Prevalence of cholesteatoma in children with 22q11.2 deletion syndrome

Objective: To investigate the prevalence and relative risk of middle ear cholesteatoma in children with 22q11.2 deletion syndrome (22q11.2DS) as compared to children without the deletion, and to examine the relationship between cleft palate and cholesteatoma risk for these patients. Methods: A retrospective cohort study was conducted using the TriNetX Analytics Network, a federated health research network that aggregates data from 45 U S. healthcare organizations. Patients who are 18 years old or younger with 22q11.2DS and without 22q11.2DS (control) were included. Patients in each group with a diagnosis of middle ear cholesteatoma or cleft palate were reported. Results: The study included 6883 children with 22q11.2DS and 18,678,712 children without the deletion. The prevalence of middle ear cholesteatoma was higher in children with 22q11.2DS (0.872 %) compared to controls (0.0573 %), representing a relative risk of 15.223 (95 % CI: 11.824-19.598). The relative risk of cholesteatoma in children with 22q11.2DS and cleft palate compared to controls was 39.034 (95 % CI: 26.047-58.496). Even without cleft palate, the relative risk of cholesteatoma in children with 22q11.2DS remained elevated at 11.038 (95 % CI: 8.001-15.227). Conclusion: Our study demonstrates a higher prevalence of cholesteatoma in 22q11.2DS children compared to the general pediatric population. While cleft palate increases the risk of cholesteatoma in these children, the elevated risk persists even in those without cleft palate.