唐氏综合征并发疾病:临床数据库的研究结果。

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2023-12-01 Epub Date: 2023-10-24 DOI:10.1002/ajmg.c.32072
Nicole T Baumer, Margaret A Hojlo, Katherine G Pawlowski, Anna L Milliken, Angela M Lombardo, Sabrina Sargado, Cara Soccorso, Emily J Davidson, William J Barbaresi
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引用次数: 0

摘要

唐氏综合征(DS)患者经历了一系列的医学和神经发育状况,需要对其发生情况及其对神经发育结果的影响进行系统研究。我们描述了DS儿童的医学、神经发育(ND)和心理健康(MH)状况的患病率和关系。我们创建了一个DS患者的前瞻性临床数据库,该数据库集成到儿科专科转诊医院的唐氏综合症专科项目的工作流程中。通过护理人员和临床医生在临床就诊时的报告收集病情(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数据评估了医疗、ND和MH状况之间的关系。最常见的合并疾病是视力(72.5%)、耳朵/听力(71.0%)、胃肠道(61.3%)、呼吸系统(45.6%)和进食(33.6%)问题,其频率随年龄而变化。据报道,四分之一的患者患有ND和MH,最常见的是自闭症谱系障碍和注意力缺陷/多动障碍。患有ND和MH的患者出现疾病的频率更高,视力、耳朵/听力、胃肠道问题和CHD的发生率最高。在一个大型DS儿童队列中系统收集的临床数据显示,几种同时发生的医学、ND和MH疾病的患病率很高。临床护理需要了解医疗条件和神经发育之间的复杂关系。
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Co-occurring conditions in Down syndrome: Findings from a clinical database.

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.

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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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