Abstract

Autism spectrum disorder (ASD) has historically been diagnosed more frequently in males than females. One explanation for this is the ‘female protective effect’: that there is something inherent in being female that makes girls and women less susceptible to ASD. Another possibility is that ASD is under-diagnosed in girls and women, due to the existence of a ‘female autism phenotype’, which is not well captured by current, male-biased diagnostic criteria. To evaluate the ‘female protective effect’ and ‘female autism phenotype’ hypotheses, this narrative review describes recent developments exploring the genetic underpinning and behavioral expression of ASD in females. We then look at the ways to better identify females with ASD who may be missed under the current diagnostic criteria.

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