2025/03/17 by Fraiz, Fabian Calixto, Rafaella Bom Dos Santos Hochulli Schimtz, Pupo, Yasmine Mendes +1
#Fragile X Syndrome #Life Sciences #Martin Bell Syndrome #Medicine and Health Sciences #Oral Health
paper · doi:10.17605/osf.io/b6h48
Objective: This scoping review aims to map the available literature on the oral characteristics of individuals with Fragile X Syndrome (FXS) and identify knowledge gaps. Background: FXS is the most common inherited cause of intellectual disability, characterized by physical, cognitive, and behavioral manifestations. Individuals with FXS frequently present specific oral conditions, including high-arched palate, mandibular prognathism, macroglossia, enamel hypoplasia, malocclusion, and poor oral hygiene. The combination of behavioral challenges and intellectual disability complicates dental care, increasing the risk of severe dental caries and periodontal diseases. Despite its clinical relevance, the oral aspects of FXS remain underexplored in scientific literature. Methodology: The review will follow the JBI methodology for scoping reviews. The research question is structured using the PCC (Population, Concept, Context) framework: Population: Individuals diagnosed with FXS. Concept: Oral health characteristics, including anatomical, functional, and clinical manifestations. Context: No restrictions on geographic, socio-demographic, or cultural settings. A systematic search will be conducted in multiple databases (Scopus, PubMed, BVS/LILACS, ProQuest, Web of Science, and Embase). Study selection will involve title/abstract screening and full-text review by two independent reviewers, with disagreements resolved through consensus. Eligible studies include qualitative and quantitative research, systematic reviews, case reports, and case series. Expected Contributions: This review will provide a comprehensive overview of the oral health characteristics of individuals with FXS, supporting better clinical management and highlighting areas for future research.