Congenital and iatrogenic laryngeal and vocal abnormalities in patients with 22q11.2 deletion.

Background: Voice abnormalities often go unrecognized in patients with 22q11.2 deletion because speech abnormalities become the focus of evaluation.

Objective: To analyze voice and vocal fold abnormalities in patients with 22q11.2 deletion by examining voice, not speech.

Methods: This is a case series with chart review from 2009 to 2016. Records of both a velocardiofacial syndrome (VCF) clinic and pediatric otolaryngology clinic at a tertiary pediatric hospital were reviewed. All patients with confirmed 22q11.2 deletion were identified. Cardiac, otolaryngological, speech, and voice characteristics were recorded along with surgical history. Main outcomes included voice characteristics based on speech therapy assessment, along with vocal fold or laryngeal abnormalities. Co-morbidities and surgical history were also recorded.

Results: 109 patients were identified with 22q11.2 deletion by genetic testing. Eighteen percent (n = 20) displayed a vocal fold or laryngeal abnormality, either congenital or iatrogenic. The most common congenital abnormalities were laryngeal web (n = 10) and subglottic stenosis (n = 7). The most common iatrogenic abnormality was paralyzed left vocal fold (n = 4). Perceptual analysis by speech therapy showed 65% (n = 71) with a voice within normal limits while 17% (n = 19) were not within normal limits. Of the 20 patients with a vocal fold abnormality, 15% (n = 3) presented a voice within normal limits, while 65% (n = 13) were not within normal limits. Of the 19 patients with a voice outside normal limits, 68% (n = 13) had a diagnosed vocal fold abnormality. Sixteen percent (n = 3) of these patients had an abnormal voice as a result of other issues.

Conclusion: Out of 109 patients with 22q11.2 deletion, 18% displayed a laryngeal abnormality and 17% had abnormal vocal quality. This suggests that voice and vocal fold abnormalities are important to consider in this population. Distinguishing between speech and voice abnormalities in patients with 22q11.2 deletion can help ensure appropriate intervention.