Wendy Humphrey’s son was just a toddler when an alert pediatrician referred him for special services to help him cope with developmental delays. By age 5, Mason was diagnosed with autism.
“The early intervention was absolutely what he needed and what we needed,” Humphrey of Parsonsfield said.
Now 16, Mason is high functioning, though he still struggles with the disorder, Humphrey said. Over the last decade, the family has accumulated a wealth of knowledge about autism and its treatment, even prompting a career change for Wendy, who works with students with autism in their school district.
That desire to help others understand the disorder recently prompted her to enroll the family in a landmark research project on autism. The SPARK study, short for Simons Foundation Powering Autism Research for Knowledge, aims to enroll 50,000 people with autism and their families across the country.
That makes it “the largest study ever to be performed in autism research,” Dr. Matthew Siegel, principal investigator for SPARK Northern New England, said.
The SPARK research initiative is 10 times broader than the next largest study of its kind, he said.
“I think we’ll look back in 10 or 20 years and recognize that this study was a point where our understanding of autism began to accelerate,” he said.
Siegel is based at Maine Behavioral Healthcare in South Portland and the Maine Medical Center Research Institute in Scarborough, the two organizations chosen to lead the national study in northern New England. They are among 25 such clinical sites nationwide.
Researchers are enrolling individuals with autism as well as both biological parents, in trios that should enable scientists to identify whether an autism gene was passed down from a parent. So far, nearly 300 people in the region have registered for the study. Researchers plan to enroll 200 trios during each of the three years of the study, now in its first year.
The hope is to better identify the genes that play a role in the development of autism, eventually leading to medications and therapies tailored to the specific characteristics of the disorder. Autism comes in many forms, resulting from a combination of genetic and environmental factors, experts say.
Autism spectrum disorders are characterized by challenges with social and communication skills and repetitive behaviors, as well as by unique strengths and differences, advocates point out.
The U.S. Centers for Disease Control and Prevention estimates that 1 in 68 children in the U.S. has autism, more than double the rate in 2000. Increased awareness and changes to the criteria for diagnosing the disorder likely account for much of that rise, experts say.
The prevalence is much higher among boys.
In Maine, data about the rate of autism conflict, according to a 2015 state report. According to data collected by schools, there were 2,978 children with autism in 2014, marking the first decline in more than 20 years. But Maine’s Medicaid program saw a nearly 900 percent increase in the number of beneficiaries diagnosed with autism that same year, most of them under age 21.
Studies indicate that genetics account for 60 percent to 70 percent of the development of autism, Siegel said. Scientists have identified approximately 50 genes that likely play a role in autism, but believe at least 300 or more could be involved.
The wide scope of the SPARK study is expected to give researchers enough genetic samples to better pinpoint how the brains of people with autism differ.
“What we don’t know, and what this study will do I think, is more specifically identify particular genes that lead people with autism to have [certain] characteristics,” Siegel said.
Small sample sizes are often problematic with autism genetics research, said Deborah Rooks-Ellis, director of the Maine Autism Institute for Education and Research at the University of Maine. The institute is not directly involved with the study but has shared it with families and educators, she said.
“There are so many unanswered questions about autism and the diagnosis of autism and how autism even becomes autism,” she said. “So being able to collect this data from so many families and so many people that are affected by autism is just a brilliant idea.”
Armed with the study’s vast dataset, autism researchers a decade from now could potentially identify differences in an individual’s DNA that place them into a subgroup known to exhibit certain characteristics, such as hearing loss or anxiety, he said. Ideally, individuals with autism could then be treated with medication or therapy proven to be effective for their population, Siegel said.
The approach parallels the development of “personalized medicine” in the field of cancer treatment, he said. Today, doctors consider not only the organ that the cancer has invaded, but also the genetics of tumors in deciding which chemotherapy drug to use, for example.
“Autism is where cancer was 20 or 30 years ago,” Siegel said.
Participating in the study is designed to be convenient for individuals with autism and their families, he said. Participants can register online and submit their DNA through saliva kits shipped to their homes.
“So often we see studies with limited participants occurring only at large research-type centers or hospitals,” Rooks-Ellis said. “This study allows families to participate from home or by visiting a participating center.”
In addition to a small stipend in the form of a gift card, enrollees can choose to be contacted for future autism studies. SPARK also provides access to online resources for people with autism, including information about how to manage behaviors and advice on transitioning to adulthood.
“I don’t see a cure, but I definitely would love to find out how it’s created, how it starts,” Humphrey said.