Assessment of the Velopharyngeal Mechanism at Rest and During Speech in Children With 22q11.2DS: A Cross-Sectional Study

Abstract

Objective Velopharyngeal dysfunction (VPD) associated with 22q11.2 deletion syndrome (22q11.2DS) has a complex etiology. This study had 3 aims: (1) assess differences in velopharyngeal and levator muscle configuration during rest versus sustained speech production (2) compare differences in velopharyngeal changes between children with and without 22q11.2DS (3) examine the relationship between adenoid thickness, pharyngeal depth, and velopharyngeal changes. Design Cross-sectional. Methods A total of 22 participants, 11 with 22q11.2DS and 11 controls with normal speech and velopharyngeal anatomy (ages 4-12 years), underwent nonsedated MRI at rest and during sustained /i/. Differences in velar and levator muscle contraction across the 2 different conditions were analyzed, using matched paired t-tests. Mean differences across participant groups were examined. Correlation analyses were also conducted. Results When comparing differences between rest and sustained phoneme production (aim 1), significant ( P < .05) differences were noted for all velar and levator muscle variables. For differences in velopharyngeal changes between children with and without 22q11.2DS (aim 2), VP ratio and effective VP ratio were noted to be significantly different. Pharyngeal depth and adenoid thickness were correlated with velar and levator muscle change measures and ratios (aim 3). Conclusion Results from this study provide quantitative in vivo measurements of the contracted levator muscle and velum in young children with 22q11.2DS. Results demonstrated that VP ratio and EVP ratio are significantly different between children with and without 22q11.2DS and that pharyngeal depth is a strong clinical determinant of VPD in children with 22q11.2DS.

Magnetic Resonance Imaging of the Velopharynx: Clinical Findings in Patients with Velopharyngeal Insufficiency

“…Patients with 22q11.2 deletion syndrome have been reported by Kollara and colleagues 25,26,51 to have a thinner velum, larger pharyngeal depth, decreased velar length, and decreased effective velopharyngeal ratio compared with controls. Our findings in patients with noncleft VPI, only half of whom had 22q11.2 deletion syndrome, suggest that decreased velar thickness, velar length, and effective velopharyngeal ratio are common findings in noncleft VPI presentations, both with and without 22q11.2 deletion syndrome.…”

“…Our study extends previous work on the failed pharyngeal flap by also showing that 40% of these patients had LVP muscle discontinuity, suggesting that velopharyngeal closure may have been limited by ineffective contraction of the LVP muscles. Evidence is lacking on the most effective approach to treatment of the failed pharyngeal flap, but in our practice, if a patient has persistent hypernasality after pharyngeal flap placement and MRI shows Patients with 22q11.2 deletion syndrome have been reported by Kollara and colleagues 25,26,51 to have a thinner velum, larger pharyngeal depth, decreased velar length, and decreased effective velopharyngeal ratio compared with controls. Our findings in patients with noncleft VPI, only half of whom had 22q11.2 deletion syndrome, suggest that decreased velar thickness, velar length, and effective velopharyngeal ratio are common findings in noncleft VPI presentations, both with and without 22q11.2 deletion syndrome.…”