Do you know someone who has Down syndrome and has snoring or obstructive sleep apnea (OSA)? Down syndrome patients are predisposed to having trouble breathing during sleep.  

We know that it can be challenging to find information about snoring and obstructive sleep apnea in Down syndrome patients and we would like to help provide educational material.

This blogpost was written by a sleep medicine physician.

As part of the background for this blogpost, we searched the scientific literature for information and the internet for frequently asked questions and answered them.

The goal of the blogpost is to educate you on what snoring and obstructive sleep apnea are and what their relationship is with Down syndrome.

This blogpost provides illustrations that show the anatomy behind snoring and OSA and how they pertain to patients with Down syndrome.

Remember, that the information provided herein is for educational purposes only, and if you have seen a sleep medicine physician or an ear, nose and throat, then they are the ones who can provide the best information for you as he or she is your healthcare provider.

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Summary for Down syndrome, snoring and obstructive sleep apnea:

Many Down syndrome patients snore and also have obstructive sleep apnea.

There are several physical characteristics that predispose Down syndrome children and adults to having snoring and obstructive sleep apnea.

The characteristics include having a flattened nose, having a flattened face in general, having a large tongue for the size of the lower jaw.

Additionally many Down syndrome children have either an overweight or obese body habitus, which additionally makes it more difficult to treat both snoring and obstructive sleep apnea.

In this information guide, we provide information regarding treatment options for children and adults who have Down syndrome.

Background information about Down syndrome and snoring and obstructive sleep apnea:

What is Down syndrome?

Down syndrome (also known as Trisomy 21) is when there is an extra chromosome 21.

Normally, there are 23 pairs of chromosomes. By having an extra chromosome 21, patients with Down syndrome are predisposed to some health problems.

A common health problem in patients with Down syndrome is sleep disordered breathing, which includes snoring and obstructive sleep apnea.

Why do Down syndrome patient have snoring and obstructive sleep apnea?

Obstructive sleep apnea and snoring are due to partial or complete upper airway obstruction during sleep.

Upper airway obstruction at the level of the soft palate and the tongue. Note that since the airflow is blocked, the oxygen cannot get into the airway and carbon dioxide cannot leave. The light blue arrow points to the obstructed palate and the obstructed tongue. CamachoMD.com
Upper airway obstruction at the level of the soft palate and the tongue. Note that since the airflow is blocked, the oxygen cannot get into the airway and carbon dioxide cannot leave. The light blue arrow points to the obstructed palate and the obstructed tongue.

Snoring is due to the vibration of the soft tissues of the upper airway, which in most circumstances is caused by the soft palate and the uvula.

Because of the flattened facial structures in Down syndrome patients, the upper and lower jaw are not at the normal size and are positioned such that they narrow the airway size and that can make breathing more difficult.

The flattened facial features, smaller palate, and proportionally large tongue predisposes Down syndrome patients and to having both snoring and obstructive sleep apnea.

For example, if a Down syndrome patient has a tongue is at the normal size, the tongue will be too large for the size of the upper airway because of the flattened facial structures.

This is a Down syndrome child (Trisomy 21). Note that the child is mouth breathing. Common facial features in Down syndrome include the flattened face, slanted eyes, epicanthic fold of the eyes, spots on the iris, tongue that protrudes, smaller ears, and a shot neck. CamachoMD.com
This is a Down syndrome child (Trisomy 21). Note that the child is mouth breathing. Common facial features in Down syndrome include the flattened face, slanted eyes, epicanthic fold of the eyes, spots on the iris, tongue that protrudes, smaller ears, and a short neck.

What structures in the upper airway cause snoring and obstructive sleep apnea?

In general, the soft palate and the uvula are responsible for snoring.

Structures responsible for obstructive sleep apnea include the soft palate and uvula, the tonsils, the adenoids (if they are enlarged – especially in children), the tongue and structures of the larynx (epiglottis and supraglottis).

Down syndrome child who is mouth breathing and snoring. The blue arrows showing air coming into the mouth. CamachoMD.com
Down syndrome child who is mouth breathing and snoring. The blue arrows showing air coming into the mouth.

How common are snoring and obstructive sleep apnea in Down syndrome patients?

A meta-analysis summarizing the literature found that 69-76% of children with Down syndrome have obstructive sleep apnea.1

The American Academy of Pediatrics has provided a recommendation that all children with Down syndrome be referred for a sleep study by 4 years of age.2

But what if you think your child with Down syndrome does not have any breathing problems during sleep, should they still get a sleep study?

Yes, they should get a sleep study.

Research has shown that parents of Down syndrome children are not able to accurately predict whether or not the child has obstructive sleep apnea based on their nighttime symptoms.3

What is the medical management of obstructive sleep apnea in children and adults?

Medical management of obstructive sleep apnea in children and adults includes the trial of positive airway pressure (PAP or more commonly known as CPAP) therapy.

CPAP therapy can be challenging for Down syndrome patients, as it is for most patients in general, and if the patient is able to adjust to it then it is a great option.

For patients who cannot tolerate CPAP therapy, and other medical management options have been tried and failed, surgery is a potential option.

Down syndrome child wearing a CPAP full facemask. This could be the selection of choice for patients who failed adenoidectomy and tonsillectomy. CamachoMD.com
Down syndrome child wearing a CPAP full facemask. This could be the selection of choice for patients who failed adenoidectomy and tonsillectomy or as a first choice in some patients.

What are the surgical options for treating obstructive sleep apnea in patients with Down syndrome?

In a large percentage of patients with obstructive sleep apnea a tonsillectomy with adenoidectomy (if they are children, or if they are adults with large adenoids) will be the first line option.

If you take all comers, a tonsillectomy with adenoidectomy is approximately 60 to 83% effective in children.4,5

However, tonsillectomy with adenoidectomy is much less effective in overweight and obese children and even less effective in children with Down syndrome.

This is an obese Down syndrome child (Trisomy 21). Note that the child is mouth breathing. Common facial features in Down syndrome include the flattened face, slanted eyes, epicanthic fold of the eyes, spots on the iris, tongue that protrudes, smaller ears, and a shot neck. CamachoMD.com
This is an obese Down syndrome child (Trisomy 21). Note that the child is mouth breathing. Common facial features in Down syndrome include the flattened face, slanted eyes, epicanthic fold of the eyes, spots on the iris, tongue that protrudes, smaller ears, and a shot neck.

A study evaluating the research in the literature found that  Down syndrome patients that were treated with tonsillectomy and adenoidectomy had a drop in the apnea-hypopnea index decreased by only 51%.6

Despite, these numbers, over half (55%) of the surgeries performed for Down syndrome occur between 2-6 years of age.7

The most commonly performed surgery is tonsillectomy with adenoidectomy.7

Enlarge adenoids (the adenoid tissue in the back of the throat is shown in pink). CamachoMD.com
Enlarge adenoids (the adenoid tissue in the back of the throat is shown in pink).
Tonsils grade 4. Extra large tonsils, between 75 to 100% of the airway is blocked (from the side toward the middle of the throat). CamachoMD.com
Tonsils grade 4. Extra large tonsils, between 75 to 100% of the airway is blocked (from the side toward the middle of the throat).

Are Down syndrome patients at an increased risk of atlantoaxial instability (neck instability) during head and neck surgeries such as tonsillectomies?

Yes, Down syndrome patient are at an increased risk of having neck damage during tonsillectomies.

It is estimated that 10-30% of Down syndrome patients have atlantoaxial instability.8

How common is craniocervical instability in Down syndrome patients?

Craniocervical instability is estimated to occur in 8-63% of patients who have Down syndrome.8

What causes atlantoaxial instability in Down syndrome patients?

The two main causes for atlantoaxial instability in Down syndrome include: 1) osseous abnormalities such as abnormal ossification of 1st cervical vertebrae and odontoideum, and 2) the occipital condyles are abnormally flattened.9

Does a child have to have symptoms in order to need to be referred for an x-ray prior to surgery?

No, the majority of atlantoaxial instability is asymptomatic and only 1-2% actually have symptoms, therefore, all Down syndrome children should be screened prior to surgery.8

The way to check for atlantoaxial instability is to do x-rays before surgery to include x-rays that are flexion and extension lateral cervical spine x-rays.8

If a Down syndrome child is found to have atlantoaxial instability on an x-ray, does that mean they can’t have a tonsillectomy?

No, atlantoaxial instability in a Down syndrome patient doesn’t necessarily mean that the patient cannot have surgery, it just means that extra care needs to be taken during the surgery to make sure that the neck is kept in a neutral position and that it does not get extended.

The risks, benefits and alternatives need to be discussed with your ENT surgeon.

After a tonsillectomy and adenoidectomy, is it common for a child with Down syndrome to have large tongue tonsils?

Yes it is. A study evaluating whether or not there are large tongue tonsils after a tonsillectomy and adenoidectomy found that they were markedly enlarged in 35% of Down syndrome patients and only were markedly enlarged in 3% of children without Down syndrome.10

Patient selection is very important, and may involve a pre-surgical sleep endoscopy to evaluate the extent of blockage that is due to the tongue.

Will reducing the size of the tongue help patients with Down syndrome?

Reducing the base of tongue can help significantly in some Down syndrome patients who have failed a tonsillectomy with adenoidectomy.

A common way to help estimate the amount of blockage that occurs at the back part of the tongue is to perform drug-induced sleep endoscopy.

Sleep endoscopy is when a patient is taken to the operating room to evaluate the upper airway during sleep, and the blockages are noted at the level of the soft palate, the tonsils if they are present, the back of the tongue, the larynx (epiglottis and the supraglottis).

Is there an increased risk of having obstructive sleep apnea in adult Down syndrome patients?

Yes, approximately 35-42% of adults with Down syndrome have obstructive sleep apnea.11

References:

1.            Lee CF, Lee CH, Hsueh WY, Lin MT, Kang KT. Prevalence of Obstructive Sleep Apnea in Children With Down Syndrome: A Meta-Analysis. J Clin Sleep Med. 2018;14(5):867-875.

2.            Bull MJ. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393-406.

3.            Friedman NR, Ruiz AG, Gao D, Ingram DG. Accuracy of Parental Perception of Nighttime Breathing in Children with Down Syndrome. Otolaryngol Head Neck Surg. 2018;158(2):364-367.

4.            Friedman M, Wilson M, Lin HC, Chang HW. Updated systematic review of tonsillectomy and adenoidectomy for treatment of pediatric obstructive sleep apnea/hypopnea syndrome. Otolaryngol Head Neck Surg. 2009;140(6):800-808.

5.            Brietzke SE, Gallagher D. The effectiveness of tonsillectomy and adenoidectomy in the treatment of pediatric obstructive sleep apnea/hypopnea syndrome: a meta-analysis. Otolaryngol Head Neck Surg. 2006;134(6):979-984.

6.            Nation J, Brigger M. The Efficacy of Adenotonsillectomy for Obstructive Sleep Apnea in Children with Down Syndrome: A Systematic Review. Otolaryngol Head Neck Surg. 2017;157(3):401-408.

7.            Ong AA, Atwood CM, Nguyen SA, et al. Down syndrome and pediatric obstructive sleep apnea surgery: A national cohort. Laryngoscope. 2018;128(8):1963-1969.

8.            Hankinson TC, Anderson RC. Craniovertebral junction abnormalities in Down syndrome. Neurosurgery. 2010;66(3 Suppl):32-38.

9.            Margetis K, Benzel EC. Craniovertebral junction instability in adult patients with Down syndrome. World Neurosurg. 2015;83(3):334-336.

10.          Fricke BL, Donnelly LF, Shott SR, et al. Comparison of lingual tonsil size as depicted on MR imaging between children with obstructive sleep apnea despite previous tonsillectomy and adenoidectomy and normal controls. Pediatr Radiol. 2006;36(6):518-523.

11.          Hill EA. Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome. Breathe (Sheff). 2016;12(4):e91-e96.