050323 الذاريات 1 سورة

050323 2

Terminology epidemiology and pathogenesis of autism

spectrum disorders (ASD)

DR NOOR ALMADAWI PEDIATRIONNATIONAL GUARDPHCDAMMAM

050323 3

ASDs are a range of neurological disorders marked by impairment in social functioning communication and repetitive and unusual patterns of behavior

(Autism Society of America 2008)

050323 4

Leo Kanner in 1943 described 11children with ldquoAutistic disturbances of affective contactrdquo1048708 Poor social skills1048708 Quantitative and qualitative defects ofcommunication1048708 Professional high achieving parentsCoined the term Refrigerator mother

Hans Asperger in 1944 described ldquoautistic psychopathyrdquoPoverty of social interactionFailure of communicationOddities of non-verbal communication ndash gaze aversion prosodyAttractive appearanceSimilarities between the parents and childrenResistance to change

HIS

TOR

Y

050323 5

050323 6

Childhood psychosis

Kannerrsquos syndrome

Autism

Pervasive developmental disorder

Autistic spectrum disorder

Terminolog

y

050323 7

bull Communication is defined asAccording to the Webster Dictionary

communication is defined as a act of connecting with act of connecting with or or

conveying either by verbal or non verbalconveying either by verbal or non verbal

Webster Dictionary Published 1997 Landoll Inc

050323 8

Verbal Communication

bull Language we all have a gift of speakingbull Using the right words at the right timebull Account for all the words you say and

meaningbull Saying the right thing at the wrong time

050323 9

Non-Verbal

bull Body Languagebull What message are you giving by your

Expressionsbull Judging by visual expressionsbull Saying a positive thing with a negative

expression

050323 10

Pervasive االعامة Developmental Disorders (PDD)

bull Biologically based

neurodevelopmental disorders characterized by impairments in three major domains

bull Socialization bull Communicationbull And behavior

Pervasive Developmental Disorders In American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders Fourth Edition Text Revision (DSM-IV-TRreg) American Psychiatric Association Washington DC 2000 p 70

050323 11

Triad of Autistic Impairment

Impairment of social interaction

Impairment of language and communication

Impairment of flexibility of thought

ADS

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 2

Terminology epidemiology and pathogenesis of autism

spectrum disorders (ASD)

DR NOOR ALMADAWI PEDIATRIONNATIONAL GUARDPHCDAMMAM

050323 3

ASDs are a range of neurological disorders marked by impairment in social functioning communication and repetitive and unusual patterns of behavior

(Autism Society of America 2008)

050323 4

Leo Kanner in 1943 described 11children with ldquoAutistic disturbances of affective contactrdquo1048708 Poor social skills1048708 Quantitative and qualitative defects ofcommunication1048708 Professional high achieving parentsCoined the term Refrigerator mother

Hans Asperger in 1944 described ldquoautistic psychopathyrdquoPoverty of social interactionFailure of communicationOddities of non-verbal communication ndash gaze aversion prosodyAttractive appearanceSimilarities between the parents and childrenResistance to change

HIS

TOR

Y

050323 5

050323 6

Childhood psychosis

Kannerrsquos syndrome

Autism

Pervasive developmental disorder

Autistic spectrum disorder

Terminolog

y

050323 7

bull Communication is defined asAccording to the Webster Dictionary

communication is defined as a act of connecting with act of connecting with or or

conveying either by verbal or non verbalconveying either by verbal or non verbal

Webster Dictionary Published 1997 Landoll Inc

050323 8

Verbal Communication

bull Language we all have a gift of speakingbull Using the right words at the right timebull Account for all the words you say and

meaningbull Saying the right thing at the wrong time

050323 9

Non-Verbal

bull Body Languagebull What message are you giving by your

Expressionsbull Judging by visual expressionsbull Saying a positive thing with a negative

expression

050323 10

Pervasive االعامة Developmental Disorders (PDD)

bull Biologically based

neurodevelopmental disorders characterized by impairments in three major domains

bull Socialization bull Communicationbull And behavior

Pervasive Developmental Disorders In American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders Fourth Edition Text Revision (DSM-IV-TRreg) American Psychiatric Association Washington DC 2000 p 70

050323 11

Triad of Autistic Impairment

Impairment of social interaction

Impairment of language and communication

Impairment of flexibility of thought

ADS

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 3

ASDs are a range of neurological disorders marked by impairment in social functioning communication and repetitive and unusual patterns of behavior

(Autism Society of America 2008)

050323 4

Leo Kanner in 1943 described 11children with ldquoAutistic disturbances of affective contactrdquo1048708 Poor social skills1048708 Quantitative and qualitative defects ofcommunication1048708 Professional high achieving parentsCoined the term Refrigerator mother

Hans Asperger in 1944 described ldquoautistic psychopathyrdquoPoverty of social interactionFailure of communicationOddities of non-verbal communication ndash gaze aversion prosodyAttractive appearanceSimilarities between the parents and childrenResistance to change

HIS

TOR

Y

050323 5

050323 6

Childhood psychosis

Kannerrsquos syndrome

Autism

Pervasive developmental disorder

Autistic spectrum disorder

Terminolog

y

050323 7

bull Communication is defined asAccording to the Webster Dictionary

communication is defined as a act of connecting with act of connecting with or or

conveying either by verbal or non verbalconveying either by verbal or non verbal

Webster Dictionary Published 1997 Landoll Inc

050323 8

Verbal Communication

bull Language we all have a gift of speakingbull Using the right words at the right timebull Account for all the words you say and

meaningbull Saying the right thing at the wrong time

050323 9

Non-Verbal

bull Body Languagebull What message are you giving by your

Expressionsbull Judging by visual expressionsbull Saying a positive thing with a negative

expression

050323 10

Pervasive االعامة Developmental Disorders (PDD)

bull Biologically based

neurodevelopmental disorders characterized by impairments in three major domains

bull Socialization bull Communicationbull And behavior

Pervasive Developmental Disorders In American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders Fourth Edition Text Revision (DSM-IV-TRreg) American Psychiatric Association Washington DC 2000 p 70

050323 11

Triad of Autistic Impairment

Impairment of social interaction

Impairment of language and communication

Impairment of flexibility of thought

ADS

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 4

Leo Kanner in 1943 described 11children with ldquoAutistic disturbances of affective contactrdquo1048708 Poor social skills1048708 Quantitative and qualitative defects ofcommunication1048708 Professional high achieving parentsCoined the term Refrigerator mother

Hans Asperger in 1944 described ldquoautistic psychopathyrdquoPoverty of social interactionFailure of communicationOddities of non-verbal communication ndash gaze aversion prosodyAttractive appearanceSimilarities between the parents and childrenResistance to change

HIS

TOR

Y

050323 5

050323 6

Childhood psychosis

Kannerrsquos syndrome

Autism

Pervasive developmental disorder

Autistic spectrum disorder

Terminolog

y

050323 7

bull Communication is defined asAccording to the Webster Dictionary

communication is defined as a act of connecting with act of connecting with or or

conveying either by verbal or non verbalconveying either by verbal or non verbal

Webster Dictionary Published 1997 Landoll Inc

050323 8

Verbal Communication

bull Language we all have a gift of speakingbull Using the right words at the right timebull Account for all the words you say and

meaningbull Saying the right thing at the wrong time

050323 9

Non-Verbal

bull Body Languagebull What message are you giving by your

Expressionsbull Judging by visual expressionsbull Saying a positive thing with a negative

expression

050323 10

Pervasive االعامة Developmental Disorders (PDD)

bull Biologically based

neurodevelopmental disorders characterized by impairments in three major domains

bull Socialization bull Communicationbull And behavior

Pervasive Developmental Disorders In American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders Fourth Edition Text Revision (DSM-IV-TRreg) American Psychiatric Association Washington DC 2000 p 70

050323 11

Triad of Autistic Impairment

Impairment of social interaction

Impairment of language and communication

Impairment of flexibility of thought

ADS

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 5

050323 6

Childhood psychosis

Kannerrsquos syndrome

Autism

Pervasive developmental disorder

Autistic spectrum disorder

Terminolog

y

050323 7

bull Communication is defined asAccording to the Webster Dictionary

communication is defined as a act of connecting with act of connecting with or or

conveying either by verbal or non verbalconveying either by verbal or non verbal

Webster Dictionary Published 1997 Landoll Inc

050323 8

Verbal Communication

bull Language we all have a gift of speakingbull Using the right words at the right timebull Account for all the words you say and

meaningbull Saying the right thing at the wrong time

050323 9

Non-Verbal

bull Body Languagebull What message are you giving by your

Expressionsbull Judging by visual expressionsbull Saying a positive thing with a negative

expression

050323 10

Pervasive االعامة Developmental Disorders (PDD)

bull Biologically based

neurodevelopmental disorders characterized by impairments in three major domains

bull Socialization bull Communicationbull And behavior

Pervasive Developmental Disorders In American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders Fourth Edition Text Revision (DSM-IV-TRreg) American Psychiatric Association Washington DC 2000 p 70

050323 11

Triad of Autistic Impairment

Impairment of social interaction

Impairment of language and communication

Impairment of flexibility of thought

ADS

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 6

Childhood psychosis

Kannerrsquos syndrome

Autism

Pervasive developmental disorder

Autistic spectrum disorder

Terminolog

y

050323 7

bull Communication is defined asAccording to the Webster Dictionary

communication is defined as a act of connecting with act of connecting with or or

conveying either by verbal or non verbalconveying either by verbal or non verbal

Webster Dictionary Published 1997 Landoll Inc

050323 8

Verbal Communication

bull Language we all have a gift of speakingbull Using the right words at the right timebull Account for all the words you say and

meaningbull Saying the right thing at the wrong time

050323 9

Non-Verbal

bull Body Languagebull What message are you giving by your

Expressionsbull Judging by visual expressionsbull Saying a positive thing with a negative

expression

050323 10

Pervasive االعامة Developmental Disorders (PDD)

bull Biologically based

neurodevelopmental disorders characterized by impairments in three major domains

bull Socialization bull Communicationbull And behavior

Pervasive Developmental Disorders In American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders Fourth Edition Text Revision (DSM-IV-TRreg) American Psychiatric Association Washington DC 2000 p 70

050323 11

Triad of Autistic Impairment

Impairment of social interaction

Impairment of language and communication

Impairment of flexibility of thought

ADS

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 7

bull Communication is defined asAccording to the Webster Dictionary

communication is defined as a act of connecting with act of connecting with or or

conveying either by verbal or non verbalconveying either by verbal or non verbal

Webster Dictionary Published 1997 Landoll Inc

050323 8

Verbal Communication

bull Language we all have a gift of speakingbull Using the right words at the right timebull Account for all the words you say and

meaningbull Saying the right thing at the wrong time

050323 9

Non-Verbal

bull Body Languagebull What message are you giving by your

Expressionsbull Judging by visual expressionsbull Saying a positive thing with a negative

expression

050323 10

Pervasive االعامة Developmental Disorders (PDD)

bull Biologically based

neurodevelopmental disorders characterized by impairments in three major domains

bull Socialization bull Communicationbull And behavior

Pervasive Developmental Disorders In American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders Fourth Edition Text Revision (DSM-IV-TRreg) American Psychiatric Association Washington DC 2000 p 70

050323 11

Triad of Autistic Impairment

Impairment of social interaction

Impairment of language and communication

Impairment of flexibility of thought

ADS

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 8

Verbal Communication

bull Language we all have a gift of speakingbull Using the right words at the right timebull Account for all the words you say and

meaningbull Saying the right thing at the wrong time

050323 9

Non-Verbal

bull Body Languagebull What message are you giving by your

Expressionsbull Judging by visual expressionsbull Saying a positive thing with a negative

expression

050323 10

Pervasive االعامة Developmental Disorders (PDD)

bull Biologically based

neurodevelopmental disorders characterized by impairments in three major domains

bull Socialization bull Communicationbull And behavior

Pervasive Developmental Disorders In American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders Fourth Edition Text Revision (DSM-IV-TRreg) American Psychiatric Association Washington DC 2000 p 70

050323 11

Triad of Autistic Impairment

Impairment of social interaction

Impairment of language and communication

Impairment of flexibility of thought

ADS

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 9

Non-Verbal

bull Body Languagebull What message are you giving by your

Expressionsbull Judging by visual expressionsbull Saying a positive thing with a negative

expression

050323 10

Pervasive االعامة Developmental Disorders (PDD)

bull Biologically based

neurodevelopmental disorders characterized by impairments in three major domains

bull Socialization bull Communicationbull And behavior

Pervasive Developmental Disorders In American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders Fourth Edition Text Revision (DSM-IV-TRreg) American Psychiatric Association Washington DC 2000 p 70

050323 11

Triad of Autistic Impairment

Impairment of social interaction

Impairment of language and communication

Impairment of flexibility of thought

ADS

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 10

Pervasive االعامة Developmental Disorders (PDD)

bull Biologically based

neurodevelopmental disorders characterized by impairments in three major domains

bull Socialization bull Communicationbull And behavior

Pervasive Developmental Disorders In American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders Fourth Edition Text Revision (DSM-IV-TRreg) American Psychiatric Association Washington DC 2000 p 70

050323 11

Triad of Autistic Impairment

Impairment of social interaction

Impairment of language and communication

Impairment of flexibility of thought

ADS

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 11

Triad of Autistic Impairment

Impairment of social interaction

Impairment of language and communication

Impairment of flexibility of thought

ADS

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 12

Ears

Noise

words

personEyes

Non-Verbal

Body

VerbalYou

Autistic Individuals donrsquot see the big picture

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 13

t

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 14

Prevalence bull The majority of studies conducted from the

mid-1990s indicates a prevalence of approximately 1 in 1000 for autism and 2 in 1000 for ASD compared to 04 to 05 per 1000 in previous decades

bull NOW2009 __________ 1 IN 91bull bull 100000 saudi child has autism in 2008bull Now in saudia arabia 1 every 144 is autistic

bull Four times more prevalent in boys than in girls

National Autism Association Article Date 07 Oct 2009 - 200 PDT

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 15

These disorders include

Autistic disorder (classic autism sometimes called early infantile autism) Childhood Autism or Kanners autism)

Rettrsquos disorder

Childhood disintegrative disorder

Aspergerrsquos disorder (also known as Asperger syndrome)

Pervasive Developmental Disorder Not Otherwise Specified (Pdd-nos) Including Atypical Autism

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 16

specific criteria to diagnose autistic disorder

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 17

Diagnostic criteria for autistic disorder

A B C

1 Qualitative impairment in social interaction as manifested by at least two of the following

a Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze facial expression body posture and gestures إيماءاتto regulate social interaction

b Failure to develop peer relationships appropriate to developmental level

c A lack of spontaneous seeking to share enjoyment interests or achievements with other people (eg by a lack of showing bringing or pointing out object of interest)

d Lack of social or emotional reciprocityتبادل

A A total of 6 or more items from 1 2 and 3 with at least two from 1

and one each from 2 and 3

Cnt

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 18

bull 2 Qualitative impairments in communication as manifested by at least one of the following

a Delay in or total lack of the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

b In individuals with adequate speech marked impairment in the ability to initiate or sustain conversation with others

c Stereotyped and repetitive use of language or idiosyncratic language

d Lack of varied spontaneous make-believe play or social imitative play appropriate to developmental level

Cnt

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 19

bull 3 Restricted repetitive and stereotyped patterns of behavior interests and activities as manifested by at least one of the following

a Encompassing preoccupationإنهماك with one or more stereotypedنمطي and restricted patterns of interest that is abnormal either in intensity or focus

b Apparently inflexible adherence to specific nonfunctional routines or ritualsطقوس

c Stereotyped and repetitive motor mannerisms (eg hand or finger flapping or twisting or complex whole-body movements

d Persistent preoccupation with parts of objects

Cnt

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 20

bull B Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years

1 social interaction 2 language as used in social communication or 3 symbolic or imaginative play

bull C The disturbance is not better accounted for by Retts Disorder or (CDD) Childhood Disintegrative Disorder

Cnt

Reproduced from American Psychiatric Association (DSM-IV-TRDiagnostic and Statistical Manual of Mental Disorders 4th ed text revision American Psychiatric Association Washington DC 2000 Copyright copy2000 American Psychiatric Association

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 21

Screening tools for autism spectrum disorders

bull Screening is defined as a brief formal standardized evaluation the purpose of which is the early identification of patients with unsuspected deviations from normal

bull A screening instrument enables detection of conditionsconcerns that may not be readily apparent without screening

bull Screening does not provide a diagnosis it helps to determine whether additional investigation (eg a diagnostic evaluation) by clinicians with special expertise in developmental pediatrics is necessary

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 22

Several screening tools have been developed for use in children younger than

three years of agebull Checklist for Autism in

Toddlers (CHAT) bull Quantitative Checklist for

Autism in Toddlers (Q-CHAT) bull Modified Checklist for Autism

in Toddlers (M-CHAT) bull Checklist for Autism in

Toddlers-23 (CHAT-23) bull Pervasive Developmental

Disorders Screening Test II Primary Care Screener (PDDST-II PCS)

bull Screening Tool for Autism in Two-Year-Olds (STAT)

Johnson CP Myers SM Identification and evaluation of children with autism spectrum disorders Pediatrics 2007 1201183

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 23

Checklist for Autism in Toddlers (CHAT (lt18mbull Section A - Ask Parent bull Yes or Nobull ____ 1) Does your child enjoy being swung(يتأرحج bouncedيقفز on

your knee etcbull ____ 2) Does your child take an interest in other childrenbull ____ 3) Does your child like climbing on things such as up stairsbull ____ 4) Does your child enjoy playing peek-a-boo خاطفة -hide نظرة

and-seekbull ____ 5) Does your child ever pretendيتظاهر for example to make

a cup of tea using a toy cup and teapot or pretend other thingsbull ____ 6) Does your child ever use hisher index finger to point to ask

for somethingbull ____ 7) Does your child ever use hisher index finger to point to

indicate interest in somethingbull ____ 8) Can your child play properly with small toys (eg cars or

bricksطوب) without just mouthing fiddling هام or dropping غيرthem

bull ____ 9) Does your child ever bring objects over to you to show you something

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 24

bull Section B - GPs observationbull Yes or Nobull ____ i) During the appointment has the child made eye contact with youbull ____ ii) Get childs attention then point across the room at an interesting object and

say Oh look Theres a (name a toy) Watch childs face Does the child look across to see what you are pointing at

bull NOTE - to record yes on this item ensure the child has not simply looked at your hand but has actually looked at the object you are pointing at

bull ____ iii) Get the childs attention then give child a miniature toy cup and teapot and say Can you make a cup of tea Does the child pretend to pour out the tea drink it etc

bull NOTE - if you can elicit an example of pretending in some other game score a yes on this item

bull ____ iv) Say to the child Wheres the light or Show me the light Does the child point with hisher index finger at the light

bull NOTE - Repeat this with Wheres the teddy اطفال or some other unreachable لعبةobject if child does not understand the word light To record yes on this item the child must have looked up at your face around the time of pointing

bull ____ v) Can the child build a tower of bricksطوب (If so how many) (Number of bricks)

bull Indicates critical question most indicative of autistic characteristics

Cnt

British Journal of Psychiatry (1996) 168 pp 158-163Psychological markers in the detection of autism in infancy in a large population AUBaron-Cohen S Cox A Baird G Swettenham J Nightingale N Morgan K Drew A Charman T SOBr J Psychiatry 1996 Feb168(2)158-63

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 25

Quantitative Checklist for Autism in Toddlers (Q-CHATQuantitative Checklist for Autism in Toddlers (Q-CHAT)

1

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 26

2

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 27

3

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 28

4

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 29

22

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 30

M-CHAT 2006 أألطفال عند التوحد استبيان قائمة

1

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 31

2

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 32

IQ in autism

50 IN 5050-70 in 2070-100 in 30 the last is the BESTBUT IN ONE SIDE OF ARTHigh functioning autism is the term used to

describe individuals with intelligence quotient (IQ) gt70 (ie borderline and above intelligence)

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 33

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 34httpwwwgulfkidscomarbooks-9htm

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 35

bull Medical conditions associated with autism bull Between 45 and 60 percent of children with autism are

mentally retarded bull Seizures occur in 11 to 39 percent of children with

ASD The risk of seizures is higher in individuals with more severe intellectual disability (mental retardation)

bull A minority (fewer than 10 to 25 percent) of cases of ASD are associated with a medical condition or syndrome such as phenylketonuria fetal alcohol syndrome tuberous sclerosus fragile X syndrome or Angelman syndrome These syndromes are usually diagnosed at or shortly after birth

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 36

The pathogenesis of ASD is incompletely understood

bull There is increasing evidence for the role of genetic factors in the etiology of autism

bull Evidence for the strong genetic contribution to development of ASD is derived from the following observations

bull Unequal sex distribution with 41 male predominance

bull Increased prevalence in siblings of patients with ASD compared to the general population

bull High concordance rate among monozygotic twins

Pediatrics 2007 Nov120(5)1183-215 Epub 2007 Oct 29

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 37

bull Neuroimaging and autopsy studies in patients with autism suggest that brain abnormalities play an important role

bull These abnormalities include diffuse differences in total and regional gray and white matter volumes sulcal and gyral anatomy brain chemical concentrations neural networks brain lateralization and cognitive processing compared to individuals without autism

Cnt

NA-MIC AHM Salt Lake City UTNA-MIC AHM Salt Lake City UT Jan 11 2007Jan 11 2007

MRI findings in 77 children with non-syndromic autistic disorder 20094(2)e4415 Epub 2009 Feb 10

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 38An Autistic Brain result or causeof autism

Larger frontal lobes due to excess white matter

bull Corpus Collosum is undersized

bull Amygdala is enlarged10 larger hippocampus This region is responsible for memory ASD patients rely onmemory to interpret situations

bull Cerebellum is larger also due to excess white matter

Too many cables within local areas but not enough linking different regions

Cnt

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 39

bull Parental age mdash Advanced parental age (both paternal and maternal) have been associated with an increased risk of having a child with ASD

bull This is perhaps related to de novo spontaneous mutations andor alterations in genetic imprinting

Advancing paternal age and autism Gen Psychiatry 2006 Sep63(9)1026-32

Arch Pediatr Adolesc Med 2007 Apr161(4)334-40

Advanced parental age and the risk of autism spectrum disorder J Epidemiol 2008 Dec 1168(11)1268-76 Epub 2008 Oct 21

Cnt

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 40

bull Lack of association with immunizations mdash Some authors have attributed regressive autism to vaccine exposure (particularly measles vaccine and thimerosal [a mercury preservative used in vaccines]) However the overwhelming majority of epidemiologic evidence does not support an association between immunizations and autism

Thimerosal and the occurrence of autism negative ecological evidence from Danish population-based data Pediatrics 2003 112604AUTISM AND VACCINESthe TRUTH beyond the CONTROVERSYPediatrics on the Parkway November 15 2008

Cnt

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 41

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 42

Possible Red Flags for Autism

bull The child does not respond to hisher name

bull The child cannot explain what heshe wants

bull The childrsquos language skills are slow to develop or speech is delayed

bull The child doesnrsquot follow directions

bull At times the child seems to be deaf

bull The child seems to hear sometimes but not other times

bull The child doesnrsquot point or wave ldquobye-bye

bull The child seems to prefer to play alone

bull The child gets things for himherself only

The child used to say a few words or babble but now heshe doesnrsquot The child throws intense or violent tantrums The child has odd movement patterns The child is overly active uncooperative or resistant The child doesnrsquot know how to play with toys The child doesnrsquot smile when smiled at The child has poor eye contact The child gets ldquostuckrdquo doing the same things over and over and canrsquot move on to other things

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 43

bull The child is very independent for hisher age bull The child does things ldquoearlyrdquo compared to other children bull The child seems to be in hisher ldquoown worldrdquo bull The child seems to tune people out bull The child is not interested in other children bull The child walks on hisher toes bull The child shows unusual attachments to toys objects or schedules

(ie always holding a string or having to put socks on before pants) bull Child spends a lot of time lining things up or putting things in a

certain order

bull

Cnt

The National Institute of Child Health and Human Development (NICHD) Autism Overview What We Know 2005

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 44

Asperger syndrome bull First identified by Hans Asperger in 1944bull unusual social styles even lack of eye contact in

interactions or poor social skillsbull Difficulty making friendsbull Difficulty reading or communicating through non verbal

social cues such as facial expressions Cannot read body language

bull Have difficulty introducing themselves into groups of people or conversations

bull Obsessive focus on a narrow interestdifferent way of thinking and interacting with their

environment

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 45

Where Aspergerrsquos Syndrome Differs from Autism

Autism Aspergerrsquos Syndrome

Severe problems with language

No significant language delay or problems with

structure

Significant learning difficulties

Learning difficulties less severe

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 46

In facthellip

People with Aspergerrsquos Syndrome usually have average or above average intelligence

LITTLE PROFESSORShellip

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 47

bull Individuals with AS have low-IQbull Effect of bad parentingbull Person should be able to control their behavior

Strengths

Individuals with AS are quirky but are also Individuals with AS are quirky but are also creative and intelligentcreative and intelligentCan be successful in ldquonarrowrdquo careers IT Can be successful in ldquonarrowrdquo careers IT EngineeringEngineeringHave a unique perspective Have a unique perspective

Com

mon

Misconception

s

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 48

bull Rettrsquos disorderbull It was described in 1966 by Andreas Rett an Austrian

neuropediatrician

bull Its quite rare with only one affected out of every ten to fifteen thousand childrenbull bull a neurodevelopmental disorder that occurs almost exclusively in

females

bull Affected patients initially develop normallybull then gradually lose speech and purposeful hand use sometime

after 18 months of age

bull Most cases result from mutations in the MECP2 gene

bull Characteristic features includebull deceleration of head growth (in contrast to acceleration of head

growth which occurs in other ASD) bull stereotypic hand movementsbull Dementia seizures autistic features ataxia and breathing abnormalities

subsequently develop

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 49

bull Deceleration of brain growth begins after birth bull In a postmortem study of 39 patients 3 to 35 years

old most RETTrsquoS brains were smaller than normal and did not grow after age four years

bull In contrast the heart kidneys liver and spleen grew at a normal rate until 8 to 12 years of age At that time their growth rate decelerated but continued so that organ weights were appropriate for height which was also reduced Adrenal organ weights were normal

Armstrong DD Dunn JK Schultz RJ Herbert DA Organ growth in Rett syndrome a postmortem examination analysis Pediatr Neurol 1999 20125

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 50

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 51

Cnt

050323 52

Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

050323 53

DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

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Exclusion Criteria

bull Evidence of intrauterine growth retardationbull Organomegaly or other signs of storage diseasebull Retinopathy or optic atrophybull Microcephaly at birthbull Evidence of perinatally acquired brain damagebull Existence of identifiable metabolic or other

progressive neurological disorderbull Acquired neurological disorders resulting from

severe infections or head trauma

Cnt

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DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

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Rettrsquos Disorder

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bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

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Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

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DSM-IV Diagnosis of Rettrsquos Disorderbull A All of the following

ndash (1) apparently normal prenatal and perinatal developmentndash (2) apparently normal psychomotor development through the first 5

months after birthndash (3) normal head circumference at birth

bull B Onset of all of the following after the period of normal developmentndash (1) deceleration of head growth between ages 5 and 48 monthsndash (2) loss of previously acquired purposeful hand skills between ages

5 and 30 months with the subsequent development of stereotyped hand movements (eg hand-wringing or hand washing)

ndash (3) loss of social engagement early in the course (although often social interaction develops later)

ndash (4) appearance of poorly coordinated gait or trunk movementsndash (5) severely impaired expressive and receptive language

development with severe psychomotor retardation

050323 54

Rettrsquos Disorder

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

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Rettrsquos Disorder

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bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 55

bull Rettrsquos Disorder

ndash Mostly femalesndash Deterioration in developmental

milestones head circumference overall growth

ndash Loss of purposeful hand movements

ndash Stereotypic hand movements (hand-wringing hand washing hand-to-mouth)

ndash Poor coordination ataxia apraxia

ndash Loss of verbalizationndash Respiratory irregularityndash Early seizuresndash Low CSF nerve growth factor

bull Autistic Disorder

ndash Mostly malesndash Abnormalities present from

birth

ndash Stereotypic hand movements not always present

ndash Little to no loss in gross motor function

ndash Aberrant language but not complete loss

ndash No respiratory irregularity ndash Seizures rare if occur

develop in adolescencendash Normal CSF nerve growth

factor

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 56

Childhood Disintegrative Disorder bull is a regressive disorder bull This favors boys and does not begin to show symptoms

before three to four yearsbull By this time the child has meet many of their early milestones They are

walking potty trained affectionate and will be speaking Theyll enjoy playing with their peers

bull Then it will begin without warning and over the space of just a few months all this progress will stop The child will lose whatever language they have and will no longer be able to control their bowel or bladder They may begin to have seizures and will usually have a low IQ This is the most dramatic of all the types of autism as the once sunny smiling child will turn sullen uncommunicative and lose all they have learned

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

050323 58

050323 57

Pervasive Developmental Disorder not

Otherwise Specified PDD -NOS bull is the name used for people who have

many of the symptoms of autism but not enough of one kind to be labeled with it and so they are put in this general category The person may have most of the symptoms a very few or almost none It is not a diagnosis of a disorder but merely a term to cover off the symptoms of an unknown neurodevelopmental disorder

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Treatments

bull Speech and Language Therapybull Behavioral managementbull Physical and Occupational Therapybull Music Therapybull Computer Therapybull Socialization Therapy

050323 60httpwwwgulfkidscomarbook9-1836htm

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httpwwwgulfkidscomarbook9-2038htm

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More referencesbull Edelson M (2006) Are the Majority of Children With Autism Mentally Retarded A

Systematic Evaluation of the Data Focus on Autism and Other Developmental Disabilities 21 (2)66-83

bull Bellini S And Hopf A (2007) The Development of the Autism Social Skills Profile A Preliminary Analysis of Psychometric Properties Focus on Autism and Other Developmental Disabilities 22 (2) 80-87

bull Koegel R And Koegel L (1995) Teaching Children with Autism Baltimore Paul H Brookes Publishing Co Inc

bull Murdock L Cost H and Tieso C (2007) Measurement of Social Communication Skills of Children With Autism Spectrum Disorders During Interactions With Typical Peers Focus on Autism and Other Developmental Disabilities 22 (3) 160-172

bull Myles B Lee H Smith S Tien K Chou Y Swanson T and Hudson J (2007) A large-Scale Study of the Characteristics of Asperger Syndrome Education and Training in Developmental Disabilities 42 (4) 448-459

bull Richard G (1997)The Source for Autism Illinois LinguiSystems Incbull Sewell K (1998) Breakthroughs How to Reach Students with Autism Wisconsin

Attainment Publicationbull Simons J and Oishi S (1987) The Hidden Child The Linwood Method for Reaching

the Autistic Child Maryland Woodbine Housebull Tyron P Mayes S Rhodes R and Waldo M (2006) Can Aspergerrsquos Disorder be

diffrentiated from Autism Using DSM-IV Criteria Focus on Autism and Other Developmental Disabilities 21 (1)pp 2-6

فر+ج (bull لبيب عثمان 2002د العربي) المجلس الطفولة مرحلة في الذهنية اإلعاقات - القاهرة و+التنمية للطفولة

050323 63

Thanks

What

050323 60httpwwwgulfkidscomarbook9-1836htm

050323 61

httpwwwgulfkidscomarbook9-2038htm

050323 62

More referencesbull Edelson M (2006) Are the Majority of Children With Autism Mentally Retarded A

Systematic Evaluation of the Data Focus on Autism and Other Developmental Disabilities 21 (2)66-83

bull Bellini S And Hopf A (2007) The Development of the Autism Social Skills Profile A Preliminary Analysis of Psychometric Properties Focus on Autism and Other Developmental Disabilities 22 (2) 80-87

bull Koegel R And Koegel L (1995) Teaching Children with Autism Baltimore Paul H Brookes Publishing Co Inc

bull Murdock L Cost H and Tieso C (2007) Measurement of Social Communication Skills of Children With Autism Spectrum Disorders During Interactions With Typical Peers Focus on Autism and Other Developmental Disabilities 22 (3) 160-172

bull Myles B Lee H Smith S Tien K Chou Y Swanson T and Hudson J (2007) A large-Scale Study of the Characteristics of Asperger Syndrome Education and Training in Developmental Disabilities 42 (4) 448-459

bull Richard G (1997)The Source for Autism Illinois LinguiSystems Incbull Sewell K (1998) Breakthroughs How to Reach Students with Autism Wisconsin

Attainment Publicationbull Simons J and Oishi S (1987) The Hidden Child The Linwood Method for Reaching

the Autistic Child Maryland Woodbine Housebull Tyron P Mayes S Rhodes R and Waldo M (2006) Can Aspergerrsquos Disorder be

diffrentiated from Autism Using DSM-IV Criteria Focus on Autism and Other Developmental Disabilities 21 (1)pp 2-6

فر+ج (bull لبيب عثمان 2002د العربي) المجلس الطفولة مرحلة في الذهنية اإلعاقات - القاهرة و+التنمية للطفولة

050323 63

Thanks

What

050323 61

httpwwwgulfkidscomarbook9-2038htm

050323 62

More referencesbull Edelson M (2006) Are the Majority of Children With Autism Mentally Retarded A

Systematic Evaluation of the Data Focus on Autism and Other Developmental Disabilities 21 (2)66-83

bull Bellini S And Hopf A (2007) The Development of the Autism Social Skills Profile A Preliminary Analysis of Psychometric Properties Focus on Autism and Other Developmental Disabilities 22 (2) 80-87

bull Koegel R And Koegel L (1995) Teaching Children with Autism Baltimore Paul H Brookes Publishing Co Inc

bull Murdock L Cost H and Tieso C (2007) Measurement of Social Communication Skills of Children With Autism Spectrum Disorders During Interactions With Typical Peers Focus on Autism and Other Developmental Disabilities 22 (3) 160-172

bull Myles B Lee H Smith S Tien K Chou Y Swanson T and Hudson J (2007) A large-Scale Study of the Characteristics of Asperger Syndrome Education and Training in Developmental Disabilities 42 (4) 448-459

bull Richard G (1997)The Source for Autism Illinois LinguiSystems Incbull Sewell K (1998) Breakthroughs How to Reach Students with Autism Wisconsin

Attainment Publicationbull Simons J and Oishi S (1987) The Hidden Child The Linwood Method for Reaching

the Autistic Child Maryland Woodbine Housebull Tyron P Mayes S Rhodes R and Waldo M (2006) Can Aspergerrsquos Disorder be

diffrentiated from Autism Using DSM-IV Criteria Focus on Autism and Other Developmental Disabilities 21 (1)pp 2-6

فر+ج (bull لبيب عثمان 2002د العربي) المجلس الطفولة مرحلة في الذهنية اإلعاقات - القاهرة و+التنمية للطفولة

050323 63

Thanks

What

050323 62

More referencesbull Edelson M (2006) Are the Majority of Children With Autism Mentally Retarded A

Systematic Evaluation of the Data Focus on Autism and Other Developmental Disabilities 21 (2)66-83

bull Bellini S And Hopf A (2007) The Development of the Autism Social Skills Profile A Preliminary Analysis of Psychometric Properties Focus on Autism and Other Developmental Disabilities 22 (2) 80-87

bull Koegel R And Koegel L (1995) Teaching Children with Autism Baltimore Paul H Brookes Publishing Co Inc

bull Murdock L Cost H and Tieso C (2007) Measurement of Social Communication Skills of Children With Autism Spectrum Disorders During Interactions With Typical Peers Focus on Autism and Other Developmental Disabilities 22 (3) 160-172

bull Myles B Lee H Smith S Tien K Chou Y Swanson T and Hudson J (2007) A large-Scale Study of the Characteristics of Asperger Syndrome Education and Training in Developmental Disabilities 42 (4) 448-459

bull Richard G (1997)The Source for Autism Illinois LinguiSystems Incbull Sewell K (1998) Breakthroughs How to Reach Students with Autism Wisconsin

Attainment Publicationbull Simons J and Oishi S (1987) The Hidden Child The Linwood Method for Reaching

the Autistic Child Maryland Woodbine Housebull Tyron P Mayes S Rhodes R and Waldo M (2006) Can Aspergerrsquos Disorder be

diffrentiated from Autism Using DSM-IV Criteria Focus on Autism and Other Developmental Disabilities 21 (1)pp 2-6

فر+ج (bull لبيب عثمان 2002د العربي) المجلس الطفولة مرحلة في الذهنية اإلعاقات - القاهرة و+التنمية للطفولة

050323 63

Thanks

What

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Thanks

What

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See youNext

lecture

• Slide 1
• Terminology epidemiology and pathogenesis of autism spectrum disorders (ASD)
• Slide 3
• Slide 4
• Slide 5
• Slide 6
• Slide 7
• Verbal Communication
• Non-Verbal
• Pervasive االعامة Developmental Disorders (PDD)
• Triad of Autistic Impairment
• Slide 12
• t
• Prevalence
• Slide 15
• specific criteria to diagnose autistic disorder
• Slide 17
• Slide 18
• Slide 19
• Slide 20
• Screening tools for autism spectrum disorders
• Several screening tools have been developed for use in children younger than three years of age
• Checklist for Autism in Toddlers (CHAT (lt18m
• Slide 24
• Slide 25
• Slide 26
• Slide 27
• Slide 28
• Slide 29
• Slide 30
• Slide 31
• Slide 32
• Slide 33
• Slide 34
• Slide 35
• The pathogenesis of ASD is incompletely understood
• Slide 37
• Slide 38
• Slide 39
• Slide 40
• Slide 41
• Possible Red Flags for Autism
• Slide 43
• Asperger syndrome
• Where Aspergerrsquos Syndrome Differs from Autism
• Slide 46
• Slide 47
• Slide 48
• Slide 49
• Slide 50
• Slide 51
• Exclusion Criteria
• DSM-IV Diagnosis of Rettrsquos Disorder
• Slide 54
• Slide 55
• Childhood Disintegrative Disorder
• Pervasive Developmental Disorder not Otherwise Specified PDD -NOS
• Slide 58
• Treatments
• Slide 60
• Slide 61
• More references
• Slide 63
• Slide 64