Keywords
Developmental Disabilities
Rett Syndrome
Quality of Life
Neurodevelopmental Disorders
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Abstract
Objective: To analyze the complexity of Rett Syndrome (RTT), encompassing its pathophysiology and available therapies. Methods: This is an integrative literature review, with searches in the PubMed and SciELO databases using the descriptors "Rett Syndrome”, "therapeutic interventions," "neuropediatrics", "cognitive development”, "motor development” and "quality of life” combined with the Boolean operators "AND" and "OR”. The clinical question used was: “How can Rett Syndrome and its therapeutic interventions influence neurodevelopment and the quality of life of patients affected by this syndrome?”. Articles in English, Portuguese and Spanish, with open access, published between 2019 and 2024 were included. Results: The final sample consisted of 20 articles that met the inclusion and exclusion criteria and were relevant to the RS topic. Analysis of the results revealed that a range of pharmacological and non-pharmacological treatments showed positive outcomes in reducing RTT symptoms. Conclusions: RTT is a severe and rare neurodevelopmental disorder caused by a mutation in the MECP2 gene on the X chromosome, primarily affecting girls. Therefore, therapy is multidisciplinary, and due to the scarcity of scientific research, there is no specific therapy.
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