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Screening for autism spectrum disorders in children with Down syndrome: population prevalence and screening test

Carolyn DiGuiseppi1, Susan Hepburn, Jonathan M Davis

  • 1Department of Epidemiology, Colorado School of Public Health, University of Colorado Denver, Aurora, CO 80045, USA. Carolyn.DiGuiseppi@ucdenver.edu

Journal of Developmental and Behavioral Pediatrics : JDBP
|April 9, 2010
PubMed

Insights

Children with Down syndrome have a significantly higher prevalence of autism spectrum disorders (ASD) than the general population. Early identification and specific screening tools are crucial for timely intervention.

Area of Science:

  • Pediatric Neurology
  • Developmental Pediatrics
  • Genetics

Background:

  • Autism spectrum disorders (ASD) represent a significant neurodevelopmental challenge.
  • Down syndrome is a common genetic disorder associated with developmental delays.
  • The co-occurrence of ASD in children with Down syndrome requires further investigation.

Purpose of the Study:

  • To determine the prevalence of ASD in children with Down syndrome.
  • To evaluate the characteristics of ASD screening tests in this population.
  • To inform the development of targeted screening and diagnostic strategies.

Main Methods:

  • A population-based cohort of children with Down syndrome was recruited.
  • Screening for ASD was conducted using the modified checklist for autism in toddlers and the social communication questionnaire.
  • Developmental evaluations were performed for screen-positive and a subset of screen-negative children.

Main Results:

  • The weighted prevalence of autistic disorder was 6.4% and total ASD was 18.2%.
  • ASD prevalence increased with greater cognitive impairment.
  • Screening tests demonstrated high sensitivity (87.5%) but low specificity (49.9%) in this population.

Conclusions:

  • Children with Down syndrome exhibit a substantially higher prevalence of ASD compared to the general population.
  • Current ASD screening tools show high sensitivity but may yield numerous false positives in children with Down syndrome.
  • Development of specific screening algorithms and diagnostic methods for ASD in children with Down syndrome is essential for effective early intervention.
Abstract

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