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Read Full Article PEDIATRIC/CRANIOFACIAL Speech Outcomes following Pharyngeal Flap in Patients with Velocardiofacial Syndrome Edward W. Swanson, B.A.S. Background: Velocardiofacial syndrome is the most common defined disorder Stephen R. Sullivan, M.D., associated with palatal insufficiency. The authors’ purpose is to evaluate one M.P.H. surgeon’s experience with correction of velopharyngeal insufficiency in velo- Emily B. Ridgway, M.D. cardiofacial syndrome using a tailored pharyngeal flap. Eileen M. Marrinan, M.S., Methods: The authors reviewed the records of all children with velocardiofacial M.P.H. syndrome and velopharyngeal insufficiency who were managed with a pharyn- John B. Mulliken, M.D. geal flap between 1983 and 2009. Data collected included age at operation, Boston, Mass.; and Syracuse, N.Y. preoperative videofluoroscopic findings, speech outcomes, complications, and need for a secondary operation. Results: The authors identified 33 patients with velocardiofacial syndrome and velopharyngeal insufficiency who had postoperative speech evaluations. Velopha- ryngeal insufficiency was diagnosed at a median age of 5 years. Palatal findings were: Veau type I (n ϭ 4), overt submucous (n ϭ 6), or occult submucous (n ϭ 23). Median preoperative lateral pharyngeal wall movement was 22 percent (range, 0 to 90 percent). Successful correction of velopharyngeal insufficiency was achieved in 29 of 33 patients (88 percent). One patient had a medially displaced right internal carotid artery, and evidenced intraoperative bleeding and required a blood trans- fusion. One patient developed obstructive sleep apnea. Conclusion: A tailored pharyngeal flap is highly effective for correction of velopharyngeal insufficiency in velocardiofacial syndrome with few complications. (Plast. Reconstr. Surg. 127: 2045, 2011.) irst described by Shprintzen et al. in 1978,1 the The reported prevalence of velopharyngeal in- estimated incidence of velocardiofacial syn- sufficiency in velocardiofacial syndrome ranges drome ranges from one in 2000 to one in 7000 between 32 and 75 percent.13,14 Approximately 75 F 2,3 births. It can be sporadic or inherited as an percent of patients with velocardiofacial syndrome autosomal dominant disorder, and is caused by have either overt cleft palate (20 percent), sub- deletion of band 11.2 on chromosome 22.4–6 This mucous cleft palate (44 percent), or occult sub- deletion can be diagnosed by fluorescent in situ mucous cleft palate (38 percent).15 Adenoidal hy- hybridization5,7 and with increased sensitivity by mul- poplasia and cranial platybasia cause a relatively tiplex ligation–dependent probe amplification deep pharynx, which further contributes to velo- technology.8,9 Clinical features include characteristic pharyngeal insufficiency.11,12,16 The most impor- facies, cognitive or behavioral disorders, hearing loss, conotruncal cardiac malformations, urogenital anomalies, hypocalcemia, immunologic disorders, and musculoskeletal abnormalities.10–13 Disclosure: There are no commercial associations or financial disclosures to report for this article. From the Department of Plastic Surgery and the Craniofacial Center, Children’s Hospital and Harvard Medical School, and the Central New York Cleft and Craniofacial Center, Upstate Medical University Hospital. Supplemental digital content is available for Received for publication June 18, 2010; accepted October 18, this article. Direct URL citations appear in the 2010. printed text; simply type the URL address into Presented at the 16th Annual International Scientific Meet- any Web browser to access this content. Click- ing of the Velo-Cardio-Facial Syndrome Educational Foun- able links to the material are provided in the dation, Inc., in Rome, Italy, July 3 through 5, 2009. HTML text of this article on the Journal’s Web Copyright ©2011 by the American Society of Plastic Surgeons site (www.PRSJournal.com). DOI: 10.1097/PRS.0b013e31820e91e6 www.PRSJournal.com 2045 Plastic and Reconstructive Surgery • May 2011 tant cause of velopharyngeal insufficiency is gen- nance angiography to assess possible medial dis- eralized pharyngeal hypotonia, resulting in placement of the internal carotid arteries. limited palatal and lateral pharyngeal wall move- ment, and is observed in up to 90 percent of Operative Technique patients.17 Postverbal resolution of velopharyngeal The pharyngeal flap is constructed with the insufficiency contributes to the high prevalence of child in the Rose position.23 Slight cervical exten- compensatory articulation (e.g., glottal stops, la- sion helps straighten and laterally displace the ryngeal fricatives, and pharyngeal fricatives), sometimes medially deviated internal carotid which also diminishes lateral pharyngeal wall arteries.27 The velum is divided in the midline, movement. This combination of anatomical and approximately halfway to the junction with the physiologic abnormalities makes it difficult to hard palate, and trapezoidal nasal mucosal flaps treat velopharyngeal insufficiency in velocardio- are incised and elevated. A superiorly based flap is facial syndrome. A pharyngeal flap is considered elevated off the buccopharyngeal fascia to a level the most effective procedure, with success rates above the soft palate. Flap width (either narrow, of 78 to 98 percent.18–21 Other surgical options, medium, wide, very wide, subobstructing) is “tai- including palatoplasty (intravelar muscular lored” based on lateral pharyngeal wall motion (as retropositioning22 or double-opposing Z-palato- documented by videofluoroscopy) and transverse plasty23) and sphincter pharyngoplasty,16 are re- oropharyngeal dimension. The pharyngeal donor ported to be less successful.24–26 The purpose of site is closed by advancing the lateral mucosal this study was to evaluate one surgeon’s experi- edges, which are sutured to the fascia superiorly ence with correction of velopharyngeal insuffi- and apposed inferiorly. The distal end of the up- ciency in velocardiofacial syndrome using a lined turned pharyngeal flap is placed on the raw nasal pharyngeal flap, constructed based on lateral pha- surface of the soft palate and secured with three ryngeal wall motion and the transverse dimension resorbable horizontal mattress sutures. Then, 12- of the oropharynx. or 14-French red rubber catheters are placed through the nose and along each side of the flap; 28 PATIENTS AND METHODS however, “lateral port control” is not used. The nasal mucosal flaps are sutured to the base of the After approval by the Institutional Review flap, apposed to line the raw surface of the flap, Board of the Committee on Clinical Investigation, and the velum is repaired. we identified and reviewed the charts of all pa- tients who had a diagnosis of velocardiofacial syn- drome and had an operation for velopharyngeal Treatment Outcomes insufficiency. A geneticist evaluated all patients, Patients were followed annually in the cleft lip– and the clinical diagnosis was made in conjunction cleft palate clinic; the senior author examined all with a positive fluorescent in situ hybridization test patients. A speech pathologist performed preoper- for 22q11.2 deletion. The senior author (J.B.M.) ative and postoperative perceptual assessments us- performed all operations between 1983 and 2009. ing the Pittsburgh Weighted Values for Speech Patient charts and operative reports were culled, Symptoms Associated with Velopharyngeal Incom- and data collected included date of birth, sex, age petence instrument.29–31 Speech performance was at primary operation, preoperative and postoper- based on three structurally correctable variables: ative speech assessment, videofluoroscopic results, resonance (normal, mildly hyponasal, mixed hypo- need for a secondary operation, and perioperative nasal/hypernasal, inconsistent mildly hypernasal, and postoperative complications. consistent mildly hypernasal, or moderately or se- Patients with velopharyngeal insufficiency were verely hypernasal), nasal emission (absent by mir- evaluated at age 4 years or older by multiview vid- ror examination, visible, audible, or turbulent), eofluoroscopy before a pharyngeal flap. Lateral pha- and intraoral pressure (normal or decreased). All ryngeal wall motion (i.e., percentage of closure by children and families were asked whether speech medial movement), velopharyngeal gap size (i.e., posed a personal or social problem when talking small, moderate, or gross), and shape of the velo- to others.32 The speech pathologist provided an pharyngeal defect (i.e., coronal, sagittal, or circu- overall assessment of velopharyngeal function: (1) lar) were recorded. Enlarged tonsils (2ϩ or normal (normal or hyponasal resonance, absence greater) were removed at least 8 weeks before the of visible nasal emission by mirror examination, pharyngeal flap. All patients had preoperative normal intraoral pressure, or no personal/social magnetic resonance imaging and magnetic reso- problems); (2) borderline sufficient (inconsistent 2046 Volume 127, Number 5 • Correcting Velopharyngeal Insufficiency mildly hypernasal resonance, visible nasal emission, acteristics of these 33 patients who had a pharyn- normal intraoral pressure, or no personal/social geal flap are summarized in Table 1. problems); (3) borderline insufficient (consistent The median preoperative lateral pharyngeal mildly hypernasal resonance, audible or turbulent wall movement was 22 percent (range, 0 to 90 nasal emission, inconsistent decreased intraoral percent). Most patients had a large circular velo- pressure, or a personal/social
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