Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, Massachusetts, USA.
Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.
Am J Med Genet A. 2021 Jan;185(1):286-299. doi: 10.1002/ajmg.a.61924. Epub 2020 Oct 19.
Pneumonia and respiratory infections impact infants and children with Down syndrome; pneumonia is a leading cause of mortality in adults with Down syndrome. We aimed to review the literature to evaluate gaps and address key questions. A series of key questions were formulated a priori to inform the search strategy and review process; addressed prevalence, severity, etiology, risk factors, preventive methods, screening, and financial costs, potential benefits or harms of screening. Using the National Library of Medicine database, PubMed, detailed literature searches on pneumonia and respiratory infections in Down syndrome were performed. Previously identified review articles were also assessed. The quality of available evidence was then evaluated and knowledge gaps were identified. Forty-two relevant original articles were identified which addressed at least one key question. Study details including research design, internal validity, external validity, and relevant results are presented. Pneumonia and respiratory infections are more prevalent and more severe in individuals with Down syndrome compared to healthy controls through literature review, yet there are gaps in the literature regarding the etiology of pneumonia, the infectious organism, risk factors for infection, and to guide options for prevention and screening. There is urgent need for additional research studies in Down syndrome, especially in the time of the current COVID-19 pandemic.
肺炎和呼吸道感染影响唐氏综合征患者的婴儿和儿童；肺炎是唐氏综合征患者死亡的主要原因。我们旨在回顾文献，以评估差距并解决关键问题。为了指导搜索策略和审查过程，我们预先制定了一系列关键问题；涉及患病率、严重程度、病因、危险因素、预防方法、筛查以及财务成本、筛查的潜在益处或危害。使用国家医学图书馆数据库，在 PubMed 上对唐氏综合征的肺炎和呼吸道感染进行了详细的文献检索。还评估了先前确定的综述文章。然后评估了可用证据的质量，并确定了知识空白。确定了 42 篇相关的原始文章，这些文章至少解决了一个关键问题。介绍了研究细节，包括研究设计、内部有效性、外部有效性和相关结果。通过文献回顾，唐氏综合征患者的肺炎和呼吸道感染比健康对照更为普遍和严重，但关于肺炎的病因、感染病原体、感染危险因素以及预防和筛查的选择，文献中存在空白。在唐氏综合征患者中，特别是在当前 COVID-19 大流行期间，迫切需要进行更多的研究。
