Autism

1. Epidemiology
   1. Gender Predisposition: Males by 2 to 4:1 ratio
   2. Incidence
      1. Pervasive Developmental Disorder: 63 per 10,000
      2. Autism Spectrum Disorders: Affects up to one of every 150 children
         1. Increased Incidence (Prior Incidence was 6 per 10,000)
         2. Autism Incidence if sibling has Autism: 3-7%
2. Causes
   1. Idiopathic (80% of cases)
   2. Associated Factors
      1. Rubella infection
      2. Cytomegalovirus infection
      3. Herpes Simplex Virus Infection
      4. Anoxic brain injury
      5. Thalidomide
      6. Low birth weight
      7. Genetic component
      8. Tuberous sclerosis
      9. Untreated Phenylketonuria
      10. Fragile X Syndrome
      11. Down Syndrome
      12. Fetal Alcohol Syndrome
   3. Disproved factors (not associated with Autism)
      1. Mercury preserved vaccines
      2. Yeast infection
      3. Celiac Sprue
      4. Casein allergy
      5. Measles Mumps Rubella Vaccine (MMR)
         1. Taylor (1999) Lancet 353:2026-9
         2. DeStafano (2000) J Pediatr 136:125-6
3. Types: Pervasive Developmental Delay (PDD)
   1. Autism Spectrum Disorders (classic childhood Autism)
      1. Unlikely to function independently as adults
   2. Asperger Disorder
      1. Social deficits, narrow interests and clumsiness
      2. IQ exceeds 70
   3. Disintegrative Disorder
      1. Normal development until age 2 to 10 years
      2. Sudden and dramatic regression
         1. Affects social, verbal and cognitive skills
         2. Permanent deficits
   4. Rett Syndrome
      1. X-linked trait and only occurs in girls
      2. Severe mental retardation and unable to walk or talk
      3. Associated with Epilepsy
   5. Pervasive Developmental Delay, not otherwise specified
      1. Autism not consistent with other subtypes
4. Associated Conditions
   1. Intellectual Disability (41% Prevalence)
   2. Maladaptive Behaviors
      1. Self-Injury Behavior
      2. Aggressive Behavior
   3. Seizure Disorder (11-39% Prevalence)
      1. Screening with EEG is not recommended unless signs, symptoms suggest this
      2. Have a high index of suspicion for Epilepsy in autistic patients
      3. Risk increases with girls and if comorbid intellectual Disability
   4. Gastrointestinal disorders
      1. Chronic or recurrent Abdominal Pain
      2. Diarrhea
      3. Constipation
      4. May provoke daytime behavior problems (see maladaptive behaviors above)
   5. Insomnia and other sleep disorders (common)
      1. Circadian rhythm disturbance
      2. Periodic limb movements of sleep
   6. Mood Disorders (common)
      1. Major Depression
      2. Anxiety Disorder
      3. Bipolar Disorder
      4. Obsessive-Compulsive Disorder
      5. Attention Deficit Hyperactivity Disorder
   7. Motor disorders
      1. Hypotonia
      2. Apraxia (poor motor planning)
      3. Clumsiness
      4. Toe walking
      5. Gross motor deficits
5. Symptoms: General
   1. Language deficits or regression (see below)
   2. Social skills impaired
      1. Social orienting absent (by age 9-12 months)
         1. Does not turn and make eye contact on hearing his or her name called
      2. Joint attention absent (by age 12-15 months)
         1. Does not turn and look at an object across room as directed by medical provider or caregiver
      3. Imperative pointing absent(by age 12-15 months)
         1. Does not point to request an object
      4. Declarative pointing absent (by age 18-24 months)
         1. Does not point for experience sharing
      5. Pretend play absent (by age 24 months)
   3. Inflexible
      1. Temper tantrums for changed routine
      2. Unimaginative monotonous play
   4. Sensory deficit
      1. Sound intolerance
      2. Gaze aversion
      3. Child stares at shadows
   5. Clumsiness
   6. Repetitive purposeless movements
      1. Provocative: Stress
      2. Palliative: Decreases as children grow older
      3. Examples
         1. Carries unusual comfort item (e.g. stick or rock)
         2. Repeatedly lines up objects in a row
         3. Hand flapping
         4. Rocking
         5. Pacing
6. Symptoms: Language deficits suggesting Autism
   1. All ages
      1. Language regression (ominous sign)
      2. Child will not turn to name
      3. Difficulties with language comprehension
      4. Mutism with rare spontaneous clear speech
   2. Toddlers
      1. Child does not point by one year
      2. Child does not speak words by 14 months
      3. Vocabulary includes less than 12 words by 18 months
      4. No two word sentences by 24 months
      5. No sentences by 36 months
      6. Delayed shake or nod to signify yes or no answers
   3. Preschool and older children
      1. Child does not answer questions
      2. Child "talks to talk," but does not communicate
      3. Echolalia
      4. Confuses pronouns (e.g. You and Me)
      5. Refers to self by name
      6. Child repeats overlearned expressions verbatim
      7. Child perseverates on a single favorite topic
      8. Unable to tell a story coherently
      9. Robotic, monotonous speech
         1. High-pitched
         2. Sing-song
         3. Lack of inflection
7. Evaluation
   1. Clinical evaluation
      1. Careful history and physical
      2. Careful Neurologic Exam
      3. Hearing Testing
   2. General Developmental Screening
      1. Parents' Evaluation of Developmental Status (PEDS)
      2. Ages and Stages Questionnaire (ASQ)
      3. Infant Development Inventory (IDI) and Child Development Review (CDR)
   3. Specific Autism Screening
      1. Indications for immediate evaluation
         1. Language or social regression
         2. Age 12 months: No babbling, pointing or gestures
         3. Age 16 months: No single words
         4. Age 24 months: No 2 word spontaneous phrases
      2. Tests
         1. Modified Checklist for Autism in Toddlers (M-CHAT)
            1. High efficacy, public domain survey
         2. Pervasive Developmental Disorders Screening (PDDST)
            1. Publisher: Porter Psychiatric Institute
            2. Phone: 415-476-7385
         3. Autism Screening Questionnaire
         4. Australian Scale for Asperger Syndrome
8. Differential Diagnosis: Autism
   1. Other Pervasive Developmental Disorder (see above)
   2. Selective Mutism
   3. Stereotypic Movement Disorder
   4. Childhood onset Schizophrenia
9. Labs (if indicated)
   1. Fragile X Testing
   2. Lead Level
   3. Urine for Phenylketonuria (if not screened as newborn)
10. Diagnostics (if indicated)
    1. Deep Sleep EEG
11. Management
    1. Arrange a multidisciplinary team
       1. Audiologist
       2. Developmental pediatrician or pediatric neurologist
       3. Genetic counselor (evaluate for associated syndromes)
       4. Occupational therapist
       5. Speech pathologist
       6. Social worker
       7. Child psychiatrist
       8. Child psychologist
    2. Early intervention
       1. Teach communication and socialization skills
       2. Augmented communication (e.g. letter board)
       3. Behavioral modification
          1. Structured environment
          2. Respond consistently to behaviors
             1. Reward desired behaviors
             2. Do not reward undesired behavior
             3. Shaping
                1. Reinforce behaviors near desired behavior
                2. Child steps closer and closer to goal
                3. Master simple skills and systematically build on these to develop more complex skills
          3. Lovaas Program (Discrete Trial Training)
             1. Behavioral techniques
             2. Intensive and expensive program for 2 years or more
             3. Short-term and long-term efficacy is unclear
       4. Developmental intervention
          1. Applies child development theory to Autism
          2. No evidence to support to date
       5. Structured Teaching (TEACCH Autism Program)
          1. Combines both behavioral and developmental methods
          2. Highly organized, structured environments present clear concrete visual information
          3. Evidence suggests significant improvement on motor and non-verbal skills
    3. Mainstream child in classroom
    4. Treat comorbid conditions
       1. Attention Deficit Disorder
       2. Manic Depression
12. Management: Medications
    1. Precautions
       1. Reserve medications for moderate to severe behaviors
          1. Medication adverse effects are common (especially atypical Antipsychotics)
          2. Use the lowest effective dose
       2. Efficacy of medications in Autism may be less effective than when used in patients without Autism
          1. SSRIs may have only modest effect on anxiety and may offer little benefit in repetitive behaviors
          2. Methylphenidate may have only marginal effect on ADHD in Autism
       3. References
          1. (2012) Presc Lett 19(5): 30
    2. Aggressive behaviors
       1. Fluvoxamine (Luvox)
          1. Has been studied in adults with Autism
          2. McDougle (1996) Arch Gen Psychiatry 53(11): 1001-8
       2. Aripiprazole (Abilify)
          1. Marcus (2009) J Am Acad Child Adolesc Pscyhiatry 48(11): 1110-9
       3. Risperidone (Risperdal) effective for short-term aggressiveness
          1. McCracken (2002) N Engl J Med 347:314-21
    3. Anxiety Disorder
       1. Fluoxetine (Prozac)
    4. Obsessive-compulsive symptoms (rigidity, repetition)
       1. Risperidone (Risperdal)
       2. Fluoxetine (Prozac)
       3. Fluvoxamine (Luvox)
    5. Hyperactivity, impulsivity or inattention
       1. Alpha-2 agonists such as Clonidine (Catapres) or gunafacine
       2. Atomoxetine (Strattera)
       3. Stimulants such as Methylphenidate (Ritalin)
    6. Sleep disorders
       1. Trazodone
       2. Melatonin
          1. Start 0.5 to 1 mg taken 30-60 minutes before bedtime
          2. Titrate to a maximum dose of 10 mg as needed
13. Resources
    1. Autism Society of America
       1. http://www.autism-society.org
       2. Phone: 800-328-8476
    2. Center for Study of Autism
       1. http://www.autism.org
    3. Association for Science in Autism Treatment
       1. http://www.asatonline.org
    4. Autism Speaks
       1. http://www.autismspeaks.org
    5. CDC Autism Resources
       1. http://www.cdc.gov/ncbddd/autism
    6. American Academy of Pediatrics Autism Resources
       1. http://www2.aap.org/healthtopics/autism.cfm
14. References
    1. Leventhal in Tasman (1997) Psychiatry, p. 650-667
    2. Carbone (2010) Am Fam Physician 81(4): 453-61
    3. Myers (2007) Pediatrics 120(5)
    4. Rapin (2001) JAMA 285:1749-57
    5. Robins (2008) Autism 12(5): 537-56
    6. Filipek (1999) J Autism Dev Disord 29:439-82
    7. Prater (2002) Am Fam Physician 66(9):1667-74