A general review of the otolaryngologic manifestations of Down Syndrome

ObjectiveDown Syndrome (DS) is the most common chromosome abnormality in liveborn children. Otolaryngologists frequently encounter these patients in their practice; in one survey, 50% of DS patients had been seen by Otolaryngology at least once. As such, it is essential that the practicing Otolaryngologist is aware of the otologic, rhinologic, and laryngologic manifestations of this complex disease and comfortable in the management and treatment of these unique patients. Our goal was to provide this information in a concise and definitive document.MethodsA comprehensive literature review using PubMed was completed. The terms “Otolaryngology”, “Head and neck”, “Ear, nose, throat”, “Down Syndrome”, and “Trisomy 21” were searched in various combinations. Applicable articles that discussed the Otolaryngologic manifestations of Down Syndrome were included.ResultsIn total, fifty articles were included for review. The Down Syndrome child tends to have smaller external ear canals, have higher rates of chronic ear disease, and may present with conductive, sensorineural, or mixed hearing loss. As such, DS patients should receive behaviouralaudiological testing every 6 monthsand annually after the age of three in addition to closer follow-up by an Otolaryngologist if tympanic membranes cannot be visualized or if the external auditory canals are significantly stenosed. Management should involve close follow-up and a low threshold for PE tube placement to reduce the risks for speech and language delay. Chronic rhinitis in the Down Syndrome patient is common. Retrognathia, hypotonia, and macroglossia can all cause obstructive sleep apnea (OSA) in this population and therefore each DS patient should get an overnight polysomnograph. Subglottic stenosis, vocal cord paralysis and laryngomalacia are not infrequently seen in the Down Syndrome patient. To reduce acquired subglottic stenosis, endotracheal tubes that are at least two sizes smaller than what is appropriate for the patient's age should be used.ConclusionDown Syndrome is common and there are many Otolaryngologic manifestations. We recommend that this patient population visit an Otolaryngologist on a regular basis and that the practicing Otolaryngologist is comfortable with the management and treatment of the unique challenges faced with these children.