Sleep apnea causes repeated instances of difficulty breathing during sleep which can lead to decreased oxygen levels and frequent waking. There are two main types of sleep apnea: obstructive sleep apnea (OSA) and central sleep apnea (CSA). OSA is the most common and occurs when the airway is physically blocked. CSA is less common and occurs when the brain does not send the correct signals to the muscles that control breathing.
Children with Down syndrome are much more likely to have sleep apnea than children without Down syndrome. Studies have suggested 53 to 76% of children with Down syndrome have sleep apnea compared to 1-4% of the rest of the population. This may be due to:
- Facial structure differences
- Narrow airway in the nose and throat
- Low muscle tone
- Poor coordination of airway movements
- Obesity
All the above tend to occur at higher rates in individuals with Down syndrome. Children with Down syndrome may have enlarged adenoids, tonsils, and tongues causing obstruction within the already narrowed airway. Some individuals with Down syndrome experience more frequent sinus and upper respiratory infections. This causes congestion which can worsen obstruction. Gastroesophageal reflux (GERD) is also associated with OSA, and the relationship between the two is being researched (Kim et al., 2018).
Potential Impacts
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).
Signs and Symptoms
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.
Sleep Studies
In 2011, the American Academy of Pediatrics recommended all children with Down syndrome have a polysomnography (PSG), or a sleep study, by 4 years of age. The PSG consists of a night of observed sleep during which professionals measure brain waves, the oxygen level in the blood, heart rate, breathing, and eye and leg movements. Children who are unable to have a PSG due to lack of access or inability to tolerate the conditions might have a home sleep study or home pulse oximetry.
Studies have shown parents are often unable to correctly predict whether their child with Down syndrome has a sleep breathing disorder. This is why it is so important to have testing done by professionals (Friedman et al., 2018; Shott et al., 2006). However, it can still be beneficial for caregivers to know what signs and symptoms to watch for.
Treatments
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.
Additional Resources
External Resources
- American Sleep Apnea Association
www.sleepapnea.org
Promotes awareness of sleep apnea, works for continuing improvements in treatments for this serious disease, and advocates for the interests of sleep apnea patients - American Sleep Disorders Association
www.sleepassociation.org
A national organization focused on improving public awareness about sleep disorders and sleep health, promoting sleep medicine research, and providing a portal for communication between patients, physicians/healthcare professionals, corporations, and scientists - National Sleep Foundation
www.sleepfoundation.org
Dedicated to improving sleep health and safety through education, public awareness, and advocacy.
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