Laryngeal pathologies in dysphonic children with Down Syndrome

Area of Science:

• Otolaryngology
• Genetics
• Pediatric Medicine

Background:

• Down syndrome (Trisomy 21) is the most common chromosomal abnormality.
• Congenital heart defects are common in Down syndrome, often requiring early surgery.
• Children with Down syndrome have an increased risk of laryngeal pathologies like subglottic stenosis and vocal fold paralysis.

Purpose of the Study:

• To review pediatric patients with Down syndrome presenting with dysphonia.
• To characterize the specific laryngeal pathologies in this population.
• To identify potential causes and associations of dysphonia in Down syndrome.

Main Methods:

• Retrospective review of patients with Down syndrome and dysphonia (age < 18) at a tertiary pediatric hospital (Jan. 2007-Jul. 2021).
• Data collected included demographics, dysphonia history, comorbidities, voice assessments (perceptual, acoustic), and laryngoscopic/videostroboscopic findings.
• Analysis focused on identifying laryngeal pathologies and their correlation with medical history, particularly cardiac surgery.

Main Results:

• Sixteen of 23 patients (57% male) were diagnosed with vocal fold immobility (13 unilateral, 3 bilateral).
• Five patients had vocal fold nodules.
• Twelve patients with immobility had a history of cardiothoracic surgery; voice quality assessments indicated severe dysphonia.

Conclusions:

• Vocal fold immobility/hypomobility is the leading cause of dysphonia in pediatric Down syndrome patients, unlike vocal fold nodules in the general pediatric population.
• The higher incidence of cardiac surgery in Trisomy 21 patients likely contributes to increased vocal fold immobility.
• A low threshold for laryngoscopic evaluation is advised for dysphonic children with Down syndrome due to available treatment options.