Autism

1. Autism Rachelle Tyler, M.D., M.P.H. Associate Professor of Pediatrics Developmental Studies Program Department of Pediatrics David Geffen School of Medicine at UCLA

2. Case Presentation Birth History: Female twin A of a 32-week gestation. Mother was 31years old at the time of the pregnancy. Mother had good prenatal care. She had placenta previa 27 weeks into the gestation. Mother was hospitalized until the twins were born. The twins were delivered by C-section as mother continued to have contractions and vaginal bleeding. The infant’s Apgars were 8 and 9. The infant remained in the NICU for 6 weeks. She was treated for RDS, had apnea of prematurity, anemia of prematurity, and some feeding intolerance. She was discharged home in good health.

3. Case Presentation Twenty-One Months: History She was eating well, had no problems with various textures of food, and was growing well. Her immunizations were up to date and she had a negative ROS. Her parents were concerned about her being “hyposensitive” She liked to put objects in her mouth and would pick up lint off the floor and eat it. She was receiving occupational therapy for the hyposensitivity”. She had 20 to 30 words, but she did not consistently respond to verbal commands given to her by her parents.

4. Case Presentation Twenty-One Months: Exam She made intermittent eye contact with the examiner, but showed minimal wariness of the examiner as a stranger. She was pleasant, active, easily distracted by the noises in the clinic (e.g. other children crying) and did not remain on task for any significant periods of time. She showed no interest in language items and did not respond to verbal commands given to her by the examiner or her parents. She was scheduled for a follow-up appointment for 2-3 months.

5. Case Presentation Twenty-Four Months: History She continued to have no major medical problems. Her parents reported that she had about 300 to 400 words and that she spoke in phrases. They felt that she was responding to questions more so than she had been. They felt that her expressive language was ahead of her receptive language. She was not engaging in shared attention with them. She was very active and they were concerned about AD/HD.

6. Case Presentation Twenty-Four Months: Exam She showed minimal interest in any of the toys that were presented to her. She spent most of the time aimlessly wandering around the room. She did not respond to her name being called either by the examiner or her parents. She made minimal eye contact with the examiner or her parents.

7. Case Presentation Autism Impairments in: Reciprocal social interactions Verbal and non-verbal communication History of repetitive behaviors

8. AutismClinical Definition • Heterogeneous neurodevelopmental disorder characterized by impairments in: • Reciprocal social interactions • Verbal and non-verbal communication • The range of activities or interests

9. Autism Spectrum Disorder(Prevalence) • Prior 1985: 5 to 10/10,000 • Mid-nineties: CDC received calls about • increasing prevalence • Recent: 1 in 150 children • Four males: one female

10. Autism Spectrum Disorder • Postulates on increased prevalence • Greater awareness • More screening and evaluation • Broadened criteria (Autism, Autism Spectrum Disorder, Asperger) • Labels get services • Assortive mating

11. Autism Spectrum Disorder(Etiology) • Genetics—likely a polygenic disorder resulting from gene-environment interactions • Possibly chromosomal “hot spots” with loci on 6,7,13,15, 16, 17, 22. • Possible various environmental triggers in those who are genetically predisposed have not been identified

12. Autism Spectrum Disorder(Genetic Predisposition) • More common in families who have a history of other psychiatric disorders (e.g. obsessive compulsive disorder, bipolar disorder) • More common in families with another child with autism Five times greater risk for another child to have autism Fifty percent chance if two children in family have autism Sixty percent risk in dizygotic twins Ninety percent risk in monozygotic twins • More common in families with other family members who have mild communication and social impairment problems

13. Autism(Diagnosis) • Onset of symptoms prior to 3 years of age • Most commonly diagnosed between 2.5 to 5 years of age • Core symptoms: Impaired social interactions/functioning Impairment in communication Repetitive behaviors/limited repertoire of activities

14. Autism (Impaired Social Interactions) • Minimally initiates activity with others (especially other children) • Minimally responds appropriately when approached by other children • Uses others as objects

15. Autism (Impairment in Communication) • Does not talk by 18 months • Regression of language skills between 16-24 months • Minimally orients to name being called • Echolalic speech without comprehension of what they are saying • Words and phrases are out of context

16. Autism(Restricted Activities/Interests) • Ritualistic Behaviors (e.g. hand-flapping) • Intolerant of changes in daily routine (e.g. changes in daily traveling routes) • Difficulty with transitions (e.g. from outside to inside)

17. Detection of Developmental Disabilities in Children • Approximately sixteen percent (16%) of children have developmental disabilities • Less than thirty percent (30%) are detected • Subtle disabilities are difficult to detect at younger ages • Detection must be done early for intervention to occurs

18. Mandate on Developmental Screening • Title V of Social Security Act and Individuals with Disabilities Education Improvement Act (IDEA 2004) • “Child health care professionals to provide early identification and intervention for children with developmental disabilities through community based collaborative systems”

19. Mandate on Developmental Screenings • AAP Policy Statement: July 2006 • Identification of infants and young children with developmental disorders in the medical home • Developmental assessment in the medical home • Surveillance • Screening • Evaluation

20. Mandated Screening Intervals • General Development: Nine months Eighteen months Thirty months Four years Any time that a parent/guardian has a concern • Autism: Eighteen months Twenty four months Thirty months

21. Screening Tools • Formal Screening (General Development): PEDS (Parent’s Evaluation of Developmental Status) Ages and Stages Denver Developmental Screening • Formal Screening Tools (Autism): CARS (Childhood Autism Rating Scale) MCHAT (Modified Checklist for Autism in Toddlers) CHAT (Checklist for Autism in Toddlers)

23. Autism Spectrum Disorder(Differential Diagnosis) • Mental retardation Socially interactive at cognitive level Language skills are more related to cognitive age • Chromosomal disorder Fragile X Slow to normal development Regression after 1 year of age Rett’s syndrome Deceleration in head growth Neurodegenerative

24. Autism Spectrum Disorder(Diagnosis) • Complete history with focus on time of onset and severity of difficulties • Physical exam with focus on ruling out dysmorphic features (e.g. epicanthal folds, short fingers) • Rule out hearing deficit—no more than 20db loss • Rule out visual deficit • Laboratory tests (chromosomal analysis if dysmorphic features present)

25. Autism Spectrum Disorder(Evaluations) Evaluation Tools: • Bayley III • ADOS (Autism Diagnostic Observation Schedule) • Wechsler Intelligence Scale for Children (WISC-III)

26. Autism Spectrum Disorder • High functioning Normal cognition Communication may be good, but concrete Asperger syndrome—normal or close to normal language • Low functioning Low IQ (<70) Poor communications skills Repetitive behaviors

27. Autism Spectrum Disorder(Associated Disorders) • Problems with sensory integration (e.g. textures, everyday sounds) • Seizures—20 to 30% by adulthood • Tourette’s syndrome

28. Autism Spectrum Disorder(Management) • Life-long • Goal—work towards as much independence as possible • Early intervention • Specific interventions—speech/language therapy, occupational therapy, feeding therapy, applied behavioral analysis, social skills training • Parent education, counseling, and support groups

29. Autism Spectrum Disorder(Interventions) • Behavioral • Applied behavioral analysis • Floor-time • Pivotal response • Speech/language therapy • Individual • Group • Occupational therapy • Individual • Group

30. Autism Spectrum Disorder(Medications) Antidepressants for anxiety symptoms Anti-psychotics for severe behavioral problems Stimulants to decrease hyperactivity

31. Autism Spectrum Disorder(Resources) • Regional Centers • Local School Districts • Community Professionals (e.g. psychiatrists, psychologists, social workers, occupational therapists, speech therapists)

32. Autism Spectrum Disorder(Prognosis) Good prognosis: Speech present prior to 5 years of age Performance IQ over 70 Highly structured environment

33. Case Presentation Fifty-Eight Months: History Had been attending a small private preschool setting with a one-on-one with her and had been receiving in-home behavioral interventions. She had difficulty following group instructions. She was easily distracted and had frequently had to be called back to task. She was able to keep up with the school work that was being presented to her.

34. Case Presentation Fifty-Eight Months: Exam She made good eye contact with the examiner and her mother. She engaged in social referencing with her mother and the examiner. She was very active and frequently had to be called back to task. She spoke in complete sentences and her words were generally in context. Her overall developmental skills were within the normal limits

35. Autism Spectrum Disorder Questions?