健康与遗传心理学研究室知识库

自闭症是一种发育障碍类疾病,病程可持续一生,难以逆转,且患病率逐年升高,已给家庭和社会造成巨大的经济和社会负担.然而,自闭症的病因尚未完全明晰,缺少有效的治疗和干预方法.自闭症是生物性疾病,受基因和环境因素共同影响,环境可能是主要影响因素.自闭症儿童大脑早期发育异常可能是自闭症发病的直接诱因,神经毒性物质、营养物质、代谢产物和神经活性物质等都可能是自闭症的病因.一些自闭症患者存在染色体异常和基因变异,同时,更多的病例在胃肠道症状等其他方面也表现异常.自闭症患者中较高比例的胃肠道异常症状与患者肠道微生物紊乱关系密切,因此推论,微生物、肠道与大脑构成的菌-肠-脑轴可能在自闭症的发病过程中起重要作用.针对不同的影响因素,目前,已有多种干预方法,包括生物和非生物疗法.生物疗法包括:抗生素、药物和饮食等,其中,以肠道微生物为靶点的检测与干预的自闭症疗法将是未来的趋势,用益生菌和粪菌移植进行干预也日趋引起关注.虽然,这些疗法都有患者在使用,但多数疗法并不能有效改善自闭症核心症状,仍缺乏完整有效的安全性和有效性评估,因此,今后应加强系统性的控制研究,开展针对菌-肠-脑轴的病因探索和微生物干预研究.

Autism is a developmental disease, which may have a lifelong course, and the process is difficult to reverse. The cause of autism remains unclear and effective intervention and treatment have not been discovered. With increasing prevalence, autism causes huge economic burdens to the patients’ families and social burdens to the society. Autism is a biological disease that is influenced by both genetic and environmental factors. Early brain dysplasia may be the direct cause for autism, and neurotoxic substances, nutrients, metabolites and neuroactive substances are the most suspicious causes. While chromosomal abnormalities and genetic variation are found in some cases of autism, more cases showed abnormalities in gastrointestinal symptoms, a higher proportion of which may be associated with the human gut microbiota. The microorganism, the intestines and the brain form the gut-brain axis, which plays an important role in autism. Accordingly, many interventions have been developed including both biological and non-biological therapies. The biological therapies involve antibiotics, medicine and diet. Among these, a therapy targeting to intestinal microbes, such as interventions via probiotics and fecal transplantation, is booming. Although some of these treatments seemed relatively effective, most of them showed limitation in alleviating core symptoms of autism. Besides, there is not enough complete evaluation for safety and effectiveness. Therefore, future research needs to be performed in systematic and case-control studies for exploring the etiology of autism.

中国博士后科学基金(批准号: 2013M541072)和日本NS BIO JAPAN 株式会社和广东新日生物科技有限公司资助项目