孤独症谱系障碍的多模态神经影像学研究进展

Advances in multimodality neuroimaging studies of autism spectrum disorders

孤独症谱系障碍（ASD）是一种可能由遗传及环境因素共同作用所导致的复杂性精神障碍，其临床诊断主要基于行为表现且预后不佳。ASD的病因、病理、表型在不同患者之间存在很大异质性，增加了临床诊疗的难度，需要发展有效的工具筛选同质性个体以便制定优化治疗方案。现综述现有多模态神经影像学技术与基因技术等在ASD研究中的应用与进展。现有研究进展表明将多模态神经影像学技术与基因技术有机结合有望揭示ASD的病理机制、发现有助于ASD诊断的客观生物学指标，是实现早期、准确诊断ASD的重要途径之一。

Autism spectrum disorders （ASD） is a complex, behaviorally defined, mental disorder with uncertain causes although it is more likely caused by the interaction of genetic and environmental factors. ASD＇s heterogeneity in pathology and phenotype makes it difficult to accurately diagnose individual patients. Therefore, it is an urgent need to develop effective tools for screening susceptible individuals for early diagnosis and treatment. This paper reviews recent neuroimaging and imaging genetic studies of ASD. The existing results indicate that proper combination of multimodal neuroimaging techniques and genetic technology is expected to reveal the pathological mechanism of ASD and might help find objective biomarkers for achieving an early and accurate diagnosis of ASD.