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Submucous Cleft Palate Repair in Patients With 22q11.2 Deletion Syndrome
Jenna Fleming1, Noelle Morrell2, Hanan Zavala2
1University of Minnesota Medical School Twin Cities, Minneapolis, MN, USA.
Insights
Children with 22q11.2 deletion syndrome (22q DS) have a significantly higher need for submucous cleft palate (SMCP) surgical repair. This finding highlights the importance of considering 22q DS in SMCP management.
Area of Science:
- Pediatric Surgery
- Genetics
- Craniofacial Anomalies
Background:
- Submucous cleft palate (SMCP) is a congenital condition affecting speech and feeding.
- 22q11.2 deletion syndrome (22q DS) is associated with various congenital anomalies, including palatal defects.
Purpose of the Study:
- To compare the rate of surgical intervention for SMCP in children with and without 22q DS.
- To determine if 22q DS influences the need for SMCP repair.
Main Methods:
- Retrospective chart review of 142 children with SMCP over 20 years.
- Analysis of surgical intervention rates for velopharyngeal insufficiency in children with and without 22q DS.
Main Results:
- Children with 22q DS had a significantly higher frequency of SMCP repair (89.7%) compared to those without (32.0%).
- The odds of requiring SMCP repair were 18.6 times higher in children with 22q DS.
Conclusions:
- Patients with 22q DS with SMCP require surgical repair for velopharyngeal insufficiency at a significantly higher rate.
- Further prospective studies are needed to guide the optimal surgical repair timeline for SMCP in patients with 22q DS.
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.
