孤独症谱系障碍发病机制研究进展
Research Progress on the Pathogenesis of Autism Spectrum Disorder
DOI: 10.12677/acm.2025.1582347, PDF,    科研立项经费支持
作者: 葛 玲, 高群婷：济宁医学院临床医学院(附属医院)，山东 济宁；李学斌：滨州市人民医院儿科，山东 滨州；杨 灿, 李秋波*：济宁医学院附属医院临床医学院儿科，山东 济宁
关键词: 孤独症谱系障碍；发病机制；生物分子；基因突变；环境因素；Autism Spectrum Disorder； Pathogenesis； Biomolecule； Gene Mutations； Environmental Factors
摘要: 孤独症谱系障碍(Autism spectrum disorder, ASD)是一组异质性的神经发育疾病，其特征是早发性社交困难以及异常受限、重复的行为和兴趣。全球人口中自闭症谱系障碍(ASD)的患病率约为1%，但具体数据会因地区和人群而异。ASD对男性的影响多于女性个体，并且合并症很常见(70%患有并发疾病)。近年来，ASD的患病率持续上升，但其发病机制尚未明确。本文综合以往文献资料，从免疫、肠道菌群、生物分子、信号通路及基因靶点等五个方面对ASD的发病机制进行了阐述。
Abstract: Autism constitutes a diverse set of neurodevelopmental disorders, marked by early social impairments and unusually narrow, repetitive behaviors and interests. The prevalence of autism spectrum disorder (ASD) in the global population is about 1%, but the number is specific. It varies by region and population. ASD affects more men than individual women, and comorbidities are common (70% have intercurrent conditions). Recently, the prevalence of ASD has been rising annually, yet its pathogenesis remains elusive. Combined with the previous literature, the pathogenesis was summarized into five aspects: immunity, intestinal flora, biomolecules, signaling pathways and gene targets.
文章引用：葛玲, 高群婷, 李学斌, 杨灿, 李秋波. 孤独症谱系障碍发病机制研究进展[J]. 临床医学进展, 2025, 15(8): 1159-1167. https://doi.org/10.12677/acm.2025.1582347

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