Dental and medical features of children with 22q11.2 deletion syndrome

Abstract

Background: The 22q11.2 deletion syndrome (22q11.2DS) affects more than one in 3,000–6,000 live births, leading to various clinical manifestations and oral health issues. Aim: To investigate the dental and medical characteristics of children with 22q11.2DS. Objective: Assess health characteristics of 22q11.2DS subjects to identify their healthcare needs and enhance dental service at the Evelina London Cleft Service. Methods: Retrospective service evaluation of subjects with 22q11.2DS known to the Evelina London Cleft Service in the United Kingdom. Results: Thirty-five subjects who accessed the cleft service were analysed, the mean age was 8.08 years (SD=4.37), with females constituting the majority (20/35). The most common diagnosis was non-cleft velopharyngeal dysfunction (22/35), followed by submucous cleft palate (7/35) and cleft palate only (6/35). Regarding congenital heart defects (16/35) were affected. Dental evaluations showed (17/35) had caries, with average dmft/DMFT scores of 1.94 and 0.8, respectively, similar to Evelina London cleft centre CRANE 2023 dmft data for 5-year-olds. We noted an unexpected lack of documentation on several vital areas, like subjects' registration with general dental practitioners and preventive dental practices. Common dental anomalies included hypomineralisation (10/35), supernumerary teeth (2/35), and hypoplasia (2/35). Most patients (27/35) needed preventive care, (8/35) needed restorative care, and (12/35) required comprehensive care under general anaesthesia. In our sample of children (18/35) were from deprived areas, traveling an average distance of 33.8 miles to access services. Conclusion: In this sample of 22q11.2DS children, subjects had higher medical and dental needs, and almost half of the sample were from deprived areas. Their caries risk was the same as other cleft children without 22q11.2DS. Recommendations: Integrate specific templates into the EPIC hospital system for improved data capture and employ dental nurses specialised in oral health promotion at MDT clinics for comprehensive preventive care. These strategies ensure accurate documentation, optimise patient care, and ultimately enhance health outcomes, aligning with the goals of the service evaluation.