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  1. Autism Saundra Stock, M.D.

  2. Disease Overview Pervasive Developmental Disorders (PDDs) Childhood Disintegrative Disorder (CDD) Autism Spectrum Disorders* (ASDs) Rett’s Disorder Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) Autistic Disorder Asperger’s Disorder *ASD is not a DSM-IV TR definition but reflects categorization in the general public. Tidmarsh L et al. Can J Psychiatry. 2003;48:517-525; DSM-IV TR. Washington, DC: American Psychiatric Association; 2000.

  3. Diagnostic Criteria Autism is characterized by deficits in 3 core areas before age 3 At least 6 items are needed for diagnosis* Social Interaction(2) Communication (1) Behavior (1) • Marked impairment in multiple nonverbal behaviors • Failure to have developmentally appropriate peer relationships • Lack of showing, bringing, or pointing out objects of interest • Lack of social or emotional reciprocity • Delay in, or total lack of, development of spoken language • Marked impairment in ability to initiate or sustain conversation • Stereotyped and repetitive use of language, or use of idiosyncratic language (echolalia, pronoun reversals, odd cadence, scripting) • Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level • Preoccupation with 1/more stereotyped and restricted patterns of interest that are abnormal in intensity or focus • Apparently inflexible adherence to specific, nonfunctional routines or rituals • Stereotyped and repetitive motor mannerisms • Persistent preoccupation with parts of objects *DSM-IV TR. Washington, DC: American Psychiatric Association; 2000.

  4. Autismwhat is not • Not synonymous with mental retardation • Not related to IQ • Mental retardation is IQ below 70 plus problems in social or occupational functioning • Not the same as delays in developmental milestones or learning difficulties

  5. Theory of MindWhat does the boy thing is on the fishing line?

  6. Screening questions • Does your child take an interest in other children? • Does your child ever point to things with the index finger to indicate interest in something? • Does your child ever bring you objects to show you? • Does your child imitate you? For example facial expression. • Does your child respond if you call his name? • If you point to something across the room, does your child look at it?

  7. Neurobiology • No evidence linking MMR vaccine • 1st birthday videos • Fusiform gyrus for pts and relatives • “Who’s afraid of Virginia Wolfe” • Theory of Mind (Baron-Cohen) • Mirror neurons - pars opercularis inf orbital frontal cortex  Social stories (carol gray)

  8. Visual tracking of faces • People with autism viewing movie attend to different parts of the face compared to normal controls Klin 2002 Arch Gen Psych

  9. Autism • First described in 1943 by Leo Kanner • Can show signs as early as 6 months • Trouble with intersubjectivity - understanding what others think/feel • Theory of mind • Myths- MMR vaccine, low b vitamin

  10. Autism • 1 in 150 children has autism (M>F; 4:1) • 3/4 are mentally retarded • Lower IQ associated with greater risk of seizures and poor outcomes • 25-50% develop sz’s, often as adolescent • Increased concordance monzygotic twins • Idiot savants only 10% of pts with autism • Larger brain size by age 1, abnl fusiform gyrus fxn

  11. Autism • Co-occurs with many other medical conditions. Work up may include: • Genetic screening or chromosomal analysis (fragile X etc.) • Brain imaging to r/o tuberous sclerosis • EEG and neurologic consult

  12. Autism • Best predictor of prognosis is language function at age 5 • Wait times to get into programs can be lengthy • Treatment mainly psychosocial • School programs, social skills, teaching theory of mind (carol gray’s social stories), parent education, respite for parents, support groups

  13. Importance of an Early Diagnosis • Facilitates earlier educational planning • Participation in intensive early intervention programs during toddler and preschool years improves long-term outcome for many children • May ease family problems • Identifies the need for family support and education • Introduces strategies designed to help manage stress • Ensures early delivery of appropriate medical care 1. Committee on Children With Disabilities. Pediatrics. 2001;107:E85. 2. Filipek PA et al. Neurology. 2000;55:468-479.

  14. Children and Adolescents With Autistic Disorder: The Treatment Team General or Developmental Pediatrician Child Psychiatrist Pediatric Neurologist Effective patient care may include an interdisciplinary treatment team Psychologist Speech Pathologist Teachers Social Worker Parents The Autism Society. Accessed 11.15.06

  15. Behavioral Problems in Autism • Associated Symptoms: • Agitation or aggression • Hyperactivity • Irritability • Self-injurious behaviors • Temper Tantrums • Inflexible behavior • When they emerge, these behavioral problems may have serious consequences for children and their families

  16. Pharmacology • No curative medication • Only to relieve symptoms • End up on all kinds of medications • Stimulants, antidepressants, mood stabilizers, antipsychotics • Be cautious about medication interactions and the number of meds

  17. Pharmacology • Stimulants were thought to be contraindicated in past • Do not work as well for inattention in this population as basis for inattention different (I.e. not traditional ADHD) • Often have more side effects than for other kids

  18. Pharmacology • Serotinergic agents used for rigid or “obsessive” qualities • Restricted range of interests • Stereotypies • Tantrums due to trouble with transitions • SSRIs & buspirone – evidence equivocal in RCTs

  19. Pharmacology • Mood stabilizers may help with impulsive aggression or “explosive” behavior - more recent studies indicate limited use • Lithium, divalproex sodium, carbamazepine, oxcarbazine • Blood draws can limit usefulness • Can be difficult to assess toxicity

  20. Pharmacologyantipsychotics • Many kids on chlorpromazine or thioridazine in past (rapid titration) • Now use atypical antipsychotics • Risperidone and aripiprazole studies in popn with autism and found to hyperactivity and irritability • Risperidone FDA approved down to age 5 • Aripiprazole FDA approved down to age 6 • Lower doses than adults (start low go slow) • Weight gain more problematic in kids

  21. Compared to older medication • 43% difference btwn Risp and plc on Irritability scale - similar study with haloperidal showed 20% difference • 78% of kids on haloperidal had excessive sedation and 25% had an acute dystonic reaction • RUPP study 59% of kids had mild sedation and no dystonic reactions with risp Anderson LT J Autism Dev Disord 1989;19:227-39

  22. Summary • The core treatment for autism is psychosocial • Medication can be adjunctive to behavioral treatment • Targets of medication include rigid behaviors, aggression, irritability, hyperactivity and stereotypies • Further info: • • Cure autism now