This device improves the symptoms of sleep apnea in children with Down syndrome

For years Farrell Blum struggled with sleep apnea. Like other adolescents with Down syndrome, his breathing stopped and started while he slept, the main symptom of the potentially dangerous condition, but he didn’t snore and didn’t seem sleepy during the day. Although Blum had a continuous positive airway pressure (CPAP) machine, a common treatment for sleep apnea, he didn’t always like it.

Then his doctor called for a clinical trial for a device that works a bit like a tongue pacemaker. (Pacemakers are usually implanted in the heart to control the heart rate.) Surgery would be required, but it meant that Blum no longer had to struggle with the clunky and uncomfortable mask of his CPAP machine. His parents enrolled Blum in the study when he was 15 and were surprised by how the device transformed him.

“I saw a big improvement,” Long Island mom Janine Farrell-Blum, 58, told TODAY. “He was more alert in class. He was more cooperative. I can’t even begin to tell you – he was just a different person.”

Blum, now 21, was the second adolescent with Down syndrome to participate in a phase one clinical trial of the implantable device, a hypoglossal nerve stimulator, which is FDA-approved for adults. It works by signaling the nerve that controls the tongue to move it forward, opening the airway when the patient breathes.

While researchers originally studied the hypoglossal nerve stimulator to make sure it was safe and effective in children, they found that it seemed to offer other benefits as well. The article was published in JAMA Otolaryngology – Head & Neck Surgery in April.

“Parents would come back to us and say, ‘Not only does this make their sleep better, but they do better in school, and they talk better, and they’re not as angry, aggressive and irritable’” Dr. Christopher Hartnick, director of the division of pediatric otolaryngology and Pediatric Airway, Voice and Swallowing Center at Massachusetts Eye and Ear, told TODAY.

Down syndrome and sleep apnea

As director of Massachusetts General Hospital’s Down Syndrome Program, Dr. Brian Skotko about 600 patients each year, who all too often experience obstructive sleep apnea. The first step is often the removal of tonsils and adenoids, as enlarged tonsils and adenoids can cause sleep apnea in children. But sometimes it doesn’t work in Down syndrome patients.

People with Down syndrome develop sleep apnea for many of the same reasons as everyone else, but people with Down syndrome sometimes have smaller airways or larger tongues that can block their airways. Removing enlarged tonsils and adenoids helps a lot, but not all.

“We have people with Down syndrome who are stuck with obstructive sleep apnea, and that can cause a lot of complications,” Skotko told TODAY. “(With) the treatment we’ve had…you have to wear a mask at night. And it’s hard enough for the neurotypical population to put up with masks at night, but for people with Down syndrome — who have sensitivity issues, who have a hard time understanding it — it’s just a real challenge.”

After a study on the hypoglossal nerve stimulator branded Inspire was published, Skotko wondered if it might work in his patients as well.

“It worked for the neurotypical (adult) population, and we said, ‘Oh, we have another population that really needs this therapy,'” he recalls. “In collaboration with Dr. Hartnick, we were able to start the study for people with Down syndrome.”

“Obstructive sleep apnea in any of us, if left untreated, can lead to brain drain and some problems in cognition,” Skotko added. “For people with Down syndrome who start with an intellectual disability, we don’t want them to lose an extra 10 IQ points to obstructive sleep apnea.”

The clinical trial recruited 42 patients ages 10 to 22 to have the hypoglossal nerve stimulator implanted. Hartnick had to modify the procedure slightly so that it worked better for younger patients.

During surgery, Hartnick inserts a processor under the skin above the right nipple so that it can detect when the patient is trying to breathe. The processor sends a signal through a wire that runs under the skin at the jawline and is connected to the hypoglossal nerve, which can move the tongue back and forth or sideways. It is important to make sure the device is connected to the right branch of the nerve to move the tongue forward rather than back and forth.

A visualization of a hypoglossal nerve simulator implanted under the skin.
A visualization of a hypoglossal nerve simulator implanted under the skin.Inspire Medical Systems, Inc

“As the child breathes, the tongue moves forward so that the airways are clear,” explains Hartnick.

The doctors continued to monitor the patients to make sure no adjustments were needed as they got older.

“As the kids grew from immature to full-grown, it remained stable,” Hartnick said. “We felt good about that.”

They also measured how much the participants’ sleep apnea improved using a metric called the apnea hypopnea index (AHI), Skotko said.

“Anything we could do to reduce that number is a step in the right direction,” he explained. “Those who took part in the study implanting a hypoglossal nerve stimulator showed that their AHI was reduced, and for some people it was markedly reduced.”

‘Changed his life’

When Blum’s mother, Janine Farrell-Blum, learned that the device would move Blum’s tongue when he slept, she wondered if it would help Blum’s ability to communicate.

“That little thought bubble over my head was like, ‘Oh if we start stimulating his tongue for eight or nine hours a night, it’ll just make his tongue muscles stronger, and his speech will improve,'” she said. said. “His speaking skills are better.”

After about six months of using the device, Farrell-Blum noticed that her son looked like a different person.

Farrell Blum has been thriving since getting a hypoglossal nerve stimulator to treat his sleep apnea.
Farrell Blum has been thriving since getting a hypoglossal nerve stimulator to treat his sleep apnea.Thanks to family Blum

“He’s sleeping better and his whole body is better,” she said. “Our life is so much richer because he feels better.” Blum, who takes boxing lessons, swims, rides horses and surfs, also realizes how important the device is to his health. Shortly after his surgery, when he saw his mother packing for their upcoming trip, he made sure to add what he thought was an essential travel item, the massager remote control.

“It was that important to him right away. He knew it changed his life,” she said. “We are in year seven. He uses it every night. I can’t think of a night that he hasn’t used it.”

It is not yet clear when the device will be available to children in the general public. Research is ongoing and all parents interested in enrolling their child with Down syndrome in the clinical trial can find contact information for research sites at ClinicalTrials.gov.

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