What is an Autistic Spectrum Disorder?

1. What is an Autistic Spectrum Disorder? Charlotte A. Hollman, M.D. Competencies 1.1.5S and 1.1.4S

2. Autistic Spectrum/Pervasive Developmental Disorders • Autistic disorder • Asperger disorder • Childhood disintegrative disorder • Rett’s syndrome • PDD-NOS

3. Autistic Spectrum DisordersCore Features • Significant qualitative impairment in socialization • Significant qualitative impairment in communication • Qualitative impairment in play • Restricted interests & repetitive behaviors • Onset • Autism Prior to age 36 months • CDD 2-10 years old 1.1.1S Lists and explains the characteristics of autism (Communication, sensory responses and needs, stereotypical behavior, socialization and social skill development).

4. Autistic Spectrum DisordersCore Features

5. DSM-IV Criteria for Autistic Disorder • Qualitative impairment in social interaction (at least 2) • Marked impairment in the use of multiple nonverbal behaviors to regulate social interaction • Failure to develop peer relations appropriate to developmental level • Markedly impaired expression of pleasure in other people’s happiness • Lack of social or emotional reciprocity

6. AutismImpaired Social Recognition Socially unavailable Socially remote Inappropriately interactive Pseudo-social Increasing age Decreasing severity

7. Social Deficit Socially Unavailable • Oblivious to surroundings • No seeking consolation with distress • Isolated and out of contact • Purposeless wandering

8. Social DeficitSocially Remote • Engage in solitary activity • No initiation of social interaction with adult • Little or no interest in peers • Interest in activity rather than person

9. Social DeficitInappropriately Interactive • Difficulty initiating or maintaining interactions • Some interaction with adults • Inappropriate interaction with peers • Retreat into isolation with stress

10. Social DeficitPseudo-social • Mechanical, stilted and pedantic interaction • Difficulty maintaining interaction • Fascination with certain topics/themes • Verbal skills may mask social deficits

11. DSM-IV Criteria for Autistic Disorder • Qualitative impairment in communication (at least 1) • 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 of 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 or social imitative play appropriate to developmental level

12. Autism Communication Impairment No communication Communication for needs Speech with tangential comments Cocktail speech Difficulty with: Joint attention Meta-linguistic skills Use of language

13. Autism - Impairment in Social Understanding • Impaired “Theory of Mind” • Difficulties with abstraction and humor • Poor insight regarding function • Problems with recognition of feelings

14. AutismImpairment in Play Increasingage Limited imaginativeplay around themes Stereotypic play Mechanical copying Oral behaviors Impairment in true symbolic play?

15. DSM-IV Criteria for Autistic Disorder • Restricted repetitive and stereotyped patterns of behavior, interests and activities – (at least 1) • Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus • Apparently compulsive adherence to specific, nonfunctional routines of rituals • Stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting, or complex whole body movements) • Persistent preoccupation with parts of objects

16. Autism - Restricted Interests & Repetitive Behaviors • Repetitive actions • Motor stereotypies • Compulsive behaviors • Desire for sameness/resistance to change • Fascination with themes

17. DSM-IV Criteria for Autistic Disorder • Total of 6 items B. Delay or abnormal functioning in at least one of the following areas, with onset prior to age three years: • Social interaction • Language as used in social communication • Symbolic or imaginative play C. Not better accounted for by Rett’s disorder or childhood disintegrative disorder Competencies 1.1.3S and 1.1.4S.

18. Autism - Natural History1-2 Years Old • No separation anxiety • Poor imitation • Limited/no language for requests • Decrease in socialization and eye contact • Poor representational play • History of subtle problems in infancy

19. Autism - Natural History2-3 Years Old • Wanderer or social loner • Jargon and poor speech with no gestures • Poor response to voice with normal hearing • No imitative/symbolic play • Fascinations/stereotypies noted • Possible caregiver, but poor peer, interaction

20. Autism - Natural History3-4 Years Old • Social loner/observer • Appearance of words • Echolalia • Puzzle play • Poor symbolic play

21. Autism - Natural History4-5 Years Old • Adult interaction • Peer observation • Echolalia • Use of words/phrases for requests and labeling • Imitative play • “Rough and tumble” play

22. Autism - Natural HistorySchool Age • Limited peer interaction • Language for needs and simple communication • No or restricted imaginative play • Persistence of fascinations and/or stereotypies

23. Asperger Disorder • Impaired reciprocal social interaction • Higher order language problems • Preoccupation with circumscribed topics • Resistance to change in routine • Normal or near normal IQ • Impaired motor coordination

24. Asperger DisorderSocial Impairment • Inability to understand/use social rules • Poor appreciation of social cues • Desire for interpersonal relationships • Naïve or peculiar behavior

25. Asperger DisorderCommunication Disorder • Usually normal early speech development • Adequate articulation and grammar • Odd prosody/voice • Literal with pragmatic dysfunction • Pedantic speech • Intense focus on restricted interests

26. Asperger DisorderNonverbal Deficits • Limited use of gestures • Little modulation in facial expression • Decreased or fixed eye contact • Impaired interpretation/use of body language

27. Childhood Disintegrative Disorder • Normal development to 2-10 years • Average age of onset is 3-4 years • Loss of normal language, play, social skills • Onset of restrictive repetitive behaviors • Association with more severe autistic features and mental retardation • Prognosis for functional outcome is poor

28. Autistic Regression • Occurs in 20-40% of children with autistic disorder • Usual onset is 21 months • Association with seizures or EEG epileptiform activity • Difficulty with diagnosis due to: • Failure to recognize early autistic symptoms • Failure of physician recognition of developmental problems

29. What are NOT core criteria for an Autistic Spectrum Disorder? • Sensory issues • Handflapping and headbanging • Temper tantrums/aggression • Social avoidance • Social immaturity • Results of psychological testing

30. Autistic Spectrum DisorderDemographics • Autistic disorder 5-15/10,000ASD 10-?60/10,000 • 3-4:1 male predominance • No relationship to socioeconomic status, race, culture • Average age of diagnosis • Autistic disorder 2-3 years • Asperger disorder 5-6 years • IQ<70 in 60-70% with autistic disorder

31. AutismDevelopmental Concerns • Communication • No response to name • Absent gestures/imitation • Social • Absent social smile • Social loner • Poor eye contact • No interest in peers

32. AutismDevelopmental Concerns • Behaviors • Poor play abilities • Intense preoccupations • Excessive lining or objects • Repetitive actions • Inappropriate use of toys and objects • Loss of language or social skills • Younger sibling of child with ASD

33. Autistic Spectrum DisordersEvaluation • Physician • Speech and language therapist • Psychologist/neuropsychologist • Occupational therapist • Social worker • Educational specialist

34. Autistic Spectrum DisordersEvaluation • Hearing and vision test • Genetic testing • Chromosomal analysis • DNA analysis for Fragile X • FISH for 15q region • DNA for MeCP2 (girls) • Subtelomeric probes • Lead screen (with oral behavior/pica) • EEG • History of regression • History/suspicion of seizures

35. Autistic Spectrum DisordersEvaluation • With specific clinical indications: • Metabolic testing • MRI • Allergy testing • Unproven value • Hair analysis for trace elements • Immunologic function • Vitamin/micronutrient assays • Antibody titers

36. Autistic Spectrum DisordersComplications • Accidental injury • Eating selectivity • Sleep disturbances • Hyper- or hypo-sensitivity to stimuli • Masturbation • Involvement with police

37. What is not an Autistic Spectrum Disorder? Competencies 1.1.4S and 1.4.1S.

38. Differential Diagnosis of ASD • Significant cognitive impairment • Developmental language disorder • Childhood schizophrenia • Anxiety disorders • ADHD with social immaturity • Affective disorders

39. Differential Diagnosis of ASD • Child neglect/abuse • Sensory impairment • Epileptic encephalopathy • Motor mannerisms • Schizoid personality disorder • Dementia/degenerative disorder

40. Significant Cognitive Impairment • Delayed skills at mental age level • Behavioral mannerisms more common • Functional improvement with age • Differentiation from ASD • Social skills at mental age level • Absent fascinations/stereotypies

41. Developmental Language Disorders • Impairment in expressive/receptive language development out of proportion to cognitive level • Differentiation from ASD • No dysfunction in (social) use of communication or gestures • Intact play and social skills • Absent stereotypies/fascinations

42. Childhood Schizophrenia • Delusions • Mood-incongruent hallucinations • Disorganized speech • Disorganized/catatonic behavior • Flat affect • Poverty of speech • Inability to initiate/sustain activities • Present at least 6 months

43. Childhood SchizophreniaDifferentiation from ASD • Presence of thought disorder • Persistence of features without stressors • Later age of onset • Functional deterioration and symptom exacerbation over time • Failure to achieve expected functioning

44. Anxiety • Apprehensive anticipation of future danger or misfortune accompanied by a feeling of dysphoria or somatic symptoms of tension and with the focus of anticipated danger being internal or external

45. Social Phobia • Persistent fear of one or more situations (the social phobic situation) in which the person is exposed to possible scrutiny by others and fears that he or she may do something or act in a way that would be humiliating or embarrassing

46. Anxiety DisordersDifferentiation from ASD • Normal development and play • Social and speech dysfunction situation specific • Absent fascinations, restricted interests, stereotypies • Idiosyncratic behavior may be related to obsessive-compulsive features

47. Obsessive-compulsive Disorder Obsession - recurrent or persistent idea, impulse or image that is intrusive and recognized as being inappropriate Compulsion - repetitive behavior based on rules and with a stereotypic pattern performed to suppress or diminish dysphoria related to obsession Occurs for more than 1 hour daily and interferes with functioning Recognized as excessive or unreasonable Not single thought or action

48. Obsessive-compulsive DisorderDifferentiation from ASD Thoughts/actions perceived as unreasonable Normal developmental milestones Later age of onset Intact language/communication

49. Attention Deficit Hyperactivity Disorder • Immature social skills • Inability to sustain peer play • Perseverative speech • Resistance to change in routine • Association with: • developmental language disorder • anxiety disorder

50. ADHD - Differentiation from ASD • Social impairment is in use or implementation of skills, not concept of socialization • Associated DLD usually does not impact pragmatic skills • Speech perserveration is not fascination • ADHD is not core feature of Asperger Disorder • No stereotypies or major fascinations (may have OCD or tics)