Families open up their lives so researchers can better understand genetic, environmental factors in autism

From the Detroit Free Press:

When Ginny Russo goes into labor at the end of May, her first call will be to her doctor. Her second: to the researchers who will want to collect her placenta and the baby's umbilical cord blood and first dirty diaper.

They're part of the same crew that, during the course of her pregnancy, has come to Russo's Carroll County, Md., home to vacuum (and take what got sucked up with them), collect dust samples and poke their noses inside her cabinets and closets, making note of cleaning supplies, hair products and other chemicals on hand. They also took blood and urine samples and had Russo check in regularly to report any medicines she was taking, what she was eating and whether she was wearing sunscreen.

Researchers in a national study are interested in all of this because Russo's first child is autistic. That gives her unborn child much greater odds of also having an autism spectrum disorder. (The likelihood is less than 1% for the general population, but 20% for babies with an autistic sibling, according to Rebecca Landa, director of the Kennedy Krieger Institute's Center for Autism and Related Disorders and a coinvestigator for the study in Maryland.)

The national study, called Early Autism Risk Longitudinal Investigation, or EARLI, is tracking mothers of autistic children through subsequent pregnancies to try to determine how a combination of genetic and environmental factors might contribute to autism, a range of neurobiological disorders that affect communication and social interactions.

Researchers will conduct free developmental assessments on the babies from the time they are 6 months old until age 3, looking for signs of autism.

"I want to give back to research," said Russo. " I want to find answers. But the fact that they evaluate the child for the first three years, looking for the red flags, is what sealed it for me."

The 10-year, $16.5-million study, funded by the National Institutes of Health and a national advocacy and science organization called Autism Speaks, enrolled its first 100-plus families during the year, said M. Daniele Fallin, principal investigator for the study in Maryland and a genetic epidemiologist at the Johns Hopkins Bloomberg School of Public Health.

Ultimately, researchers hope to enroll 1,200 families through four research locations around the country -- Maryland, Philadelphia and two spots in California. The study comes at a time when autism appears to be on the rise.

The Centers for Disease Control and Prevention estimates that 1 in 110 children has an autism spectrum disorder, up from 1 in 150 two years ago. While some of that change might be attributable to an increase in diagnosis, "a lot of people believe at least there is some increase in occurrence," Fallin said.

Because the apparent increase has happened "in a time frame that is relatively recent," it suggests that something in the environment might be interacting with genetic factors to cause more autism, she said. Looking at everything the child is exposed to, in utero up through the third year, could help point to a cause.

"Pregnancy could be a very important window," Fallin said.

Russo, 36, was more than willing to throw that window open to researchers. "Given that I already have one child on the spectrum, and we do know there's a strong genetic component, I'm obviously worried about this next child having autism," she said.

Russo knew little about autism when she had Tony, five years ago. He was an easy baby, she said. "Looking back, he didn't babble. He really didn't cry a lot."

It was Russo's sister -- she baby-sat him while Russo worked and has three children of her own -- who first suspected something was wrong.

" 'He doesn't talk,' " Russo recalled her sister saying. "But I had the whole, 'He's a boy, they talk late,' in my head."

When Tony was two months shy of his second birthday and had a vocabulary of just five words, Russo finally called an infants and toddlers program in her county. The evaluator who came confirmed that his speech and fine motor skills were lacking. Russo followed up with her pediatrician, who suggested he might have Asperger's syndrome, a disorder on the autism spectrum.

"I had no idea what it was," she said. "I Googled it and then called my mother, hyperventilating."

Since then, Tony has been officially diagnosed with autism. Years of speech, occupational and behavioral therapy have helped him progress to the point where he can attend a mainstream kindergarten class for part of the day, albeit with a one-on-one aide and special education classes for all of his academics.

Having researchers look at the cleaning products in her home or inquire if the pineapple she ate was canned, fresh, organic or conventional certainly has made Russo wonder if there are things she could be doing to improve her soon-to-be-born daughter's chances of avoiding autism. But outside of trading Mop & Glo for a homemade floor cleaner made with vinegar and baking soda and buying natural shampoo for Tony, she has not changed how she lives.

"I wouldn't doubt it if there is something in houses or in the air that causes it, but I'm not sure if we're close enough to knowing," she said.