Duchenne型肌营养不良患儿共患神经发育障碍研究进展

Research progress on neurodevelopmental disorders in children with Duchenne muscular dystrophy

Duchenne型肌营养不良(DMD)是由编码抗肌萎缩蛋白基因的致病性突变导致的X-连锁隐性遗传病。越来越多研究证实DMD患儿共患神经发育障碍的高风险性, 且相关共患病具有一定临床特征。现就DMD患儿神经发育障碍的研究进展进行综述, 以期了解DMD患儿神经发育障碍的患病率、临床特征及高危因素。DMD治疗团队在临床工作中应重视神经发育障碍相关评估、解读及早期干预, 以改善DMD患儿生活质量, 助其更好地融入社会。

Duchenne muscular dystrophy(DMD)is a disease inherited in an X-linked recessive pattern,which is caused by the pathogenic mutation of the gene encoding Dystrophin.An increasing number of studies have confirmed the high risk of neurodevelopmental disorders in children with DMD,and that related comorbidities have distinct clinical characteristics.In this article,the research progress on neurodevelopmental disorders in children with DMD was reviewed to clarify the prevalence,clinical characteristics and high-risk factors of neurodevelopmental disorders in children with DMD.DMD therapy teams should pay attention to the evaluation,interpretation and early intervention of neurodevelopmental disorders in clinic practice,so as to improve the life quality of DMD children and help them to be-tter integrate into the society.