Announcing New Down Syndrome Health Measure

The Developmental Subcommittee of the T21RS Clinical Committee is pleased to highlight a new study addressing a critical gap in how we assess the health of children and adolescents with Down syndrome (DS). This work introduces a caregiver-reported measure specifically designed to capture health features that are unique to individuals with DS and often overlooked by general assessment tools. We encourage clinicians and researchers worldwide to consider learning about and adopting this measure as a practical way to more accurately and consistently evaluate health in this population.

Below, we provide concise summaries to help communicate the significance and potential impact of this study to a range of audiences. Lastly, we invite parents to try out the measure and provide feedback.

Description for general scientists and medical professionals:

Dr. Santoro and colleagues developed a Down Syndrome Health Measure through a 5-year project to create and validate a caregiver-reported instrument for assessing overall health in children and adolescents with Down syndrome (DS). Existing tools, such as PedsQL and PROMIS, were designed for the general population and do not fully capture DS-specific health features or symptom presentations.

To address this gap, we generated and refined a pool of survey questions and administered the resulting instrument to a national cohort of 542 caregivers. Using standard psychometric approaches, we identified a final 25-item measure comprising 7 subscales, across 3 domains. Subscales included: social, behavior, coping, fatigue, daily physical function, constipation, and low tone. Three domains of health consisted of social, mental, and physical health. The instrument demonstrated strong internal consistency and moderate to excellent test–retest reliability. Subscale and total scores showed robust correlations with independent clinical and educational assessments, supporting construct validity. The measure also demonstrated known-group validity by distinguishing DS from non-DS cohorts.

This instrument provides a standardized, DS-specific measure of health status that complements existing general tools. While it does not replace clinical evaluation, it offers a scalable, caregiver-informed approach to capturing multidimensional health profiles in DS, with potential applications in clinical care, research studies, and longitudinal monitoring.

Future work will extend this measure through translation into additional languages, development of self-report versions for adolescents and young adults with DS, and evaluation in more diverse populations. Further studies may also refine or expand item coverage to capture less common but clinically meaningful features and assess sensitivity to change over time in clinical and intervention settings.

Description for lay audience:

Dr. Santoro and colleagues developed a convenient and effective survey for caregivers to measure the overall health in children and adolescents with Down syndrome (DS) that we call the Down Syndrome Health Measure.

Until now, clinicians have relied on general health surveys (such as PedsQL or PROMIS), which were not designed for individuals with DS and can miss important features such as low muscle tone or constipation, or fail to reflect how symptoms appear in people with DS. To address this gap, we designed and tested a DS-specific survey. In a national study, 542 caregivers completed a refined version with a focused set of the most informative questions.

The final 25 questions capture 7 key areas of health across 3 broader domains. Responses were consistent over time and aligned well with independent clinical and educational assessments. Importantly, the survey captures health patterns that are specific to individuals with DS.

Although this caregiver survey does not replace clinical evaluation or existing general tools, it provides a DS-specific, caregiver-informed measure that better reflects common health patterns. It offers a simple, reliable way for caregivers to share meaningful information, helping clinicians and families better understand health needs and guide care.

Invitation

Dr. Santoro invites parents to try out the survey online: https://redcap.link/DSHM

Feedback will improve future iterations.

Article

Santoro SL, Campbell A, Cabrera M, Co JPT, Donelan K, Haugen K, Krell K, Shaffer M, Skotko BG, Winickoff JP, Witt M, Constantine M. Development and Validation of a Health Measure for Down Syndrome. J Pediatr. 2026 Feb;289:114888. doi: 10.1016/j.jpeds.2025.114888. Epub 2025 Nov 4. PMID: 41192789; PMCID: PMC12697375. LINK