2016-2019 年参加医疗补助计划的成人中马赛克唐氏综合征的发生率和并发症的流行率。

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2024-06-25 DOI:10.1002/ajmg.c.32097
Eric Rubenstein, Salina Tewolde, Brian G Skotko, Amy Michals, Juan Fortea
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引用次数: 0

摘要

背景:马赛克唐氏综合征是指 21 号染色体在部分而非全部细胞中出现三倍体。人们对马赛克唐氏综合征的流行病学知之甚少。我们描述了 2016 年至 2019 年期间,94533 名参加医疗补助计划的患有任何唐氏综合征的成人中,马赛克唐氏综合征的患病率和常见慢性病的并发率:我们使用《国际疾病和相关健康问题分类》第十版的马赛克唐氏综合征代码识别马赛克唐氏综合征,并与非马赛克唐氏综合征代码进行比较。我们使用既定算法确定了慢性疾病,并比较了马赛克患病率:总共有 1966 人(2.08%)申请了马赛克唐氏综合征的治疗。马赛克不因性别或种族/民族而异,年龄分布相似。与无嵌合现象的患者相比,有嵌合现象的患者更可能患有自闭症(13.9% 对 9.6%)和注意缺陷多动障碍(17.7% 对 14.0%)。总的来说,22.3%的嵌合型唐氏综合征患者和 21.5%的无嵌合型唐氏综合征患者声称患有阿尔茨海默氏痴呆症(患病率差异:0.8;95% 置信区间:-1.0,2.8)。与非嵌合组相比,嵌合组患阿尔茨海默氏痴呆症的风险是非嵌合组的 1.19 倍(95% 置信区间:1.0,1.3):讨论:马赛克现象可能与某些神经发育和神经退行性疾病(包括阿尔茨海默氏症)的高易感性有关。我们的研究结果挑战了以往关于唐氏综合征中马赛克保护作用的假设。要更深入地探讨这些关联,还需要进一步的研究。
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Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016-2019.

Background: Mosaic Down syndrome is a triplication of chromosome 21 in some but not all cells. Little is known about the epidemiology of mosaic Down syndrome. We described prevalence of mosaic Down syndrome and the co-occurrence of common chronic conditions in 94,533 Medicaid enrolled adults with any Down syndrome enrolled from 2016 to 2019.

Methods: We identified mosaic Down syndrome using the International Classification of Diseases and Related Health Problems, tenth edition code for mosaic Down syndrome and compared to those with nonmosaic Down syndrome codes. We identified chronic conditions using established algorithms and compared prevalence by mosaicism.

Results: In total, 1966 (2.08%) had claims for mosaic Down syndrome. Mosaicism did not differ by sex or race/ethnicity with similar age distributions. Individuals with mosaicism were more likely to present with autism (13.9% vs. 9.6%) and attention deficit hyperactivity disorder (17.7% vs. 14.0%) compared to individuals without mosaicism. In total, 22.3% of those with mosaic Down syndrome and 21.5% of those without mosaicism had claims for Alzheimer's dementia (Prevalence difference: 0.8; 95% Confidence interval: -1.0, 2.8). The mosaic group had 1.19 times the hazard of Alzheimer's dementia compared to the nonmosaic group (95% CI: 1.0, 1.3).

Discussion: Mosaicism may be associated with a higher susceptibility to certain neurodevelopmental and neurodegenerative conditions, including Alzheimer's dementia. Our findings challenge previous assumptions about its protective effects in Down syndrome. Further research is necessary to explore these associations in greater depth.

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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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