In Search of the Optimal Surgical Treatment for Velopharyngeal Dysfunction in 22q11.2 Deletion Syndrome: A Systematic Review

<div><h3>Background</h3><p>Patients with the 22q11.2 deletion syndrome (22qDS) and velopharyngeal dysfunction (VPD) tend to have residual VPD following surgery. This systematic review seeks to determine whether a particular surgical procedure results in superior speech outcome or less morbidity.</p> <h3>Methodology/ Principal Findings</h3><p>A combined computerized and hand-search yielded 70 studies, of which 27 were deemed relevant for this review, reporting on a total of 525 patients with 22qDS and VPD undergoing surgery for VPD. All studies were levels 2c or 4 evidence. The methodological quality of these studies was assessed using criteria based on the Cochrane Collaboration's tool for assessing risk of bias. Heterogeneous groups of patients were reported on in the studies. The surgical procedure was often tailored to findings on preoperative imaging. Overall, 50% of patients attained normal resonance, 48% attained normal nasal emissions scores, and 83% had understandable speech postoperatively. However, 5% became hyponasal, 1% had obstructive sleep apnea (OSA), and 17% required further surgery. There were no significant differences in speech outcome between patients who underwent a fat injection, Furlow or intravelar veloplasty, pharyngeal flap pharyngoplasty, Honig pharyngoplasty, or sphincter pharyngoplasty or Hynes procedures. There was a trend that a lower percentage of patients attained normal resonance after a fat injection or palatoplasty than after the more obstructive pharyngoplasties (11–18% versus 44–62%, p = 0.08). Only patients who underwent pharyngeal flaps or sphincter pharyngoplasties incurred OSA, yet this was not statistically significantly more often than after other procedures (p = 0.25). More patients who underwent a palatoplasty needed further surgery than those who underwent a pharyngoplasty (50% versus 7–13%, p = 0.03).</p> <h3>Conclusions/ Significance</h3><p>In the heterogeneous group of patients with 22qDS and VPD, a grade C recommendation can be made to minimize the morbidity of further surgery by choosing to perform a pharyngoplasty directly instead of only a palatoplasty.</p> </div

Variações anatômicas e sinusopatias: estudo por tomografia computadorizada Anatomical variations and sinusitis: a computed tomographic study

Introdução: A tomografia computadorizada tem sido cada vez mais utilizada para a identificação e avaliação das variações anatômicas das cavidades nasais que podem levar às sinusites. Objetivo: Avaliar, por meio da tomografia computadorizada, a incidência de espessamento mucoso nos seios paranasais de pacientes com sintomas de sinusite e a correlação entre sinusopatias e presença de célula de Haller, concha média bolhosa e desvio de septo nasal localizado no meato médio. Forma de Estudo: Clínico retrospectivo. Material e Método: Foram avaliadas retrospectivamente 150 tomografias computadorizadas de seios paranasais de pacientes com idade igual ou superior a 13 anos, realizadas no Departamento de Diagnóstico por Imagem da Universidade Federal de São Paulo - Escola Paulista de Medicina, no período de julho de 1999 a outubro de 2001. Foram excluídos os exames de pacientes com pós-operatório de cirurgias de seios paranasais e de base de crânio, além dos portadores de lesões tumorais envolvendo estas regiões. Resultados: 70% dos pacientes apresentavam espessamento mucoso em pelo menos um dos seios paranasais. Observou-se a freqüência de 52,7% de sinusopatia maxilar, 28,0% de etmoidal, 13,0% de esfenoidal e 8,3% de frontal. Concha média bolhosa foi encontrada em 33,3% das cavidades nasais, desvio de septo nasal localizado no meato médio em 23,3% e célula de Haller em 9,3%. Conclusões: Os seios paranasais mais freqüentemente acometidos foram, em ordem decrescente: maxilar, etmoidal, esfenoidal e frontal. Não foi observado correlação entre sinusopatias e presença de célula de Haller, concha média bolhosa e desvio de septo nasal localizado no meato médio.<br>Introduction: Computed tomography has been increasingly used both to identify and to evaluate anatomy variations of nasal cavities that can lead to the development of sinusitis. Purpose: The purpose of the present study is to determine the incidence of mucosal abnormalities in paranasal sinuses found in CT scans of patients with symptons of sinusitis and analyze the correlation between sinusitis and presence of Haller's cell, concha bullosa and nasal septal deviation located in middle meatus. Study Design: Clinical retrospective. Material and Method: Paranasal sinus CT scans were obtained in 150 patients aged 13 years or more, from July 1999 to October 2001. The CT scans were performed in the Department of Radiology of Universidade Federal de São Paulo - Escola Paulista de Medicina. Patients with history of skull base or sinus surgery and tumor in these regions were excluded. Results: 70% of patients present mucosal abnormalities at least in one paranasal sinus. Maxillary sinusitis were observed in 52,7% of sinus, ethmoidal sinusitis in 28,0%, sphenoidal sinusitis in 13,0% and frontal sinusitis in 8,3%. Concha bullosa was observed in 33,3% of nasal cavities, nasal septal deviation (located in middle meatus) in 23,3% and Haller's cell in 9,3%. Conclusions: The most affected paranasal sinuses were: maxillary, ethmoid, sphenoid and frontal. Correlation between sinusitis and presence of Haller's cell, concha bullosa and nasal septal deviation (located in middle meatus) was not observed