Department of Psychiatry and Behavioral Sciences, MIND Institute, University of California Davis Health, Sacramento California.
Department of Psychology, Carolina Autism and Neurodevelopment Research Center, University of South Carolina, Columbia, South Carolina.
Pediatrics. 2024 Aug 1;154(2). doi: 10.1542/peds.2023-065297.
Autism spectrum disorder (ASD) is estimated to be ∼10 times higher in children with versus without an autistic sibling in population-based studies. Prospective studies of infant siblings have revealed even higher familial recurrence rates. In the current prospective longitudinal study, we provide updated estimates of familial ASD recurrence using a multinational database of infants with older autistic siblings.
Data were collated across 18 sites of the Baby Siblings Research Consortium, an international network studying the earliest manifestations of ASD. A total of 1605 infants with an older autistic sibling were followed from early in life to 3 years, when they were classified as ASD or non-ASD. Hierarchical generalized linear modeling, with site as a random effect, was used to examine predictors of recurrence in families and calculate likelihood ratios.
A total of 20.2% of siblings developed ASD, which is not significantly higher than the previously reported rate of 18.7%. Male infant sex and >1 older affected sibling were significant predictors of familial recurrence. Proband sex also influenced recurrence rates, with siblings of female probands significantly more likely to develop ASD than siblings of male probands. Race and maternal education were also associated with recurrence in families.
The familial recurrence rate of ASD, as measured in infant sibling studies, has not changed appreciably since previous estimates were made in 2011. Younger siblings of autistic children, particularly those who are male, have an affected female sibling, multiple affected siblings, or are impacted by social inequities, should be closely monitored and promptly referred for diagnostic evaluation.
在基于人群的研究中,自闭症谱系障碍(ASD)在有与无自闭症同胞的儿童中的估计发病率相差 10 倍。对婴儿同胞的前瞻性研究揭示了更高的家族内复发率。在当前的前瞻性纵向研究中,我们使用患有自闭症年长同胞的多国婴儿数据库提供了 ASD 家族内复发的最新估计。
数据来自于婴儿同胞研究协会(Baby Siblings Research Consortium)的 18 个研究点,该协会是一个国际性网络,研究 ASD 的最早表现。共有 1605 名患有自闭症年长同胞的婴儿从生命早期开始被跟踪到 3 岁,届时他们被分类为 ASD 或非 ASD。采用具有站点为随机效应的层次广义线性模型来检查家族内复发的预测因素,并计算似然比。
共有 20.2%的同胞发展为 ASD,这与之前报道的 18.7%的比率没有显著差异。男性婴儿性别和>1 个患病年长同胞是家族内复发的显著预测因素。先证者性别也影响复发率,女性先证者的同胞比男性先证者的同胞更有可能发展为 ASD。种族和母亲教育也与家族内的复发有关。
自 2011 年之前进行的估计以来,ASD 在婴儿同胞研究中的家族内复发率没有明显变化。自闭症儿童的年幼同胞,特别是男性,有患病的女性同胞、多个患病的同胞,或受到社会不平等的影响,应密切监测,并及时转介进行诊断评估。