Global health measures from a National Down Syndrome Registry

Am J Med Genet A. 2023 Aug;191(8):2092-2099. doi: 10.1002/ajmg.a.63243. Epub 2023 May 14.

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).

Keywords: Down syndrome; global health; health; health-related quality of life; trisomy 21.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Down Syndrome* / diagnosis
  • Down Syndrome* / epidemiology
  • Global Health
  • Humans
  • Patient Reported Outcome Measures
  • Quality of Life*
  • Surveys and Questionnaires