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Updated: Aug 12, 2025
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Published on: August 11, 2023
Sphincter Pharyngoplasty for Velopharyngeal Dysfunction: Impact of 22q11.2 Deletion Syndrome
Prasanth Pattisapu1,2, Sara Kinter3,4,5, Randall A Bly6,7
1Department of Otolaryngology-Head & Neck Surgery, Nationwide Children's Hospital and The Ohio State University, Columbus, Ohio, USA.
Objective:
Patients with 22q11.2 deletion syndrome (22q11DelS) often present with velopharyngeal dysfunction (VPD). VPD in patients with 22q11DelS is multifactorial beyond velopharyngeal insufficiency (VPI) alone, and differences in surgical outcomes are poorly understood. Our objective was to determine whether patients with 22q11DelS have an increased risk for persistent VPI after sphincter pharyngoplasty compared to patients without 22q11DelS.
Methods:
We completed a retrospective cohort study of patients with 22q11DelS undergoing sphincter pharyngoplasty between 1995 and 2019 using a VPD clinic database. Patients with 22q11DelS were compared to a cohort of 2:1 frequency-matched (age, degree of velopharyngeal closure) patients without 22q11DelS. Variables included patient characteristics, surgical history, perceptual speech evaluation, and degree of closure on nasopharyngoscopic evaluations. Primary outcomes included postoperative VPI severity and hypernasality. Speech and nasopharyngoscopic characteristics were compared using Fisher's exact test. Postoperative VPI severity and hypernasality were compared between groups via relative risks (RR) from mixed effects Poisson regression models, with random effects of age and velopharyngeal closure.
Results:
134 patients (51 22q11DelS, 83 matched) were included, with mean age of 7.3 years (standard deviation 3.0) and 50% male. Cohorts had similar preoperative speech characteristics and nasopharyngoscopic findings. Patients with 22q11DelS had similar postoperative VP function as patients without 22q11DelS (RR 0.85, CI 0.46-1.57 for VPI severity, RR 0.83, CI 0.45-1.53 for hypernasality). Even after adjusting by preoperative variables, no differences were seen between both groups.
Conclusion:
Matched for age and pre-operative velopharyngeal closure, patients with and without 22q11DelS and VPI had similar benefits after sphincter pharyngoplasty.
Level Of Evidence:
Non-randomized controlled cohort study, 3 Laryngoscope, 133:2813-2820, 2023.
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