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Autism Spectrum Disorders

Autism Spectrum Disorders is a topic covered in the 5-Minute Clinical Consult.

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  • Group of neurodevelopmental disorders of early childhood: DSM-5: umbrella term autism spectrum disorders (ASDs) which combines autistic disorder, childhood disintegrative disorder, Asperger disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), early infantile autism, childhood autism, Kanner autism, high-functioning autism, and atypical autism (1)[A]
  • Two symptom-driven subtypes: impairment of effective social skills and absent or impaired communication skills
  • Fixed interests/repetitive behaviors
  • Repetitive and/or stereotyped behaviors and interests, especially in inanimate objects (2)[A]
  • Severity levels
    • Level 1: requiring support
    • Level 2: requiring substantial support
    • Level 3: requiring very substantial support
  • Important to distinguish autism disorder from social (pragmatic) communication disorder. Separate DSM-5 criteria for individuals with social communication deficits but do not meet autism-spectrum criteria.


  • Predominant age: onset in early childhood
  • Predominant sex: male > female (4.5:1)

Pediatric Considerations
Symptom onset seen in children <3 years of age (except for childhood disintegrative disorder)

  • According to the Centers for Disease Control and Prevention (CDC), an estimated prevalence of 1/68
  • Among children aged 3 to 17 years within the United States, there was found to be a 2.2% (22.4 in 1,000) parent-reported prevalence.

Etiology and Pathophysiology

  • No single cause has been identified.
  • General consensus: A genetic abnormality leads to altered neurologic development.
  • No scientific evidence relating vaccines, such as vaccines for measles, mumps, or rubella (MMR), or thimerosal causing ASDs
  • Pathophysiology is not fully understood.

  • High concordance in monozygotic twins
  • Increased recurrence risk (2–18%) in subsequent siblings

Risk Factors

  • Having an affected sibling confers 5 times greater risk of developing autism.
  • Advanced parental age

General Prevention

  • Early screening for early intervention means a better prognosis.
  • Some ASDs are caused by genetic disorders.
  • Economic costs
    • An additional $17,000 to $21,000 is an estimated cost for raising an ASD child.
    • Due to caretaker burden, family earnings are found to be 28% less among families with ASD compared to children without health conditions.

Commonly Associated Conditions

  • Mental retardation, ADHD, anxiety, depression, or obsessive behavior
  • Phenylketonuria (PKU), tuberous sclerosis, fragile X syndrome, Angelman syndrome, and fetal alcohol syndrome (rare)
  • Seizures (increased risk if severe mental retardation)
  • Maternal use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy
  • Sleep issues: insomnia, circadian rhythm sleep-wake disorder, sleep-related movement disorder

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Stephens, Mark B., et al., editors. "Autism Spectrum Disorders." 5-Minute Clinical Consult, 27th ed., Wolters Kluwer, 2019. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117395/all/Autism_Spectrum_Disorders.
Autism Spectrum Disorders. In: Stephens MB, Golding J, Baldor RA, et al, eds. 5-Minute Clinical Consult. 27th ed. Wolters Kluwer; 2019. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117395/all/Autism_Spectrum_Disorders. Accessed April 21, 2019.
Autism Spectrum Disorders. (2019). In Stephens, M. B., Golding, J., Baldor, R. A., & Domino, F. J. (Eds.), 5-Minute Clinical Consult. Available from https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117395/all/Autism_Spectrum_Disorders
Autism Spectrum Disorders [Internet]. In: Stephens MB, Golding J, Baldor RA, Domino FJ, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2019. [cited 2019 April 21]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117395/all/Autism_Spectrum_Disorders.
* Article titles in AMA citation format should be in sentence-case
TY - ELEC T1 - Autism Spectrum Disorders ID - 117395 ED - Stephens,Mark B, ED - Golding,Jeremy, ED - Baldor,Robert A, ED - Domino,Frank J, BT - 5-Minute Clinical Consult, Updating UR - https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/117395/all/Autism_Spectrum_Disorders PB - Wolters Kluwer ET - 27 DB - Medicine Central DP - Unbound Medicine ER -