Ear, Nose, Throat (ENT) Problems and Down Syndrome

This piece was adapted from Down Syndrome: Common Otolaryngologic Manifestations ,by Dr. Sally Shott.

Ear, nose, and throat (ENT) problems are common in children with Down syndrome. It is important for primary care physicians and caregivers to be aware of these problems, most of which are present throughout an individual's life. The ENT specialist (also called an otolaryngologist) plays an important role in the health of a child with Down syndrome, especially given that ENT problems are closely linked to physical, emotional, and educational development.

What ENT problems are common in children with Down syndrome?

External Ear Canal Stenosis

Stenotic ear canals (narrow ear canals) can occur in 40 to 50 percent of infants with Down syndrome. Narrow ear canals can make the diagnosis of middle ear disease difficult. Cleaning of the ear canals by an ENT specialist is often necessary to ensure proper examination and diagnosis. Ear canals grow with age, and may no longer be of concern after a child is 3 years old. If a child with Down syndrome has stenotic ear canals, he should see an ENT specialist every three months to avoid undiagnosed and untreated ear infections.

Chronic Ear Infections

Children with Down syndrome have an increased incidence of upper repertory tract infections, which predisposes the child to chronic ear infections. The facial anatomy of Down syndrome also predisposes a child to chronic ear disease.

The middle ear is aerated by the eustachian tube, a small tube that goes from the middle ear space to the area behind the nose in the nasopharynx. Upper-airway infections or allergies can cause the eustachian tube to swell up, trapping bacteria and causing ear infections. Low muscle tone (hypotonia) affects the opening and closing of the eustachian tube as well, which can make negative pressure build up in the middle ear space, leading to fluid retention and infection.

Chronic eustachian tube dysfunction lasts longer in children with Down syndrome than in the general population, so the ears and potential infection should be monitored regularly. Some children may need repeated placement of pressure-equalization (PE) tubes to eliminate chronic infections. Monitoring and treatment is critical, because there is a high rate of underdiagnosis and undertreatment of ear infections in children with Down syndrome.

Hearing Loss

Hearing loss can affect educational, language, and emotional development. Even mild hearing loss can affect a child's articulation. Monitoring and treatment of the ears and ear diseases can lessen the incidence of hearing loss. PE tubes can also improve hearing. The American Academy of Pediatrics and the Down Syndrome Medical Interest Group recommend audiologic testing at birth and then every six months up to age 3, or until the child can cooperate for an audiogram that includes ear-specific testing (more frequently if hearing loss is present). After the age of 3, children with Down syndrome should have a hearing test performed annually. Hearing aids should be considered even with mild hearing loss to prevent delays in educational, emotional, and language development.

Airway Obstruction and Sleep Apnea

Airway obstruction is common in children with Down syndrome, and some studies suggest that nearly everyone with Down syndrome has some form of sleep-related obstruction. Loss of sleep due to apnea and even poor-quality sleep due to sleep-disordered breathing can result in sleepiness and disturbances in fine motor skills; sleep loss also affects behavior and learning. Many people with sleep disorders fall asleep during passive activities, such as riding in the car or school bus. Long-term complications of sleep apnea include systemic hypertension, pulmonary hypertension, heart failure, and even death.

Obstructive sleep apnea occurs when the airway is blocked during sleep. Blockage may be a result of a small upper airway, large adenoids and tonsils, obesity, a collapsed airway due to hypotonia of the muscles of the throat, and increased secretions that can be characteristic of persons with Down syndrome. Obstruction can also occur from glossoptosis, a condition in which a relatively large tongue falls back into a smaller airway during sleep.

Caregivers and medical professionals often overlook obstructive sleep apnea, because sleep disturbances typically occur when no one is there to observe them. Moreover, the disturbances may have been present for so long that parents assume they are "normal" for their child.

A comprehensive clinical exam, X-ray, and thorough sleep study should be conducted if sleep apnea is suspected.

Airway obstruction can be treated both medically and surgically, and sometimes both treatments are necessary. Saline spray can keep the airway clear. Other medical options include the use of a Continuous Positive Airway Pressure (CPAP) machine during sleep, which provides some pressure with each breath, keeping the airway open while a person sleeps. Weight loss might also help reduce sleep apnea. Surgically, removal of the tonsils and adenoids (T&A) is the first line of treatment for airway obstruction and sleep apnea in children with Down syndrome. Although removing the tonsils and adenoids usually cures most sleep apnea in children, more recent studies suggest that this is not always the case for individuals with Down syndrome, and further evaluation and treatment may be needed after T&A.

Chronic Rhinitis and Sinusitis

The facial anatomy of Down syndrome along with the developing immunological system predispose the child with Down syndrome to chronic rhinitis (inflammation of the mucus membranes of the nose and mucus discharge) and sinusitis (inflammation of the sinus membranes). Treatment includes the use of saline drops or spray to keep the smaller nasal passages clear, as well as the use of antihistamine medications and steroid nasal sprays. These issues should improve with age and can usually be managed by the primary care physician, rather than the ENT specialist.

In children whose sinusitis fails to resolve with medical management, surgical removal of the adenoids, endoscopic sinus surgery -- or both -- may be necessary.

Originally featured on National Down Syndrome Society (NDSS.org) and reprinted with permission. Copyright © 2012 Meredith Corporation.