CONSTRUCTION OF AN EDUCATIONAL BOOKLET ON FRAGILE X SYNDROME FOR HEALTHCARE PROFESSIONALS

• DOI: https://doi.org/10.22533/at.ed.813452413067

• Palavras-chave: Fragile X Syndrome; Reading Phase Mutation; Genetics.

• Keywords: Fragile X Syndrome; Reading Phase Mutation; Genetics.

• Abstract:

  Introduction: Fragile X syndrome (FXS) occurs due to a mutation in the FMR1 gene — located on the long arm of the X chromosome —, preventing the production of FMRP, a protein that regulates protein synthesis and other signaling pathways in neuronal dendrites. The most frequent symptoms are difficulties with communication, learning and intellect, physical abnormalities, among others. About SFX, symptoms, associated disorders, diagnosis, treatments and discussions about: the importance of the dentistry professional, the value of family and school support with the patient and Fragile X Syndrome in Brazil. Objective: To carry out a literature review with an emphasis on Brazil to create a multidisciplinary booklet on fragile X syndrome for health professionals. Methodology: Search for literary basis in various databases to create the booklet. The inclusion criteria established were qualitative or quantitative articles and books in English or Portuguese between the period 2019 and 2024.

  The established inclusion criteria were theses, dissertations, response letters and editorials. Results: After the review, a booklet in 2-fold folder format was created using CANVA containing the topics: What causes SFX; the symptoms; associated disorders; the diagnosis; treatment; dental perspective; considerations about family and school support; fragile X syndrome in Brazil. Conclusion: The multidisciplinary educational booklet project on Fragile X Syndrome can promote professional training, enabling greater learning among health professionals, allowing for application and dissemination. Subsequently, such work in health education can add value to the diagnosis of FXS, an underreported disease mainly because it is rare and often unknown.