This study aimed to systematically assess the impact of clinical and demographic variables on the diagnostic yield of Whole Exome Sequencing (WES) when applied to children with Autism Spectrum Disorder (ASD) from a consanguineous population. Ninety-seven children were included in the analysis, 63% were male and 37% were females. 77.3% had a suspected syndromic aetiology of which 68% had co-existent central nervous system (CNS) clinical features, while 69% had other systems involved. The diagnostic yield of WES in our cohort with ASD was 34%. Children with seizures were more likely to have positive WES results (46% vs. 31%, p = 0.042). Probands with suspected syndromic ASD aetiology showed no significant differential impact on the diagnostic yield of WES.

本研究旨在系统评估临床和人口统计学变量对全外显子组测序 (WES) 诊断率的影响，该方法适用于近亲婚配的自闭症谱系障碍 (ASD) 儿童。97 名儿童被纳入分析，其中 63% 为男性，37% 为女性。77.3% 有疑似综合征病因，其中 68% 有共存的中枢神经系统 (CNS) 临床特征，而 69% 有其他系统受累。在我们患有 ASD 的队列中，WES 的诊断率为 34%。癫痫发作的儿童更有可能获得阳性 WES 结果（46% 对 31%，p  = 0.042）。疑似综合征性 ASD 病因的先证者对 WES 的诊断率没有显着差异影响。