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Julia Fisch's five-year-old son Joey is a living puzzle.
He eats very few foods that are not orange in color. He likes to climb onto his mother's lap and dig his chin into her shoulder. When he's disappointed, as he was the last time they went to the zoo and his favorite tropical fish exhibit was closed, he throws unstoppable tantrums. "I would love to know what's going on in his brain," says Fisch, a 33-year-old middle-school teacher in Oakville.
Of course Fisch knows her son is autistic (and also deaf), but she's also painfully aware of the fact that no one knows what triggers the disorder that manifests itself in a lack of social interaction, repetitive behavior and odd fixations. For Fisch, the question always lurks in the back of her mind. "Every time I run across new research, or read a new book, I'm turned on again: 'Could this be the cause?'"
Washington University psychiatrists Kelly Botteron and John Constantino believe the key to answering that question, at least in part, lies in more advanced exploration of the rapidly growing brains of infants. Botteron and Constantino are part of a national study — the first of its kind in autism research — that will use magnetic resonance imaging (MRI) to scan the brains of babies, specifically the brothers and sisters of autistic children. "No one has looked at kids this young," says Botteron, who specializes in brain imaging.
The National Institutes of Health awarded $10 million for the study, which is being led by University of North Carolina autism expert Joseph Piven. Because of Botteron's experience in MRI and Constantino's expertise with autistic children, Wash. U. was invited to serve as the Midwest's hub for the potentially ground-breaking research. Teams at UNC, Wash. U., the Children's Hospital of Philadelphia and the University of Washington in Seattle are each recruiting 100 infant siblings of autistic children. They'll track the infants' development for two years.
The initial brain scan takes place when the children are just six months old. "There is so much brain development going on at that age," Botteron explains. "There could be a certain process that goes awry, or there could be several things that disrupt that process."
Fisch volunteered her younger son, one-year-old Ben, as soon as she heard about the new study. She and her husband, Joe, took turns driving to the Wash. U. medical campus around bedtime, so Botteron's team could run the child through the MRI machine while he slept. Ben could be in kindergarten before the scientists conclude the five-year study, but, says Constantino, it's kids like him who might someday unlock the "black box" of autism. "The parents are doing something extraordinary in that sense," he says.
Signs of autism don't appear until age two or three, but some researchers suspect the brain begins to change for the worse at an earlier age. "When the wheels start to fall off, and when things start to go wrong, is something we've never understood," Constantino says.
The Centers for Disease Control estimates that autism, or one of its related disorders, affects 560,000 people under age 21. While some parents point to mercury-laced vaccines as the culprit, scientists are focusing on genetics. Autism occurs more than once in at least 5 percent of families. When the disorder is more broadly defined, that rate of occurrence can be as high as 15 percent, Constantino says. He adds that the genetic link is apparent even among those siblings who don't develop autism.
"Napoleon Dynamite, that's what it looks like," he says, referring to the nerdy character in the eponymous 2004 movie. "And that's the lightest end of it. You can be significantly more severe than Napoleon and not meet the clinical definition."
Fisch understood the chance that she could have more than one autistic child, but she was willing to take the risk for a more balanced family. "I felt like our whole life, everything, revolved around Joey and his therapy," she says, sitting in her Oakville living room on a recent afternoon while Ben and his two-year-old sister Gwendolyn are napping.
Joey is home from school, and he hovers near his mother. Fisch raises her voice to be heard over his periodic shrieks, which she explains are just something he does. "When people are looking at me, I don't even care anymore."
With the MRI scans, scientists will be looking for a pattern of abnormality in synapse formation. "That's something that may actually show up on the images of these children," Constantino says hopefully. But, he concedes, the study might yield nothing, since other researchers have drawn no conclusions from scanning the brains of autistic adults. "Why would we expect to see anything different in the development of the brain when they're babies?"
Ben's first MRI scan was four months ago. Botteron's team sent Fisch home from the lab with a black-and-white copy of the image of her son's brain. To the untrained eye, the scan reveals nothing more than the fact that Ben sucks his thumb. But Fisch has another motive for enrolling her children in studies like this one.