Obstructive Sleep Apnea & TS

In the hustle and bustle of life, sleep often takes a backseat to our other priorities. However, the significance of quality sleep is crucial when it comes to overall health and well-being. Not only does sleep rejuvenate the body and mind, it also plays a crucial role in various bodily functions, including immune function, cognitive performance, and emotional regulation (Nunez et al. 2023). 

For individuals living with Turner syndrome, sleep can present unique challenges. In this blog post, we’ll explore the connection between Turner syndrome and obstructive sleep apnea by reviewing the risk factors, symptoms, and management strategies. 

Understanding Obstructive Sleep Apnea (OSA)

The Challenges of Obstructive Sleep Apnea in Turner Syndrome

Some doctors have stated that all Turner patients should be screened for sleep apnea based on the high prevalence of facial, mouth, and throat abnormalities that can occur in Turner syndrome patients (Gjevre, 2013). While more research is needed to confirm how common sleep breathing problems are in Turner syndrome, it is known that Turner syndrome often causes abnormalities in jaw bones and facial structures. Jaws that are set back, shorter jaw bones, and wider angles at the base of the skull have been observed in patients with Turner syndrome (Yu & Vaughn, 2020). Other anatomical features that can also contribute to obstructive sleep apnea in Turner syndrome are an enlarged tongue, high arched palate, and short neck (Orliaguet et al., 2001).

Symptoms of Obstructive Sleep Apnea in Children

Indicators of obstructive sleep apnea in children include:

    • snoring (frequently accompanied by pauses, snorts, or gasps)
    • loud breathing during sleep
    • restless sleep
    • unusual sleeping positions
    • bedwetting (particularly if a child had previously stayed dry at night)
    • daytime sleepiness
    • difficulties with behavior and learning
    • sleepwalking
    • experiencing night terrors

(Gustave, 2021). 

Symptoms of Obstructive Sleep Apnea in Adults

In adults, symptoms of obstructive sleep apneas can be similar to children including:

    • loud snoring
    • periods of breath cessation (often observed by someone else)
    • gasping for air during sleep
    • waking up with a dry mouth
    • morning headaches
    • trouble staying asleep (insomnia)
    • excessive daytime sleepiness (hypersomnia)
    • difficulty focusing when awake
    • irritability

(Mayo Clinic, 2023).

Management Strategies for Obstructive Sleep Apnea in TS

While considering the idea of another diagnosis can feel overwhelming, sleep apnea is a treatable medical condition. Treatment options may include:

Continuous Positive Airway Pressure (CPAP)

CPAP therapy is the most well-known treatment for obstructive sleep apnea. It involves wearing a mask over the nose and/or mouth during sleep, which delivers a continuous flow of air to keep the airway open (Mayo Clinic, 2023). Finding the right mask fit and air pressure can take some trial and error – it is important to be patient and persistent for the hope of quality sleep. 

Image by health.com

Oral Appliance Therapy

Oral appliances are available from the dentist office. They are made to open up the throat by moving the jaw to a forward position to maintain an open airway during sleep (Mayo Clinic, 2023).

Image by Dental Innovations of Virginia

Surgery

Usually a last resort after other treatment options have failed.

However, the jaw structure of some patients might indicate surgery as a primary option (Mayo Clinic, 2023).

There are various types of surgical approaches for Obstructive Sleep Apnea that are dependent on the cause and the patient’s anatomy. 

Conclusion

Identifying and monitoring for sleep apnea is essential, particularly for those with TS.

If you or a loved one with Turner syndrome experience symptoms of obstructive sleep apnea, please seek evaluation and treatment. Talk to your Primary Care Provider and request a referral to see a sleep specialist.

Don’t let sleep take a backseat in your life.

References:

Gjevre, John, et al. “Sleep-disordered breathing in Turner’s syndrome.” Chest, vol. 144, no. 4, Oct. 2013, https://doi.org/10.1378/chest.1705340

Gustave, J. E. (Ed.). (2021a, November). Obstructive sleep apnea (for parents) – Nemours kidshealth. KidsHealth. https://kidshealth.org/en/parents/apnea.html

Mayo Clinc. (2023a, April 6). Sleep apnea. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/sleep-apnea/symptoms-causes/syc-20377631 

Nunez, Kirsten, and Karen Lamoreux. “Why Do We Sleep?” Medically reviewed by Raj Dasgupta, Healthline, Healthline Media, 20 June 2023, www.healthline.com/health/why-do-we-sleep

Orliaguet, O., Pépin, J. L., Bettega, G., Ferretti, G., Mignotte, H. N., & Lévy, P. (2001). Sleep apnea and Turner’s syndrome. European Respiratory Journal, 17(1), 153 155. https://doi.org/10.1183/09031936.01.17101530

Pham TT, Davis SM, Tong S, Campa KA, Friedman NR, Gitomer SA. High Prevalence of Obstructive Sleep-Disordered Breathing in Pediatric Patients With Turner Syndrome. Otolaryngol Head Neck Surg. 2023 Nov 8. doi: 10.1002/ohn.576. Epub ahead of print. PMID: 37937707.

Y A Yu, B V Vaughn, 0897 Sleep Disordered Breathing In Pediatric Patients With Turner Syndrome, Sleep, Volume 43, Issue Supplement_1, April 2020, Pages A341–A342, https://doi.org/10.1093/sleep/zsaa056.893 

Written by Victoria Brown, volunteer blog writer. Edited and Designed by Riya Ajmera, TSF Blog Coordinator. 

© Turner Syndrome Foundation, 2024

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