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Medical evaluation in suspected ASD


Macrocephaly+caf -au-lait spots suggests NF Ash leaf spots +/- adenoma sebaceum suggests TS Microcephaly associated medical conditions more common poor growth, ... – PowerPoint PPT presentation

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Title: Medical evaluation in suspected ASD

Medical evaluation in suspected ASD
  • Lisa D. Benaron, MD
  • Medical Director
  • Far Northern Regional Center

Why bother?
  • Almost every parent wants to know why their child
    has developmental problems
  • May have consequences in terms of family
    planning/recurrence risk
  • Diagnosis might not be what you think it is
  • Some evidence to suggest that sub-typing by cause
    of ASD may lead to more specific, effective

Components of a comprehensive medical exam for ASD
  • Physical exam with emphasis on neurodevelopmental
  • Developmental Neurologic evaluation
  • Genetic testing and referral if indicated
  • Neurologic tests when appropriate (e.g., EEG,
    Head MRI)
  • Other lab testing (as appropriate) I.e.,serum
    amino acids, urine organic acids,
  • Vision screening and referral to Opth. if
  • Hearing testing (usually requires audiologist)

What clues are in the PE?
  • Macrocephalycafé-au-lait spots suggests NF
  • Ash leaf spots /- adenoma sebaceum suggests TS
  • Microcephaly
  • associated medical conditions more common
  • poor growth, flat nasal bridge and flattened
    philtrum/thin vermillion border suggest FAS or
  • Presence of major or minor dysmorphic features
    may suggest syndrome
  • Cleft palate or sub-mucous cleft, nasal voice
    cardiac anomaly suggests Velo-cardio-facial (VCF)

Important info from a simple test Head
  • Microcephaly present in 15 of ASD
  • Strongly associated with presence of a medical
  • tuberous sclerosis, chromosomal abnormalities,
    Infantile spasms, Lennox-Gastaut, brain damage
    and malformative syndromes
  • Predicts poorer outcome
  • More likely to have IQ lt55, seizures

Developmental Neurologic Exam
  • Are there abnormalities of tone, weakness,
    problems with gross/fine motor, cranial nerve
    function, coordination, abnormal reflexes, ataxia
    (cerebellar function)?
  • Abnormalities need further investigation if not
    commonly associated with ASD (The neurologic
    exam in autism is remarkable for the absence of
    findings From Handbook of Autism and PDD)
  • Necessary to plan intervention. Individuals with
    ASD may or may not have neurologic abnormalities

Genetic testing
  • Vast majority of ASD of unknown etiology
    (recurrence/twin studies suggest genetic cause)
  • Fragile X accounts for 4- 7 (DNA probe for
    FMR-1 gene)
  • Abnormal Karyotype (At least one case reports for
    every chromosome ) Frequency? Probably lt1
  • 15q duplication (test by ordering FISH for
    PW/Angelmans) 1-4
  • Tuberous sclerosis Complex 0.4-3
  • 17-60 of TSC with MR meet criteria for autism

Other tests?
  • Only if there is a separate indication (other
    than ASD) such as seizures, microcephaly,
    unexplained neurologic exam findings.
  • Definite need for further testing for any
    individual with significant motor regression or
    significant loss of previously acquired skills
    (with the exception of language regression
    between ages 1-3)

How well are we doing?
  • NBRC chart review of 31 evaluations for ASD
  • Required physical exam, neurodevelopmental exam,
    genetic testing and consultation, vision, hearing
  • Results 22.6 had all of the components done

Whats in the way?
  • Parental preference
  • Failed attempts at testing resulting in default
    (lab errors, problems with cooperation)
  • Confusion Who should be ordering the tests? Who
    should follow-up?
  • ? Inadequate communication between consultants
    and PCP?

Ideas for improvement?
  • Letter to parents explaining need for each
  • Check list for Primary care physician and
    Regional Center?
  • Other ideas?