Surgical Outcomes for the Treatment of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome

Abstract

This study aimed to compare outcomes of concomitant palatoplasty and sphincter pharyngoplasty with pharyngeal flap and sphincter pharyngoplasty alone for the treatment of velopharyngeal insufficiency in patients with 22q11.2 deletion syndrome. Thirty-one cases were identified for inclusion in the study. Patients were separated into 3 surgical groups: combined palatoplasty and sphincter pharyngoplasty (n = 11), pharyngeal flap (n = 7), and sphincter pharyngoplasty (n = 13). Outcome measures included perceptual speech analyses, surgical complications, and revision rates. There were no differences in preoperative speech analysis scores (P = .31). The combined palatoplasty and sphincter pharyngoplasty procedure had similar speech outcomes compared to pharyngeal flap, and both were significantly better than sphincter pharyngoplasty alone. Complication rates (P = .61) and the need for revision surgery (P = .25) were similar among all 3 groups. Concomitant palatoplasty and sphincter pharyngoplasty may be an alternative treatment for velopharyngeal insufficiency in children with 22q11.2 deletion syndrome.

Keywords

22q11.2 deletion syndrome DiGeorge syndrome velocardiofacial syndrome velopharyngeal insufficiency Furlow palatoplasty sphincter pharyngoplasty hypernasality speech outcomes

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References

McDonald-McGinn

Sullivan

Marino

et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:15071.

Wagner

Wolfswinkel

Buchanan

Khechoyan

DY.

Surgical outcomes for speech surgery in 22q11.2 deletion syndrome: the dilemma of persistent velopharyngeal insufficiency after pharyngeal flap operation. J Craniofac Surg. 2017;28:1320-1324.

Robin

Shprintzen

RJ.

Defining the clinical spectrum of deletion 22q11.2. J Pediatr. 2005;147:90-96.

Lipson

Yuille

Angel

et al. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognize. J Med Genet. 1991;28:596-604.

Persson

Lohmander

Jönsson

et al. A prospective cross-sectional study of speech in patients with the 22q11 deletion syndrome. J Commun Disord. 2003;36:13-47.

Rouillon

Leboulanger

Roger

et al. Velopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletion. Arch Otolaryngol Head Neck Surg. 2009;135:652-656.

Persson

Friman

Óskarsdóttir

Jönsson

Speech and hearing in adults with 22q11.2 deletion syndrome. Am J Med Genet A. 2012;158A:3071-3079.

Rommel

Vantrappen

Swillen

et al. Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. Genet Couns. 1999;10:71-78.

Widdershoven

Stubenitsky

Breugem

MinkvanderMolen

AB.

Outcome of velopharyngoplasty in patients with velocardiofacial syndrome. Arch Otolaryngol Head Neck Surg. 2008;134:1159-1164.

10.

Losken

Williams

Burstein

et al. An outcome evaluation of sphincter pharyngoplasty for the management of velopharyngeal insufficiency. Plast Reconstr Surg. 2003;112:1755-1761.

11.

Losken

Williams

Burstein

et al. Surgical correction of velopharyngeal insufficiency in children with velocardiofacial syndrome. Plast Reconstr Surg. 2006;117:1493-1498.

12.

Swanson

Sullivan

Ridgway

et al. Speech outcomes following pharyngeal flap in patients with velocardiofacial syndrome. Plast Reconstr Surg. 2011;127:2045-2053.

13.

Crockett

Goudy

Chinnadurai

Wootten

CT.

Obstructive sleep apnea syndrome in children with 22q11.2 deletion syndrome after operative intervention for velopharyngeal insufficiency. Front Pediatr. 2014;2:84.

14.

Bohm

Padgitt

Tibesar

et al. Outcomes of combined Furlow palatoplasty and sphincter pharyngoplasty for velopharyngeal insufficiency. Otolaryngol Head Neck Surg. 2014;150:216-221.

15.

Shprintzen

Goldberg

Lewin

et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. 1978;15:56-62.

16.

Zim

Schelper

Kellman

et al. Thickness and histologic and histochemical properties of the superior pharyngeal constrictor muscle in velocardiofacial syndrome. Arch Facial Plast Surg. 2003;5:503-510.

17.

Ruotolo

Veitia

Corbin

et al. Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis. Cleft Palate Craniofac J. 2006;43:446-456.

18.

Chegar

Tatum

Marrinan

Shprintzen

RJ.

Upper airway asymmetry in velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol. 2006;70:1375-1381.