孤独症谱系障碍中性别差异的研究进展  

Advances in research on gender differences in autism spectrum disorders

作　　者：姜桐桐(综述) 李秀琼(综述) 赵婷婷(综述) 李宏玉(审校)[1,2] 唐强(审校) JIANG Tong-Tong;LI Xiu-Qiong;ZHAO Ting-Ting;LI Hong-Yu;TANG Qiang(Department of Rehabilitation,Second Affiliated Hospital of Heilongjiang University of Chinese Medicine,Harbin 150001,China)

机构地区：[1]黑龙江中医药大学,黑龙江哈尔滨150040 [2]黑龙江中医药大学附属第二医院康复科,黑龙江哈尔滨150001 [3]黑龙江省脑功能与神经功能康复重点实验室,黑龙江哈尔滨150040

出　　处：《中国当代儿科杂志》2025年第4期480-486,共7页Chinese Journal of Contemporary Pediatrics

基　　金：黑龙江省自然科学基金重点项目(LH2020H079)。

摘　　要：孤独症谱系障碍(autism spectrum disorder,ASD)是一种以社交障碍、刻板行为和兴趣狭隘为主要特征的神经系统发育障碍性疾病。研究表明,男性发病率显著高于女性。尽管早在20世纪该问题已引起学界关注,但导致ASD性别差异的具体机制至今尚未明确。该文从女性保护效应、DNA甲基化、激素水平及临床表现等方面对ASD性别差异的影响进行综述,并探讨相应的治疗方案,特别是在最易被忽视的诊断环节上提出改进措施,以期为ASD的临床诊疗提供参考依据。Autism spectrum disorder(ASD)is a neurodevelopmental disorder characterized by social impairments,repetitive behaviors,and restricted interests.Studies have shown that it is more prevalent in males than females.Although this issue has attracted academic attention since the 20th century,the specific mechanisms underlying the gender differences in ASD remain unclear.This paper reviews the impact of gender differences in ASD,focusing on the female protective effect,DNA methylation,hormone levels,and clinical manifestations.It also discusses corresponding treatment options,particularly suggesting improvements in the diagnostic process,which is often overlooked,in order to provide valuable references for the clinical diagnosis and treatment of ASD.

关 键 词：孤独症谱系障碍 性别差异 女性保护效应 遗传学 激素水平 表观遗传学 DNA甲基化 

分 类 号：R749.94[医药卫生—神经病学与精神病学]