自闭症谱系障碍在全同胞和半同胞中的复发情况及随时间的变化趋势：一项基于人群的队列研究。
Recurrence of autism spectrum disorders in full- and half-siblings and trends over time: a population-based cohort study.
机构信息
Section of Biostatistics, Department of Public Health, Aarhus University, Aarhus, Denmark.
出版信息
JAMA Pediatr. 2013 Oct;167(10):947-53. doi: 10.1001/jamapediatrics.2013.2259.
IMPORTANCE
To date, this is the first population-based study to examine the recurrence risk for autism spectrum disorders (ASDs), including time trends, and the first study to consider the ASDs recurrence risk for full- and half-siblings.
OBJECTIVES
To estimate the relative recurrence risk for ASDs in a Danish population, including recurrence in full- and half-siblings, and to examine time trends in ASDs relative to the recurrence risk.
DESIGN, SETTING, AND PARTICIPANTS: Population-based cohort study in Denmark. All children (about 1.5 million) born in Denmark between January 1, 1980, and December 31, 2004, were identified and followed up to December 31, 2010. We identified a maternal sibling subcohort derived from mothers with at least 2 children and a paternal sibling subcohort derived from fathers with at least 2 children.
EXPOSURES
Children having an older sibling with ASDs are compared with children not having an older sibling with ASDs.
MAIN OUTCOMES AND MEASURES
The adjusted hazard ratio for ASDs among children having an older sibling with ASDs compared with children not having an older sibling with ASDs. RESULTS The overall relative recurrence risk for ASDs was 6.9 (95% CI, 6.1-7.8), and it did not change significantly over time; similar risks were observed in maternal and paternal full-siblings. The relative recurrence risks were 2.4 (95% CI, 1.4-4.1) for maternal half-siblings and 1.5 (95% CI, 0.7-3.4) for paternal half-siblings.
CONCLUSIONS AND RELEVANCE
Our population-based recurrence risk estimate is lower than the recently reported estimates from clinical samples. Our results demonstrate no time trend in the ASDs recurrence risk as seen in the ASDs prevalence. The difference in the recurrence risk between full- and half-siblings supports the role of genetics in ASDs, while the significant recurrence risk in maternal half-siblings may support the role of factors associated with pregnancy and the maternal intrauterine environment in ASDs.
重要性
迄今为止，这是第一项基于人群的研究，旨在检查自闭症谱系障碍（ASD）的复发风险，包括时间趋势，也是第一项考虑 ASD 全同胞和半同胞复发风险的研究。
目的
估计丹麦人群中 ASD 的相对复发风险，包括全同胞和半同胞的复发风险，并检查 ASD 的时间趋势与复发风险的关系。
设计、设置和参与者：丹麦的一项基于人群的队列研究。所有（约 150 万）1980 年 1 月 1 日至 2004 年 12 月 31 日期间在丹麦出生的儿童均被确定，并随访至 2010 年 12 月 31 日。我们从至少有 2 个孩子的母亲中确定了一个母系同胞亚组，从至少有 2 个孩子的父亲中确定了一个父系同胞亚组。
暴露
与没有 ASDs 同胞的儿童相比，有 ASDs 同胞的儿童的 ASD 发生情况。
主要结局和测量指标
有 ASDs 同胞的儿童与没有 ASDs 同胞的儿童相比，ASD 的调整后风险比。
结果
ASD 的总体相对复发风险为 6.9（95%CI，6.1-7.8），且随时间无显著变化；在母系和父系全同胞中观察到相似的风险。母系半同胞的相对复发风险为 2.4（95%CI，1.4-4.1），父系半同胞的相对复发风险为 1.5（95%CI，0.7-3.4）。
结论和相关性
我们基于人群的复发风险估计值低于最近来自临床样本的报告估计值。我们的结果表明，ASD 的复发风险没有像 ASD 的流行率那样出现时间趋势。全同胞和半同胞之间复发风险的差异支持遗传学在 ASD 中的作用，而母系半同胞中显著的复发风险可能支持与妊娠和母体宫内环境相关的因素在 ASD 中的作用。
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