孤独症谱系障碍早期遗传诊断和治疗研究进展

Advances in the early genetic diagnosis and treatment of autism spectrum disorders

孤独症谱系障碍是一种严重的神经发育障碍,童年早期起病,主要临床特点为社会交往障碍、刻板重复行为和兴趣范围狭窄。其病因学极其复杂,为一组多基因疾病,是遗传因素、表观遗传因素和环境因素共同作用的结果。本文中将围绕孤独症谱系障碍遗传病因学方面的早期诊断和治疗研究进行综述。

Autism spectrum disorder is a severe neurodevelopmental disorder that begins in early childhood and is clinically characterized by impaired social interactions,rigid and repetitive behaviors,and narrow interests.The etiology of autism spectrum disorder is very complex.It is a group of polygenic diseases,which is the result of genetic,epigenetic,and environmental factors.This article reviews the early diagnosis and treatment of autism spectrum disorder based on the findings of genetic etiology.