Zhuang Hongbin, Liang Zhiyuan, Ma Guanwei, Qureshi Ayesha, Ran Xiaoqian, Feng Chengyun, Liu Xukun, Yan Xi, Shen Liming
College of Life Science and Oceanography Shenzhen University Shenzhen P. R. China.
Maternal and Child Health Hospital of Baoan Shenzhen P. R. China.
MedComm (2020). 2024 Mar 2;5(3):e497. doi: 10.1002/mco2.497. eCollection 2024 Mar.
Autism spectrum disorder (ASD) has become a common neurodevelopmental disorder. The heterogeneity of ASD poses great challenges for its research and clinical translation. On the basis of reviewing the heterogeneity of ASD, this review systematically summarized the current status and progress of pathogenesis, diagnostic markers, and interventions for ASD. We provided an overview of the ASD molecular mechanisms identified by multi-omics studies and convergent mechanism in different genetic backgrounds. The comorbidities, mechanisms associated with important physiological and metabolic abnormalities (i.e., inflammation, immunity, oxidative stress, and mitochondrial dysfunction), and gut microbial disorder in ASD were reviewed. The non-targeted omics and targeting studies of diagnostic markers for ASD were also reviewed. Moreover, we summarized the progress and methods of behavioral and educational interventions, intervention methods related to technological devices, and research on medical interventions and potential drug targets. This review highlighted the application of high-throughput omics methods in ASD research and emphasized the importance of seeking homogeneity from heterogeneity and exploring the convergence of disease mechanisms, biomarkers, and intervention approaches, and proposes that taking into account individuality and commonality may be the key to achieve accurate diagnosis and treatment of ASD.
自闭症谱系障碍(ASD)已成为一种常见的神经发育障碍。ASD的异质性对其研究和临床转化构成了巨大挑战。在回顾ASD异质性的基础上,本综述系统总结了ASD发病机制、诊断标志物和干预措施的现状与进展。我们概述了通过多组学研究确定的ASD分子机制以及不同遗传背景下的趋同机制。综述了ASD中的共病、与重要生理和代谢异常(即炎症、免疫、氧化应激和线粒体功能障碍)相关的机制以及肠道微生物紊乱。还综述了ASD诊断标志物的非靶向组学和靶向研究。此外,我们总结了行为和教育干预的进展与方法、与技术设备相关的干预方法以及医学干预和潜在药物靶点的研究。本综述强调了高通量组学方法在ASD研究中的应用,并强调了从异质性中寻求同质性以及探索疾病机制、生物标志物和干预方法趋同的重要性,并提出兼顾个体性和共性可能是实现ASD准确诊断和治疗的关键。