Abstract：
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the dystrophin gene. Deficiency of the dystrophin protein causes not only motor, but also cognitive, language, behavioural and social emotional problems. This is the first systematic review investigating five early developmental domains in boys with DMD between 0 and 6 years old. Interactions between different domains and links with mutation types and sites were explored. A systematic search was performed in PubMed, Web of Science and Scopus. An adapted version of the Scottish Intercollegiate Guidelines Network (SIGN) Checklists for case-control and cohort studies was used to evaluate quality. Fifty-five studies of high or acceptable quality were included. One was an RCT of level 1b; 50 were cohort studies of level 2b; and four were an aggregation of case-control and cohort studies receiving levels 2b and 3b. We found that young boys with DMD experienced problems in all five developmental domains, with significant interactions between these. Several studies also showed relationships between mutation sites and outcomes. We conclude that DMD is not only characterised by motor problems but by a more global developmental delay with a large variability between boys. Our results emphasise the need for harmonisation in evaluation and follow-up of young boys with DMD. More high-quality research is needed on the different early developmental domains in young DMD to facilitate early detection of difficulties and identification of associated early intervention strategies.
摘要：
Duchenne肌营养不良症（DMD）是一种由肌营养不良蛋白基因突变引起的X连锁隐性疾病。肌营养不良蛋白的缺乏不仅导致运动，还有认知，语言,行为和社会情绪问题。这是第一个系统评价，调查了0至6岁之间患有DMD的男孩的五个早期发育领域。探索了不同结构域之间的相互作用以及与突变类型和位点的联系。在PubMed中进行了系统的搜索，WebofScience和Scopus用于病例对照和队列研究的苏格兰大学间指南网络（SIGN）清单的改编版本用于评估质量。纳入了55项高质量或可接受的研究。一个是1b级的RCT；50个是2b级的队列研究；四个是接受2b和3b级的病例对照和队列研究的集合。我们发现患有DMD的小男孩在所有五个发育领域都遇到了问题，它们之间有显著的相互作用。一些研究还显示了突变位点与结果之间的关系。我们得出的结论是，DMD的特征不仅在于运动问题，而且还在于更全球性的发育迟缓，男孩之间的差异很大。我们的结果强调了对患有DMD的年轻男孩的评估和随访进行协调的必要性。需要对年轻DMD的不同早期发育领域进行更多高质量的研究，以促进早期发现困难和识别相关的早期干预策略。
