SYMPTOMS vs CAUSES
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SYMPTOMS vs CAUSES Presentation Transcript

  • 1. SYMPTOMS vs CAUSES Putting Genetic Syndromes Into Context in the School Setting Brenda Finucane, MS, CGC Executive Director, Genetic Services www.elwyn.org/genetics.html
  • 2. Why Diagnose? • Reimbursement • Eligibility for services • Treatment • Research
  • 3. What is Etiology? • Etiology: Underlying Cause • Developmental Disorders are Symptoms for Which There are Many Different Etiologies • Genetic and / or Medical Factors Play a Role in the Etiology of Most Developmental Disorders
  • 4. 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
  • 5. IA TRY PSY CH DEVELOPMENTAL DISABILITIES AS A BATTLEGROUND DN A IQ DN A DN A IQ DN A IQ IQ Y IQ GE G NE L O T O IC H IQ S YC IQ IQ DN PS IQ IQ IQ DN A DN A IQ IQ IQ IQ A DN DNA D DN A A NN AA
  • 6. Psychiatric Diagnoses OCD ANXIETY OP P O ADD ORDE R SITIO DIS DISO RDER NAL DEFI ADHD ANT BIPO L AR AUTISTIC DISORDER DISO RDER INTE MR RMIT DISO TENT RDER EXPL OSIV IMPULSE CONTROL E DISORDER
  • 7. 5 DIFFERENT PSYCHIATRIC DIAGNOSES 1 ETIOLOGICAL DIAGNOSIS: FRAGILE X SYNDROME BIPOLAR ASPERGER’S DISORDER DISORDER LEARNING DISABILITY AUTISM MENTAL RETARDATION
  • 8. Diagnostic Alphabet Soup 22q DELETION OCD LD BI ANXIETY PDD-NOS D POLAR ISORD ADD ER
  • 9. Diagnostic Alphabet Soup 22q DELETION OCD LD BI ANXIETY PDD-NOS D POLAR ISORD ADD ER
  • 10. Reaction of parent upon hearing that her child has yet another diagnosis
  • 11. Diagnostic Alphabet Soup 22q DELETION OCD LD BI ANXIETY PDD-NOS D POLAR ISORD ADD ER
  • 12. Etiological Diagnoses In the school setting: - Etiological diagnoses often considered irrelevant - Educational / Psychiatric diagnoses determine services and treatment approaches
  • 13. Psychiatric Diagnoses * based upon observed, recognizable patterns of human behavior * diagnosed using criteria found in the DSM-IV (Diagnostic & Statistical Manual) * symptom diagnoses which do not emphasize etiology * never diagnosed using laboratory tests
  • 14. PSYCHIATRIC CHILDHOOD DISORDERS Attention Deficit / Disruptive Behavior Disorders Learning Disorders Mental Retardation Pervasive Developmental Disorders Tic Disorders Etc., etc., etc.
  • 15. Attention Deficit / Disruptive Behavior Disorders • HD, ADD • ADHD, ADHD-NOS, • Conduct Disorder • ODD (Oppositional Defiant Disorder) • Disruptive Behavior - NOS
  • 16. Psychiatric Diagnoses N.O.S. NOT OTHERWISE SPECIFIED (Close, but no cigar)
  • 17. HA / ADD / ADHD • Characterized by a majority of the following symptoms being present in either category (inattention or hyperactivity). • Symptoms are inconsistent with the child’s developmental level.
  • 18. 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.
  • 19. 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
  • 20. Symptoms of Hyperactivity • 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
  • 21. Symptoms of Impusivity • Blurts out answers before questions have been completed • Has difficulty awaiting turn • Interrupts or intrudes on others
  • 22. 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
  • 23. Pervasive Developmental Disorders • Autistic Disorder • Rett’s Disorder • Childhood Disintegrative Disorder • Asperger’s Disorder • Pervasive Develop. Disorder - NOS
  • 24. 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)
  • 25. Autistic Disorder A) Qualitative impairment in social interaction as manifested by at least 2 of the following: • Impairment in use of nonverbal behaviors • Failure to develop peer relationships • Lack of spontaneous seeking to share enjoyment, interests, etc. with others • Lack of social or emotional reciprocity
  • 26. Autistic Disorder 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 idiosyncratic language • Lack of make-believe or imitative play
  • 27. Autistic Disorder 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 stereotyped and restricted patterns of interest • Adherence to routine, rituals • Stereotyped / repetitive motor mannerisms • Preoccupation with parts of objects
  • 28. Autistic Disorder (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
  • 29. Mental Retardation • Significantly subaverage intellectual functioning (IQ of 70 or below) • Deficits in adaptive functioning • Onset prior to age 18
  • 30. Distribution of IQ scores 100 MR gifted 70 130
  • 31. Degree of Mental Retardation G E R AN - 70 E E 55 DE GR - 55 40 d - 40 mil rat e 25 5 w2 m o de be l o e se ver d f o un pro
  • 32. DUAL DIAGNOSIS: THE CO-OCCURRENCE OF MENTAL RETARDATION AND PSYCHIATRIC DISORDERS IN THE SAME PERSON
  • 33. Dueling Diagnoses: The confusion which results when a genetic diagnosis is made in a person who has a psychiatric diagnosis, or vice versa The confusion which results when DNA meets DSM! Genetics Psychiatry DYSMORPHOLOGY DSM-IV
  • 34. Conclusions • Diagnostic confusion abounds! • Psychiatric / behavioral symptoms: Found in association with many genetic disorders, including 22q11.2 deletion syndrome • Causes vs. Symptoms: Important for parents and professionals to understand distinction
  • 35. 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 underlying cause of the behavioral symptoms
  • 36. 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