Study suggests autism develops differently in girls than boys

Kevin Pelphrey Phd Autism
A team led by Kevin Pelphrey, PhD, a top autism expert at the University of Virginia School of Medicine, discovered that there is a significant difference in the genes and "genetic burden" that underpin autism in girls and boys. UVA Communications

CHARLOTTSVILLE, Va. — New research sheds light on how autism manifests in the brains of girls, prompting scientists to warn that conclusions from studies conducted on boys should not be assumed to hold true for boys.

Researchers discovered that there’s a significant difference in the genes and “genetic burden” that underpin the condition in girls and boys. They also found specific ways autistic  girls’ brains respond differently to social cues such as facial expressions and gestures, than girls without autism.

“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,” said lead investigator Kevin Pelphrey, PhD, a top autism expert at the University of Virginia School of Medicine and UVA’s Brain Institute. “This advances our understanding of autism broadly by revealing that there may well be different causes for boys vs. girls; this helps us understanding the heterogeneity within and across genders.”

The research combined cutting-edge brain imaging with genetic research to better understand how autism effects girls, which has been poorly explored due to the condition being four times more common among boys.

Researchers used functional magnetic-resonance imaging (fMRI) to examine brain activity during social interactions. They found autistic girls used different sections of their brain when compared to girls without autism, and that these differences were not the same as the ones in boys with and without autism. This revealed that different brain mechanisms were at play in autism, depending on gender.

Underlying genetic contributors were different as well, where girls had much more rare variants of genes active during early development of the striatum region in the brain. This suggests that the effects on the striatum may contribute to the risk of girls developing autism.

Scientists believe that a section of the striatum called the putamen is involved in interpreting both social interaction and language.

“The convergence of the brain imaging and genetic data provides us with an important new insight into the causes of autism in girls,” Pelphrey said. “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.”