Autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDs) are behaviorally defined disorders with overlapping clinical features that are often associated with higher‐order cognitive dysfunction, particularly executive dysfunction. Our aim was to determine if the polygenic score (PGS) for ASD is associated with parent‐reported executive dysfunction in everyday life using the Behavior Rating Inventory of Executive Function (BRIEF). Furthermore, we investigated if PGS for general intelligence (INT) and attention deficit/hyperactivity disorder (ADHD) also correlate with BRIEF. We included 176 children, adolescents and young adults aged 5–22 years with full‐scale intelligence quotient (IQ) above 70. All were admitted for clinical assessment of ASD symptoms and 68% obtained an ASD diagnosis. We found a significant difference between low and high ASD PGS groups in the BRIEF behavior regulation index (BRI) (P = 0.015, Cohen's d = 0.69). A linear regression model accounting for age, sex, full‐scale IQ, Social Responsiveness Scale (SRS) total score, ASD, ADHD and INT PGS groups as well as genetic principal components, significantly predicted the BRI score; F(11,130) = 8.142, P < 0.001, R² = 0.41 (unadjusted). Only SRS total (P < 0.001), ASD PGS 0.1 group (P = 0.018), and sex (P = 0.022) made a significant contribution to the model. This suggests that the common ASD risk gene variants have a stronger association to behavioral regulation aspects of executive dysfunction than ADHD risk or INT variants in a clinical sample with ASD symptoms. Autism Res 2020, 13: 207–220. © 2019 International Society for Autism Research, Wiley Periodicals, Inc.

中文翻译：

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自闭症谱系障碍多基因评分与入院接受临床评估的儿童的日常执行功能相关。


自闭症谱系障碍 (ASD) 和其他神经发育障碍 (ND) 是行为上定义的疾病，具有重叠的临床特征，通常与高阶认知功能障碍，特别是执行功能障碍相关。我们的目的是使用执行功能行为评定量表 (BRIEF) 确定 ASD 的多基因评分 (PGS) 是否与父母报告的日常生活中的执行功能障碍相关。此外，我们还研究了一般智力 (INT) 和注意力缺陷/多动障碍 (ADHD) 的 PGS 是否也与 Brief 相关。我们纳入了 176 名 5-22 岁的儿童、青少年和年轻人，他们的智商 (IQ) 在 70 以上。所有患者均入院接受 ASD 症状的临床评估，其中 68% 获得了 ASD 诊断。我们发现低 ASD PGS 组和高 ASD PGS 组之间的 Brief 行为调节指数 (BRI) 存在显着差异（ P = 0.015，Cohen's d = 0.69）。线性回归模型考虑了年龄、性别、全量表智商、社会反应量表（SRS）总分、ASD、ADHD和INT PGS组以及遗传主成分，显着预测了BRI评分； F(11,130) = 8.142， P < 0.001， R ² = 0.41（未调整）。只有 SRS 总计 ( P < 0.001)、ASD PGS 0.1 组 ( P = 0.018) 和性别 ( P = 0.022) 对模型做出了显着贡献。这表明，在具有 ASD 症状的临床样本中，常见的 ASD 风险基因变异与执行功能障碍的行为调节方面的关联性比 ADHD 风险或 INT 变异更强。自闭症研究2020，13：207–220 。 © 2019 国际自闭症研究协会，Wiley periodicals, Inc.