22q11.2 Deletion Syndrome, Oral-Maxillo-Facial Manifestations and Cognitive Functioning: Three Illustrative Case Reports

TL;DR

This paper presents three case reports of children with 22q11.2 deletion syndrome, highlighting dental issues and neuropsychiatric comorbidities, and emphasizes the need for early, multidisciplinary care.

Contribution

The paper contributes three illustrative clinical cases that reinforce the importance of dental and mental health management in 22q11.2 deletion syndrome.

Findings

All children with 22q11.2 deletion syndrome had a history of dental caries.

Enamel hypomineralization was observed in two-thirds of the cases.

Each case had at least one pediatric neuropsychiatric comorbidity.

Abstract

What are the main findings?
All children with 22q11.2 deletion syndrome consistently exhibited a history of dental caries, and enamel hypomineralization was observed in two-thirds (two out of three) of the reported cases.In all reported cases, there was at least one pediatric neuropsychiatric comorbidity.

All children with 22q11.2 deletion syndrome consistently exhibited a history of dental caries, and enamel hypomineralization was observed in two-thirds (two out of three) of the reported cases.

In all reported cases, there was at least one pediatric neuropsychiatric comorbidity.

What are the implications of the main findings?
Following an improvement in the medium- to long-term prognosis of patients with 22q11.2 DS, the implementation of early and multidisciplinary care pathways is essential.There is a clear need for targeted awareness and support programs on dental hygiene and mental health for individuals and families affected by 22q11.2 deletion syndrome.

Following an improvement in the medium- to long-term prognosis of patients with 22q11.2 DS, the implementation of early and multidisciplinary care pathways is essential.

There is a clear need for targeted awareness and support programs on dental hygiene and mental health for individuals and families affected by 22q11.2 deletion syndrome.

Background: 22q11.2 deletion syndrome (22q11.2 DS) is a rare genetic syndrome characterized by high phenotypic variability, with an incidence of approximately 1:4000 live births. Most of the existing literature consists of case reports or case series, making it challenging to obtain large cohorts for data comparison and drawing generalizable conclusions. Aim: The aim of this article is to share the clinical experience of patients with 22q11.2 DS who were previously evaluated by Child Neuropsychiatry and underwent odontoiatric procedures at the Dental Unit of the Policlinico di Bari. Methods: We report three clinical cases of pediatric patients with 22q11.2 DS who were managed at the University Dental Unit of the Policlinico di Bari for dental procedures, including pre/post-treatment images and child neuropsychiatric characteristics. Results: Cleft lip and cleft palate are the most commonly encountered facial malformations. Enamel hypoplasia and hypomineralizations, caries, dental agenesis, and hypodontia are reported with variable frequency in almost all studies considering the oral health of these patients. Our experience is coherent with the data present at the moment. The clinical examinations showed diffuse hypomineralization and several caries, concordant with the literature. One patient received moderate sedation and another received general anesthesia; oral prophylaxis, fluoride application, pulp therapy, extractions of hopeless teeth and restorations of carious and hypomineralized teeth were performed. Conclusions: 22q11.2 DS is a genetic condition with a variable prognosis, but current trends show that patients often reach adulthood, primarily due to advancements in cardiology, which was previously the leading cause of mortality in these patients. From this perspective, collaboration among various medical specialties is crucial to implement holistic patient management programs and early interventions.

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