Department of Life, Health and Chemical Sciences, The Open University, Milton Keynes MK7 6AA, UK.
Neuropsychol Rev. 2011 Dec;21(4):360-89. doi: 10.1007/s11065-011-9183-9. Epub 2011 Oct 12.
Diagnosis, intervention and support for people with autism can be assisted by research into the aetiology of the condition. Twin and family studies indicate that autism spectrum conditions are highly heritable; genetic relatives of people with autism often show milder expression of traits characteristic for autism, referred to as the Broader Autism Phenotype (BAP). In the past decade, advances in the biological and behavioural sciences have facilitated a more thorough examination of the BAP from multiple levels of analysis. Here, the candidate phenotypic traits delineating the BAP are summarised, including key findings from neuroimaging studies examining the neural substrates of the BAP. We conclude by reviewing the value of further research into the BAP, with an emphasis on deriving heritable endophenotypes which will reliably index autism susceptibility and offer neurodevelopmental mechanisms that bridge the gap between genes and a clinical autism diagnosis.
自闭症患者的诊断、干预和支持可以通过对自闭症病因的研究来辅助。双胞胎和家庭研究表明，自闭症谱系障碍具有高度遗传性；自闭症患者的遗传亲属通常表现出自闭症特征的轻度表达，称为广泛自闭症表型（BAP）。在过去的十年中，生物和行为科学的进步促进了从多个分析水平对 BAP 的更全面检查。在这里，总结了界定 BAP 的候选表型特征，包括神经影像学研究中检查 BAP 神经基础的关键发现。我们最后回顾了进一步研究 BAP 的价值，重点是得出可遗传的内表型，这些内表型将可靠地指示自闭症易感性，并提供神经发育机制，弥合基因和临床自闭症诊断之间的差距。
