自闭症谱系障碍中的微生物组生物标志物：迈向预测、诊断和预后
Microbiome biomarkers in autism spectrum disorder: Toward prediction, diagnosis, and prognosis.
摘要(中文译文)
自闭症谱系障碍（ASD）是一种异质性疾病，缺乏客观的诊断生物标志物，常导致干预延迟。越来越多的证据通过微生物群-肠-脑轴将肠道微生物群失调与ASD的病理生理学联系起来，提示其具有可行的转化应用前景。本综述概述了来自临床前和临床研究的机制性见解，以阐明微生物紊乱如何影响神经发育。本文考察了生物标志物研究从早期16S rRNA测序到结合功能整合、多组学和基因组变异的先进鸟枪法宏基因组学的演变。这些进展提高了诊断准确性和可推广性。尽管临床因果证据仍是间接的，但这些微生物特征在早期诊断、症状前风险预测和个体化治疗方面显示出潜力。关键挑战包括在不同队列中进行前瞻性验证、针对合并症的特异性检测以及应对临床异质性。通过总结方法学空白并提供未来指导，本综述旨在弥合机制研究与临床实践之间的差距，以改善整个谱系的结局。
Abstract
Autism spectrum disorder (ASD) is a heterogeneous condition that lacks objective diagnostic biomarkers, often resulting in delayed intervention. Evidence increasingly links gut microbiota dysregulation to ASD pathophysiology via the microbiota-gut-brain axis, suggesting plausible translational applications. This review outlines mechanistic insights from preclinical and clinical studies to illustrate how microbial disturbances affect neurodevelopment. It examines the evolution of biomarker research from early 16S rRNA sequencing to advanced shotgun metagenomics incorporating functional integration, multi-omics, and genomic variants. Such advancements enhance diagnostic accuracy and generalizability. Although clinical causal evidence remains indirect, these microbial signatures show potential for early diagnosis, presymptomatic risk prediction, and tailored therapies. Key challenges include prospective validation in diverse cohorts, specificity testing against comorbidities, and addressing clinical heterogeneity. By summarizing methodological gaps and providing future guidance, this review aims to bridge mechanistic research and clinical practice to improve outcomes across the spectrum.
如何引用
AMA
Oscar Wong, Zhijie Zheng, Mingbang Wang, Aihua Cao, Francis K L Chan, Siew C Ng, et al. Microbiome biomarkers in autism spectrum disorder: Toward prediction, diagnosis, and prognosis.. Cell reports. Medicine. 2026; doi:10.1016/j.xcrm.2026.102780.
APA
Oscar Wong, Zhijie Zheng, Mingbang Wang, Aihua Cao, Francis K L Chan, Siew C Ng, et al (2026). Microbiome biomarkers in autism spectrum disorder: Toward prediction, diagnosis, and prognosis.. Cell reports. Medicine. https://doi.org/10.1016/j.xcrm.2026.102780
GB/T 7714
Oscar Wong, Zhijie Zheng, Mingbang Wang, Aihua Cao, Francis K L Chan, Siew C Ng, et al. Microbiome biomarkers in autism spectrum disorder: Toward prediction, diagnosis, and prognosis.[J]. Cell reports. Medicine, 2026 doi:10.1016/j.xcrm.2026.102780.
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