For kids with Down syndrome, a new device offers hope for treating difficult sleep problems

Kate Dougherty pairs all of her son Elliot’s doctor’s appointments with a treat, like a trip to his favorite lunch spot or a professional bull riding show — one of Elliot’s favorite sports, right behind baseball and basketball. So when they flew from Missouri to Boston in 2018 for Elliot to have a new device implanted into his chest to treat his sleep apnea, the treat had to be big. Three days after the surgery, Elliot was at his first Red Sox game.

Since then, “it’s been a miracle,” his mother said.

Thirteen-year-old Elliot, who has Down syndrome, has dealt with obstructive sleep apnea for his entire life. The issue — which happens when someone can’t get enough oxygen while asleep — affects about 80% of people with Down syndrome and can lead to brain fog, ADHD-like symptoms, and a host of other issues. The problems can often be written off as “oh that’s just Down syndrome,” Dougherty said. “But there is no ‘that’s just Down syndrome.”

Elliot received the implant as part of a Phase 1 clinical trial, the results of which were published Thursday in JAMA Otolaryngology — Head & Neck Surgery.

For kids with sleep apnea, the first line of treatment is to remove the tonsils and adenoids. Elliot had this surgery when he was 4 years old, and his mother said it worked for a short time. But the sleep apnea came back in full force, as it does for many kids with Down syndrome who tend to have bigger tongues and lower muscle tone. The next treatment option is a CPAP machine, which uses a face mask to keep a person’s air pressure steady while they sleep. But kids with Down syndrome also have sensory issues or feel fidgety, and many are unable to wear the mask for those or other reasons.

The options are limited after that. Some people have surgery to reduce their tongue size and create space in the airway, but Dougherty didn’t want to resort to that for Elliot.

At a conference on Down syndrome, she heard about a new study to test a device called a hypoglossal nerve stimulator. It’s like a pacemaker, implanted in the chest with a direct line to the tongue. The device — turned on in the evenings using a remote control — stimulates a nerve to move the tongue throughout the night, opening the patient’s airway.

The technology, developed by the Minneapolis-based company Inspire, earned FDA approval in 2020 for adults with sleep apnea. When pediatric ear, nose, and throat physician Christopher Hartnick saw the first study of the device on adults, he realized it could potentially help kids with Down syndrome.

“I went to the folks at Inspire and I became that pesky pediatrician who called many, many times to say I have this population in need,” said Hartnick, who practices at Massachusetts Eye and Ear.

In 2015, Hartnick and physicians at four other institutions around the country began a clinical trial in testing the device in 42 kids with Down syndrome and severe sleep apnea, including Elliot.

Because it was a Phase 1 study, the primary goal was to ensure the implant was safe. Out of 42 children, there were few complications — the most common side effect was tongue or mouth discomfort, which occurred in five children. But the early results on efficacy were also encouraging. Researchers tracked the change in apnea-hypopnea index, or the number of times per hour when someone isn’t receiving a sufficient amount of oxygen while asleep. On average, the device helped patients to have about 50% fewer of these events per hour. For three-quarters of patients, the number of events dropped under the threshold for severe sleep apnea, which is 10 episodes or more per night.

For Dougherty, the change in Elliot’s quality of life was clear. Elliot, who underwent the procedure at age 10, can stay up late at sleepovers and skip daytime naps, which he never could before. He doesn’t get in trouble at school like he used to, can focus better, and has seen his speech abilities improve.

“Once we were able to get the sleep apnea under control, all of the other pieces began to fall together,” Dougherty said. “I just can’t imagine how much better life would have been for Elliot if we could have done this sooner.”

Kishore Vellody, director of the Down Syndrome Center at UPMC Children’s Hospital of Pittsburgh, said that while the study only included a small number of patients, he finds the research promising.

“Hopefully, as they add numbers, we start to see more of an effect that’s sustained even in larger populations,” said Vellody, who wasn’t involved in the research.

The researchers are planning further studies on the device, particularly around its potential to improve speech for a patient with Down syndrome. The teams found that many patients like Elliot developed improved speech capabilities after the implant, perhaps due to the increased use of their tongues at night.

For the device to be used more broadly in children with Down syndrome, it would need to earn FDA approval.

Tim Herbert, the CEO of Inspire, said that the company is working directly with the FDA to determine which avenue for approval will work best. The company is interested in a broad pediatric approval, but has not said if it plans to first seek approval only for children with Down syndrome. Hartnick said that if the company set their sights on approval for the broader, and perhaps more profitable general pediatric population, rather than solely on kids with Down syndrome, it will require more research — and thus, more time to wait for families.

“This may seem like a small market to you, but it’s a pretty important market and it’s representational, and if we have to walk before we run — that’s really the dialogue that we are a part of,” he said.

The Dougherty family is grateful for the change the device has brought into Elliot’s life. He turns it on by himself every night, and off in the mornings. When asked what he remembers about getting the implant in Boston, Elliot said, “it was awesome.”

Correction: A previous version of this story misstated Christopher Hartnick’s affiliation. It is Massachusetts Eye and Ear.