Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Am J Med Genet A. 2023 Aug;191(8):2092-2099. doi: 10.1002/ajmg.a.63243. Epub 2023 May 14.
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).
唐氏综合征（DS）患者具有独特的医学特征，这可能会影响他们的健康观。我们旨在通过 DS-Connect®注册中心前瞻性调查 DS 患者的父母，使用经过验证的患者报告结局测量信息系统（PROMIS®）全球健康测量工具来研究 DS 患者的全球健康指标。分析包括使用评分手册和 PROMIS®评分服务、描述性统计和 t 检验。我们收到了 223 名 DS 患者家长的完整调查回复，该工具之前在该人群中的局限性再次得到了证实。疲劳（p<0.001）和全球健康（p<0.001）的 T 评分与 PROMIS®参考人群的可比标准化评分存在差异，但疼痛干扰（p=0.41）没有差异。
