Gaydos Stephanie S, Benitez Andreana, Nietert Paul J, McHugh Kimberly E, Atz Andrew
Division of Pediatric Cardiology, Department of Pediatrics, MUSC Shawn Jenkins Children's Hospital, Medical University of South Carolina, 10 McClennan Banks Dr. (MSC915), Charleston, SC, 29425, USA.
Department of Neurology, Medical University of South Carolina, Charleston, SC, 29425, USA.
Pediatr Cardiol. 2025 Jul 31. doi: 10.1007/s00246-025-03979-2.
To evaluate whether having congenital heart disease (CHD) mediates community engagement, neuropsychiatric conditions, and quality of life (QOL) in adults with Down syndrome (DS). Cross-sectional survey of adults ages 18-45 years with DS and their caregiver, identified from NIH DS Registry, regional DS groups, and Cardiology clinics. The study survey consisted of adapted instruments (validated or prior use in this cohort) assessing medical history, employment/volunteer experience, QOL, mental health, and caregiver burden. Primary outcome was employment. Outcomes were compared between DS groups with and without CHD via Chi-squared test, t tests, and two proportion Z tests as appropriate. 287 subjects completed the study. Adults with DS and CHD (n = 104, 36%) reported similar employment rates as those without CHD: 61% and 60%, respectively (p = 0.87). Current volunteerism was significantly higher in DS + CHD subjects (32%) compared to DS alone (19%); p = 0.01. There were higher rates of stroke and seizure in DS + CHD (p < 0.01 for both), although no significant difference in psychological comorbidities (p = 0.67). 69% of all DS adults reported mental health problems. Proxy-reported mean QOL scores were similar between DS groups (p = 0.52). Mild-moderate caregiver burden was reported in both groups, with significantly greater burden reported in guardians of DS + CHD (p = 0.03). CHD is not associated with reduced employment or community engagement in adults with DS, despite significantly greater neurologic comorbidities. Similar QOL and mental health issues were reported in adults with DS regardless of having CHD. Findings may convey optimism to families of children born with both health issues.
评估患有先天性心脏病（CHD）是否会介导唐氏综合征（DS）成人的社区参与度、神经精神疾病和生活质量（QOL）。对年龄在18 - 45岁的DS成人及其照顾者进行横断面调查，这些人是从美国国立卫生研究院（NIH）的DS登记处、地区性DS群体和心脏病诊所中识别出来的。研究调查包括经过改编的工具（在该队列中经过验证或先前使用过），用于评估病史、就业/志愿者经历、生活质量、心理健康和照顾者负担。主要结局是就业情况。根据情况，通过卡方检验、t检验和双比例Z检验比较有CHD和无CHD的DS群体之间的结局。287名受试者完成了研究。患有DS和CHD的成人（n = 104，36%）报告的就业率与无CHD的成人相似：分别为61%和60%（p = 0.87）。与仅患有DS的成人（19%）相比，患有DS + CHD的受试者当前的志愿服务率显著更高（32%）；p = 0.01。患有DS + CHD的成人中风和癫痫发作的发生率更高（两者p均<0.01），尽管心理合并症方面无显著差异（p = 0.67）。所有DS成人中有69%报告有心理健康问题。代理报告的平均生活质量得分在DS群体之间相似（p = 0.52）。两组均报告有轻度至中度的照顾者负担，DS + CHD患者的监护人报告的负担明显更重（p = 0.03）。尽管神经合并症明显更多，但CHD与DS成人就业减少或社区参与度降低无关。无论是否患有CHD，DS成人报告的生活质量和心理健康问题相似。这些发现可能会给同时患有这两种健康问题的儿童家庭带来乐观情绪。
