A View From Both Sides: Scientist and Father
Kevin Pelphrey has a special perspective on autism. He has two children with the condition, a 13-year-old daughter, Frances, and a 9-year-old son, Lowell. He’s also devoted his scientific career to studying autism. He is now the director of the Autism and Neurodevelopmental Disorders Institute at George Washington University, in Washington, D.C., and he has published more than 50 papers on the topic. “I love what I do because it’s directly relevant to my family,” says Pelphrey. “I’m doing things that directly impact my kids.”
As a young neuroscientist, Pelphrey wasn’t planning to focus his career on autism. “Frankly, it seemed too complex a disorder to go after,” he says. But in 2007, Frances, then age 3, got an autism diagnosis. “I jumped back in,” he says.
Frances and Lowell are very different, which has given Pelphrey first-hand insight into autism’s diversity. Like many girls with the condition, Frances doesn’t fit the typical picture of autism. She had physical delays, as well as difficulties with language and emotion regulation. But she was incredibly socially motivated, Pelphrey says. “Frances loves social interaction. She’s just not always good at it.”
Frances’s younger brother showed more typical symptoms of autism, including lack of eye contact and little interest in social interaction. As a result, Lowell was diagnosed much earlier. Both Frances and Lowell received early intervention. But Lowell responded particularly well to these therapies, including occupational therapy, speech language therapy, and pivotal response treatment. Today, he no longer meets the diagnostic criteria for autism. “He ended up being what people call an ‘optimal outcome,’” Pelphrey says. “He’s a smart, shy, socially awkward little boy.”
As one might expect, the Pelphreys are avid research participants. In fact, Lowell was first diagnosed as part of an assessment for the Simons Simplex Collection, a genetic study of autism families. (The SSC is funded by the Simons Foundation, which also supports SPARK.) The Pelphreys try to sign up for every research study they’re eligible for, as long as the kids are on board. “We want to give back for what people have given us,” Pelphrey says. He and his wife also take part in studies of parents of children with autism. “We often wonder why they aren’t having us do more stuff,” he says.
Given Frances’s and Lowell’s different presentations of autism, Pelphrey is particularly interested in figuring out how different therapies work for different kids. Lowell, for example, no longer meets the diagnostic criteria for autism, so he is ineligible for most studies. Pelphrey argues that cases like Lowell’s offer a unique opportunity. “I am interested in studying those kids because that can tell us something about what’s different about his brain that let him overcome it,” Pelphrey says. “Is it just because he got an early diagnosis, or was he already doing so much better?”
Pelphrey and his family have undergone extensive genetic testing as part of various research studies. The results show how interpretation of genetic testing results can change over time. In 2009, scientists found that both Pelphrey and Frances carry a small duplication of DNA on chromosome 4. Because Pelphrey has the duplication, researchers initially thought it did not play a role in autism. However, since the original genetic testing, other research groups have identified several people with autism who have the same duplication. Researchers now recognize it as being a rare genetic variant linked to the condition, Pelphrey says.
Reflecting back on his childhood, Pelphrey says he probably had signs of autism. “I am not typical — I talked late and was always very shy and socially anxious,” he says. “Most people who meet me now would be surprised. But that’s because I’m mostly talking about science, and that’s my special interest.”