Submucous Cleft Palate Repair in Patients 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%, < .001, χ = 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.