ISSN 1671-3710
CN 11-4766/R
主办:中国科学院心理研究所
出版:科学出版社

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小脑异常发育与孤独症谱系障碍的关系(孤独症的神经心理专栏稿件)

涂海霞, 翁旭初, 徐波   

  1. 华东师范大学
  • 收稿日期:2024-07-06 修回日期:2024-07-12 接受日期:2024-08-13

The relationship between abnormal cerebellar development and Autism Spectrum Disorder

TU Haixia, WENG Xuchu, XU Bo   

  • Received:2024-07-06 Revised:2024-07-12 Accepted:2024-08-13

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认知、注意力、记忆、语言等高级功能密切相关,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,自闭症患者通常伴有小脑结构与功能的改变。有意思的是,在自闭症样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自闭症易感基因可导致模式动物表现出典型的自闭症样行为,提示小脑异常发育是导致自闭症谱系障碍的关键病理机制之一。本综述将从临床及基础研究两方面简要概括小脑与自闭症的关系,为自闭症的诊治提供潜在的参考。

Abstract: 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 cognition, 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 deletion 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. This article briefly reviews the relationship between the cerebellum and autism from clinical and basic research perspectives, providing potential insights for the diagnosis and treatment of autism.

Key words: Keywords:Autism spectrum disorder, cerebellum, structural and functional, model animals