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New York Research Highlights Genetic Autism Risk Factors

New York Research Highlights Genetic Autism Risk Factors

A recent study published online on Jan. 31 in Nature Medicine suggests that any observed associations between maternal health in pregnancy and offspring autism are largely due to familial confounding rather than direct causation. The findings add to the growing body of research exploring the complex interplay between maternal conditions, genetics, and environmental factors in autism risk.

The study was conducted by Vahe Khachadourian, M.D., Ph.D., M.P.H., and colleagues from the New York University Grossman School of Medicine in New York City. The researchers aimed to assess the likelihood of autism in children born to mothers with various prenatal diagnoses, while carefully accounting for factors such as disease chronicity, comorbidity, familial correlations, and sociodemographic influences. By examining these variables, the study sought to clarify whether maternal conditions play a direct role in autism risk or if familial factors, such as shared genetics or environmental exposures, contribute more significantly to the observed associations.

The analysis included an extensive sample of 1,131,899 individuals, providing a comprehensive dataset for evaluating potential links between maternal diagnoses and autism risk. By the end of the follow-up period, 1.6 percent of the individuals in the sample had received an autism diagnosis. Initial findings indicated that, after adjusting for sociodemographic variables and correcting for multiple testing, 30 of the 236 maternal diagnoses tested were significantly associated with autism. These included a range of conditions, such as obstetric complications, cardiometabolic disorders, and psychiatric conditions. However, upon conducting family-based analyses that accounted for genetic influences and environmental factors—such as exposure to pollution—the researchers found strong evidence that familial confounding explained the majority of these associations.

Interestingly, the only maternal diagnosis that maintained a strong association with autism even after adjusting for confounding variables was pregnancy complications specifically related to the fetus. This finding suggests that certain fetal conditions observed during pregnancy may be indicative of underlying developmental differences rather than direct maternal influence on autism risk.

“Our study shows that there is no convincing evidence that any of these other diagnoses in the mother can cause autism,” study senior author Magdalena Janecka, Ph.D., also from the New York University Grossman School of Medicine, said in a statement. “Our interpretation is that these fetal diagnoses likely do not cause autism, but are instead early signs of it.”

This research highlights the importance of distinguishing between correlation and causation when evaluating maternal health factors and autism risk. While prenatal health is undoubtedly crucial for overall child development, these findings suggest that genetic and familial influences may play a more dominant role in autism than previously thought.

It is also worth noting that one of the study’s authors is currently employed by Takeda Pharmaceutical Company, which may be relevant when considering potential conflicts of interest.

These findings underscore the need for continued research into the genetic and environmental factors influencing autism, as well as further exploration of maternal health in pregnancy to better understand its role in early neurodevelopmental outcomes.

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