Speech outcomes in children with 22q11.2 deletion syndrome following surgery for velopharyngeal insufficiency |
| |
| Affiliation: | 1. Department of Otolaryngology, Washington University School of Medicine in Saint Louis, 4921 Parkview Place, Suite A, 11th Floor, St. Louis, MO, 63110, USA;2. Emory University School of Medicine, 100 Woodruff Circle, Atlanta, GA, 30322, USA;3. Department of Otolaryngology, Vanderbilt University Medical Center, 1215 21st Avenue South, Medical Center East, South Tower, Nashville, TN, 37232, USA;4. Department of Otolaryngology – Head & Neck Surgery, Emory University School of Medicine, 2015 Uppergate Drive, Room 222, Atlanta, GA, 30322, USA;1. Faculty of Biomedical Engineering, Silesian University of Technology, Roosevelta 40, 41-800 Zabrze, Poland;2. Faculty of Humanities, Institute of Linguistics, University of Silesia, Sejmu Śląskiego 1, 40-001 Katowice, Poland;1. Centre de dépistage et de prise en charge des troubles psychiatriques d’origine génétique, pôle Ouest, centre hospitalier Le Vinatier, 95, boulevard Pinel, 69677 Bron cedex, France;2. Centre de neuroscience cognitive, UMR 5229 (CNRS et université Lyon 1), 67, boulevard Pinel, 69675 Bron cedex, France;3. Service de génétique et centre de référence des anomalies du développement, GHE, hospices civils de Lyon, 59, boulevard Pinel, 69500 Bron, France;4. Centre de recherche en neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, université Claude-Bernard – Lyon 1, 95, boulevard Pinel, 69500 Bron, France;5. Unité de recherche de l’Office médico-pédagogique, département de psychiatrie, faculté de médecine, université de Genève, 24, rue du Général-Dufour, 1211 Genève 4, Suisse;6. Université de Bourgogne, esplanade Erasme, 21078 Dijon, France;7. SUR, centre hospitalier Le Vinatier, 95, boulevard Pinel, 69500 Bron, France;8. Département de médecine génétique et développement, faculté de médecine, université de Genève Michel-Servet 1, 24, rue du Général-Dufour, 1211 Genève 4, Suisse;9. Pôle Est, centre hospitalier Le Vinatier, 95, boulevard Pinel, 69677 Bron cedex, France;1. Rosalind Franklin University of Medicine and Science, Chicago Medical School, North Chicago, IL, USA;2. Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA;3. Massachusetts General Hospital for Children, Harvard Medical School, Boston, MA, USA;1. Genetic Counseling Master''s Program, Arcadia University, Glenside, PA, USA;2. 22q and You and Clinical Genetics Centers, The Children''s Hospital of Philadelphia, Philadelphia, PA, USA;3. Pediatric Voice Program and The Center for Pediatric Airway Disorders, The Children''s Hospital of Philadelphia, Philadelphia, PA, USA;4. Department of Otolaryngology: Head & Neck Surgery, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA;5. Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA;1. The Children''s Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA;2. The Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA;1. Department of Communication Sciences & Disorders, Louisiana State University, Baton Rouge, LA;2. Department of Communication Sciences & Disorders, University of Alberta, Canada |
| |
| Abstract: | ObjectiveThe purpose of this study was to identify prognostic factors associated with improved speech outcomes following surgical correction for velopharyngeal insufficiency (VPI) in pediatric patients with 22q11.2 deletion syndrome (22q11DS).MethodsEighteen patients were identified via retrospective chart review of patients with 22q11DS between 2005 and 2014. Patient characteristics, medical histories, associated comorbidities, surgical procedures, and pre- and postoperative perceptual hypernasality (subjectively rated 1–5 with 5 being the most severe) were gathered for each patient.Results12 patients (67%) experienced improvement in hypernasality following corrective surgery for VPI. Higher severity of hypernasality preoperatively was found to be indicative of a lower chance of improvement with VPI surgery. Of 8 patients with a preoperative hypernasality score of 5, 3 (38%) showed improvement in hypernasality postoperatively, while 9 out of 10 (90%) of patients with a preoperative hypernasality score less than 5 showed postoperative improvement. Females were also found to have worse speech outcomes compared to males.Conclusion22q11DS patients presenting with severely hypernasal speech preoperatively are less likely to show improvement in hypernasality following corrective surgery for VPI. Those patients with moderate hypernasality are most likely to benefit from surgery. |
| |
| Keywords: | 22q11.2 microdeletion syndrome DiGeorge syndrome Velocardiofacial syndrome Velopharyngeal insufficiency Cleft palate Speech articulation disorder |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
