Abstract: Autism spectrum disorder（ASD）is a group of highly heterogeneous neurodevelopmental disorders. The pathogenesis of ASD has not yet been clarified，but studies have confirmed that genetic mutation are major etiology of ASD and ASD-like symptoms. The continuous development of genetic testing technology has laid a good foundation for further clarifying the genetic material changes that can cause ASD and ASD-like symptoms. This article describes related issues and suggestions.

Key words: autism spectrum disorder, genetics, diagnosis, suggestion

摘要： 孤独症谱系障碍（autism spectrum disorder，ASD）是一组高异质性的神经发育障碍性疾病，目前有关ASD的发病机制尚未阐明，但研究证实遗传物质即基因突变是ASD和ASD样症状的重要病因。遗传检测技术的不断发展，为认识ASD和ASD样症状的遗传背景奠定了良好的基础，该文就相关问题及建议进行叙述。

关键词: 孤独症谱系障碍, 遗传学, 诊断, 建议