A recent study from the University of Virginia School of Medicine sheds insight on the development of autism spectrum disorder (ASD) in female brains. Scientists conclude that results taken from studies largely involving boys should not be considered applicable to girls.
The researchers identified a substantial variation in the genes and “genetic load” that drive the disease in males and females. They also discovered particular ways in which the brains of females with ASD vary from those without autism when it comes to social signals like facial emotions and gestures.
“This new study provides us with a roadmap for understanding how to better match current and future evidenced-based interventions to underlying brain and genetic profiles so that we can get the right treatment to the right individual,” says lead investigator Kevin Pelphrey, Ph.D., a top autism expert at the UVA’s medical school and Brain Institute, in a statement. “This advances our understanding of autism broadly by revealing that there may well be different causes for boys vs. girls; this helps us understand the heterogeneity within and across genders.”
To better understand the impact of ASD in females, the study coupled state-of-the-art brain mapping techniques with genetic analysis. Because the disease is four times more likely to occur in boys, these consequences have received less attention.
Pelphrey and the team investigated cognitive function during social encounters using functional magnetic resonance imaging (fMRI). They discovered that females with autism utilized different regions of their brains than non-autistic females. Interestingly, the variations in the brain observed when examining males with and without autism were different from the variations shown when comparing females with and without autism, indicating that distinct brain processes are at work in autism according to a person’s sex.
Similarly, the researchers discovered that the fundamental genetic factors were significantly different. Girls exhibited a considerably higher number of uncommon variations of genes that were active throughout the early development of the striatum, a brain area. This implies that the impacts on the striatum may add to the risk of ASD in females. Scientists believe the putamen, a portion of the striatum, is important in understanding both social contact and communication.
“The convergence of the brain imaging and genetic data provides us with an important new insight into the causes of autism in girls,” Pelphrey says. “We hope that by working with our colleagues in UVA’s Supporting Transformative Autism Research (STAR), we will be able to leverage our findings to generate new treatment strategies tailored to autistic girls.”
This study is published in the journal Brain.