Untreated sleep apnea in individuals with Down syndrome can lead to unwanted behaviors and decreased language, memory, and emotional control.

If the individual is a child, they might:

• Have tantrums
• Be less willing to use words to communicate
• Have trouble learning new skills

An adult may:

• Refuse to participate in normal activities
• Be less willing to engage in conversations
• Forget parts of their usual routine
• Have difficulty following directions

Sleep apnea also increases the risk of:

• Heart disease
• Arrhythmias (irregular heart rate)
• Congestive heart failure
• Pulmonary hypertension (high blood pressure in the lungs)
• Stroke

These potential impacts of untreated OSA highlight the importance of early identification and treatment (Shott et al., 2006).

Symptoms of sleep abnormalities include:

• restless sleep
• snoring
• gasping noises
• heavy breathing
• apneic pauses (a pause in breathing lasting at least 10 seconds)
• frequent waking during the night
• trouble getting out of bed
• daytime sleepiness
• excessive napping
• Unusual sleep positions (such as sitting upright or keeping the head and neck tilted backward)

Sleep apnea often goes undetected. Caregivers should alert a doctor of any change in sleep, mood, behavior, or ability to concentrate.

Tonsil and Adenoid Removal

There are treatment options available for OSA. Some people with Down syndrome have relatively smaller jaw bones, cheekbones, and eye sockets and narrow nasal passages. This can lead to airway obstruction when tonsils and adenoids are even slightly enlarged. Because of this, the most commonly used treatment is adenotonsillectomy (surgical removal of tonsils and adenoids). A sleep study should be repeated after this surgery to determine whether the sleep apnea was resolved.

Unfortunately, adenotonsillectomy does not always cure sleep apnea. Some individuals with Down syndrome experience OSA that continues even after surgery to remove tonsils and adenoids, known as “residual” OSA. MRI studies have shown a combination of relatively large tongues, glossoptosis (backwards movement of the tongue during sleep), and tonsil and adenoid regrowth are the most common causes of residual obstruction. To determine the site(s) of residual airway obstruction, your doctor might perform a nasopharyngoscopy and laryngoscopy examination. A flexible lighted camera is inserted through the nose or mouth to examine the area behind the nose, the back of the tongue, and the throat. This can rule out regrowth of tonsils or adenoids and glossoptosis.

CPAP/BiPAP Use

Continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) therapy is often used as a secondary treatment after surgery.

CPAP: A machine that delivers a steady stream of oxygenated air through a flexible tube to a mask sealed around a person’s nose and mouth. The airstream pushes against any obstructions, maintaining an open airway for breathing. CPAP machines are primarily used to treat OSA.

BiPAP: A machine that delivers a stream of oxygenated air at two pressures: an inhale pressure and an exhale pressure. It is used for individuals who cannot tolerate CPAP machines and to treat central sleep apnea.

CPAP and BiPAP machines are typically life-long treatments. Although many individuals with Down syndrome adjust to using the CPAP during sleep, some are unable to tolerate wearing the facial mask and require alternative treatments.

Hypoglossal Nerve Stimulation

Hypoglossal nerve stimulation (an implanted medical device that electrically stimulates tongue movement with breathing) is a relatively new treatment researchers are hopeful about. A recent review of five studies using a hypoglossal nerve stimulating device found it significantly decreased the number of times the individual stopped breathing during sleep (Lee et al., 2021).

Other treatments:

• A high-flow nasal cannula used at night (oxygen provided through the nose in a tube)
• Anti-inflammatory medications
• Myofunctional therapy (exercise-based therapy for the muscles of the mouth, tongue, and face)
• Dental devices worn at night that push the lower jaw forward
• For individuals who are medically overweight, getting to a healthy weight can improve symptoms

Unfortunately, more research is needed on these treatment options for individuals with Down syndrome. All options should be discussed with a doctor to determine which is best for you or your loved one.

NDSS thanks Dr. Sally R. Shott MD, Professor Department of Otolaryngology Head and Neck Surgery, University of Cincinnati, Cincinnati Children’s Hospital Medical Center for assisting with this article. 

Citations

“CPAP vs BIPAP Machines for Sleep Apnea.” American Sleep Association, https://www.sleepassociation.org/sleep-apnea/cpap-vs-bipap/.  

Friedman, N. R., Ruiz, A. G., Gao, D., & Ingram, D. G. (2018). Accuracy of Parental Perception of Nighttime Breathing in Children with Down Syndrome. Otolaryngology–head and neck surgery: official journal of American Academy of Otolaryngology-Head and Neck Surgery, 158(2), 364–367. https://doi.org/10.1177/0194599817726286 

Gastelum, E., Cummins, M., Singh, A., Montoya, M., Urbano, G. L., & Tablizo, M. A. (2021). Treatment Considerations for Obstructive Sleep Apnea in Pediatric Down Syndrome. Children, 8(11), 1074. https://doi.org/10.3390/children8111074 

Kim, Y., Lee, Y. J., Park, J. S., Cho, Y. J., Yoon, H. I., Lee, J. H., Lee, C. T., & Kim, S. J. (2017). Associations between obstructive sleep apnea severity and endoscopically proven gastroesophageal reflux disease. Sleep and Breathing, 22(1), 85–90. https://doi.org/10.1007/s11325-017-1533-2 

Lee PB, Chung MT, Johnson J, et al. Tongue-Based Procedures in Treating Refractory Obstructive Sleep Apnea in Down Syndrome Patients: A Systematic Review and Meta-Analysis. FACE. 2021;2(1):65-70. doi:10.1177/2732501621992447 

 Shott, S. R., Amin, R., Chini, B., Heubi, C., Hotze, S., & Akers, R. (2006). Obstructive sleep apnea: Should all children with Down syndrome be tested? Archives of otolaryngology–head & neck surgery, 132(4), 432–436. https://doi.org/10.1001/archotol.132.4.432