SYMPTOMS vs CAUSES
Transcript of SYMPTOMS vs CAUSES
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SYMPTOMS vs CAUSES
Putting Genetic Syndromes Into Context in the School Setting
Brenda Finucane, MS, CGCExecutive Director, Genetic Services
www.elwyn.org/genetics.html
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Why Diagnose?
• Reimbursement
• Eligibility for services
• Treatment• Research
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What is Etiology?
• Etiology: Underlying Cause
• Developmental Disorders are Symptoms for Which There are Many DifferentEtiologies
• Genetic and / or Medical Factors Play a Role in the Etiology of Most Developmental Disorders
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What’s So Important About Etiology?
• Genetic Counseling for Family Members
• Alleviates Guilt / Misconceptions
• Anticipation of Medical Needs
• Insight into Behavior and Learning Styles
• Support Groups
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PSYCHIATRY
PSYC
HOLO
GY GENETICS
DEVELOPMENTAL DEVELOPMENTAL DISABILITIES AS A DISABILITIES AS A
BATTLEGROUNDBATTLEGROUND
IQIQ
IQIQIQIQIQIQIQIQ
IQIQIQIQ IQIQ
IQIQIQIQIQIQ
IQIQ IQIQ
IQIQIQIQ
DNADNA
DNADNADNADNA
DNADNA
DNADNA
DNADNA
DNADNA
DNADNA DNADNA
DNADNA
DNADNA
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Psychiatric Diagnoses
OPPOSITIONAL DEFIANT DISORDERADHD
ADD ANXIETY
DISORDEROCD
AUTISTIC DISORDERINTERMITTENT EXPLOSIVE
DISORDER
BIPOLAR DISORDER
IMPULSE CONTROL DISORDER
MR
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AUTISM
LEARNING DISABILITY
MENTAL RETARDATION
ASPERGER’S DISORDER
BIPOLAR DISORDER
5 DIFFERENT PSYCHIATRIC DIAGNOSES
1 ETIOLOGICAL DIAGNOSIS: FRAGILE X SYNDROME
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ADDPDD-NOSLD BIPOLAR DISORDER
ANXIETY
OCD
Diagnostic Alphabet Soup
22q DELETION
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ADDPDD-NOSLD BIPOLAR DISORDER
ANXIETY
OCD
Diagnostic Alphabet Soup
22q DELETION
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Reaction of parent upon hearing that her child has yet another diagnosis
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ADDPDD-NOSLD BIPOLAR DISORDER
ANXIETY
OCD
Diagnostic Alphabet Soup
22q DELETION
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Etiological Diagnoses
In the school setting:
- Etiological diagnoses often considered irrelevant
- Educational / Psychiatric diagnoses determine services and treatment approaches
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Psychiatric Diagnoses
* based upon observed, recognizablepatterns of human behavior
* diagnosed using criteria found in theDSM-IV (Diagnostic & Statistical Manual)
* symptom diagnoses which do notemphasize etiology
* never diagnosed using laboratory tests
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Attention Deficit / Disruptive Behavior Disorders
Pervasive Developmental Disorders
Tic Disorders
Etc., etc., etc.
Mental Retardation
Learning Disorders
PSYCHIATRIC
CHILDHOOD DISORDERS
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Attention Deficit /Disruptive Behavior Disorders
• HD, ADD
• ADHD, ADHD-NOS,
• Conduct Disorder
• ODD (Oppositional Defiant Disorder)
• Disruptive Behavior - NOS
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NOTNOTOTHERWISEOTHERWISESPECIFIEDSPECIFIED
(Close, but no cigar)(Close, but no cigar)
N.O.S.N.O.S.
Psychiatric Diagnoses
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HA / ADD / ADHD
• Characterized by a majority of the following symptoms being present ineither category (inattention orhyperactivity).
• Symptoms are inconsistent with thechild’s developmental level.
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Symptoms of Inattention
• Fails to give close attention to details / makes careless mistakes
• Difficulty sustaining attention on tasks
• Does not seem to listen when spoken to directly
• Does not follow through on instructions/ fails to finish schoolwork, chores, etc.
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Symptoms of Inattention
• Avoids, dislikes tasks requiring sustained mental effort
• Loses things necessary for tasks, activities
• Easily distracted by extraneous stimuli
• Forgetful in daily activities
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• Fidgets with hands / feet, squirms in seat
• Leaves seat in class / other situations when required to remain seated
• Runs about or climbs excessively in inappropriate situations
• “On the go”, acts as if “driven by a motor”
• Talks excessively
Symptoms of Hyperactivity
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• Blurts out answers before questions have been completed
• Has difficulty awaiting turn
• Interrupts or intrudes on others
Symptoms of Impusivity
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HA / ADD / ADHD
• Symptoms have been present ≥ 6 months
• Some symptoms present by age 7 years
• Symptoms must exist in at least 2 separate settings
• Symptoms create significant impairment in social, academic or occupational functioning or relationships
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Pervasive Developmental Disorders
• Autistic Disorder
• Rett’s Disorder
• Childhood Disintegrative Disorder
• Asperger’s Disorder
• Pervasive Develop. Disorder - NOS
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Autistic Disorder(Autism)
(I) Need 6 or more items from section A,B, and C with at least 2 from A and 1 each from B and C.
(Chinese menu approach)
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Autistic Disorder
• Impairment in use of nonverbal behaviors
• Failure to develop peer relationships
• Lack of spontaneous seeking to shareenjoyment, interests, etc. with others
• Lack of social or emotional reciprocity
A) Qualitative impairment in social interaction as manifested by at least 2 of the following:
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B) Qualitative impairment in communication as manifested by at least 1 of the following:
• Delay in, or total lack of, spoken language
• Impairment in ability to initiate or sustain a conversation with others
• Stereotyped, repetitive, or idiosyncraticlanguage
• Lack of make-believe or imitative play
Autistic Disorder
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C) Restricted, repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least 2 of the following:
• Preoccupation with one or more stereotypedand restricted patterns of interest
• Adherence to routine, rituals
• Stereotyped / repetitive motor mannerisms
• Preoccupation with parts of objects
Autistic Disorder
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(II) Delays or abnormal functioning in at least 1 of the following areas, with onset prior to age 3 years:
A. social interaction
B. language as used in social communication
C. symbolic or imaginative play
(III) Not better accounted for by Rett’s Disorder or Childhood Disintegrative Disorder
Autistic Disorder
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Mental Retardation
• Significantly subaverage intellectual functioning (IQ of 70 or below)
• Deficits in adaptive functioning
• Onset prior to age 18
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Distribution of IQ scores
100
70 130
MR gifted
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Degree of Mental Retardation
mild
55- 70
moderate
40 - 55
severe
25 - 40
profound
below 25
DEGREE
RANGE
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DUAL DIAGNOSIS:
THE CO-OCCURRENCE OF MENTAL RETARDATION AND PSYCHIATRIC DISORDERS IN THE SAME PERSON
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Dueling Diagnoses:The confusion which results when a genetic diagnosis is made
in a person who has a psychiatric diagnosis, or vice versa
DSM-IV
Psychiatry
DYSMORPHOLOGY
Genetics
The confusion which results when DNA meets DSM!
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Conclusions
• Diagnostic confusion abounds!
• Psychiatric / behavioral symptoms: Found inassociation with many genetic disorders, including 22q11.2 deletion syndrome
• Causes vs. Symptoms: Important for parents and professionals to understanddistinction
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Conclusions
• Educational and behavioral diagnoses, not genetic diagnoses, determine eligibility and services within the school setting
• Individuals with the 22q11.2 deletion syndrome often meet criteria for one or more behavioral / educational diagnoses
• Use these diagnoses for everything they’re worth, realizing that 22q is the underlyingcause of the behavioral symptoms
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Conclusions
• School districts and teachers are unlikely to be familiar with the 22q11.2 deletion syndrome
• This does NOT necessarily mean they are unable to provide excellent services
• An open mind, willingness to learn about 22q, and a creative approach to meeting a child’s needs are just as important as experience with the syndrome