1. Autism and Pervasive Developmental Disorders Kenneth M. Rogers, MD, MSHS Director, Child and Adolescent Psychiatry Residency

2. History Symptoms Incidence Genetics vs. Environment? Testing/Treatment Overview

3. History of Autism Autism was first described by Leo Kanner in 1943 He called the syndrome “early infantile schizophrenia” Autism was often misdiagnosed as childhood schizophrenia Early theorists thought that Autism was due to “cold and unnurturing mothers". This theory has been debunked.

4. What Do We Know About Autism? Autism: is a lifelong disability is characterized by severe problems in 3 areas: communication, behavior, and social skills. is a developmental disability occurs primarily in males. The ratio is 4:1

5. What Do We Know About Autism? Autism: occurs in approximately 1 out of 250 live births. typically manifests between ages 18 months and 3 years. is not specific or more prevalent in any racial groups or locations throughout the world.

6. What Do We Know About Autism? There is no cure, but the earlier that it is identified and treated, the better the outcome. There are numerous treatments including educational, social, and biological. Better and more intensive treatment means better outcomes

7. What is an Autism Spectrum Disorder? The spectrum consists of: Autism Asperger’s Disorder Pervasive Developmental Disorder NOS Major impairments: Social Skills/Relationships Communication Stereotypical Behaviors Desire for Sameness

8. Autism A. Qualitative Impairment in Social Interaction – AT LEAST TWO OF THE FOLLOWING 1.Marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body posture, and gestures to regulate social interaction 2. Failure to develop peer relationships appropriate to developmental level

9. Autism (con’t) 3 A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people, (e.g., by a lack of showing, bringing, or pointing out objects of interest to other people) 4.Lack of social or emotional reciprocity (note: in the description, it gives the following as examples: not actively participating in simple social play or games, preferring solitary activities, or involving others in activities only as tools or "mechanical" aids )

10. Autism (con’t) B.Qualitative Impairment in Communication – AT LEAST ONE OF THE FOLLOWING 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 gesture or mime) 2.In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others

11. 3.Stereotyped and repetitive use of language or idiosyncratic language 4.Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level Autism (con’t)

12. C. Restrictive, Repetative and Stereotyped Patterns of Behavior - AT LEAST ONE OF THE FOLLOWING 1.Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus 2.Apparently inflexible adherence to specific, nonfunctional routines or rituals

13. 3.Stereotyped and repetitive motor mannerisms (e.g hand or finger flapping or twisting, or complex whole body movements) 4.Persistent preoccupation with parts of objects Autism (con’t)?

14. II.Delays or abnormal functioning in at least one 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. The disturbance is not better accounted for by Rett's Disorder or Childhood Disintegrative Disorder Autism (con’t)

15. Asperger’s Disorder? I. Same Social Impairments as Autism II. The level of language delay/communication is not as great as in Autism III. The disturbance causes clinically significant impairments in social, occupational, or other important areas of functioning.

16. Asperger’s Disorder (con’t) IV. There is no clinically significant delay in cognitive development or in the development of age-appropriate self help skills, adaptive behavior (other than in social interaction) and curiosity about the environment in childhood.

17. Early Symptoms 18 Months to 3 Years Feeding problems, such as poor nursing ability. Apathetic and unresponsive-showing little or no desire to being held and cuddled Constant crying or the unusual absence if crying Disinterest in people or surroundings Repetitive movements such as hand shaking, prolonged rocking, head banging Sleep problems Insistence on being left alone

18. Early Symptoms 18 Months to 3 Years Difficulty in toilet training Odd eating habits and preferences Late speech, no speech, or loss of previously acquired speech Sleep problems, such as needing only a few hours of sleep each night Doesn’t play with toys or others Fails to respond to affection Prolonged temper tantrums

19. Autism Diagnostic Interview – Revised (ADI-Revised): 2-4 hour interview with parents of child’s history Autism Diagnostic Observation Schedule (ADOS) – one-hour structured and unstructured interaction with child Childhood Autism Ratings Scales (CARS) E-2 Diagnostic Checklist – Parents’ checklist scored for no charge. Download pdf file from www.autism.comwww.autism.com Diagnostic tools

20. Early onset vs. regression Source: Autism Research Institute

21. Genetic or environmental cause? Studies of identical twins reveal: –Co-occurrence is 40-80%; if 100%, then only due to genes; so genes are important, but so are unknown environmental factors –5-10% chance siblings of ASD children will have autism –25% chance of major speech delay … so carefully monitor siblings

22. No straight lines from genes to behavior Genetic vulnerability + environmental exposure Remember: Genes alone produce proteins – not behaviors

23. Which Genes? The cause is multifactorial Many genetic studies of autism, but they generally disagree: too few subjects and too many genes Probably 10-20 genes involved in complex manner In two similar conditions, Fragile X and Rett’s Syndrome, a single gene has been identified for each

24. Which Environmental Causes? No general agreement Possible causes with limited scientific data include: –High levels of heavy metals (e.g., mercury, lead, aluminum) due to limited excretion because of low glutathione –Excessive oral antibiotic usage (gut damage = poor health and neurodevelopment due to poor digestion of nutrients) –Vaccine damage (especially MMR) –Exposure to pesticides –Lack of essential minerals (iodine, lithium) –Other unknown factors

25. Rapid increase in incidence 1970’s: 2-3 per 10,000 2007: 1 per 150 (U.S.); 1 per 58 (U.K.) In the U.S., affects 1 in 80 boys, since 4:1 boy:girl ratio In California (which has best statistics), autism now accounts for 45% of all new developmental disabilities

26. Why rising rate of autism? Partly due to better awareness/diagnosis, but that is only modest effect (per study by MIND Institute) Not due to genetics – gene pool changes slowly So, primary reason is most likely increased exposure to environmental factors (mercury, antibiotics, MMR, pesticides, iodine deficiency, other?)

27. Prognosis? Two major lifetime studies: Autism: 90% of adults unable to work, unable to live independently, < 1 social interaction/month Asperger (50% with college degrees): Similar prognosis – social skills, limited use of intellectual abilities Grim prognosis if untreated, but many treatments now available, and there is MUCH more hope

28. Treatment Strategies Autism is a constellation of symptoms rather than a disease. There is not a single treatment that works for everyone. The treatment is multi-modal and multidisciplinary. Education will almost always be the lead discipline. Plans should be comprehensive and re- evaluated frequently.

29. Co-Morbid Disorders Co-morbidity is common Common co-morbid conditions –Mental retardation –Anxiety –Depression –ADHD/Impulsivity Co-morbid conditions must be addressed separately

30. Behavioral therapies ABA – most widely accepted/implemented – evidence based – well documented results Storyboarding Pivotal Response Training Sensory Integration Therapy Floor Time Relationship Development Intervention (RDI)

31. Applied Behavior Analysis (ABA) Pioneered by Dr. Ivar Lovaas at UCLA in the 1960s. Research study (1987) evaluated 19 young autistic children ranging from 35 to 41 months of age. Children received over two years of intensive, 40-hour/week behavioral intervention. Nearly half of the children improved so much they were indistinguishable from typical children. They went on to lead fairly normal lives. Of the other half, most had significant improvements, but a few did not improve much.

32. Several variations today, but general agreement that: Usually beneficial, sometimes very beneficial Most beneficial with young children, but older children can benefit 20-40 hours/week is ideal Prompting, as necessary, to achieve high level of success, with gradual fading of prompts Therapists need proper training and supervision Regular team meetings needed to maintain consistency ABA Today

33. Other Evidence-Based Therapies –Speech Therapy –Occupational Therapy/Physical Therapy –Physical Therapy –Sensory Integration –Auditory Integration Therapy (AIT) –Vocational Therapy