Girls & autism

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.”

WHAT SCIENCE SHOWS

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.

“The surprising thing we are finding is that even in girls who clearly have autism,” brain regions involved in social behavior that are normally affected are less severely impaired, he said.

Recent studies on autism-linked genes have found another gender difference.

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. That possibility is likely a long way off, but Pelphrey said this line of research has prompted excitement among autism scientists.

MAKING A DIAGNOSIS

There’s no autism blood test. It’s diagnosed by observing behavior and some experts say gender-based differences highlight a need to develop different ways to evaluate boys and girls.

Autism screening is recommended for all kids at age 18 months and 2 years. But screening tools typically are based on research in autistic boys, said Rachel Loftin, clinical director of an autism center at Rush University Medical Center in Chicago.

One widely used screening questionnaire for parents focuses on social deficits seen more often in autistic boys than affected girls. Questions include “Does your child play make-believe, make eye contact, seek praise, show interest in other children?” Girls with autism, especially mild cases, often don’t show obvious problems in those categories – they’re more likely than affected boys to play pretend with toys rather than lining them up by size or shape. Loftin said they’re also more likely to show concern for another person’s feelings.

Government data show that all forms of autism – mild to severe – are more common in boys and that the average age at diagnosis is 4 years in boys and girls. But Loftin said anecdotal evidence suggests a two-year lag time in diagnosis for girls, especially those with mild cases. And she suspects many cases are missed or misdiagnosed. That means a delay in early intensive behavior therapy that is the main treatment for autism.

Some girls manage to camouflage symptoms until school pressures to fit in become overwhelming, delaying diagnosis until around age 8 or 9, said Alycia Halladay, chief science officer at the Autism Science Foundation, a nonprofit educational and research-funding group.

Prominent autism advocate, professor and author Temple Grandin didn’t fit that mold. She wasn’t fully verbal until age 4. “It was obvious something was drastically wrong with me,” Grandin said. With “1950’s parenting” including intense encouragement to develop social skills and other talents, she said she learned to adapt.

 

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