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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.

Objective: To determine whether surgical intervention for submucous cleft palate (SMCP) is more common in children with 22q11.2 deletion syndrome (22q DS) compared to children without 22q DS. Design: Retrospective chart review. Setting: Tertiary pediatric hospital and 22q11.2 DS specialty clinic. Participants: One hundred forty-two children seen at the tertiary hospital or clinic during a 20-year period (June 1999-June 2019) with documented SMCP with and without 22q DS. Main Outcome Measure: Percentage of children with SMCP with and without 22q DS requiring surgical intervention for velopharyngeal insufficiency. Results: Patients with 22q DS had a significantly higher frequency of SMCP repair than those without 22q DS (89.7% vs 32.0%, P < .001, χ2 = 37.75). The odds of requiring SMCP repair were 18.6 times higher in those with 22q DS compared to those without (odds ratio = 18.6, CI = 6.1-56.6). Conclusions: This study provides new evidence suggesting patients with 22q DS require SMCP surgical repair for velopharyngeal insufficiency at a significantly higher rate than those without 22q DS. As the majority of patients with 22q DS with SMCP require surgical intervention, future prospective studies looking at early versus late repair of SMCP in patients with 22q DS are needed to guide the surgical repair timeline in this population.

Objective: To describe the incidence of percutaneous enteral feeding in patients with 22q11.2 deletion syndrome (22q11.2 DS) and determine factors associated with the need for percutaneous enteral feeding tube placement. Design: Retrospective chart review. Methods: The records of a 22q11.2 DS clinic and pediatric otolaryngology clinic at a tertiary pediatric hospital were reviewed from January 1, 2009, to December 31, 2019. All patients with confirmed 22q11.2 deletion were identified. Cardiac, otolaryngological, and feeding characteristics were recorded along with surgical history. A patient was defined to have a G-tube if the history was significant for any percutaneous gastric feeding tube placement, including a gastrostomy tube, gastrostomyjejunostomy tube, or a Mickey button. Results: One hundred ninety patients with confirmed 22q11.2 DS by genetic testing were included. Thirty-three percent (n = 63) required G-tube placement. G-tube placement was associated with cardiac diagnosis ( P < .01), history of cardiac surgery ( P < .01), aspiration ( P < .01), nasopharyngeal reflux ( P < .01), subglottic stenosis ( P < .01), laryngeal web ( P = .003), and tracheostomy ( P < .01). This suggests these conditions are associated with higher rates of G-tube placement in the 22q11.2 DS population. Conclusions: Patients with 22q11.2 DS often require supplemental nutritional support in the form of G-tube feeding, most often in the first year of life. Congenital heart abnormalities and surgery along with tracheostomy, subglottic stenosis, laryngeal web, aspiration, and nasopharyngeal reflux are significantly associated with the need for G-tube placement. Understanding associations between comorbid conditions and G-tube placement, especially those involving the head and neck, may assist with counseling of patients with 22q11.2 DS.