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What is autism spectrum disorder?

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social communication and interaction, and restricted and repetitive behavior and activities. By definition, this disorder exists on a spectrum of severity with great variance between affected individuals. The prevalence of ASD is 1% and is roughly four times more common in men than women.

The current diagnosis of autism spectrum disorder now encompasses previous, outdated diagnoses related to autism: early infantile autism, childhood autism, Kanner's autism, high0functioning autism, atypical autism, pervasive developmental disorder not otherwise specified, childhood integrative disorder, and Asperger's disorder.

What does ASD look like?

Risk Factors

  • Highly heritable
  • Roughly 15% of cases may be associated with de novo genetic mutation
  • Advanced parental age
  • Low birth weight
  • Fetal exposure to valproate

Prognosis

  • Lack of social and communication abilities may impact learning
  • Some adults may have difficulty establishing independence
  • Many individuals may have difficulty living independently and obtaining employment

Differential Diagnosis

  • Rett syndrome
  • Selective mutism
  • Language disorders
  • Social (pragmatic) communication disorder
  • Attention-deficit/hyperactivity disorder
  • Intellectual disability
  • Stereotypic movement disorder
  • Schizophrenia

How is ASD investigated?

  • Genome-wide microarray analysis
  • Fragile X syndrome testing and sequencing of PTEN gene for individuals with a large head circumference
  • Screening tools:
    • Autism Spectrum Quotient (AQ) (Adult, Adolescent, and Child versions)
    • Quantitative Checklist for Autism in Toddlers (Q-CHAT)
    • Modified Checklist for Autism in Toddlers, Revised (M-CHAT-R)

How is ASD treated?

  • Applied behavioral analysis (ABA)

References

[1] American Psychiatric Association. (2013). Diagnostic and Statistical Manual of Mental Disorders (5th ed.). Arlington, VA.

[2] Boyd, M. A. (2019). Psychiatric & mental health nursing for Canadian practice. Wolters Kluwer.

[3] Townsend, M. C. (2015). Psychiatric mental health nursing. F.A. Davis.