Autism subtle or absent for some at risk
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 basedonresearch in autistic boys, says RachelLoftin, 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 says 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 says 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, says AlyciaHalladay, 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 says. With “1950s parenting” including intense encouragement to develop social skills and other talents, she says she learned to adapt.
AllisonKlein worried about possible autism in her daughter, Jillian, for three years before the little girl was finally diagnosed. Jillian couldn’t tolerate loud noises, grew withdrawn around her preschool classmates and lagged behind their academic progress. She was labeled anxious, not autistic.
“She didn’t meet the stereotypical behaviors of no eye contact, no communication, hand flapping,” Klein says. “It was always the hands-off approach” from teachers and doctors.”
“They’d say “’Let’s wait and see. Give her some time, she’ll grow out of it. She’s just shy,’” Klein recalled. “People dismiss it in girls.”
A few months ago, just before Jillian turned 6, Rush University’s Loftin confirmed Klein’s concerns. Jillian has mild autism. Now the family is playing catch-up in getting her needed services.
Buxbaum, the Mount Sinai researcher, is seeking to enroll hundreds of families with autistic sons but unaffected daughters in a study looking for genetic clues and protective factors. Funded by the Autism Science Foundation, the Autism Sisters Project began last year with the goal of building a big database that other scientists can use. Girls and their families visit the New York lab to give saliva samples forDNAanalysis and efforts are underway to expandDNAcollection to other sites.
Evee Bak, 15, hopes her saliva samples will eventually benefit her older brotherTommy. The suburban Philadelphia siblings are just a year apart. They play ina garageband— Eveeon drums, Tommy on guitar and vocals. He’s a masterful musician, but has trouble reading social cuesanddoing 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 says.
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,” says his mother, Erin Lopes. But they’d welcome anything that could help him function as independently as possible “because I think that’s what he really wants, is to be independent.”
Evee Bak, left, talks with her brother Tom Bak while they wait to talk with reporters at the Seaver Autism Center at Mount Sinai Hospital in New York. Tom has autism but Evee doesn’t. The gender effect is a hot topic in autism research and one that could lead to new ways of diagnosing and treating the condition.