Understanding the Female Protective Effect in Relation to Autism

It's been widely reported that approximately four times as many males are diagnosed with autism compared to females. But have you ever wondered why this is the case?

We're about to explore a theory that sheds some light on this intriguing phenomenon. Some researchers have proposed the concept of a "female protective effect" in relation to autism. It suggests that females may have a higher genetic threshold, making them less likely to be diagnosed with autism.

For example, consider the genetic condition Fragile X, which is often associated with autism. Fragile X syndrome is caused when there is a mutation, or change, to the FMR1 gene, which is located on the X chromosome. Since females have two X chromosomes, it has been suggested that if one is altered, the other fully functioning X chromosome can make up for the differences. Males, on the other hand, only have one X chromosome. If they have a mutation on the FMR1 gene, there is no compensation.

A recent study led by Elise Robinson, published in Cell Genomics, investigated the relationship between genetic autism risk and gender to determine if females indeed have a protective effect.

Their study suggested that the female protective effect is, in part, a contributor to the male bias in autism diagnoses, although they caution that more studies on the topic are needed.

As scientific journals and results can be difficult to read, we highlighted Dr. Robinson's research. We outline the study, the results and the implications in an easy-to-understand format.

Discover the latest findings, theories, and perspectives on the gender imbalance in autism diagnoses.

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