Villamil Vanessa I, Downing Karrie F, Oster Matthew E, Andrews Jennifer G, Galindo Maureen K, Patel Jenil, Klewer Scott E, Nembhard Wendy N, Farr Sherry L
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia, USA.
Birth Defects Res. 2025 Feb;117(2):e2439. doi: 10.1002/bdr2.2439.
Almost half of individuals born with Down syndrome (DS) have congenital heart defects (CHDs). Yet, little is known about the health and healthcare needs of adults with CHDs and DS. Therefore, we examined comorbidities and healthcare utilization of this population.
Data were from the 2016-2019 Congenital Heart Survey to Recognize Outcomes, Needs, and well-beinG (CH STRONG), a survey of 19-38-year-olds with CHDs identified through birth defects registries in Arkansas, Arizona, and Atlanta. Outcome estimates were standardized to the CH STRONG eligible population. Multivariable Poisson regression generated adjusted prevalence ratios (aPRs) for associations between DS and each outcome, adjusting for covariates, including CHD severity.
Among 1500 respondents, 9.1% had DS. Compared to those without DS, respondents with DS were more commonly male (55.5% vs. 45.0%), < 25 years old (51.8% vs. 42.7%), non-Hispanic White (72.3% vs. 69.3%), and publicly insured (77.4% vs. 22.8%; all p < 0.05). Of adults with CHDs and DS, 5.5% had cardiac comorbidities, 19.3% had emergency room (ER) visits, 6.2% had hospital admissions, and 1.2% had cost-related delays in care in the last year; 0.1 to 0.6 times lower than adults with CHDs without DS. Additionally, 26.7% had non-cardiac comorbidities (aPR = 1.25 [0.92-1.72]), most commonly sleep apnea (13.7% vs. 3.2%, aPR = 3.67 [2.02-6.67]). Receipt of cardiology care in the last 2 years was similarly low (52.7% vs. 44.7%).
Adults with CHDs and DS comprise a substantial percentage of adults with CHDs and have unique health and healthcare needs. Half of adults with CHDs and DS are not receiving recommended routine cardiac care.
几乎一半患有唐氏综合征（DS）的人患有先天性心脏病（CHD）。然而，对于患有先天性心脏病和唐氏综合征的成年人的健康状况及医疗保健需求，我们知之甚少。因此，我们研究了这一人群的合并症及医疗保健利用情况。
数据来自2016 - 2019年先天性心脏病调查以认识结果、需求和幸福状况（CH STRONG），该调查针对通过阿肯色州、亚利桑那州和亚特兰大的出生缺陷登记处确定的19至38岁患有先天性心脏病的人群。结果估计值根据符合CH STRONG条件的人群进行了标准化。多变量泊松回归生成了唐氏综合征与每个结果之间关联的调整患病率比（aPRs），并对包括先天性心脏病严重程度在内的协变量进行了调整。
在1500名受访者中，9.1%患有唐氏综合征。与未患唐氏综合征的受访者相比，患有唐氏综合征的受访者男性比例更高（55.5%对45.0%），年龄小于25岁（51.8%对42.7%），非西班牙裔白人比例更高（72.3%对69.3%），且享有公共保险的比例更高（77.4%对22.8%；所有p < 0.05）。在患有先天性心脏病和唐氏综合征的成年人中，5.5%有心脏合并症，19.3%有急诊室就诊经历，6.2%有住院治疗，1.2%在过去一年因费用问题导致就医延迟；比未患唐氏综合征的先天性心脏病成年人低0.1至0.6倍。此外，26.7%有非心脏合并症（aPR = 1.25 [0.92 - 1.72]），最常见的是非心脏合并症是睡眠呼吸暂停（13.7%对3.2%，aPR = 3.67 [2.02 - 6.67]）。在过去2年接受心脏病护理的比例同样较低（52.7%对44.7%）。
患有先天性心脏病和唐氏综合征的成年人在患有先天性心脏病的成年人中占相当比例，且有独特的健康和医疗保健需求。患有先天性心脏病和唐氏综合征的成年人中有一半未接受推荐的常规心脏护理。
