An Unexpected Answer to an Autism Question
Date Revised: October 22, 2021
We are celebrating SPARK’s fifth anniversary with stories about the first people who joined.
The Juritzas did everything to help their young son, who has autism, learn to speak. They took Nick to doctors and tried different therapies.
About five years ago, they heard about a new autism research study called SPARK. “We were just looking for anything that might help, and at that point we were looking at research or clinical studies that might give us more insight into what might be causing his autism,” says Nick’s mother, Kelli Juritza.
The Juritzas, who live in Illinois, became one of the first families to join SPARK in 2016. Since then, SPARK has grown to more than 275,000 participants.
Kelli and her husband, Rob, and their children Nick and Giada, contributed saliva samples for DNA analysis by SPARK. Nick had previously undergone genetic testing, which did not show anything. But SPARK was performing a more thorough type of DNA analysis in its search for genes that contribute to autism.
The Juritzas did not really suspect a genetic cause to Nick’s autism. “We had no idea. Was it the gut, like everybody says? Was it something I did prior to or during my pregnancy? I had no clue,” Kelli says.
About a year ago, SPARK contacted Nick’s parents. SPARK had big news about Nick, who is now 13, and about them. In a way, the news would change how they approached his autism.
A Happy Boy, From Day One
Nick came into the world with a sunny disposition. “From the day he was born, he was happy as can be,” Kelli says.
As a baby and toddler, he sat up, crawled, and walked later than most children do. He also did not talk or imitate words, or point to things he wanted. Speech delays can cause frustration and difficult behavior in many children as they struggle to communicate. But Nick was different. He did not have tantrums or hit, and he slept and ate well. “He’s a gentle soul,” his mother says.
Nick began early intervention services for his developmental delays around age 1, and his parents began their search for answers. Why wasn’t he talking or imitating people? “I took him to so many doctors, so many therapies, so many different places,” she remembers. “He was engaging, happy, and social,” his mother says, “so I think it was hard for a lot of people to diagnose him, and it took a long time.”
The Autism Diagnosis
Finally, around age 5, he was diagnosed with autism. His parents enrolled him in Applied Behavior Analysis (ABA) therapy. ABA is an evidence-based autism therapy that focuses on teaching tasks by breaking them into smaller steps.
Nick still receives ABA therapy after school, and he enjoys it, Rob says. “We’ve always been told by his therapists that Nick is so smart, but he just can’t get it out,” Kelli adds. She says they are lucky that their health insurance covers the therapy.
Nick can say a few words, and also communicates using an electronic device with a speech-generating program. Nick selects words or phrases on the device, and a computer voices says the words out loud. He navigates that device like an expert, his mother says. “His big thing is electronics.”
Nick can operate the television remote, and find videos he likes on a mobile phone. He plays his favorite video games, and wins, even though he barely looks at the screen. He also likes to spend time with books, point to words, and try to say them. “He wants to talk so bad,” his mother says.
He struggles with some motor skills, such as holding a pencil, fork, or spoon. He is in a special education classroom at school for core subjects. He also has classes, such as technology and physical education, with students who do not have learning disabilities.
Getting Genetic News from SPARK
When the Juritzas first heard about SPARK, possibly during a visit to Nick’s doctor at Rush University Medical Center in Chicago, they did not expect to get a genetic diagnosis from the study.
Several years after they joined, they got an email from SPARK about their DNA results. SPARK put them in touch with a genetic counselor. The counselor explained that Nick has EIF3F-related syndrome, which is linked to autism.
Nick has two copies of a change to his EIF3F gene ─ one copy from each of his parents. “I was shocked,” Kelli says.
People with one copy of the genetic change likely would not know it, because it would not cause any issues for them.
Nick is one of a handful of people worldwide who are known to have EIF3F-related syndrome. The condition is linked to learning problems, repetitive or autistic behaviors, hearing loss, and seizures, according to a study of nine people.1 Nick does not have seizures or hearing loss.
The Juritzas say that they are glad to have an answer, one that provides a path forward.
Rob Juritza says that he hopes a treatment could be developed to help Nick’s EIF3F genes function better.
The family enrolled Nick in SPARK’s sister program, Simons Searchlight, which promotes research into rare genetic conditions that are related to autism and developmental delays. Simons Searchlight has registered five people with an EIF3F change. It also runs a Facebook group for the condition, with 17 members.
Kelli says she was glad to learn that gastrointestinal problems are not involved in Nick’s autism, as she had first believed. She says she does not need to continue with a special diet she had started with Nick.
The genetic diagnosis also led to another change. She used to wonder if Nick’s autism was triggered by something that might have happened during her pregnancy or delivery. Now she can let go of those feelings.
“We’ve been so lucky to have someplace that is testing kids’ saliva, like SPARK is doing,” she says. “It’s amazing that people are actually getting answers.”
Photo provided by Kelli Juritza
- Martin H.C. et al. Science 362, 1161-1164 (2018) PubMed