Department of Pediatrics, Vanderbilt University, Nashville, Tennessee, USA.
Autism Res. 2012 Feb;5(1):31-8. doi: 10.1002/aur.230. Epub 2011 Oct 3.
Autism spectrum disorder (ASD) is considered among the most heritable of all neurodevelopmental and psychiatric disorders, but identification of etiologically significant genetic markers and risk variants has been hampered by a lack of sufficiently large samples. Rapid phenotyping procedures, where self-report measures are used instead of extensive clinical assessment, have been proposed as methods for amassing large genetic databases due to their hypothesized time-efficiency and affordability. We assessed the diagnostic accuracy of potential rapid phenotyping procedures using the Social Communication Questionnaire and the Social Responsiveness Scale in a sample of 333 children who also received extensive phenotypic assessments. While the rapid phenotyping measures were able to accurately identify a large number of children with ASD, they also frequently failed to differentiate children with ASD from children with other complex neurobehavioral profiles. These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large-scale genetic collections of children with ASD.
自闭症谱系障碍(ASD)被认为是所有神经发育和精神疾病中最具遗传性的疾病之一,但由于缺乏足够大的样本,确定具有病因意义的遗传标记和风险变异一直受到阻碍。快速表型分析程序,其中使用自我报告的测量方法而不是广泛的临床评估,由于其假设的时间效率和经济适用性,被提议作为积累大型遗传数据库的方法。我们使用社交沟通问卷和社交反应量表在 333 名儿童中评估了潜在快速表型分析程序的诊断准确性,这些儿童还接受了广泛的表型评估。虽然快速表型测量能够准确识别出大量患有 ASD 的儿童,但它们也经常无法将 ASD 儿童与具有其他复杂神经行为特征的儿童区分开来。这些数据支持在快速表型分析程序的基础上,继续需要专家临床验证,以准确地积累 ASD 儿童的大规模遗传数据。