中文摘要：

孤独症谱系障碍（autism spectrum disorder,ASD）是一种神经精神障碍,主要表现为社会交往障碍、交流障碍以及局限性的兴趣和重复刻板的行为模式三个主要核心症状.本文介绍了ASD的遗传基础和神经机制的最新研究进展.ASD具有较高的遗传率,且ASD个体的5-羟色胺和睾丸激素都较高.神经影像学研究发现,ASD个体的杏仁核、扣带回、梭状回、镜像神经元和前额叶等大脑区域在结构和功能上都与正常发育个体存在差异,但在个别区域激活模式的差异方向上仍存在不一致的地方.此外,功能连接的研究结果也证实了ASD个体连接不良的假设.未来的研究应该更多地着眼于如何利用这些基础研究成果为临床上提出有效的治疗和训练方式.

英文摘要：

Autism spectrum disorder （ASD） is a defective mental disease and its core impairments are social function defect, communication defect, restrictive and stereotyped behavior pattern. The paper introduces the genetic basis and neural mechanism of ASD. ASD has high genetic rate, and 5-HT and testosterone of ASD individual are both higher. Neuroimaging studies find that there are some differences between ASD and normal individuals in the structure and function of amygdala, cingulate gyrus, the fusiform gyrus, mirror neurons, prefrontal lobe and other brain areas, but it is inconsistent in the discrepancy direction of some areas＇ activation patterns. In addition, the results of functional connectivity studies also confirm the hypothesis that the ASD individuals are under-connection. Future research should focus more on how to use the basic research outcomes to put forward effective treatment and training for clinical research.