Compromised Airways in Individuals with Down Syndrome
Dr. Jay Wohlgelernter, MD
Ethan Gipsman
Children with Down syndrome often struggle with various ENT issues due to the unique aspects of their head and neck anatomy or structure. Down syndrome patients commonly have macroglossia (enlarged tongue), micrognathia (undersized lower jaw), and a narrow nasopharynx and oropharynx (areas of the throat from behind the nose down to above the voicebox) as well as hypoplasia (underdevelopment) of the midface. Additionally, such children tend to have enlarged tonsils and adenoids which can further impinge on their airways. Down syndrome patients also have generalized decreased muscle tone which reduces their ability to maintain normal, open airways at the level of the pharynx or throat. Finally, subglottic stenosis, or narrowing of the windpipe just below the level of the vocal cords, is much more common among children with Down syndrome compared with the general population. These anatomic features make the Down syndrome patient particularly prone to obstructive sleep apnea, chronic nose and sinus infections, increased surgical complications, and hearing problems (for example recurrent ear infections and chronic hearing loss). Below we will focus on airway compromise, including what to look for and how to approach it.
The most common airway pathology in Down syndrome is obstructive sleep apnea (OSA). Sleep disordered breathing includes a spectrum of severity ranging from simple snoring at the most mild, to intermittently stopping to breathe while sleeping, called apneas. In severe cases this is associated with a significant drop in blood oxygen levels. OSA can lead to many health and developmental problems such as daytime sleepiness, failure to thrive, attention deficit and hyperactivity, learning and behavioral issues, emotional lability, and even heart and lung problems such as pulmonary hypertension. While OSA is not uncommon in the general pediatric population, among children with Down syndrome it is extremely common, with some studies showing that nearly 80% of patients with Down syndrome suffer from OSA. The most significant obstructive contributing factor to OSA from the anatomic structure of Down syndrome patients is the narrowed nasopharynx, or the airway passage behind the nose. This narrowed airway combined with decreased muscle tone in the throat leads to collapse of the throat, causing a blockage of the breathing airway during sleep. Apnea manifests as loud, persistent snoring, gasping for air, and pauses in breathing. OSA is definitively diagnosed based on a formal, overnight sleep study. Unfortunately, obstructive sleep apnea is often overlooked in patients with Down syndrome because the symptoms of OSA such as developmental delays, behavioral issues, failure to thrive and pulmonary hypertension, are often prevalent in children with Down syndrome, unrelated to OSA. It is therefore important to actively be on the lookout for sleep apnea with respect to Down syndrome patients. In the UK it has even been recommended to routinely order an annual sleep study for such patients.
There are several ways to treat obstructive sleep apnea. The first consideration in treating sleep apnea is to encourage weight loss in obese patients. Obesity has been shown to increase the effort needed to keep the airway open while sleeping, thus exacerbating OSA. After weight loss, the most common treatment in adults is a continuous positive airway pressure (CPAP) machine, but such treatment is more difficult to administer with children and Down syndrome patients. Saline nasal spray, which can both moisturize the nasal cavity and loosen thick nasal secretions, can sometimes help and make it easier to breathe through the nose. The first line of treatment for children with OSA, including those with Down syndrome, continues to be removal of the tonsils and adenoids, which is the surgical removal of excess tissue in the back of the nose and throat under general anesthesia. Unfortunately, it is not uncommon for symptoms to persist or recur in Down syndrome patients, requiring vigilant monitoring and follow up.
Another common airway complication in Down syndrome patients is subglottic stenosis, which is the narrowing of the area below the vocal cords at the top of the trachea. The narrower the airway, the more difficult it is to breathe. While some patients are born with this condition, it is more commonly acquired from being intubated (having a breathing tube placed in the airway) during general anesthesia. This complication is important for physicians to take into consideration before intubating. When intubating a Down syndrome patient, it is recommended to use an endotracheal tube that is smaller than normal for the patient’s age, in order to avoid damaging the airway. Subglottic stenosis should be suspected in children with inspiratory stridor, or noisy breathing.
After OSA, laryngomalacia is the second most common reason for referral of children with Down syndrome to an ENT specialist. Laryngomalacia is a condition in which the structures above the vocal cords are immature and floppy, causing a semi-obstruction, which can lead to extremely noisy breathing. Down syndrome children are prone to laryngomalacia due to decreased muscle tone and an increased rate of acid reflux, which can further exacerbate the condition. Although the noisy breathing can sound quite alarming to parents, laryngomalacia is generally not dangerous and will usually resolve without treatment within several months. In extreme cases, surgery may be necessary. Close follow-up with the primary care physician and periodic follow-ups with a pediatric ENT are warranted.
Parents, family, and health care providers of patients with Down syndrome should familiarize themselves with the special care and precautions needed when treating Down syndrome patients. This is particularly important when managing something as vital as the airway. In addition, Down syndrome children tend to have higher complication rates after undergoing medical procedures, commonly needing to remain hospitalized for long periods. It is crucial to build a complete picture of every patient’s individual medical history and needs by gathering information from and communicating with all of their previous health care professionals. Regular visits to an ENT specialist can assist in early detection and treatment of potential problems, resulting in improved quality of life and a smoother development in children with Down syndrome.
Originally from Toronto, Canada, Dr. Jay is the head of the Pediatric ENT Department at Laniado Hospital, Netanya, Israel and the nation-wide department head of TEREM Urgent Care Clinics’ ENT department. He lives in Karnei Shomron with his wife, Sharon, and their five sons.
Ethan Gipsman was born and raised in San Diego, CA. After high school he attended Yeshiva in Israel and served in the IDF. He attended Yeshiva university and graduated with honors with a major in biology and minor in Public Health. He currently is a 4th year medical student at the Technion American Medical School in Israel and lives in Rannana with his wife and two children.