FRAGILE X SYNDROME: A BRIEF LITERATURE REVIEW Stella Rodriguez Dela Cort

Abstract

Fragile X syndrome is a genetic disorder that mainly affects males and is considered the second most common genetic cause of intellectual disability, after Down syndrome. Hereditary is the most common. It is estimated that for every 4.000 live-born males, one is a carrier of the syndrome, and for every 8.000 live-born females, one is affected. Although not specified, many physical and cognitive changes may be associated with the syndrome, including intellectual disability, facial dysmorphisms, and behavioral changes. The aim of this study was to briefly review the available literature on Fragile X Syndrome. Therefore, this study does not require approval from the Research Ethics Committee as it is a literature review. Comprehensive literature searches were conducted in databases: SCIELO (Scientific Electronic Library Online), PUBMED/MEDLINE (Medical Literature Analysis), and Google Scholar, using keywords. It is of paramount importance to diagnose the syndrome as early as possible, as it has no cure, so that the patient can receive the necessary treatment and care aimed at improving quality of life and prolonging lifespan. Genetic counseling is often recommended to prevent future occurrences of the syndrome.