自闭症
自闭症谱系障碍
神经发育障碍
表型
自闭症遗传率
脆性X综合征
发育障碍
遗传学
基因
转化研究
心理学
神经科学
生物
发展心理学
生物技术
标识
DOI:10.31887/dcns.2012.14.3/jcrawley
摘要
Autism is a neurodevelopmental disorder whose diagnosis is based on three behavioral criteria: unusual reciprocal social interactions, deficits in communication, and stereotyped repetitive behaviors with restricted interests. A large number of de novo single gene mutations and chromosomal deletions are associated with autism spectrum disorders. Based on the strong genetic evidence, mice with targeted mutations in homologous genes have been generated as translational research tools. Mouse models of autism have revealed behavioral and biological outcomes of mutations in risk genes. The field is now poised to employ the most robust phenotypes in the most replicable mouse models for preclinical screening of novel therapeutics.
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