OBJECTIVES
Define Autistic spectrum disorder and its relevance to children’s health
Review AAP recommendations for Health Supervision
How is the diagnosis made?Prenatal visitHealth supervision specific for this group of
children (Periodicity Schedule-what additional supervision is needed)
Discuss patient education materials and community resources, citing specific sources and examples
Define relevance of this topic for clinical NP practice
DEFINE AUTISM AND ITS RELEVANCE TO CHILDREN’S HEALTH
Autism spectrum disorders (ASD): Group of biologically based neurodevelopmental disorders characterized by impairments in three major domains:
SocializationCommunicationBehavior
Relevance to children’s health:Occurs 1 in 88Life long disabilityNo cure; early intervention help minimize or
avoid behavior problemsAffects male more than female. All races and
ethnicity
THE SPECTRUM NATURE OF AUTISM
Varies in severity of symptoms, age of onset, and association with other disorders
No single behavior that is always typical or present in every individual
Manifestations vary across children and within an individual over time
Innumerable combinations of possible symptoms
TYPES OF ASD
Pervasive developmental disorders (PDD)Autistic; classic autismAsperger; asperger syndrome
Pervasive developmental disorder not otherwise specified (PDD-NOS); typical autism
OthersRett disorderChildhood disintegrated disorder
ASPERGER SYNDROME
Milder symptoms of autistic disorderImpairment in social interactionUnusual behavior and interestsRestricted repetitive and stereotyped
patterns of behaviorNo language delaysNo intellectual disability
Ratio: 7-10 males to 1 female
PDD-NOS
Fewer autistic symptomsMilder autistic symptomsSymptoms might cause only social and
communication challengesNot meet criteria for specific PDD: Some of
the criteria but not sufficient for autistic disorder
Rett SyndromeCharacterized by specific pattern of loss of
skills: Social and motorOnset after a period of normal developmentOccurs almost exclusively in girls
CHILDHOOD DISINTEGRATIVE DISORDERVery rare disorder (5 in 10000)Normal development in first 2 years of
lifeLoss of previously acquired skills
before the age of 10Regression may occur over weeks or
monthsAt least 2 of the 3 main traits
associated with autism disorderOften overlaps with severe mental
retardation or seizureRate of deterioration is slow
AUTISMClassic autismSignificant language delays, social,
and communication challengesImpaired reciprocal social interactionUnusual behaviors and interests:
Restricted repetitive or stereotyped behaviors
Intellectual disability
Manifestations of disorder in each of the three areas are required for diagnosis
AUTISM
AUTISM
Onset prior to chronological age of 3 years
Development is uneven with occasional talent in a limited area, coupled with severe deficit in other areas
Varies in severity
Many children will have other impairments such as mental retardation or seizures
ETIOLOGY
Genetic 10%: Fragile X syndromePrenatal infections: Congenital rubella,
cytomegalovirusNeonatal infectionsPhenylketonuriaFetal alcohol syndromeEnvironmental
Most cases cause is unknownRatio: Male to female 2.8 to 5.5:1
CLINICAL PRESENTATION: INFANTS
Passive; nonengaging, quiet, and floppy
Difficulty; colicky, stiff with poor eye contact
Attachment problems appearFailure to respond to name or gestures
Usually autism is not identified in infancy although some development problems especially in the social area are emerging
CLINICAL PRESENTATION: TODDLERS
Language: Expressive language is delayedSocially: exhibits detachment, decreased eye
contact, a lack of fear, and poor creative social skills
Behavior: Tantrums that persist: repetitive movements; a preference to line, stack, or spin toys, and insistence on routines
Use of echolalia is persistent
CLINICAL PRESENTATION: PRESCHOOLERSLanguage: Lack of meaningful speech,
decreased gestures, and gaze disturbancesSocial: Lack of fears of strangers, invasion of
others territory, preference to be alone, and lack of social awareness
Behavior: Persistence and insistence behavior. Symbolic play is limited
The child may have precocious or average development of rote memory skills but often without comprehension of concepts
SYMPTOMS
Does not respond to name by 12 months
Does not point at objects to show interest by 14 months
Does not play pretend game by 18 months
Avoidance of eye contact and wants to be alone
Have delayed speech and language skills
Repeat words or phrases over and over (echolalia)
SYMPTOMS
Gives unrelated answers to questionsHas obsessive interestsFlap their hands, rock their body or
spin in circlesHas unusual reactions to the way
things sound, smell, taste, look, or feelGets upset by minor changesHas trouble understanding other
people's feelings and talking about their own feelings
AAP RECOMMENDATIONS FOR HEALTH SUPERVISION
Conduct developmental assessment at every well-child visit
Screen at 18, 24 months, and any other time when parents raise concern
If an autism specific screening result is negative but parents, caregiver, or clinician remain concern then clinician is to schedule a targeted clinic visit to address persistent concerns
Immediately action on positive screening results
HOW IS DIAGNOSIS MADE
History:
Prenatal/neonatal history
Developmental history
Family history: May reveal other member with ASD, speech delay, language deficit, mood disorder or mental retardation
Review of system should investigate seizures, head injury, hearing loss, and meningitis
RED FLAG FOR AUTISM SCREENING Failure to meet childhood developmental milestones
Sibling with autism
Problems with eye contact
Does not respond to name
No babbling or gesturing by 12 months
No single word by 16 months
No two words (not echolalic) phrases by 24 months
Loss of any language or social abilities at any age
DIAGNOSTIC CRITERIA: DSM-IV-TR
A. A total of six (or more) items from 1, 2, and 3, with at least two from 1, and one each from 2 and 3:
1. Qualitative impairment in social interaction as manifested by:
Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
Failure to develop peer relationships appropriate to developmental level
A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (for example, by a lack of showing, bringing, or pointing out objects of interest)
Lack of social or emotional reciprocity
DIAGNOSTIC CRITERIA: DSM-IV-TR2. qualitative impairments in communication as
manifested by:
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 gestures or mime)
In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
Stereotyped and repetitive use of language or idiosyncratic language
Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level
DIAGNOSTIC CRITERIA: DSM-IV-TR
3. restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, as manifested by:
Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
Apparently inflexible adherence to specific, nonfunctional routines or rituals
Stereotyped and repetitive motor mannerisms (for example, hand or finger flapping or twisting, or complex whole-body movements)
Persistent preoccupation with parts of objects
DIAGNOSTIC CRITERIA: DSM-IV-TR
B. Delays or abnormal functioning in at least one of the following areas with onset prior to age 3 years:
Social interaction
Language as used in social communication Symbolic or imaginative play
C. The disturbance is not better accounted for by Rett’s disorder or childhood disintegrative disorder.
HOW IS DIAGNOSIS MADE
Physical examination:Check for general appearance of genetic
syndromes and neurologic findings of focal abnormalities
Tests:Developmental surveillanceBehavior assessment: MCHAT questionnaireAudiology evaluationVisual evaluationLead toxicityChromosomal analysis
DIFFERENTIAL DIAGNOSIS
ADHDMental retardationObsessive compulsive disorderSchizoaffective disorderBipolar disorder
Management
The goals of treatment are to maximize functioning, move the child toward independence, and improve the quality of life.
Specific strategies that address the core deficits of autism seek to:
Improve social functioning and play skillsImprove communication skills (both
functional and spontaneous)Improve adaptive skillsDecrease nonfunctional or negative
behaviorsPromote academic functioning and cognition
ManagementSpecialist involvement: Children with a diagnosis of
autism should have ongoing follow-up with a specialist (e.g., developmental and behavioral pediatrician, neurologist, psychologist, psychiatrist) or a team of providers who can monitor progress, provide recommendations for behavioral programming, and screen for medical concerns.
The initial management team of providers may include Developmental pediatrician, child neurologist, child
psychiatristPsychologist or neuropsychologistGeneticist or genetics counselorSpeech language pathologistOccupational therapistAudiologistSocial worker
Comorbidities Medical disorders: seizure, genetic disorders,
lead poisoning Developmental and mental health:
Hyperactivity, anxiety, depression, social phobia
Gastrointestinal problems: Constipation, feeding
Skin disorders: Dermatitis, eczema
Delays in acquisition of self help skills: Toileting, dressing, hygiene
PRENATAL VISIT
Assess the health of pregnant woman
Education: Developmental brain abnormalities occurs during first and second trimesters
Environmental factors
Maternal illness
Health Supervision specific for Autistic childrenMaintaining optimal health with
immunizations and routine well child office visits
Treat acute illnesses ie: URI, UTI, OM, and abd pain etc.
Monitor comorbidities such as seizures, psychiatric disorders, and lead blood levels
Medications are usually prescribed for hyperactivity, affective difficulties ( anxiety, depression) and attention difficulties
Common for GI problems; constipation or diarrhea, addressed in office or a GI consult if unsuccessful
Health supervision of Autistic children
Yearly eye exams are recommended to optimize vision
Hearing should be tested at birth and when r/o ASD
Multiple therapies for an autistic child are integrated as early as possible for optimal development and independence
Cotherapies include: speech, occupational, sensory integration, and social skills
Habilitative therapies address social skills, ADL's, play and leisure skills, communication, academic skills and maladaptive skills
Health Supervision of Autistic children
The key to the health maintenance of an autistic child is the parents and extended family. Their care, education, and training
Educating the parents and teaching them how to take care of their child is the most important for the success of the child
Family counseling, support and training is extremely important to the development of an autistic child
Long term care may need to be addressed as an adolescent depending on their level of function
Continuous developmental and IQ testing through the ages of 3-25years is recommended
Relevance to NP PracticeThe NP may be the first contact that screens
for autismNP is trained and educated in screening for
autismThe NP can be the home base to manage the
autistic childYearly well child visits can be managed by
the NPAdditional referrals for therapies can be
initiated by the NPProgress can be documented by the NPAcute illnesses can be managed by the NPOptimizing the autistic child's medical care
by the NP maximizes the quality of life for the child
The NP can facilitate education, training and support for parents and family
Relevance to NP PracticeClinical judgement by the NP for diagnosis is
extremely important due to the challenge of no lab test for autism
Key to success of an Autistic child is; early diagnnosis, prompt referral and early intervention, all done by NP
Early diagnosis is relevent for future conception of siblings
Nurse Practitioners can provide medical home base and coordinate systems of care.
Education Materials
Autistic Society of America:http://www.autism-society.org
Several links for other sites are connected on this website
Phoenix Autism: wwwphxautism.org/National Autism Association:
Nationalautismassociation.org/Cafe Mom: www.cafemom.com/Autism-SupportPhoenix Childrens Hospital
www.phoenixchildrens.com/physician.../resources/autism.html
Raising Special Kids: raisingspecialkids.org
Conclusion
Defined Autistic Spectrum Disorder and its Defined Autistic Spectrum Disorder and its relevance to childcare’s healthrelevance to childcare’s health
Reviewed AAP recommendations for Health Reviewed AAP recommendations for Health SupervisionSupervision
Discussed how ASD diagnosis is madeDiscussed how ASD diagnosis is made Prenatal visitPrenatal visit Health supervision specific for Autistic children Health supervision specific for Autistic children
(Periodicity Schedule-what additional supervision (Periodicity Schedule-what additional supervision is needed)is needed)
Discussed patient education materials and Discussed patient education materials and community resources, citing specific sources and community resources, citing specific sources and examplesexamples
Define relevance of this topic for clinical NP Define relevance of this topic for clinical NP practicepractice
References Al-Qabandi, Mona, Gorter, Jan Willem and Rosenbaum,
Peter. Early Autism Detection: Are We Ready for Routine Screening? Pediatrics 2011;128;e211; originally published online June 13, 2011; DOI: 10.1542/peds.2010-1881
Autism Society of America (2006). All about autism. Retrieved from http://www.autism-society.org/site/PageServer?pagename=allaboutautism
Augustyn, M (2012). Diagnosis of autism spectrum disorders. Retrieved from www.uptodate.com.ezproxy.apollolibrary.com/contents
Baron-Cohen, S. (2004). The cognitive neuroscience of autism. Journal of Neurology Neurosurgery and Psychiatry, 75, 945-948. Retrieved from the Gale Group database.
Bridgemohan, C (2012). Screening tools for autism spectrum disorders. Retrieved from www.uptodate.com.ezproxy.apollolibrary.com/contents/
References Burns, C. E., Dunn, A. M., Brady, M. A., Starr, N.
B., and Blosser, C. G (2009). Pediatric Primary Care 4th ed. St Louis, Missouri. Saunders Elsevier.
Help Group; The autism facts (2008). Retrieved from The California Legislative Blue Ribbon Commission on Autism website: http://senweb03.senate.ca.gov/autism/ index.html
Johnson, C. P., Myers, S. M., and The council on children with disabilities (2007). Retrieved from http//:aappolicy.aappublicatins.org/cgi/content/full/pediatrics;128/5/e1321?rss=1
References Johnson, C. P., Myers, S. M., Identification and
Evaluation of Children With Autism Spectrum Disorders (2007) Pediatrics 2007;120;1183; originally published online October 29, 2007; DOI: 10.1542/peds.2007-2361
Weissman, L., and Bridgemohan, C (2012). Autism spectrum disorders in children and adolescents: Overview and management. Retrieved from www.uptodate.ezproxy.apollolibrary.com/contents/
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