Kepler Porterfield is a spunky 5-year-old who’s fascinated by fire alarms. He likes to go exploring downtown, looking for buildings with the most accessible fire alarms; once he even pulled the red trigger at his school, setting off a piercing siren.
“He thought it was funny, but he’s in preschool so he kind of gets a pass,” says his father, Harry Porterfield.
Kepler had a rough road medically when he was born and spent a lot of time in the hospital after being diagnosed with cystic fibrosis. His father and mother, Amanda Sapir, moved the family to Iowa City a year ago to gain access to care for Kepler at University of Iowa Hospitals and Clinics.
Despite his health challenges, Kepler was a charming, social baby loved by all the doctors. Amanda read books to him every night, and he was sight reading by 18 months. So it came as a bit of a surprise when Kepler was diagnosed with autism at age 3.
“He had this remarkable vocabulary and was reading,” Harry says. “But we realized that even though he was reading, he wasn’t really communicating and talking. And being first-time parents, it didn’t really register until we got him in preschool.”
Although his physical health is stable, Kepler’s family has found that working with his autism is less straightforward, as they try to identify what triggers meltdowns or the reason he sometimes dashes away in a sprint.
“It’s hard to know what to do. When he does blow, it’s significant,” Amanda says. “I’ve been trying to find effective responses for five years now. Sometimes we are successful with an approach, and sometimes that same approach doesn’t help.”
Other aspects of autism are more predictable, such as Kepler’s fascination with fire alarms and trains, or phrases he picks up and repeats from movies or TV shows.
The family works on behavioral interventions with Todd Kopelman, PhD, UI clinical assistant professor of psychiatry, and regularly participates in research that looks into the causes and potential treatments for both autism and the rarer cystic fibrosis.
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Jacob Michaelson, PhD |
Both parents have family members with autism, so they say it’s been interesting to think about the genetic components of the disorder. They recently worked with Jacob Michaelson, PhD, UI assistant professor of psychiatry, who established an NIH-funded research program that focuses on genome informatics and the genetics of neurodevelopmental diseases, such as autism.
Last year, Michaelson’s lab was awarded a three-year, $450,000 grant from the Simons Foundation to participate as the only Iowa site in the SPARK network. SPARK (Simons Foundation Powering Autism Research for Knowledge) aims to recruit 50,000 people with autism spectrum disorders, along with their family members, to study genetic and environmental factors related to autism.
Enroll here
“Since every kid is like a genetic snowflake, you need really big numbers to capture the genetic diversity that’s out there in autism,” Michaelson says. “You could take a clinician that has worked their whole life seeing autistic kids and chances are they have never seen the same genetic cause of autism twice in their career.”
Enrolled families receive a kit by mail that includes a tube for saliva collection. Once they return the samples and fill out basic information online about their experience with autism, they gain access to their very distinct genetic data that has the potential to connect them with others with similar forms of autism.Using the SPARK network, qualified researchers will have access to genetic and medical data, and they will also have the opportunity to re-contact individuals with specific genetic or clinical profiles for more focused studies.
“You might have a diagnosis of autism and yet still feel very lonely because nobody quite has the same autism that you do,” Michaelson says. “I think ultimately the goal of this kind of research, because it’s casting such a broad net, is to find other people that also have similar forms of autism.”
Michaelson’s lab already has built a large genetic registry of neurodevelopmental conditions with roughly 900 individuals involved. Enrollment in the SPARK study through the UI is expected to be even higher.
Building a registry of neurodevelopmental issues
Leaders in the UI Department of Psychiatry are also building a neurodevelopmental registry to capture clinical data of people with intellectual disability, autism, or a combination of the two. The information will be used by UI researchers to better understand the disorders and improve treatments.
Jodi Tate, MD, UI clinical professor of psychiatry and vice chair for clinical services, is spearheading the initiative in hopes of integrating data collection with daily clinical work.
“Everybody’s kind of doing their own thing now,” Tate says. “The idea is to combine all of these efforts and get researchers and clinicians working together on a project that could both improve patient care and research.”
Psychiatry will partner with members of the UI Center for Disabilities and Development, the Iowa Neuroscience Institute, the UI Department of Pediatrics, and ultimately with institutions across the Midwest.
Although the research done by Michaelson and his colleagues is methodical and requires advanced computational skills, there’s also a human side to the work.
Michaelson’s research team has spent countless hours in families’ homes, sharing and explaining the data being collected. During that time, his team has witnessed the empowerment families experience while participating in research.
“One thing that is really great about the autism community is that it is a very identity-driven community,” he says. “They’re very altruistic as well and they’re very interested in contributing to the greater good.”
ABOUT SPARK
• Researchers have identified about 50 genes with a role in autism; they suspect at least 300 more genes are involved.
• To help identify additional genes, the SPARK study seeks to enroll 50,000 people with autism, and their families, because DNA from the biological parents of a person with autism can determine if an autism gene is hereditary.
• To learn more or enroll in SPARK:
SPARKforautism.org/uiowa
319-335-8882