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孤独症谱系障碍（ASD）又称为自闭症，是一系列以社交障碍与重复刻板行为/兴趣狭窄为主要特征的神经发育障碍性疾病，其发病机制复杂，缺乏有效治疗药物，部分病例预后不良。近年研究不断揭示，ASD患者普遍存在肠道菌群紊乱（拟杆菌门/厚壁菌门比例异常）、肠道屏障功能受损（血清连蛋白及脂多糖水平升高）和肠道免疫异常（白细胞介素-6、肿瘤坏死因子-α等促炎因子升高）等特征。提示胃肠道异常可能通过神经内分泌、免疫调节和代谢途径影响中枢神经系统发育。基于此，不断有学者提出可通过饮食干预缓解ASD儿童的临床症状。本文系统总结了肠道菌群及其代谢产物改变在ASD发生发展中的作用及其微生物-肠-脑轴机制新进展，并简要阐述了限制性饮食疗法、改良饮食疗法和补充营养素疗法对ASD儿童健康的促进作用及其相关生物学基础，发现ASD患儿存在显著的肠道菌群失调（如梭菌属增多、粪杆菌属减少）及代谢产物异常（如短链脂肪酸谱改变、硫酸4-乙基苯酯水平升高），这些变化通过微生物-肠-脑轴加剧神经炎症与免疫紊乱，进而影响神经系统发育与功能。同时，生酮饮食、骆驼奶及特定营养素补充等干预措施可通过调节菌群、修复肠屏障、改善代谢等途径缓解部分ASD症状。未来研究应重点关注建立多组学评估体系识别潜在获益人群，开发基于微生物组学特征的个性化干预方案，采用更多大规模随机对照试验验证其疗效和安全性，推动ASD治疗从症状管理向病因治疗的转变，为改善患者预后提供新思路。
Abstract：Autism spectrum disorder(ASD), also known as autism, is a series of neurodevelopmental disorders characterized by social disorders and repetitive stereotyped behaviors/narrow interests. Its pathogenesis is complex, and there is a lack of effective treatment drugs, with some cases having adverse outcomes. Recent studies have consistently revealed that individuals with autism spectrum disorder(ASD) commonly exhibit characteristics such as gut microbiota dysbiosis(abnormal Bacteroidetes/Firmicutes ratio), impaired intestinal barrier function(elevated serum levels of zonulin and LPS), and intestinal immune dysregulation(increased pro-inflammatory cytokines including IL-6 and TNF-α), suggesting that gastrointestinal abnormalities may influence central nervous system development through neuroendocrine, immunoregulatory, and metabolic pathways. Consequently, growing scholarly attention has focused on dietary interventions as potential approaches to alleviate clinical symptoms in children with ASD. This review systematically summarizes the role of gut microbiota and their metabolite alterations in ASD pathogenesis, along with recent advancements in understanding the microbiota-gut-brain axis mechanisms. Additionally, it elaborates on the therapeutic effects and underlying biological basis of restrictive diet therapy, modified diet therapy, and nutritional supplementation therapy in promoting the health of children with ASD. This systematic review reveals that children with ASD exhibit significant gut microbiota dysbiosis(e. g., increased Clostridium, decreased Faecalibacterium) and abnormal metabolite profiles(e. g., altered short-chain fatty acid spectra, elevated 4 EPS levels). These alterations exacerbate neuroinflammation and immune dysregulation through the microbiota-gut-brain axis, thereby impacting nervous system development and function. Furthermore, interventions such as ketogenic diets, camel milk, and specific nutritional supplements can alleviate certain ASD symptoms by modulating gut microbiota, restoring intestinal barrier function, and improving metabolic pathways. Future investigations should aim to create multi-omics evaluation systems for pinpointing potential beneficiaries, devise individualized intervention strategies rooted in microbiome characteristics, and verify their therapeutic value and safety in large-scale randomized controlled trials. These efforts are crucial to transitioning ASD treatment from symptomatic control to address disease etiology, thereby paving the way for improving prognoses.
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基本信息:
DOI：10.19405/j.cnki.issn1000-1492.2026.02.026
中图分类号:R749.94
引用信息:
[1]郝明悦,常佳俊,张志华,等.孤独症谱系障碍的微生物-肠-脑轴调控机制与靶向饮食干预的研究进展[J].安徽医科大学学报,2026,61(02):376-386.DOI:10.19405/j.cnki.issn1000-1492.2026.02.026.
基金信息:
国家自然科学基金项目（编号：81973064）~~
2026-01-29
2026-01-29
2026-01-29