孤独症是一种病因不明的广泛性发育障碍疾病,它是孤独症谱系障碍的代表疾病,发病年龄早,大多在3岁以内起病,以社会交往障碍,言语交流障碍,动作行为的重复刻板和兴趣范围狭窄为三大临床核心症状。孤独症发病率呈逐年增高趋势,我国患者量已超过一百万。但是迄今为止仍没有特异的方法与手段对孤独症进行彻底有效地诊治,为社会和家庭带来了沉重的负担,因此,其发病机制是迫切需要研究的难题。目前国际上公认为遗传因素在孤独症的发病中起着重要作用,但对于致病基因的确定仍不明确。突触后致密物(PSD)在中枢神经系统神经递质和信息的传递过程中起重要作用,影响学习记忆及认知相关功能,而孤独症患者存在认知相关功能损伤的表现,二者可能存在一定的联系。本文对PSD基因功能以及与孤独症关系的研究加以综述,希望有助于孤独症的病因学研究,以期早日改善该病的诊疗及预防。 Autism is a generalized developmental disorder with unknown etiology. It is a typical disease of autism spectrum disorder. The age of onset is early, most of them are within 3 years of age. The disorder is characterized by social interaction disorder, verbal communication disorder and repeated behavior of action And the narrow scope of interest for the three major clinical core symptoms. The incidence of autism is increasing year by year, the number of patients in China has more than one million. However, so far there are still no specific methods and means to diagnose and treat autism completely and effectively, which imposes a heavy burden on society and families. Therefore, its pathogenesis is an urgent problem to be studied. Currently internationally recognized as a genetic factor in the pathogenesis of autism plays an important role, but the determination of the causative gene is still not clear. Postsynaptic density (PSD) plays an important role in the transmission of neurotransmitters and information in the central nervous system, affecting learning and memory and cognitive-related functions, whereas autistic patients have cognitive-related impairment of function, both of which may There is a certain connection. This review summarizes the studies on the function of PSD gene and autism, hoping to contribute to the etiology of autism, with a view to improve the diagnosis and treatment of the disease as soon as possible.