The state of research on the genetics of autism spectrum disorder: methodological, clinical and conceptual progress
作者: Anne B ArnettSandy TrinhRaphael A Bernier
作者单位: 1University of Washington, Department of Psychiatry & Behavioral Sciences, Center on Human Development and Disability, Box 357920, Seattle, WA 98195, USA
刊名: Current Opinion in Psychology, 2019, Vol.27 , pp.1-5
来源数据库: Elsevier Journal
DOI: 10.1016/j.copsyc.2018.07.004
原始语种摘要: Autism spectrum disorder (ASD) is a behaviorally heterogeneous disorder with a strong genetic component, as evidenced by decades of twin and family studies. In recent years, enhanced methods of genomic sequencing have revealed that structural variation and mutations to both coding and non-coding regions of single, candidate genes may account for more than 30% of ASD cases. The current review highlights a genotype-first approach that builds upon these molecular findings to parse the heterogeneity of ASD. Advantages of this approach include strong potential for precision medicine diagnosis and treatment, as well as opportunity to advance basic science research on neurodevelopmental disorders. Psychosocial benefits of identifying genetic subtypes of ASD have already been realized through...
全文获取路径: Elsevier  (合作)

  • disorder 无序
  • methodological 方法论的
  • genetics 遗传学
  • autism 孤独症
  • comprehensive 全面
  • medicine 
  • clinical 临床的
  • heterogeneity 不均匀性
  • spectrum 光谱
  • coding 编码