Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records
Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records
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DOI：
10.1016/s2468-2667(23)00057-9
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发表时间：
2023-05-25
影响因子：
50
通讯作者：
Strydom, Andre
中科院分区：
文献类型：
--
作者：
Baksh, R. Asaad;Pape, Sarah E.;Strydom, Andre
唐氏综合症的表型已经确定，但我们对其发病模式的理解是有限的。我们综合评估了唐氏综合症患者与普通人群和其他形式智力残疾的对照组相比一生中多重发病的风险。方法在这个匹配的基于人群的队列研究设计中，我们使用了1990年1月1日至2020年6月29日来自英国临床实践研究数据链（CRPD）的电子健康记录数据。我们的目的是探索唐氏综合征患者与其他智力残疾患者和一般人群的整个生命周期的发病率模式，以确定综合征特异性健康状况及其与年龄相关的发病率。我们估计了每1000人年的发病率和32种常见疾病的发病率比（IRRs）。采用分层聚类方法，利用患病率数据确定相关疾病组。在1990年1月1日至2020年6月29日期间，共纳入10204名唐氏综合征患者、39814名对照组和69150名智障人士。与对照组相比，唐氏综合征患者痴呆（IRR 94.7, 95% CI 69.9-128.4）、甲状腺功能减退（IRR 10.6, 9.6-11.8）、癫痫（IRR 9.7, 8.5-10.9）和血液系统恶性肿瘤（IRR 4.7, 3.4-6.3）的风险增加，而哮喘（IRR 0.88, 0.79-0.98）、癌症（实体瘤IRR 0.75, 0.62-0.89）、缺血性心脏病（IRR 0.65, 0.51-0.85），尤其是高血压（IRR 0.26, 0.22-0.32）在唐氏综合征患者中的发生率低于对照组。与智障人士相比，唐氏综合症患者患痴呆（IRR 16.60, 14.23-19.37）、甲状腺功能减退（IRR 7.22, 6.62-7.88）、阻塞性睡眠呼吸暂停（IRR 4.45, 3.72-5.31）和血液系统恶性肿瘤（IRR 3.44, 2.58-4.59）的风险更高，三分之一的疾病发病率降低，包括新发牙炎（IRR 0.88, 0.78-0.99）、哮喘（IRR 0.82, 0.73-0.91）、癌症（实体瘤IRR 0.78, 0.65-0.93）、睡眠障碍（IRR 0.74, 0.68-0.80）、高胆固醇血症（IRR 0.69, 0.60-0.80）、糖尿病（IRR 0.59, 0.52-0.66）、情绪障碍（IRR 0.55, 0.50-0.60）、青光眼（IRR 0.47, 0.29-0.78）和焦虑症（IRR 0.43, 0.38-0.48）。唐氏综合征的发病率可以根据年龄相关的发病率轨迹进行分类，其患病率可分为典型综合征、心血管疾病、自身免疫性疾病和精神健康状况。唐氏综合征的多重发病率显示出与年龄相关的发病率轨迹和聚类的独特模式，与一般人群和其他智力残疾者的发病率轨迹和聚类不同，这对唐氏综合征患者的保健筛查、预防和治疗的提供和时机都有影响。版权所有(c) 2023作者。Elsevier Ltd.出版。这是一篇基于CC BY 4.0许可的开放获取文章。
Background The Down syndrome phenotype is well established, but our understanding of its morbidity patterns is limited. We comprehensively estimated the risk of multiple morbidity across the lifespan in people with Down syndrome compared with the general population and controls with other forms of intellectual disability.Methods In this matched population-based cohort-study design, we used electronic health-record data from the UK Clinical Practice Research Datalink (CRPD) from Jan 1, 1990, to June 29, 2020. We aimed to explore the pattern of morbidities throughout the lifespan of people with Down syndrome compared with people with other intellectual disabilities and the general population, to identify syndrome-specific health conditions and their age-related incidence. We estimated incidence rates per 1000 person-years and incidence rate ratios (IRRs) for 32 common morbidities. Hierarchical clustering was used to identify groups of associated conditions using prevalence data.Findings Between Jan 1, 1990, and June 29, 2020, a total of 10 204 people with Down syndrome, 39 814 controls, and 69 150 people with intellectual disabilities were included. Compared with controls, people with Down syndrome had increased risk of dementia (IRR 94.7, 95% CI 69.9-128.4), hypothyroidism (IRR 10.6, 9.6-11.8), epilepsy (IRR 9.7, 8.5-10.9), and haematological malignancy (IRR 4.7, 3.4-6.3), whereas asthma (IRR 0.88, 0.79-0.98), cancer (solid tumour IRR 0.75, 0.62-0.89), ischaemic heart disease (IRR 0.65, 0.51-0.85), and particularly hypertension (IRR 0.26, 0.22-0.32) were less frequent in people with Down syndrome than in controls. Compared to people with intellectual disabilities, risk of dementia (IRR 16.60, 14.23-19.37), hypothyroidism (IRR 7.22, 6.62-7.88), obstructive sleep apnoea (IRR 4.45, 3.72-5.31), and haematological malignancy (IRR 3.44, 2.58-4.59) were higher in people with Down syndrome, with reduced rates for a third of conditions, including new onset of dental inflammation (IRR 0.88, 0.78-0.99), asthma (IRR 0.82, 0.73-0.91), cancer (solid tumour IRR 0.78, 0.65-0.93), sleep disorder (IRR 0.74, 0.68-0.80), hypercholesterolaemia (IRR 0.69, 0.60-0.80), diabetes (IRR 0.59, 0.52-0.66), mood disorder (IRR 0.55, 0.50-0.60), glaucoma (IRR 0.47, 0.29-0.78), and anxiety disorder (IRR 0.43, 0.38-0.48). Morbidities in Down syndrome could be categorised on age-related incidence trajectories, and their prevalence clustered into typical syndromic conditions, cardiovascular diseases, autoimmune disorders, and mental health conditions.Interpretation Multiple morbidity in Down syndrome shows distinct patterns of age-related incidence trajectories and clustering that differ from those found in the general population and in people with other intellectual disabilities, with implications for provision and timing of health-care screening, prevention, and treatment for people with Down syndrome. Copyright (c) 2023 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license.