The Effect of Loudness Variation on Velopharyngeal Function in Children with 22q11.2 Deletion Syndrome: A Pilot Study

Children with 22q11.2 deletion syndrome (22qDS) often require surgical intervention to treat velopharyngeal dysfunction (VPD). Although some studies have documented improved velopharyngeal (VP) closure under increased speaking effort, currently no studies have examined the effect of similar behavioral speech modifications on VP closure in children with 22qDS. The purpose of this pilot study was to explore the effect of loudness on VP closure during speech in children with 22qDS and persisting VPD.

Four children with 22qDS, posterior pharyngeal flap, and persisting mild VPD underwent pressure-flow testing while repeating words at habitual and increased loudness levels. Using a single-subject A-B design, descriptive statistics and graphical measures were used to examine differences in VP orifice area (VPA) and timing of closure in the habitual versus loud condition.

Results were mixed. Median VPA decreased during some stimuli for 3 participants, but increased for 1 subject when speaking louder. Median duration of nasal airflow decreased for 3 participants in the loud condition.

This study presents preliminary aerodynamic data regarding the plasticity of VP physiology in the 22qDS group. Further research is needed to determine how loudness impacts VP function in children with 22qDS.