Actualización de diagnóstico y tratamiento de síndrome de RETT. Revisión sistemática

Rett syndrome (RS) is an uncommon neurological disorder that affects almost exclusively girls, with an estimated incidence of 1 per 10,000–15,000 live female births. Over 95% of cases are diagnosed in early childhood (6–24 months), presenting with progressive loss of motor, cognitive, and communication abilities, which significantly impacts quality of life and functional prognosis. Objective: To summarize current evidence on diagnostic methods and therapeutic options for RS, aimed at improving the quality of life of pediatric patients. Methods: A systematic review was conducted following PRISMA 2020 guidelines. Articles published between 2019 and 2024 in English and Spanish were included, retrieved from PubMed, Scopus, ScienceDirect, Scielo, Taylor & Francis, Cochrane, and UpToDate. Study quality and risk of bias were assessed using the CASP tool. Results: From 112 initial records, 25 studies were included (22.3%), involving approximately 512 pediatric patients (98% female). Regarding diagnosis, 64% of studies highlighted clinical scales such as the Rett Syndrome Behaviour Questionnaire (RSBQ) and the Clinical Global Impression-Improvement (CGI-I), while 36% emphasized electrophysiological and molecular approaches, including resting EEG and patch-clamp. In treatment, 48% of studies reported ≥40% reduction in seizure frequency with cannabinoids (CBDV, CBD); 28% demonstrated benefits of botulinum toxin for hypersalivation and spasticity; and 24% documented improvements with trofinetide in social communication and adaptive function. Conclusions: Evidence indicates that combining advanced diagnostic tools with emerging therapies (CBDV, CBD, BTX, trofinetide) provides measurable improvements in symptom control and functionality. These findings support the implementation of standardized multimodal protocols, fostering personalized and pediatric-centered management strategies.