This review outlines the complex genetic basis and treatment challenges of Rett syndrome, highlighting physiotherapy's role in care.
Introduction: Rett syndrome is a rare neurodevelopmental condition with a complicated genetic basis that primarily affects girls and does not manifest clinical signs in early infancy. Stereotypical hand movements, decreased gross motor and postural responses, muscle tone disorders, hypersensitivity, and heart dysfunctions are a few of the clinical characteristics. Following the loss of skills, scoliosis, respiratory issues, and convulsions manifest. The minority is concerned about the syndrome's association with autism. Trofinetide is the primary medical treatment; the other treatments are still in the experimental stage. Physical therapy is the primary method of enhancing these children's quality of life in a few ways due to the assault on different bodily systems. Aim: The research's objective is to outline the current body of information regarding Rett syndrome and to enumerate the issues raised by the body of available literature. Method: Using the primary keyword "Rett syndrome," an English-language search was conducted in the Google Scholar, PubMed, and SpringerLink databases. Thirty-six papers of all kinds over the previous five years that satisfied the requirements were chosen. Findings: The treatment is still in its experimental phase, and physiotherapy makes a significant contribution given the wealth of clinical features and impacts on many body systems. Discussion: The differential diagnosis of the condition is as challenging as its refining due to its intricacy. Since physiotherapy follows the standard protocol and its treatment is in an evolutionary stage, it makes sense that more research in all areas is required.
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Chalkia et al. (2025) studied this question.
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