Division of Developmental Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Am J Med Genet C Semin Med Genet. 2023 Dec;193(4):e32072. doi: 10.1002/ajmg.c.32072. Epub 2023 Oct 24.
Individuals with Down syndrome (DS) experience a range of medical and neurodevelopmental conditions, necessitating systematic study of their occurrence and impact on neurodevelopmental outcomes. We describe the prevalence and relationships of medical, neurodevelopmental (ND), and mental health (MH) conditions in children with DS. We created a prospective clinical database of individuals with DS, integrated into the workflow of a specialty Down Syndrome Program at a specialty pediatric referral hospital. Conditions were collected through caregiver- and clinician report at clinical visits (N = 599). We calculated frequencies of medical, ND, and MH conditions and then assessed the relationship between medical, ND, and MH conditions using frequencies and comparative statistics. The most frequent co-occurring conditions were vision (72.5%), ear/hearing (71.0%), gastrointestinal (61.3%), respiratory (45.6%), and feeding (33.6%) problems, with variation in frequency by age. ND and MH conditions were reported in one quarter, most commonly autism spectrum disorder and attention-deficit/hyperactivity disorder. Those with ND and MH conditions had greater frequency of medical conditions, with highest rates of vision, ear/hearing, and gastrointestinal issues, and CHD. Systematically collected clinical data in a large cohort of children with DS reveals high prevalence of several co-occurring medical, ND, and MH conditions. Clinical care requires an understanding of the complex relationship between medical conditions and neurodevelopment.
个体患有唐氏综合征(DS)会经历一系列的医疗和神经发育状况,因此需要对这些状况的发生及其对神经发育结果的影响进行系统研究。我们描述了患有 DS 的儿童的医疗、神经发育(ND)和心理健康(MH)状况的流行率和关系。我们创建了一个唐氏综合征专业计划的前瞻性临床数据库,该计划整合到一家专业儿科转诊医院的工作流程中。通过临床就诊时的照顾者和临床医生报告收集了这些状况(N=599)。我们计算了医疗、ND 和 MH 状况的频率,然后使用频率和比较统计评估了医疗、ND 和 MH 状况之间的关系。最常见的共发状况是视力(72.5%)、耳部/听力(71.0%)、胃肠道(61.3%)、呼吸系统(45.6%)和喂养(33.6%)问题,且其频率随年龄而变化。四分之一的儿童报告有 ND 和 MH 状况,最常见的是自闭症谱系障碍和注意力缺陷/多动障碍。那些有 ND 和 MH 状况的儿童患医疗状况的频率更高,其视力、耳部/听力和胃肠道问题以及 CHD 的发生率最高。在患有 DS 的大量儿童中系统收集的临床数据显示,几种共发的医疗、ND 和 MH 状况的流行率很高。临床护理需要了解医疗状况和神经发育之间的复杂关系。