Velopharyngoplasty in patients with 22q11.2 microdeletion syndrome: outcomes following the Newcastle protocol

Abstract

Patients with 22q11.2 microdeletion commonly manifest velopharyngeal incompetence (VPI) even without any overt anomaly. The aim of this study was to assess the outcomes of speech surgery in such patients. Twenty consecutive patients (11 girls, nine boys) with 22q11.2 microdeletion underwent surgery for symptomatic VPI in a single-site, tertiary referral cleft unit (Royal Victoria Infirmary, Newcastle-upon-Tyne, UK). Thirteen patients had non-cleft velopharyngeal incompetence (NCVPI), and seven patients had occult sub-mucous cleft palate (SMCP). Patients with cleft palate and/or cleft lip or overt SMCP were excluded. Intraoral examination, lateral videofluoroscopy and intra-operative evaluation were used to assess velar muscle positioning. Using a consistent protocol, nine patients underwent simultaneous intravelar veloplasty (IVVP) and Hynes pharyngoplasty, eight patients underwent pharyngoplasty and three patients underwent IVVP between October 2004 and July 2009. Hypernasality, nasal emission and turbulence were assessed using the Great Ormond Street Speech Assessment protocol. Significant improvement in hypernasality scores was observed in all patients with 22q11.2 undergoing IVVP, pharyngoplasty or combined procedures (p = 0.001). In the NCVPI group, there was a strongly significant improvement in hypernasality scores post-operatively (p = 0.0002). In the occult SMCP group, there was a moderately significant improvement in hypernasality scores post-operatively (p = 0.02). Nasal airflow problems showed a trend to improvement, although did not reach statistical significance. Our protocol, utilising single-stage IVVP, Hynes pharyngoplasty or contemporaneous combination of procedures according to assessment at lateral videofluoroscopy, provides safe, effective and efficient treatment of VPI in VCFS patients with NCVPI or SMCP. Level of Evidence: Level IV, therapeutic study.