Abstract：
Examining sub-threshold autistic traits in non-autistic first-degree relatives of individuals on the autism spectrum, known as the Broad Autism Phenotype (BAP), could provide new insights into the associations and familial aggregation of autistic traits. This study was a retrospective cross-sectional study of parents (n = 1008), probands with autism (n = 613), and unaffected siblings (n = 221) of probands with autism. BAP traits were examined by the BAP Questionnaire and Communication Checklist-Adult in parents, Autism Developmental Observation Scale-Second edition in probands, and Social Responsiveness Scale in siblings. Multivariable linear regression analyses were used to investigate the associations of parental BAP traits on autistic traits in probands and unaffected sibling BAP traits. Fathers showed significantly increased aloofness, pragmatic language difficulties, and social engagement problems compared to mothers. Female siblings showed increased difficulties with social cognition compared to male siblings. Adjusted models of the regression analyses showed that all BAP traits in fathers were significantly associated with BAP trait expression in probands with autism. Additionally, all of mother\'s BAP traits were significantly associated with unaffected siblings\' BAP trait expression while only fathers\' aloofness and rigidity traits were inversely associated with siblings\' BAP trait expression. Finally, there were significant inverse interactions noted between parent\'s BAP traits and their children\'s BAP trait expression. This study demonstrated differences in how males and females express BAP traits and also identified differences in parent-child associations by sex, with fathers having a greater effect on their proband children\'s expression of BAP traits than mothers.
摘要：
检查自闭症谱系个体的非自闭症一级亲属的亚阈值自闭症特征，被称为广泛自闭症表型（BAP），可以为自闭症特征的关联和家族聚集提供新的见解。这项研究是一项对父母的回顾性横断面研究(n=1008)，自闭症先证者（n=613），和自闭症先证者未受影响的兄弟姐妹（n=221）。通过父母的BAP问卷和成人沟通清单检查了BAP特征，自闭症发展观察量表-先证者第二版，和兄弟姐妹的社会反应量表。多变量线性回归分析用于研究先证者和未受影响的同胞BAP性状中父母BAP性状与自闭症性状的关联。父亲表现出明显的超然，语用语言困难，与母亲相比，社会参与问题。与男性兄弟姐妹相比，女性兄弟姐妹在社会认知方面表现出更多的困难。回归分析的调整模型显示，父亲的所有BAP性状与自闭症先证者的BAP性状表达显着相关。此外,所有母亲的BAP性状与未受影响的兄弟姐妹的BAP性状表达显着相关，而只有父亲的冷漠和僵化性状与兄弟姐妹的BAP性状表达呈负相关。最后,父母的BAP性状与其子女的BAP性状表达之间存在显著的反向相互作用。这项研究证明了男性和女性表达BAP特征的差异，并且还确定了性别在亲子关联方面的差异，父亲对先证者子女表达BAP特征的影响比母亲更大。
