Laryngeal pathologies in dysphonic children with Down Syndrome

Down syndrome is the most common chromosomal abnormality and is associated with a higher incidence of congenital heart defects, which often require surgery within the first year of life. Previous studies have found that children with Down syndrome are at higher risk for subglottic stenosis, vocal fold paralysis, and laryngomalacia. The goal of this study is to review children with Down syndrome presenting with dysphonia and to characterize their laryngeal pathologies.

A retrospective review was performed of patients with Down syndrome seen at a tertiary pediatric hospital's department of otolaryngology from Jan. 2007-Jul. 2021 for voice-related concerns. Inclusion criteria included age less than 18 years, diagnosis of Trisomy 21, and complaint of dysphonia. The data extracted included history of dysphonia, co-morbidities, demographic information, age at presentation, perceptual voice assessments, voice quality of life scores, acoustic data, laryngoscopic and/or videostroboscopic exams, and surgical procedures.

Twenty-three total patients met the study criteria. Of these children, 13 (57%) were male and 10 (43%) were female. The mean age at first presentation was 4.08 years (range 12 days-16.3 years). Eleven of the 23 patients presented within the first 12 months of life. Sixteen patients were diagnosed with vocal fold immobility, 13 of which were left-sided unilateral immobility and the remaining 3 were bilateral immobility. 5 patients were diagnosed with vocal fold nodules. 12 children in the immobility group had a history of cardiothoracic surgery at our institution. Only 3 patients had Consensus Auditory-Perceptual Evaluation of Voice (CAPE-V) assessments, though all three showed overall dysphonia ratings of severely deviant, with roughness and strain scores being the most severe.

The most common etiology of dysphonia in our Down syndrome patient population was vocal fold immobility and hypomobility, as opposed to vocal fold nodules (which is the most common in the general pediatric population). The higher likelihood of cardiac surgery in patients with Trisomy 21 may result in the increased incidence of vocal fold immobility. There should be a low threshold to refer dysphonic patients with Down syndrome for laryngoscopic evaluation, as treatment options may be available.