Autism subtle or absent for some at risk

A mom's concern

Allison Klein 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 Jillian couldn't tolerate loud noises, grew withdrawn around her preschool classmates and lagged behind their academic progress.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.

Siblings and autism

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 for DNA analysis and efforts are underway to expand DNA collection to other sites.

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 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."