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孤独症谱系障碍(autistic spectrum disorder,ASD)是一组严重影响儿童健康、具有显著临床和病因异质性的神经发育障碍性疾病。近年ASD的患病率急剧上升,已成为全球关注的公共卫生问题。ASD的病因至今未明,许多学者认为是遗传因素和多种环境因素共同作用的结果,其中遗传因素起主要作用。多种环境因素,如母孕期和围产期压力和各种生物学因素;有毒化学物质和污染物;感染、免疫和代谢等都被报道与ASD发病相关。ASD典型的临床症状包括社会交往障碍,语言交流障碍以及重复、刻板的行为。新标准将以往ASD诊断标准中的3个核心症状减少为2个。ASD治疗应以个体化的综合干预为主,同时兼顾早期干预和终身照管。本文就ASD的流行病学、病因学、诊断和治疗方面的研究进展作简要介绍。
Autistic spectrum disorder (ASD) is a group of neurodevelopmental disorders with significant clinical and etiological heterogeneity that affect children’s health severely. The sharp rise in prevalence of ASD in recent years has become a global public health concern. The etiology of ASD is still unknown. Many scholars think it is the combination of genetic factors and various environmental factors, of which genetic factors play a major role. Various environmental factors, such as pregnancy and perinatal stress and various biological factors; toxic chemicals and contaminants; infection, immunity and metabolism are all reported to be associated with the onset of ASD. Typical clinical symptoms of ASD include social communication disorders, language barriers, and repetitive and stereotypical behaviors. The new standard reduces the three core symptoms of previous ASD diagnostic criteria to two. ASD treatment should be based on individualized comprehensive intervention, taking into account the early intervention and lifelong care. This article gives a brief introduction of the epidemiology, etiology, diagnosis and treatment of ASD.