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Updated: Jul 30, 2025

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
Published on: March 7, 2025
Global health measures from a National Down Syndrome Registry
Stephanie L Santoro1,2, Kelsey Haugen1, Karen Donelan3,4
1Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
Abstract:
People with Down syndrome (DS) have a unique medical profile which may impact views of health. We aimed to study the use of global health measures for DS in a national cohort. We prospectively surveyed parents of individuals with DS from the DS-Connect® registry with validated Patient Reported Outcomes Measurement Information System (PROMIS)® instruments of global health. Analyses included use of scoring manuals and the PROMIS® scoring service, descriptive statistics, and t-tests. We received completed surveys from 223 parents of individuals with DS; previously published limitations of the instrument in this population were shown again. T-scores differed from the available comparative standardized scores to these measures from PROMIS® reference population on Fatigue (p < 0.001) and Global Health (p < 0.001), but not on Pain Interference (p = 0.41).
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