1. Autism Spectrum Disorders and Learning Disorders Basheer Lotfi-Fard, MD Assistant Clinical Professor Department of Psychiatry

2. Objectives  Identify the epidemiologic, neurobiologic, and clinical manifestations of autism spectrum disorders.  Describe the diagnostic criteria for mental retardation, autism and other pervasive developmental disorders  Identify the epidemiologic and genetic characteristics of these conditions  Describe treatment approaches for behavioral and psychiatric comorbidity associated with these conditions

3. DSM IV TR  Autistic Disorder  Asperger's Disorder  Childhood Disintegrative Disorder  Rett's Disorder  Pervasive Developmental Disorder NOS

4. DSM IV TR Autistic Disorder: A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3): (1) qualitative impairment in social interaction, as manifested by at least two of the following: (a) marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction (b) failure to develop peer relationships appropriate to developmental level (c) 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) (d) lack of social or emotional reciprocity (2) qualitative impairments in communication as manifested by at least one of the following: (a) 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) (b) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others (c) stereotyped and repetitive use of language or idiosyncratic language (d) lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

5. DSM IV TR Autistic Disorder: (3) restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: (a) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus (b) apparently inflexible adherence to specific, nonfunctional routines or rituals (c) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements) (d) persistent preoccupation with parts of objects B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play. C. The disturbance is not better accounted for by Rett's Disorder or Childhood Disintegrative Disorder

6. Autistic Disorder  Prevalence – 2-5/10,000 in US, 5.2/10,000 worldwide  Males > Females (3-4:1), but females more severe symptoms  Highly heritable: 60-90 % monozygotic twins, 3-5% of having second child

7. Autistic Disorder  Cause is unknown, but not due to vaccines!  Measles-Mumps-Rubella (MMR) vaccine alleged to have caused a gastrointestinal disease resulting in an encephalitis  Based on an inadequate study that was questioned to have financial incentive  Decreased vaccination has not changed incidence of autism, but led to increased rates of measles

8. Autistic Disorder  50% have comorbid mental retardation  Anxiety, hyperactivity, obsessions, and oppositional behaviors commonly observed, but difficult to determine if part of the disorder or a separate condition  Psychosis and mania rarely occur, and must have high suspicion for medical cause

9. Autistic Disorder  25% have epilepsy, and 33% with mental retardation will have seizures  Highest risk is during early childhood, and most common in partial seizure  Females have higher risk than males  6.7% will have abnormal EEG without seizure

10. Autistic Disorder  25% have difficulty with sensory processing/integration  High pain threshold, gross and fine motor deficits, or hypersensitivity to sounds, lights, smells, textures, motions  Occupational therapy can assist with integrating a ‘sensory diet’ into treatment

11. Autistic Disorder Evaluation: autistic symptoms along with level of intellectual functioning, vocabulary and grammar skills, fine and gross motor skills, sensory processing deficits, and other psychiatric illnesses

12. Autistic Disorder Treatment:  May include speech therapy, occupational therapy, behavioral, special education services  Less than 10% receive recommended level of services due to lack of funds and shortage of providers

13. Autistic Disorder  Applied Behavioral Analysis – relies on operant conditioning (presenting stimulus to evoke specific response), use parents as co-therapist, can also be home based  Picture Exchange Communication System (PECS) – designed for early nonverbal symbolic communication, child requests for objects and expresses emotions

14. Autistic Disorder  Aripirpazole and Risperidone: FDA approved for irritability associated with Autism  Higher susceptibility to extrapyramidal symptoms and weight gain  No medications to assists with social skills, language, or cognitive deficits

15. Rett’s Disorder  Due to mutation in MECP2 (X-linked)  2 nd most common cause of mental retardation  Almost exclusively found in girls, rarely in boys with XXY abnormality  Deceleration of growth of head circumference between ages 6 months to 4 years old and loss of previously developed motor and social skills

16. Learning Disorders  Average annual expense $10,588 (1.6x higher than regular student)  40% drop out or enter juvenile justice system

17. Diagnosis  DSM – skill deficit and resulting functional impairment  Office of Special Education and Rehabilitative Services (2004) – if a child does not achieve adequately or meet state-approved, grade level standards, further intervention is needed

18. Treatment  Response to Intervention – develop plan to help students achieving behind same-grade peers, and if ineffective further assess for causes

19. Differential Diagnosis  Must rule out following: visual deficits, hearing deficits, motor disability, mental retardation, emotional disturbance, limited proficiency in English, environmental/economic factors (homelessness, hunger), or cultural factors (no emphasis by parents to study)

20. Mental Retardation  IQ of approximately 70 or below, or 71-75 if significant adaptive deficits are present  Concurrent deficits in adaptive functioning in at least two of the following areas: communication, self-care and home living, social/interpersonal skills, use of community resources, self-direction, functional academic skills, work, leisure, health issues and safety  Onset before age 18 y/o

21. Mental Retardation  Mild (50-55 to 70) – 3%  Moderate (35-40 to 50-55) – 0.4%  Severe (20-25 to 35-40) – 0.1%  Borderline Intellectual Functioning (71-84) – 7%

22. Mental Retardation Causes:  Chromosomal Defects – Down Syndrome, Fragile X  Genetic Disorders – Tuberous Sclerosis  Pre- and Perinatal Complications – Fetal Alcohol Syndrome, Hypoxia  Medical Conditions – Lead intoxication, Tay-Sachs Disease

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