Khachadourian Vahe, Arildskov Elias Speleman, Grove Jakob, O'Reilly Paul F, Buxbaum Joseph D, Reichenberg Abraham, Sandin Sven, Croen Lisa A, Schendel Diana, Hansen Stefan Nygaard, Janecka Magdalena
Department of Child and Adolescent Psychiatry, NYU Grossman School of Medicine, New York, NY, USA.
Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Nat Med. 2025 Mar;31(3):996-1007. doi: 10.1038/s41591-024-03479-5. Epub 2025 Jan 31.
Evidence suggests that maternal health in pregnancy is associated with autism in the offspring. However, most diagnoses in pregnant women have not been examined, and the role of familial confounding remains unknown. Our cohort included all children born in Denmark between 1998 and 2015 (n = 1,131,899) and their parents. We fitted Cox proportional hazard regression models to estimate the likelihood of autism associated with each maternal prenatal ICD-10 diagnosis, accounting for disease chronicity and comorbidity, familial correlations and sociodemographic factors. We examined the evidence for familial confounding using discordant sibling and paternal negative control designs. Among the 1,131,899 individuals in our sample, 18,374 (1.6%) were diagnosed with autism by the end of follow-up. Across 236 maternal diagnoses we tested (prevalence ≥0.1%), 30 were significantly associated with autism after accounting for sociodemographic factors, disorder chronicity and comorbidity, and correction for multiple testing. This included obstetric, cardiometabolic and psychiatric disorders (for example, diabetes in pregnancy (hazard ratio (HR) 1.19, 95% confidence interval (CI) 1.08-1.31) and depression (HR 1.49, 95% CI 1.27-1.75)), previously shown to be associated with autism. Family-based analyses provided strong evidence for familial confounding in most of the observed associations. Our findings indicate pervasive associations between maternal health in pregnancy and offspring autism and underscore that these associations are largely attributable to familial confounding.
有证据表明,孕期的母亲健康状况与后代患自闭症有关。然而,大多数孕妇的诊断情况尚未得到研究,家族混杂因素的作用仍然未知。我们的队列研究纳入了1998年至2015年在丹麦出生的所有儿童(n = 1,131,899)及其父母。我们拟合了Cox比例风险回归模型,以估计与每位母亲产前ICD - 10诊断相关的自闭症发生可能性,同时考虑了疾病的慢性病程和合并症、家族相关性以及社会人口学因素。我们使用不一致的兄弟姐妹和父亲阴性对照设计来研究家族混杂因素的证据。在我们样本中的1,131,899个人中,有18,374人(1.6%)在随访结束时被诊断患有自闭症。在我们测试的236种母亲诊断中(患病率≥0.1%),在考虑了社会人口学因素、疾病慢性病程和合并症以及多重检验校正后,有30种与自闭症显著相关。这包括产科、心脏代谢和精神疾病(例如,孕期糖尿病(风险比(HR)1.19,95%置信区间(CI)1.08 - 1.31)和抑郁症(HR 1.49,95% CI 1.27 - 1.75)),这些疾病先前已被证明与自闭症有关。基于家庭的分析为大多数观察到的关联中的家族混杂因素提供了有力证据。我们的研究结果表明,孕期母亲健康状况与后代自闭症之间存在广泛关联,并强调这些关联在很大程度上归因于家族混杂因素。