PDF(Pubmed)
Abstract：
Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder characterized by impaired social interaction and communication, and repetitive patterns of behavior. Family studies show that ASD is highly heritable, and hundreds of genes have previously been implicated in the disorder; however, the etiology is still not fully clear. Brain imaging and electroencephalography (EEG) are key techniques that study alterations in brain structure and function. Combined with genetic analysis, these techniques have the potential to help in the clarification of the neurobiological mechanisms contributing to ASD and help in defining novel therapeutic targets. To further understand what is known today regarding the impact of genetic variants in the brain alterations observed in individuals with ASD, a systematic review was carried out using Pubmed and EBSCO databases and following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. This review shows that specific genetic variants and altered patterns of gene expression in individuals with ASD may have an effect on brain circuits associated with face processing and social cognition, and contribute to excitation-inhibition imbalances and to anomalies in brain volumes.
摘要：
自闭症谱系障碍（ASD）是一种早期发作的神经发育障碍，其特征是社交互动和交流受损。和重复的行为模式。家庭研究表明ASD具有高度遗传性,和数以百计的基因以前被牵涉到疾病;然而，病因尚不完全清楚。脑成像和脑电图（EEG）是研究大脑结构和功能变化的关键技术。结合基因分析,这些技术有可能有助于阐明导致ASD的神经生物学机制,并有助于确定新的治疗靶点.为了进一步了解目前已知的关于遗传变异在ASD患者中观察到的大脑改变中的影响，使用Pubmed和EBSCO数据库并遵循系统评价和荟萃分析(PRISMA)指南的首选报告项目进行系统评价。这篇综述表明，ASD患者的特定遗传变异和基因表达模式的改变可能会对与面部处理和社会认知相关的大脑回路产生影响。并导致兴奋-抑制失衡和脑容量异常。
