autism (autistic spectrum disorder, ASD)

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Introduction

Communication disorder of childhood, distinct from schizophrenia (DSM-IV) characterized by morbidly self-centered, wishful thinking.

Etiology

* children with autism their younger siblings are undervaccinated compared with unaffected children[78]

Epidemiology

  • prevalence of 0.05-1%[10]; 1.1% of children[20]
    • 2.1% in Utah (highest); 0.48% in Alabama (lowest)
    • prevalence higher in boys (1.85%) than in girls (0.4%)
    • variation might be attributable to diagnostic practices, underrecognition of ASD symptoms in some racial/ethnic groups, socioeconomic disparities in access to services, & regional differences in clinical or school-based reporting practices[41][47]
    • prevalence similar in white & black children[90]
    • 1 in 40-60 children with autism[84]; 1 in 54 by age 8[90]
  • associated with advanced paternal age[3]
  • 4 times as common in boys than girls
  • median age at diagnosis is 52 months[79]; 33 months[90]
  • mean annual precipitation positively correlates with autism prevalence[6] (California, Oregon, Washington)
  • 85% of children with autism have developmental concerns documented in the medical record by age 36 months, but only 42% receive a full evaluation[79]

Pathology

Genetics

Physical examination

  • because patients with autism have difficulty with physical contact, physical examination should be limited to essential maneuvers, performed slowly, & explained in detail before proceeding[11]

Clinical manifestations

  • onset prior to age 3
  • see diagnostic criteria
  • unaffected siblings may show some autistic features[13]
  • attention-deficit/hyperactivity disorder symptoms may mask underlying autism in young children[55]
  • manifestations somewhat at odds with diagnostic criteria[11]
    • persistent deficits in communication & social interaction associated with impaired function
      • inability to read body language
    • repetitive, inflexible non-functional behaviors

Diagnostic criteria

  • qualitative impairment in reciprocal social interaction:
    • marked lack of awareness of the existence of feelings of others
      • treats a person as if he or she was a piece of furniture
      • does not notice another person's distress
      • apparently has no concept of the need of others for privacy
    • failure or abnormality in seeking comfort at times of distress
      • does not come for comfort even when ill, hurt or tired
      • seeks comfort in stereotyped way (e.g. may repeat some irrelevant word when hurt)
    • failure of, impaired or otherwise abnormal imitation
      • does not wave goodbye
      • does not copy mother's domestic activities
      • mechanically imitates others' actions out of context
    • absence of or abnormal social play
      • does not actively participate in simple games
      • prefers solitary play activities
      • involves other children in play only as mechanical aids
    • gross impairment in ability to make peer friendships
      • no interest in making peer friendships
      • lack of understanding of essential principals of social interactions
  • qualitative impairment in verbal & non-verbal communication & in imaginative activity
    • no mode of communication
    • markedly abnormal nonverbal communication
    • absence of imaginative activity
      • no playacting
      • lack of interest in imaginary events
    • marked abnormalities in the form or content of speech - volume, pitch, stress, rate, rhythm, intonation
    • marked abnormalities in the form or content of speech -
    • marked impairment in the ability to initiate or sustain a conversation
  • restricted repertoire of activities & interests
    • stereotyped body movements
    • persistent preoccupation with parts of objects
    • marked distress over changes in trivial aspects of the environment
    • unreasonable insistence on following routine in precise detail
    • markedly restricted range of interests & a preoccupation with one narrow interest
  • onset during infancy or childhood

* At least 8 of 16 criteria, including:

  • 2 from qualitative impairment in reciprocal social interaction
  • 1 from impairment in communication
  • 1 from restricted repertoire of activities

Laboratory

* also see ARUP consult[89]

Radiology

Complications

Differential diagnosis

Management

Comparative biology

Notes

  • lifetime cost of supporting a child with autism is $1.4-$2.4 million[45]
    • most of the costs in childhood are related to special education
    • most of the costs in adulthood, they are due to residential accommodation, medical care, & loss of productivity[45]

More general terms

More specific terms

Additional terms

References

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