The Female Protective Effect for Autism

Female_RoseIt is a common-known fact that autism is more prevalent in males than females. With such a significant difference in diagnosis rates between genders, scientists are now focusing on studying girls, seeing if there may be a breakthrough in understanding this disorder by analyzing their genetic differences. 

Most studies indicate that boys are 4 to 5 times more likely to receive an autism diagnosis than girls. However, there is a very limited understanding as to why this gap is so severe. Despite having a lower rate of diagnoses, girls with autism often have more genetic mutations than their male peers. Girls often have large duplications or deletions of DNA in their genome, often resulting in more severe symptoms of the disorder.

Although girls have more variations in their DNA, a risk factor for autism, scientists have long been puzzled as to why girls receive fewer diagnoses. This leads many to believe that something in their genetics creates protection against autism, a concept known as “the female protective effect”.

Dr. Elise Robinson of Massachusetts General Hospital led a study which explored this effect in twins, where one twin had an autism diagnosis. By studying the unaffected siblings, the researchers found that siblings of females with autism showed more symptoms of the disorder, than siblings of males with autism. This led to further evidence of the protective effect. This supports the theory that females require a higher number of genetic mutations in order to have enough symptoms to reach the level of an autism diagnosis (using clinical testing tools).

Dr. Jake Gockley of the Yale School of Medicine wanted to study the protective effect by looking at the X chromosome (females have two X chromosomes, while males have one X and one Y chromosomes), as possible mutations on the X chromosome could be a major point of study. After examining the chromosome extensively, they could not uncover one gene leading to the “protective effect”. Researchers will need to focus on much larger data sets in order to gain some leads towards better understanding this theory.

Although there are still no clear-cut answers towards the creation of “protection” within girls, these initial findings warrant a focused study of unaffected sisters of individuals with autism in an effort to identify this potential protective effect. If researchers can uncover a factor that leads to protection, it can potentially be utilized to develop treatments that protect both girls and boys, or lead to groundbreaking therapies than can aid in development.

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