Maternal PCOS tied to increased likelihood of having a child with autism

Women with polycystic ovarian syndrome (PCOS) are at greater odds of having a child with autism spectrum disorder (ASD) and are more likely to be diagnosed with ASD themselves, according to the results of a meta-analysis.

Researchers searched multiple online databases for cohort (both prospective and retrospective), case–control or cross-sectional studies that reported ASD diagnosis in the offspring of women with PCOS or on ASD diagnosis in women with PCOS.

The meta-analysis included 10 studies involving 33,887 ASD children and 321,661 non-ASD children. Pooled data revealed that the primary outcome of odds of ASD in the offspring were 1.66 times as great for mothers who were diagnosed with PCOS (95 percent confidence interval [CI], 1.51–1.83; p=1.99 × 10⁻²⁵; seven studies; I², 0 percent).

Additionally, a PCOS diagnosis was associated with 1.78 times higher odds of having concomitant ASD (95 percent CI, 1.10–2.87; p=0.0179; five studies; I², 85.4 percent). The results were robust to additional analyses controlling for potential confounding factors.

Overall evidence quality according to the Newcastle–Ottawa Scale was high. The pooled effects size had low heterogeneity for the primary outcome. On the other hand, the heterogeneity for the secondary outcome was attenuated when only high quality studies were included.

The researchers noted that a common gene polymorphism predisposing to PCOS and ASD is a plausible mechanism for the observed associations, given the apparently increased odds of an ASD diagnosis in both women with PCOS as well as their offspring.