Down Syndrome and Sleep Apnea

A person in bed with arm hanging off and a plant next to them

Sleep apnea impacts around one billion adults worldwide, not including kids or the elderly. It is extremely common in people with Down syndrome. The Eye & Ear Foundation’s July 10th webinar, “Down Syndrome and Sleep Apnea: A New Treatment on the Horizon” focused on the impact of obstructive sleep apnea on patients with Down syndrome and provided an update on current treatment options.

Expert Presenters

Ryan Soose, MD, Director of the UPMC Sleep Division and Associate Professor in the Department of Otolaryngology at the University of Pittsburgh School of Medicine, specializes in the medical and surgical treatment of snoring and obstructive sleep apnea (OSA). He praised his co-presenter, Rachel Whelan, MD, an Assistant Professor of Otolaryngology at UPMC Children’s Hospital of Pittsburgh and UPMC Mercy, who specializes in sleep medicine.

Dr. Whelan has been with the Department since 2021 and has unique training. Dr. Soose said there is perhaps just a handful of people in the whole country and the world who have this kind of training. In addition to medical school and otolaryngology residency training, Dr. Whelan did two fellowships – one in pediatric otolaryngology and one in sleep medicine. She splits her time between Children’s Hospital of Pittsburgh and UPMC Mercy, where she covers adult and pediatric care. She has almost 20 publications already. She is leading a clinical trial site at Children’s looking at new treatment for sleep apnea in the population with Down syndrome.

Sleep Apnea is Common

In the U.S., in the middle age population of about 160 million, at least a third is estimated to have mild sleep apnea, Dr. Soose said. One of seven has a moderate-to-severe case, which potentially impacts blood pressure, the heart, brain, and other health aspects. Even President Biden is affected by this condition.

“We have an expanding toolbox of medical and surgical treatments at Pitt that we are constantly trying to refine and improve,” Dr. Soose said. Medical devices like CPAP machines, custom dental mouthpieces, and weight loss programs are some of the potential treatments. Surgical treatments of the nose, throat, and jaw structure are performed. “Now what we try to do is personalize a combination treatment that matches each person’s needs, wants, and anatomy,” Dr. Soose added.

New treatments are on the horizon. Researchers are working on a way to shrink fat pads in the tongue and neck non-surgically. Medications for sleep apnea are in Phase 3 clinical trials right now. The Eye & Ear Foundation and Swallowing Center will hopefully partner to look at exercises of the throat.

A newer treatment is the implantable hypglossal nerve stimulation (HNS) system, which Dr. Soose helped pioneer at Pitt. It consists of a generator placed in the skin pocket in the chest similar to a pacemaker on the other side. It has two wires or “leads.” One lead sits against the rib cage and acts as a breathing sensor, timing the pulsations of the patient’s breathing cycle during sleep. The other goes through the tissue of the neck and ends with an electrode on the nerve that sticks out the tongue. The patient uses a remote control each night when they go to bed to activate the system, make adjustments, and record data. The key concept is to stimulate the right nerve branches. When it works appropriately, the tongue stiffens and has a forward motion during sleep.

HNS Treatment

HNS treatment has been in existence for over a decade. In 2014, Pitt was the lead academic site for the multicenter STAR Trial, with study results published in the NEJM. That year also saw FDA approval and the first U.S. implants right here in Pittsburgh (at UPMC Mercy). From 2015-2022, clinical trial and registry data were compiled, the first pediatric implant occurred in Boston, the 2-incision approach was introduced, and MRI compatibility was reached. As of this year, there are about 700 implant centers, about 50,000 implanted patients, 5000 enrolled in the registry, and treatment has expanded to Asia.

OSA and Down Syndrome

Obstructive sleep apnea is extremely common in Down syndrome. Ninety percent of a group with Down syndrome was found to have at least a mild version of OSA versus 2-5 percent of the general pediatric population. Forty-four percent of the Down syndrome (DS) group had severe OSA.

There are several challenges when it comes to OSA and DS:

Patient Factors:

  • Neurocognitive impact (already often struggling with issues related to cognition, attention, memory, and at risk for early-onset dementia)
  • Cardiac impact (2/3 of DS have congenital heart disease; untreated sleep apnea puts more strain on the heart and worsens cardiovascular disease)

Treatment Factors:

  • Poor CPAP results – most are non-accepting or intolerant
  • Limited surgical results – 80% still have OSA after tonsillectomy

Defining OSA

What is obstructive sleep apnea? Dr. Whelan said it is a partial or complete obstruction of the tissues that make up the upper airway. “We think about the upper airway being the tissue from the nose to the level of the voice box,” she explained. With this level of obstruction, with every breath, it is impossible to get a good night’s sleep.

Bad sleep apnea puts patients at increased risk for things like cardiovascular disease and stroke. There is definitely a big link between cognitive issues and Alzheimer’s concerns as well, Dr. Whelan said.

These are already problems that are magnified in people with DS, who are more vulnerable populations at baseline. When untreated sleep apnea is added to the mix, it magnifies the scope of problems for these patients.

OSA Treatment

It is almost impossible to have a conversation about OSA treatment without talking about CPAP or BPAP machines, Dr. Whelan said. They provide pressure to the right areas to open the airway so air can be exchanged. The CPAP machine is the gold standard of treatment because it is the only thing that really props open the airway. Unfortunately, sometimes patients just can not get it to be a good fit. For 50% of patients with DS who cannot tolerate this therapy, other options must be discussed.

CPAP Alternatives for OSA

Tonsillectomy and adenoidectomy are procedures that may be done if the tonsils and/or adenoids are occluding the entirety or majority of the back of the throat. Usually if they are enlarged, addressing this is the first surgical step. In patients with DS, even once this tissue is removed, 50-70 percent (some studies cite up to 80%) of patients still have some degree of sleep apnea.

A lingual tonsillectomy is another option. There is a set of tonsils at the very back of the tongue that pull the weight of the tongue back and contributes to sleep apnea. Many times, the next surgical step in patients with DS is to shave down this tissue as well.

Data suggests that shrinking down turbinates, or tissue in the front of the nose, can improve quality of sleep and breathing, particularly in patients are very allergic or have chronic nasal congestion.

Sometimes the muscles of the throat have a propensity to fall back and contribute to sleep apnea, so expanding the upper and lower jaws create more space and pull the structures forward.

A somewhat non-surgical option that is underutilized is rapid maxillary expansion. This is creating more space in the roof of the mouth, so the tongue has somewhere to sit, making it less likely to fall back and block the airway.

Potential surgical targets are obviously dependent on the individual patient’s anatomy. It used to be that following and exhausting this algorithm of alternative options meant there was nothing to be done for DS patients. But seeing the tremendous results of Inspire Therapy in the adult population had physicians wondering how translatable it was to the DS population.

Indications for Inspire Therapy in DS

  • 13 years of age or older
  • Moderate to severe OSA
  • Unable to use CPAP
  • BMI <35 (95th percentile in children)
  • Appropriate anatomic pattern of collapse – need to make sure that it is really the back of the tongue that the anatomy is moving forward and that pulling everything forward will be effective

Inspire: Efficacy in Adults with DS

Endpoints include sleep study results, daytime function, and sleep quality. Results are mixed, with variability, but overall, there is improvement.

Inspire: First 20 DS Adolescents

  • Significant improvement in OSA measures (median 24-> 3 events/hour)
  • Significant improvements in speech, cognition, school performance – tongue strengthening?
  • Drawbacks:
    • Battery life estimated 10-12 years – this means signing a child up for subsequent procedures
    • Neck/chest growth
    • MRI compatibility

All this led to exciting news: In March 2023, Inspire Medical Systems, Inc announced FDA approval for pediatric patients with DS.

Research is Ongoing

Current studies in this area include:

  • Neurocognitive outcomes following HGNS implant in pediatric DS patients
  • Registry examining 5-year outcomes following HGNS in patients aged 18-21 years

These studies are actively recruiting and enrolling.