Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome Patients: An Assessment of Nasal Endoscopy and Speech Evaluation Findings

Abstract

Objective: The goal of this study was to assess the correlation between nasal endoscopy and speech evaluation findings in a population of 22q11.2DS patients undergoing operative intervention for correction of VPI at a quaternary care pediatric hospital. We hypothesized using a modified grading scale, certain nasal endoscopy findings such as larger pre-operative velopharyngeal gap size would correlate with perceptual speech assessment findings such as decreased intelligibility, increased hypernasality, and increased nasal emission. Subjects and Methods: A retrospective chart review was conducted, reviewing fifty-two pediatric patients with 22q11.2DS who presented to the VPI clinic and were candidates for surgery at an urban, quaternary care children’s hospital between 2010 and 2019. The following information was collected: demographic information, presenting symptoms of 22q11DS, speech therapy evaluation data, VPI surgical data, and complications. Thirty-two patients had complete preoperative records and thus were ultimately included in the review. Results: Twelve patients (37.5%) had a small gap size, 13 patients (40.6%) had a moderate gap size, and 5 patients (15.6%) had a large gap size. There was no statistically significant correlation between intelligibility and right lateral wall movement (rho: 0.315, p-value: 0.218), left lateral wall movement (rho: 0.175, p-value: 0.502), or AP movement (rho: 0.172, p-value: 0.525). Velum length was negatively correlated with intelligibility (rho:-0.486, p-value:0.048). Conclusion: Our data emphasizes the importance of a multidisciplinary team when evaluating complex 22q11.2DS patients. Our unique scale provides an objective measure of nasal endoscopy by consistently documenting the findings of AP movement, gap shape, gap size, as well as other details such as velar notch and presence of Passavant’s ridge.