Global health measures from a <scp>N</scp>ational <scp>D</scp>own <scp>S</scp>yndrome <scp>R</scp>egistry-Reference-Cited by-同舟云学术

Global health measures from a National Down Syndrome Registry

Published:2023-05-14 Issue:8 Volume:191 Page:2092-2099
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Santoro Stephanie L.¹²^ORCID,Haugen Kelsey¹,Donelan Karen³⁴^ORCID,Skotko Brian G.¹²^ORCID

Affiliation:

1. Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics Massachusetts General Hospital Boston Massachusetts USA

2. Department of Pediatrics Harvard Medical School Boston Massachusetts USA

3. Health Policy Research Center The Mongan Institute, Survey Research Unit, Massachusetts General Hospital Boston Massachusetts USA

4. Institute of Healthcare Systems Heller School for Social Policy and Management, Brandeis University Waltham Massachusetts USA

Abstract

AbstractPeople 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).

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63243

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5. Estimation of the number of people with Down syndrome in the United States

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