Autism spectrum disorder (ASD) is a neurological and developmental disorder characterized by social impairment and restricted interactive and communicative behaviors. It may occur as an isolated disorder or in the context of other neurological, psychiatric, developmental, and genetic disorders. Due to rapid developments in genomics and imaging technologies, imaging genetics studies of ASD have evolved in the last few years. Increased risk for ASD diagnosis is found to be related to many specific single-nucleotide polymorphisms, and the study of genetic mechanisms and noninvasive imaging has opened various approaches that can help diagnose ASD at the nascent level. Identifying risk genes related to structural and functional changes in the brain of ASD patients provide a better understanding of the disease’s neuropsychiatry and can help identify targets for therapeutic intervention that could be useful for the clinical management of ASD patients.

自闭症谱系障碍（ASD）是一种神经系统和发育障碍，其特征是社交障碍以及受限的互动和交流行为。它可能是孤立的疾病，也可能是在其他神经，精神，发育和遗传疾病的背景下发生的。由于基因组学和成像技术的快速发展，近几年来ASD的成像遗传学研究得到了发展。发现ASD诊断的风险增加与许多特定的单核苷酸多态性有关，对遗传机制和非侵入性成像的研究开辟了各种方法，可在新生阶段帮助诊断ASD。