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. 2025 Nov 4:289:114888.
doi: 10.1016/j.jpeds.2025.114888. Online ahead of print.

Development and Validation of a Health Measure for Down Syndrome

Stephanie L Santoro  1 , Ashlee Campbell  2 , Maria Cabrera  2 , John Patrick T Co  3 , Karen Donelan  4 , Kelsey Haugen  2 , Kavita Krell  2 , Mikayla Shaffer  2 , Brian G Skotko  5 , Jonathan P Winickoff  3 , Mary Witt  2 , Melissa Constantine  6
Affiliations

Development and Validation of a Health Measure for Down Syndrome

Stephanie L Santoro et al. J Pediatr. .

Abstract

Objective: To develop a caregiver-reported measure to evaluate the overall health of individuals with Down syndrome (DS).

Study design: After developing and testing a pool of items, a survey was constructed and administered to a large national sample of caregivers of individuals with DS aged 0-21 years from February 2023 to February 2024; pediatricians and teachers were also surveyed. Item distribution and principal components analysis were performed, followed by confirmatory factor analysis. Internal consistency, test-retest reliability, construct validity, and known-group validity were evaluated.

Results: The survey was completed by 542 caregivers. Item response and distribution properties were excellent with minimal to no missing data, ceiling, or floor effects. Final confirmatory factor analysis with oblique rotation resulted in 7 scales across 3 domains (25 items) with acceptable to excellent internal consistency (Cronbach's α: 0.7734-0.9587) and moderate to excellent test-retest reliability (intraclass correlation coefficients: 0.711-0.942). The 7 subscale scores and the total score each correlated strongly, as hypothesized, with external measures (P < .001). Known-group validity demonstrated the ability to differentiate individuals with DS and individuals with autism spectrum disorder.

Conclusions: A 25-item caregiver Down Syndrome Health Measure consisting of 3 domains and 7 scales demonstrated acceptable psychometric properties. This measure can be utilized to better understand the health needs and improve the management of children and adolescents with DS.

Trial registration: ClinicalTrials.gov-NCT04631237.

Keywords: down syndrome; health; survey; trisomy 21; validation.

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Conflict of interest statement

Declaration of Competing Interest Funding was provided by K23HD100568 - Eunice Kennedy Shriver National Institute of Child Health & Human Development Departmental support (Mass General for Children). The funder/sponsor did not participate in this work. S.S. has received research funding from LuMind IDSC Down Syndrome Foundation to conduct clinical trials for people with DS within the past 2 years. She serves in a nonpaid capacity on the Medical and Scientific Advisory Council and the Executive Board of the Massachusetts Down Syndrome Congress, the Board of Directors of the Down Syndrome Medical Interest Group (DSMIG-USA), and the Executive Committee of the American Academy of Pediatrics Council on Genetics. B.S. occasionally consults on the topic of DS through the Gerson Lehrman Group. He receives remuneration from DS nonprofit organizations for speaking engagements and associated travel expenses. Within the past 2 years, he has received research funding from AC Immune and LuMind IDSC Down Syndrome Foundation to conduct clinical trials for people with DS. B.S. is occasionally asked to serve as an expert witness for legal cases where DS is discussed. B.S. serves in a nonpaid capacity on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress and the Professional Advisory Committee for the National Center for Prenatal and Postnatal Down Syndrome Resources. He has a sister with DS. The other authors do not have any conflicts to disclose.

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