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Pharyngeal flap using carotid artery mobilization in 22q11.2 deletion syndrome with velopharyngeal insufficiency
Max Greenberg1, Christen Caloway2, Cheryl Hersh2
1Rosalind Franklin University of Medicine and Science, Chicago Medical School, North Chicago, IL, USA; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
Insights
A novel surgical technique involving carotid artery mobilization and pharyngeal flap surgery improved speech and velopharyngeal insufficiency (VPI) in children with 22q11.2 deletion syndrome. The procedure was safe and effective, showing positive outcomes in speech, nasometry, and quality of life scores.
Area of Science:
- Pediatric Surgery
- Genetics
- Speech Pathology
Background:
- 22q11.2 deletion syndrome is a common microdeletion causing craniofacial defects, including velopharyngeal insufficiency (VPI).
- VPI significantly impacts speech and quality of life in affected children.
Purpose of the Study:
- To describe a novel surgical technique for treating VPI in patients with 22q11.2 deletion syndrome.
- To evaluate the safety and efficacy of carotid artery mobilization combined with pharyngeal flap surgery.
Main Methods:
- Two pediatric patients with 22q11.2 deletion syndrome and VPI underwent carotid artery mobilization and pharyngeal flap surgery.
- The procedure involved extensive mobilization of the carotid artery followed by flap insertion.
Main Results:
- No significant intra-operative bleeding or post-operative complications occurred.
- Patients demonstrated notable improvements in speech, voice, nasometry, and VELO scores.
- Surgical success was confirmed by objective measures and parental reports.
Conclusions:
- Carotid artery mobilization with pharyngeal flap surgery is a safe and effective novel treatment for VPI in 22q11.2 deletion syndrome.
- This technique addresses VPI in patients with extensive carotid artery medialization.
- The procedure leads to significant functional speech improvements and enhanced quality of life.
Introduction:
22q11.2 deletion syndrome is the most common microdeletion syndrome in children. Many patients with this disease develop craniofacial defects including cleft palate, bifid uvula, and velopharyngeal insufficiency. Our study adds to the current body of literature by describing a novel technique of carotid mobilization performed in conjunction with pharyngeal flap surgery in patients with extensive medialization of the carotid artery.
Methods:
Carotid artery mobilization followed by insertion of a superiorly based pharyngeal flap was performed on two patients, a 10-year-old girl and a 5-year-old boy, with 22q11.2 deletion syndrome concurrent with velopharyngeal insufficiency.
Results:
Neither patient experienced significant post-operative issues. Following the procedure, parents of both patients noted significant speech and voice improvement. Both patients had improvements in VPI Effects On Life Outcome (VELO) scores, nasometry, and production of paragraph passages following surgery.
Conclusions:
Our study describes a novel surgical treatment for children with 22q11.2 deletion syndrome with significant velopharyngeal insufficiency (VPI). The procedure wherein is characterized by an extensive mobilization of the carotid artery followed by implantation of a pharyngeal flap. This technique resulted in no significant intra-operative bleeding, and was measured to be successful as noted by nasometry scores and changes in pre- and post-op VELO scores.
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