Down Syndrome Clinic and Research Center, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Adult Down Syndrome Clinic, Christiana Care Health System, Wilmington, Delaware, USA.
Am J Med Genet A. 2020 Jul;182(7):1832-1845. doi: 10.1002/ajmg.a.61604. Epub 2020 Apr 27.
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.
唐氏综合征(DS)患者是一个独特的群体,他们需要临床指南来解决他们的医疗需求。许多这些病症都具有公共卫生重要性,有可能制定出筛查建议,以改善对这一人群的临床护理。我们的工作组之前已经确定并优先考虑了唐氏综合征成人的共病情况。在这项研究中,我们再次对另外六种具有临床重要性的共病情况进行了详细的文献检索。为了指导文献检索策略,我们预先制定了一系列关键问题(KQ)。我们的 KQ 主要关注疾病的流行率、严重程度、风险因素、筛查/评估方法、对发病率的影响以及潜在的成本/效益。提取、评估并对质量进行分级。各条件的参与者数量和临床研究设计因条件而异,并且往往不足以回答大多数 KQ。根据我们的审查,我们对髋关节发育不良、更年期、获得性心脏瓣膜病、2 型糖尿病、血液疾病和吞咽困难的发现进行了总结。很少有证据表明我们的临床知识存在明显差距,这影响了对这些医疗复杂个体的临床决策和管理。只有在解决了这些差距之后,才能为这一人群创建基于证据的临床指导。