Researchers identify potential biological factors in autism sex differences

New research offers potential explanations for why autism is diagnosed significantly more frequently in males than females.

A study led by Boston Children’s Hospital suggests that the ZFX gene, located on the X chromosome, may play a protective role in females. Unlike most genes on the X chromosome that are silenced in women, ZFX typically remains active on both copies. This higher baseline expression may provide a buffer against autism-related genetic disruptions.

Complementary research from Cold Spring Harbor Laboratory investigated the role of pregnancy conditions. Using mouse models, scientists found that maternal immune activation and placental changes can lead to autism-like traits. Notably, these developmental abnormalities appeared only in male fetuses when inflammation occurred at a specific stage of pregnancy, while females developed normally. These findings suggest that early developmental windows and genetic expression patterns may contribute to the observed sex disparity in autism diagnoses.