When Ginny Russo goes into labor sometime at the end of May, her first call will be to her doctor. Her second: to the researchers who want to collect her baby's placenta, umbilical cord blood and first dirty diaper.
They're part of the same crew that, during the course of her pregnancy, came to Russo's Carroll County 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, whether she was wearing sunscreen.
Researchers in a national study are interested in all of this because Russo already has a child, one with autism. That gives her unborn child much greater odds of also having an autism spectrum disorder. (The likelihood is less than 1 percent for the general population, but 20 percent 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 co-investigator 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. And that's what has made participating in the study especially appealing to Russo.
"Yes, I want to give back to research. I want to find answers," she said. "But the fact that they evaluate the child after they're born for the first three years, looking for the red flags, is what sealed it for me. We would be watching anyway on our own, but just knowing we're going to have regularly scheduled visits, especially given as early as they start — a lot of times you don't see the quote-unquote symptoms until later."
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 over the course of the past year, about 20 of them in Maryland, said M. Daniele Fallin, principal investigator for the study in Maryland, who is 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. In Maryland, the research is being conducted by Kennedy Krieger and Bloomberg. There are two locations in California and one at Drexel University in Philadelphia, home to the study's lead investigator, Craig J. Newschaffer.
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 autism spectrum disorder, up from 1 in 150 from two years ago, Fallin said. While some of that increase might be attributable to an increase in diagnosis, "a lot of people believe at least there is some increase in occurrence," Fallin said.
Since 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. She heard about the study early in her pregnancy and signed up right away.
"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 her first child, 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 Carroll County's infants and toddlers program. The evaluator who came out 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 came home and 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.
A lithe, cheerful, brown-haired boy who strips down to his boxers the moment he gets home from school and always walks around the house on tippy-toes, Tony can tell his parents what he wants but can't manage a typical chat.
"We don't have back-and-forth conversation," Russo said. "'Mommy, I want juice. Mommy, I want goldfish [crackers] a pink bowl.' He's very anal and specific."
So much so that when Russo set an after-school snack on the coffee table for Tony one recent afternoon, he promptly rearranged it. He needs his juice, for some reason, to sit to the left of his goldfish.
Tony is a very advanced reader. He once used alphabet puzzle pieces to instruct his father, Darryl, as he struggled to fix a computer, to "follow directions." But he thinks so literally that when he first read what was on the fire alarm at kindergarten, he did what it said: "Pull." Fire trucks were summoned and the whole school had to evacuate.
"He has a very literal mind," his mother said. "He doesn't think about consequences."
The challenges of raising one autistic child were enough to lead Russo to quit her job, a few months after his diagnosis, as an executive assistant at her father's insurance business. The prospect of having a second is even more daunting.
"In the beginning [of her second pregnancy], I wasn't worried," Russo said. "I don't know if it was hormones or what. 'Oh, we'll be fine.'"
Russo said her "mommy gut" told her early on that the baby she's expecting was girl. She was hoping for a girl because boys are four times more likely to have autism. But she started worrying that it might be a boy as her ultrasound appointment approached.
"I didn't even want to go to the ultrasound," she said. "I really went through a month of total freak-out. If we had another exactly like my son, yeah, we know how to deal with it. What if we had a child who was more severe?"
Ultimately, she went to the ultrasound and learned she was having a girl, which helped her relax again.
Of course, she knows there is still a chance that her daughter will be on the autism spectrum, which is why she welcomes the expert evaluations the girl will get through the study.
Having researchers come look at the cleaning products in her home or inquire if the pineapple she ate was canned, fresh, organic or conventional has certainly made her wonder if there are things she could be doing to improve her 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. "We all buy our cleaning supplies, disposable diapers, all the things we come in contact with — we don't even think about that they're not natural. They're made with chemicals."
Having read something online about a possible association between delivery-room drugs and autism — "I know just enough to be dangerous," Russo said with a laugh — she will try to have a natural childbirth this time. She is considering hiring a doula to help her accomplish that.
The EARLI study is just one of several active autism research studies currently recruiting families. Landa and Kennedy Krieger are also studying toddlers who are late talkers, baby siblings of children with autism, pre-term infants, and typically developing infants and toddlers.
But Landa urges families not to pass up on the opportunity to enroll in the EARLI study, something mothers can do up to their 28th week of pregnancy.
"This is sort of the study, OK, in terms of causes of autism," Landa said. "It's not the kind of thing like Macy's has a sale every month for some special event. 'Oh, you know, I'm going to pass on this.' Every single family counts."