Síndrome de Rett en niñas

Abstract

Introduction: Rett Syndrome is a degenerative and progressive genetic disorder that disrupts neurological, motor, and developmental functions. This condition is more predominant in girls; however, it does not exclude boys from experiencing this syndrome. Objective: To analyze scientific evidence related to Rett Syndrome in girls. Method: This research is structured through the search, review, and analysis of scientific articles from journals indexed in databases such as SciELO, Redalyc, Dialnet, Scopus, Medigraphic, PubMed, MEDLINE, and Biomed using keywords such as "Rett Syndrome," "Prevalence," "Stages," "Complications," and "Nursing Care". Results: Rett Syndrome is considered worldwide as the second leading cause of neurological disability, with 90% of cases having a genetic origin and an incidence in approximately 40 countries, especially in females, specifically in early childhood. The primary predisposing factor for this syndrome is the genetic mutation of the MECP2 gene. The most frequent complications occur at the neurological, cardiovascular, respiratory, gastric, renal, motor, and psychopedagogical levels, impacting the lifestyle of the patients. Conclusion: As a syndrome affecting neurological development, it entails certain complications in girls that result in an impact on their organs, systems, and bodily functions. Nursing personnel must have adequate and up-to-date knowledge regarding Rett Syndrome to provide specialized care, thereby improving the patients’ quality of life. Keywords: According to the Health Sciences Descriptors (DeCS), the following will be included: Rett Syndrome, Prevalence, Complications, Associated Factors, Nursing Care.