Unraveling autism’s gender differences
Chicago — Think autism and an image of an awkward boy typically emerges. The developmental disorder is at least four times more common in boys, but scientists taking a closer look are finding some gender-based surprises: Many girls with autism have social skills that can mask the condition. And some girls are born without autism despite the same genetic mutations seen in boys with the condition.
The gender effect is a hot topic in autism research and one that could lead to new ways of diagnosing and treating a condition that affects at least 1 in 68 U.S. children.
Better understanding of gender’s role is key to helping the most people, said Kevin Pelphrey, an autism researcher at George Washington University. “Autism may not be the same thing in boys and girls.”
The causes of autism aren’t known but various genetic mutations are thought to play a role and outside factors including older parents and premature birth also have been implicated. Brain imaging suggests there may be an additional explanation for why many girls with autism have more subtle symptoms, Pelphrey said.
Girls can have the same kinds of genetic mutations seen in boys with autism, “and even need to have twice as many mutations on average to actually manifest with autism,” said Joseph Buxbaum, director of an autism center at Mount Sinai medical school in New York City.
Buxbaum is among researchers trying to identify a “protective factor” that may explain how some girls at genetic risk remain unaffected, perhaps a protein or other biological marker that could be turned into a drug or other therapy to treat or even prevent autism.
Buxbaum is seeking to enroll hundreds of families with autistic sons but unaffected daughters in a study looking for genetic clues and protective factors.
Evee Bak, 15, hopes her saliva samples will eventually benefit her older brother Tommy. The suburban Philadelphia siblings are just a year apart. They play in a garage band— Evee on drums, Tommy on guitar and vocals. He’s a masterful musician, but has trouble reading social cues and doing things that come easy to other teens, like shopping alone or using public transportation.
“The thing at the forefront of my mind is mostly just taking care of Tommy and making sure he’s happy and healthy,” Evee said.
Tommy was diagnosed at age 3, after he stopped using words he’d learned months earlier and showed unusual behavior including repetitively lining up toys instead of playing with them.
“He’s a wonderful person and I don’t think that we’d ever want to change him,” said his mother, Erin Lopes. But they’d welcome anything that could help him function as independently as possible.