SPARK Autism Study: A Family Perspective
When Heather Hesteness’ son Joe was three years old, his speech was not developing as expected. Heather describes that “he had about 20 words at a time, but they would not stay the same…words would drop off. ” At that time, Joe was diagnosed with Autism Spectrum Disorder. It would begin an ongoing journey to find answers and help Joe live his best life.
In 2016, Heather discovered Simons Powering Autism Research for Knowledge or SPARK, a national autism research study and a growing community of autistic individuals, their families, and researchers on a mission to advance the understanding of autism. The University of Minnesota has been a SPARK site since 2016. The U of MN team helps families in the region learn about unique and ongoing resources from the largest autism study in the U.S.
Suma Jacob, MD, has been involved in autism research for several decades and is the principal investigator leading SPARK at the University of Minnesota. “This study is exciting because each year, new gene regions are identified and investigated. Unlike standard procedures, we can study hundreds of selected regions. Most research studies end after a few years and don’t share specific findings with participants,” Dr. Jacob said. “Once a family is involved with SPARK, they benefit from new discoveries and will be contacted if they want to learn about their findings.”
The SPARK study appealed to Heather because they could participate without doing things that were uncomfortable for Joe, such as blood draws or visits to the doctor. With simple saliva collection, the family could receive genetic information about Joe while contributing to critical research. Heather added that this could be a valuable resource for rural families hesitant to make long commutes for research. “I could do these things without leaving the house, which was good for us,” Heather said.
By participating in genetic testing available through SPARK, Heather learned that Joe has a specific genetic mutation associated with Coffin-Siris syndrome and in the etiology of autism. Joe doesn’t have the obvious physical features of Coffin-Siris, but it may provide more information about his developmental challenges. Heather received genetic details on herself as a participant: “I also have a duplicated gene associated with Autism and may be on the spectrum as well, which doesn’t surprise me.”
When asked what she would tell prospective participants, Heather said, “It makes me feel better that I can do something that helps other families. The more information you can get, the better, especially early on.”
Get Involved with SPARK
By participating in SPARK, individuals can make a difference for someone in the future. SPARK is for anyone living in the U.S. with a clinical or educational diagnosis of autism spectrum disorder (ASD) and their family members. There is no participation cost; your data is kept private and secure.
“The U of M team is available to help families at every step of the process. For example, some children have never given a saliva sample, and our team has helpful approaches to make it easy for them. We can also assist families if they have questions about results and resources,” said Dr. Jacob.
SPARK will request essential information about each individual and any participating family members upon joining. Additionally, there is an option to share genetic information (DNA) obtained from saliva samples, although this is not a requirement for study participation. As time passes, participants can complete as many or as few tasks as desired, all of which can be accomplished using a mobile phone, desktop computer, or any device.
If participation is not a good fit right now, there is a SPARK newsletter to stay informed about news and recent developments related to Autism.
Visit sparkforautism.org to register and learn more.