小脑异常发育与孤独症谱系障碍的关系  

The relationship between abnormal cerebellar development and Autism Spectrum Disorder

作　　者：涂海霞 翁旭初 徐波[1,2] TU Haixia;WENG Xuchu;XU Bo(School of Physical Education and Health Care,East China Normal University,Shanghai 200241,China;Key Laboratory of Adolescent Health Assessment and Exercise Intervention of Ministry of Education,East China Normal University,Shanghai 200241,China;Institute of Brain Research and Rehabilitation,South China Normal University,Guangzhou 510898,China)

机构地区：[1]华东师范大学体育与健康学院,上海200241 [2]华东师范大学青少年健康评价与运动干预教育部重点实验室,上海200241 [3]华南师范大学脑科学与康复医学研究院,广州510898

出　　处：《心理科学进展》2025年第4期565-573,共9页Advances in Psychological Science

基　　金：国家自然科学基金项目(No.31571225)资助。

摘　　要：尽管小脑体积只占人脑总量的10%,但包含超半数的神经元。此前,小脑一直被认为主要控制肢体的运动协调,但近年来越来越多的证据表明小脑与学习、注意、语言等高级认知功能密切相关,参与多种非运动功能的调节。与此同时,小脑异常发育与多种神经发育疾病密切相关,其中包括孤独症谱系障碍(Autism spectrum disorder,ASD),或称自闭症、孤独症,是一类典型的神经发育疾病,以社交障碍、重复刻板行为和语言障碍为主要特征,并常伴有感觉异常。临床研究发现,ASD患者通常伴有小脑结构与功能的改变。有意思的是,在ASD动物模型中也发现与人类似的小脑异常表型。重要的是,特异敲除小脑神经元中ASD易感基因可导致模式动物表现出典型的孤独症样行为,提示小脑异常发育是导致ASD的关键病理机制之一。将从临床及基础研究两个方面简要概括小脑与ASD的关系,为ASD的诊断和治疗提供了新的视角。Despite occupying only 10%of the total volume of the human brain,the cerebellum contains over half of its neurons.Traditionally viewed as primarily responsible for coordinating motor movements,increasing evidence in recent years suggests that the cerebellum is closely associated with higher cognitive functions such as learning,attention,memory,and language,participating in the regulation of various non-motor functions.Concurrently,abnormal cerebellar development has been closely linked to several neurodevelopmental disorders,including Autism Spectrum Disorder(ASD),characterized by social impairments,repetitive behaviors,and language deficits,often accompanied by sensory abnormalities.Clinical studies have found structural and functional alterations in the cerebellum of individuals with autism.Interestingly,similar cerebellar phenotypes have been observed in animal models of autism spectrum disorders.Importantly,specific knockout of autism susceptibility genes in cerebellar neurons can induce typical autism-like behaviors in model animals,suggesting that abnormal cerebellar development is a key pathological mechanism underlying autism spectrum disorders.The relationship between the cerebellum and ASD will be briefly summarized from both clinical and basic research perspectives,providing new insights for the diagnosis and treatment of ASD.

关 键 词：孤独症 小脑 结构功能 模式动物 

分 类 号：B845[哲学宗教—心理学]