Submucous Cleft Palate Repair in Patients With 22q11.2 Deletion Syndrome

Abstract

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.

Prognostic Factors for Speech Outcome among Patients with Submucous Cleft Palate Managed by Furlow Palatoplasty or Posterior Pharyngeal flap

“…13,28,63,69 The literature reports a 2% to 10% occurrence of obstructive sleep apnea after PPF, which has a substantial negative effect on quality of life. 16,18,24 Considering the potential airway risk, PPF is mostly reserved as a secondary procedure in SMCP management. 34,35,70 In our subgroup analyses, PPF yielded higher VPC rate than FP among patients older than 9.5.…”

“…36,37 Patients who had syndromes, hypotonia, central neural disorders, or other nasopharyngeal operations, including tonsillectomy and adenoidectomy, were excluded. 16,38 The research protocol was approved by the institutional review board of West China Hospital of Stomatology (no. WCHSIRB-D-2017-104).…”

“…[10][11][12][13][14] To avoid overtreatment for patients with competent velopharyngeal function, surgical intervention is usually postponed until the patients produce adequate speech samples for assessment. [15][16][17] How the delay in surgery affects the speech outcome is unclear and there is no consensus on the optimal surgical timing. 18 Both palate-based and pharynx-based techniques have been used for SMCP management.…”

Surgical Management of Submucous Cleft Palate by Radical Muscle Dissection Veloplasty: Speech Outcomes in Patients with 22q11.2 Deletion Syndrome

“…20 Patients with 22q11.2 deletion syndrome require repair of VPI at significantly greater frequencies than those without the syndrome. 21 It is therefore important to identify these patients then provide targeted surgical treatment.…”