Otolaryngologic Disease in Down syndrome

Abstract

As the most common human chromosomal abnormality, Trisomy 21 is a condition that many otolaryngologists and likely all pediatric otolaryngologists will encounter during their careers. There are several considerations regarding airway obstruction, otologic conditions, anesthetic implications, and endocrine disorders that will impact the treatment of these patients. Further, there is increasing literature supporting the use of early instrumental assessment of swallowing, drug-induced sleep endoscopy at the time of first surgical intervention for sleep apnea, consideration of concurrent upper and lower airway evaluation, and early otologic management including potential surgical hearing rehabilitation.

Keywords: Down syndrome; Dysphagia; Hearing loss; Obstructive sleep apnea; Otolaryngology; Trisomy 21; Upper airway obstruction.