The patient experienced a 40% decrease in the apnea-hypopnea index after receiving Inspire, currently approved for children with Down syndrome and OSA over age 13.

Summary: A 4-year-old boy with Down syndrome and severe obstructive sleep apnea showed significant improvement after receiving a hypoglossal nerve stimulation implant, typically used in adults and also approved for adolescents with Down syndrome and sleep apnea over age 13. This device, which stimulates the nerve controlling tongue movement, helps prevent airway blockage during sleep. Previously, the child had limited success with CPAP treatment due to sensory issues. The successful procedure at Mass Eye and Ear marks a potential new treatment avenue for young children with Down syndrome, providing relief from sleep apnea and its cognitive development impacts.

Key Takeaways: 

  • A 4-year-old boy with Down syndrome, Theodore “Theo”1 Scott, had been using CPAP therapy since he was 1 year old. He underwent a successful hypoglossal nerve stimulation procedure to treat his obstructive sleep apnea, which improved his sleep quality and reduced his apnea-hypopnea index by 40%.
  • The hypoglossal nerve stimulation device, initially approved by the FDA in 2014 for adults, sends electrical pulses to the hypoglossal nerve to move the tongue forward, thus preventing airway blockages. This intervention is part of a broader clinical trial organized by Mass General Brigham to evaluate the safety and effectiveness of the procedure in children with Down syndrome.
  • Post-surgery, Scott experienced marked improvements in sleep duration and quality, routinely sleeping over 10 hours a night. The intervention also led to better morning wakefulness, increased attention span, and accelerated language development from one-word to multi-word sentences, showcasing the procedure’s potential impact on neurocognitive functions during crucial developmental years.

While obstructive sleep apnea (OSA) affects about 5% of the general pediatric population, 80% of children with Down syndrome experience OSA. 

Continual OSA results in poor health, including disruptions to cognitive development and functioning, leading physician-researchers from Mass General Brigham to investigate better methods to treat these patients as early as possible to maximize their health outcomes.

In a new case study published in Pediatrics, they report on a 4-year-old boy with Down syndrome and OSA who underwent a procedure to implant a hypoglossal nerve stimulation device and experienced improvements thereafter.   

Currently, adenoidectomies and tonsillectomies are among first-line treatments for pediatric OSA; however they are not always effective for children with Down syndrome because OSA can recur. Additionally, continuous positive airway pressure (CPAP) treatment, which streams compressed air into airways during sleep, is often not tolerated by children with Down syndrome due to sensory sensitivities.

Hypoglossal Nerve Stimulation Device

The hypoglossal nerve stimulation device by Inspire has been an option increasingly used to treat OSA in adults since its 2014 US Food and Drug Administration approval. The device detects when the airway is blocked and sends an electrical pulse to the hypoglossal nerve that controls the tongue, causing it to move forward in the mouth, thereby opening the airway. 

Positive treatment data in adults first led lead study author Christopher Hartnick, MD, director of pediatric otolaryngology at Mass Eye and Ear, to wonder whether the treatment may help his patients with Down syndrome whose lives were impacted by OSA. 

With Mass General Brigham colleague Brian Skotko, MD, MPP, the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital, they organized a clinical trial looking at the safety and effectiveness of the procedure in children between the ages of 10 and 22 with Down syndrome. 

Results of a 42-patient trial showing the benefits and safety of the procedure were published in 2022, leading to FDA approval for the device for adolescents with Down syndrome over the age of 13 nearly a year later.

These results spurred the researchers to examine whether the procedure could benefit younger children who are impacted by the physical and neurocognitive effects of OSA during pivotal developmental years.

Case Study in 4-Year-Old Patient

Hartnick and Skotko identified a patient candidate, 4-year-old Theodore “Theo” Scott of Knoxville, Tenn, who had been on CPAP therapy since he was 1 year old.

After Hartnick and his team had extensive discussions about potential risks with colleagues in other medical specialties and Scott’s parents, Rachel and Andrew Scott, a surgery took place in May 2023. The surgery was successful without complications, and the procedure was modified to allow for Theo’s continued growth.            

After one month, Scott experienced an improvement in sleep, and his obstructive apnea-hypopnea index decreased by 40%. Additional follow-up care will take place for Scott to monitor effects of the procedure on neurocognition and surveillance of the device as he grows.

“The most significant change we have seen is the amount of sleep Theo is now getting, routinely over 10 hours a night versus what we experienced with CPAP where he would pull his mask off up to fifteen times a night. Theo sleeping through the night has also benefitted us as parents since we would need to get up and assist him, and we could each feel the toll poor sleep was taking on our health,” Rachel and Andrew Scott say in a statement. “We have also noticed Theo wakes up more easily in the morning and has a longer attention span than before the surgery, and his language development has accelerated from one-word statements to multiple word sentences. This procedure has absolutely been a game-changing intervention in Theo’s life and in our family’s.”

Investigating Upper Airway Stimulation on Neurocognition

Hartnick and Skotko are currently leading a National Institutes of Health-sponsored four-year trial examining the impact of upper airway stimulation on neurocognition and language in young patients with Down syndrome.

“Children with Down syndrome are disproportionally affected by obstructive sleep apnea and often don’t benefit from traditional interventions, and research shows this impacts their cognitive development and IQ scores,” says Hartnick in a release. “The potential long-term impact on neurocognition was a major driver of our team and the family’s shared decision-making to pursue this treatment, and this case suggests it may be a possible option for some families.

“In our Down Syndrome Program, I see first-hand how frustrated families become when their child with Down syndrome runs out of options to treat significant sleep apnea,” says Skotko in a release. “Theo now opens up a new frontier for research and potential clinical care.”

Photo caption: Christopher Hartnick, MD, director of the division of pediatric otolaryngology at Mass Eye and Ear, displays the hypoglossal nerve stimulation implant in his office in Boston.

Photo credit: Mass Eye and Ear