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Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II.
American Journal of Medical Genetics Part A ( IF 1.7 ) Pub Date : 2020-04-27 , DOI: 10.1002/ajmg.a.61604
George Capone 1 , Mary Stephens 2 , Stephanie Santoro 3 , Brian Chicoine 4 , Peter Bulova 5 , Moya Peterson 6 , Joan Jasien 7 , Anna Jo Smith 8 ,
Affiliation  

Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. Many of these conditions are of public health importance with the potential to develop screening recommendations to improve clinical care for this population. Our workgroup previously identified and prioritized co‐occurring medical conditions in adults with DS. In this study, we again performed detailed literature searches on an additional six medical conditions of clinical importance. A series of key questions (KQ) were formulated a priori to guide the literature search strategy. Our KQs focused on disease prevalence, severity, risk‐factors, methodologies for screening/evaluation, impact on morbidity, and potential costs/benefits. The available evidence was extracted, evaluated and graded on quality. The number of participants and the design of clinical studies varied by condition and were often inadequate for answering most of the KQ. Based upon our review, we provide a summary of the findings on hip dysplasia, menopause, acquired cardiac valve disease, type 2 diabetes mellitus, hematologic disorders, and dysphagia. Minimal evidence demonstrates significant gaps in our clinical knowledge that compromises clinical decision‐making and management of these medically complex individuals. The creation of evidence‐based clinical guidance for this population will not be possible until these gaps are addressed.

中文翻译:

患有唐氏综合症的成年人的并发医疗状况:对医疗保健指南制定的系统评价。第二部分

唐氏综合症(DS)的成年人代表需要临床指导以解决其医疗问题的独特人群。这些疾病中有许多对公共卫生具有重要意义,并有可能制定筛查建议以改善该人群的临床护理。我们的工作组先前确定了患有DS的成人并确定其优先发生的共同疾病。在这项研究中,我们再次对具有临床重要性的其他六种医学状况进行了详细的文献检索。先验地提出了一系列关键问题(KQ),以指导文献检索策略。我们的KQ重点关注疾病的流行率,严重性,风险因素,筛查/评估方法,对发病率的影响以及潜在的成本/收益。对现有证据进行提取,评估和质量分级。参与者的数量和临床研究的设计因条件而异,通常不足以回答大多数的KQ。根据我们的评论,我们提供了关于髋关节发育不良,更年期,获得性心脏瓣膜疾病,2型糖尿病,血液系统疾病和吞咽困难的研究结果的摘要。最少的证据表明,我们的临床知识存在重大缺口,这些缺口损害了这些医疗复杂个体的临床决策和管理。在解决这些差距之前,不可能为该人群创建基于证据的临床指南。2型糖尿病,血液系统疾病和吞咽困难。最少的证据表明,我们的临床知识存在重大缺口,这些缺口损害了这些医疗复杂个体的临床决策和管理。在解决这些差距之前,不可能为该人群创建基于证据的临床指南。2型糖尿病,血液系统疾病和吞咽困难。最少的证据表明,我们的临床知识存在重大缺口,这些缺口损害了这些医疗复杂个体的临床决策和管理。在解决这些差距之前,不可能为该人群创建基于证据的临床指南。
更新日期:2020-06-22
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