Autism Spectrum Disorders

1. Autism Spectrum Disorders Judith A. Axelrod, M.D. Developmental-Behavioral Pediatrician Square One Specialists in Child and Adolescent Development Professor of Pediatrics University of Louisville School of Medicine

2. Disclosures • A. “I have no relevant financial relationships with the manufacturers of any commercial products and/or provider of commercial services discussed in this CME activity.” • B. “I do not intend to discuss an unapproved/investigative use of a commercial product/device in my presentation.”

4. Autism Spectrum Disorder • Described in 1943 by Dr. Leo Kanner • Study of 11 children • Early infantile autism • Characterized by social differences • Dr. Hans Asperger • Described milder form of disorder • Asperger syndrome

5. Autism Spectrum Disorder/Pervasive Developmental Disorders • DSM-IV-TR (APA, 2000) • 5 disorders under the PDD umbrella • Qualitative impairments of communication • Qualitative impairments of social skills • Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities

6. PDD Umbrella Asperger’s Autism Childhood Disintegrative N.O.S. Rett’s

7. Autism Spectrum Disorders • Autism (50-60%) • Social communication skills<cognitive skills • PDD-NOS • Sub-threshold Autism • Asperger Syndrome • Social interaction deficits and restricted interests • Child Disintegrative Disorder • Normal development for first 2 years of life • Rett Syndrome

8. Social Communication Disorders • Autism • Asperger’s Disorder • Pervasive Developmental Disorder, NOS

9. Development of social communication • Within the first and second year of life children develop: • Sense of self • Capacity to judge form evidence • Ability to integrate ideas from past experience • Ability to appreciate psychological state of another person

10. Social communication • Teasing • Helping • Comforting

11. Development of social communication During the first and second year of life children • Show interest in other people • Show curiosity about feelings and thoughts

12. Pretend Make believe play

13. Social Communication requires: • Joint attention • Effective reciprocity or emotional sharing • The ability to realize that another person has thoughts and ideas similar to you

14. Theory of Mind • Understanding the desires of another • Understanding the emotional state of another person • Having the ability to figure out what a person’s intentions are • Knowledge that what you are thinking can be conveyed to others through nonverbal means

15. Case study Joseph is a 2 ½ year old male who lives “in his own world”. During his first year of life he was playful and interactive. He spoke single words at 8 months. At 15 months he had a 9-15 word vocabulary. At 18 months an insidious regression of his language and communication skills began. By 2 years, Joseph spoke 4 words; he did not give eye contact. He did not share his joys.

17. Autism Spectrum Disorder • Neurobiological disorder • Inconsistency of development • Expression of symptoms varies with age and developmental level of person

18. Autism • Universally considered a neurobiological disorder • No specific etiology • Likely complex etiology • Genetics • Environmental factors • Associated conditions

19. Genetic Aspects • 5% recurrence risk • Concordance in 90% monozygotic twins • Concordance in <10% dizygotic twins • Mild associations with genetic syndromes • Fragile X syndrome (3%) • Tuberous Sclerosis (2-5%)

20. Associated with Autism perhaps by chance • Neurofibromatosis • Cornelia de Lange Syndrome • Angelman Syndrome • Down Syndrome • Intrauterine exposure to: • Rubella • CMV • Varicella

21. Common (1:160) More common in boys Occurs across all populations Cause is not known Considered a spectrum disorder Autism Facts

22. Associated medical conditions • Mental retardation • Seizures • Two phases of presentation • Early childhood • Late adolescence • Linked to evidence of brain dysfunction/damage

23. Autism through the lifespan • Infants and toddlers • Easy going “too good” baby • Baby with sensory processing abnormalities • Difficulty regulating behavior • Overexcited, fussy, crying inconsolably

24. Infants and Toddlers • Poor imitation • Abnormality in eye contact • Under responsive to people • Bland facial expressions with less smiling • High tolerance to pain, cold, or heat • Hypersensitive to taste, touch

26. Early Indicators • Lack of pretend play • No point to express interest • Poor joint attention • Inefficient use of eye gaze • Communication deficits • Poor response to name

27. Other Indicators • Speech delay • Acts as if cannot hear well/ignores • In own world • Abrupt decline in use of words 18-24 mos. • Repetitive play • Unusual play/TV preferences

29. Early Childhood • Typically most obvious signs and symptoms of Autism • Ages 4-5 years standard age in determining severity of Autism • Repetitive and stereotypic behaviors emerge and peek at 5-7 years • Special interests and sameness emerge • Obsessions and compulsions

30. Common Features • Repeated body movements/stereotypies • Hand flapping, pacing, unusual inspection, opening and shutting doors, staring at lights • Attachments to objects • Resistance to change • Difficulties with transitions • Aggression • Self injurious behaviors (rare)

31. Common Features, continued • Sensory issues • Difficulty with generalization • Overselectivity • Splinter skills

33. Middle Childhood • Subtypes emerge • Aloof • Passive • Active but odd • Stereotypies diminish • Divergence of population with language acquisition and developing cognitive skills

34. Associated findings • Clumsiness • Dyspraxia • Sensory processing difficulties • Hypotonia • Joint laxity • Toe walking

35. Adolescents • Continued difficulty with social and pragmatic language • Some seek to develop social skills • Refinement of special interests • Increased anxiety, some have deterioration but regain later

36. Adults • Vastly differing outcomes • 1/3 able to care for self, achieve some independence, have some friends, live independently or with support, work • Nearly 70% have fair to good language • Marriage is rare

37. Adults continued • About 45% have poor outcome • Dependent on family or living in residential setting • Major seizures, behavioral problems, continued dependency • Increased rates of depression and anxiety

38. PDD Umbrella Asperger’s Autism Childhood Disintegrative N.O.S. Rett’s

39. Asperger syndrome continued • No apparent cognitive impairment • No apparent receptive or expressive language impairment

40. Asperger Syndrome • Impairment in social interaction • Restricted, repetitive, and stereotyped patterns of behavior

41. Ian is a 12 yr old who is described as a bright, witty, intelligent youngster who talks constantly. He is curious and persistent. He is anxious, argumentative and has trouble with transitions. Ian has a history of repetitive behaviors described as facial grimacing, finger rituals. He has unusual speech patterns. Adults are more tolerant of him than same aged peers. He has few friends. Parents report that Ian is an only child because life is very difficult with him and he requires much time and effort. Ian has Asperger Disorder.

42. Asperger Syndrome • Normal language development • No delay in receptive and expressive language milestones • Language skills are defined as normal especially in early life • No delay in cognition or adaptive behaviors in early life

43. Asperger Syndrome • Qualitative impairments in social interaction 1. Impaired nonverbal behavior • Poor eye gaze • Poor use of facial expression • Poor use of gestures to regulate interaction

44. Asperger Syndrome • Qualitative impairments in social interaction • Impaired social communication • Rigid • Excessive or tedious • Pedantic • Narrow range of interests

45. Nonverbal Learning Disorders • Some experts believe that NLD and Asperger Syndrome are one and the same • Clinical presentation is similar with Asperger Syndrome

46. NLD Characteristics • Composed of a constellation of skill deficits that impact all aspects of living. • Poor nonverbal problem solving • Significant discrepancy between verbal and nonverbal cognitive abilities • Much lower nonverbal than verbal

47. NLD continued • Difficulty correctly processing and attending to tactile and visual modalities. • Psychomotor coordination difficulties or physical awkwardness. • Specific weaknesses in social perception and social judgment. • Significant problems in adapting to new or complex situations.

48. NLD Risks • Social withdrawal and social isolation which may worsen as they get older. • Predisposed to have internalizing psychological disorders such as depression and anxiety. • Often diagnosed (misdiagnosed?) with ADHD due to poor organizational skills, poor planning and impulse control difficulties. • Perceptual difficulties of NLD can interfere with reading, math, spelling.

49. PDD Umbrella Asperger’s Autism Childhood Disintegrative N.O.S. Rett’s

50. PDD:NOS/Atypical Autism • Criteria not met for another ASD/PDD • Impairments in social interaction WITH • Impairments in verbal and nonverbal interactions • OR stereotyped behaviors, interests or activities