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Yale researchers find clues to sex differences in autism

By Brita Belli
April 16, 2021
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It is well established that autism occurs much more frequently in boys than in girls, and that girls seem to have a greater resilience to developing the condition. It has been unclear, however, why that is.
In a new Yale-led study, researchers find that autism may develop in different regions of the brain in girls than boys and that girls with autism have a larger number of genetic mutations than boys, suggesting that they require a larger “genetic hit” to develop the disorder. ....

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Researchers find clues to sex differences in autism

Date Time
Researchers find clues to sex differences in autism
It is well established that autism occurs much more frequently in boys than in girls, and that girls seem to have a greater resilience to developing the condition. It has been unclear, however, why that is.
In a new Yale-led study, researchers find that autism may develop in different regions of the brain in girls than boys and that girls with autism have a larger number of genetic mutations than boys, suggesting that they require a larger “genetic hit” to develop the disorder.
“We know so little about how autism unfolds in the brain,” said Dr. Abha Gupta, assistant professor of pediatrics at the Yale School of Medicine and lead author of the study. “It’s important to be able to land on spots where the dysfunction might arise because that gives us more traction into where in the brain to look. We need to be accurate about this.” ....

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Studies Indicate How Mosaic Mutations Contribute to Autism Risk

Studies Indicate How Mosaic Mutations Contribute to Autism Risk
January 13, 2021
Two studies published in
Nature Neuroscience implicate mosaic mutations arising during embryonic development as a cause of autism spectrum disorder (ASD). The investigations, led by researchers at Boston Children’s Hospital, Brigham and Women’s Hospital (BWH), and Harvard Medical School (HMS), point to new areas for exploring the genetics of ASD and could eventually inform diagnostic testing.
The two reported studies were part of the Brain Somatic Mosaicism Network, funded by the National Institute of Mental Health. One study (“The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing”) exploited deep, ultra-high-resolution whole-genome sequencing to quantify and characterize mosaic mutations in the frontal cortex of people with and without ASD. The research was led by Rachel Rodin, MD, PhD, an ....

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Advances in understanding autism, based on

Two studies in today s
Nature Neuroscience, led by researchers at Boston Children s Hospital, Brigham and Women s Hospital (BWH), and Harvard Medical School (HMS), implicate mosaic mutations arising during embryonic development as a cause of autism spectrum disorder (ASD). The findings open new areas for exploring the genetics of ASD and could eventually inform diagnostic testing.
Mosaic mutations affect only a portion of a person s cells. Rather than being inherited, they arise as a mistake introduced when a stem cell divides. A mutation in a stem cell will only be passed to the cells that descend from it, producing the mosaic pattern. When mosaic mutations occur during embryonic development, they can appear in the brain and affect the function of neurons. The earlier in development a mutation happens, the more cells will carry it. ....

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