Variation of maternal gut microbiota may increase the risk of autism spectrum disorders (ASDs) in offspring. Animal studies have indicated that maternal gut microbiota is related to neurodevelopmental abnormalities in mouse offspring, while it is unclear whether there is a correlation between gut microbiota of ASD children and their mothers. We examined the relationships between gut microbiome profiles of ASD children and those of their mothers, and evaluated the clinical discriminatory power of discovered bacterial biomarkers. Gut microbiome was profiled and evaluated by 16S ribosomal RNA gene sequencing in stool samples of 59 mother–child pairs of ASD children and 30 matched mother–child pairs of healthy children. Significant differences were observed in the gut microbiome composition between ASD and healthy children in our Chinese cohort. Several unique bacterial biomarkers, such as Alcaligenaceae and Acinetobacter, were identified. Mothers of ASD children had more Proteobacteria, Alphaproteobacteria, Moraxellaceae, and Acinetobacter than mothers of healthy children. There was a clear correlation between gut microbiome profiles of children and their mothers; however, children with ASD still had unique bacterial biomarkers, such as Alcaligenaceae, Enterobacteriaceae, and Clostridium. Candidate biomarkers discovered in this study had remarkable discriminatory power. The identified patterns of mother–child gut microbiome profiles may be important for assessing risks during the early stage and planning of personalized treatment and prevention of ASD via microbiota modulation.
孤独症谱系障碍(Autism Spectrum Disorder，ASD)简称孤独症，与自闭症同义，是一组以社交沟通障碍、兴趣或活动范围狭窄以及重复刻板行为为主要特征的神经发育性障碍疾病。自闭症的病因尚不清楚，遗传学研究表明，自闭症的发生发展受遗传因素的影响较大，但其患病风险效应具有高度的可变性，仅靠遗传因素并不能解释其发病原因，因此环境因素不容忽视，一般认为遗传、表观遗传和环境因素相互作用，共同在自闭症的发生发展中发挥作用。动物实验研究表明母代的肠道菌群紊乱会导致子代神经发育障碍的发生。母亲肠道菌群的紊乱可能会增加后代患有自闭症的风险。然而，目前尚无研究对自闭症患儿的母子肠道微生物组进行同时分析并评价其相关性。该研究分析比较了59对自闭症儿童及其母亲与30对健康对照母子的肠道菌群的群落结构。研究结果显示中国自闭症儿童与健康儿童的肠道微生物组成存在显著差异，并找出了潜在的标志菌：如产碱杆菌科（Alcaligenaceae）和不动杆菌属（Acinetobacter）。自闭症儿童的母亲与健康儿童的母亲相比，肠道中变形菌门（Proteobacteria），α变形菌纲（Alphaproteobacteria），莫拉菌科（Moraxellaceae）和不动杆菌属（Acinetobacter）相对丰度显著升高。虽然儿童与其母亲的肠道微生物群谱之间存在明显的相关性，自闭症儿童肠道内仍有其独特的细菌标志物，如产碱杆菌科（Alcaligenaceae），肠杆菌科（Enterobacteriaceae），梭菌属（Clostridium）等。该研究所发现的肠道细菌标志物可以显著地区分自闭症儿童与健康儿童。母子肠道菌群图谱和标志菌的研究将对自闭症早期风险评估、预防以及通过调节菌群制定个性化的治疗方案提供新的思路。该研究主要得出以下结论：1.中国自闭症儿童的肠道菌群与健康儿童相比有显著差异，且存在潜在的与致病相关的肠道菌；2.自病症儿童的母亲与健康儿童的母亲的肠道菌群结构也存在显著的差异；3.虽然儿童与其母亲的肠道菌群之间存在明显的相关性，自闭症儿童肠道内仍有其独特的细菌标志物；4.所发现的细菌标志物具有潜在的自闭症风险评估的价值。





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