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Development and Validation of a Health Measure for Down Syndrome.

Stephanie L Santoro1, Ashlee Campbell2, Maria Cabrera2

  • 1Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.

The Journal of Pediatrics
|November 5, 2025
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Summary

A new caregiver-reported health measure for Down syndrome (DS) shows strong psychometric properties. This tool aids in understanding health needs and improving care for individuals with DS.

Keywords:
down syndromehealthsurveytrisomy 21validation

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Area of Science:

  • Pediatric Health
  • Down Syndrome Research
  • Psychometric Evaluation

Background:

  • Down syndrome (DS) health management requires tailored assessment tools.
  • Existing measures may not fully capture the health status of individuals with DS from a caregiver perspective.

Purpose of the Study:

  • To develop and validate a caregiver-reported health measure for individuals with Down syndrome (DS).
  • To create a tool that assesses overall health in individuals with DS aged 0-21 years.

Main Methods:

  • A 25-item survey was developed and administered to 542 caregivers of individuals with DS.
  • Psychometric properties including internal consistency, test-retest reliability, construct validity, and known-group validity were evaluated.
  • Confirmatory factor analysis identified 7 scales across 3 domains.

Main Results:

  • The Down Syndrome Health Measure demonstrated excellent item response and distribution properties.
  • The measure showed acceptable to excellent internal consistency (Cronbach's α: 0.7734-0.9587) and moderate to excellent test-retest reliability (ICC: 0.711-0.942).
  • The measure successfully differentiated individuals with DS from those with autism spectrum disorder.

Conclusions:

  • The 25-item caregiver-reported Down Syndrome Health Measure possesses acceptable psychometric properties.
  • This validated tool can enhance understanding of health needs and improve management strategies for children and adolescents with DS.