Alteraciones del desarrollo psicomotor en pacientes con Síndrome de Rett y su abordaje: una revisión sistemática

Cristina Diarte Benítez; Mónica Romero Díez; Lucas Basanta Pascual; Paula Mª Cucharero Cañadas; Ana Cervera Gabino

doi:10.58807/garnata20257941

Cristina Diarte Benítez Facultad de Ciencias de la Salud, Universidad de Granada. Granada, España
Mónica Romero Díez Facultad de Ciencias de la Salud, Universidad de Granada. Granada, España
Lucas Basanta Pascual Facultad de Ciencias de la Salud, Universidad de Granada. Granada, España
Paula Mª Cucharero Cañadas Facultad de Ciencias de la Salud, Universidad de Granada. Granada, España
Ana Cervera Gabino Facultad de Ciencias de la Salud, Universidad de Granada. Granada, España

DOI: https://doi.org/10.58807/garnata20257941

Palabras clave: Síndrome de Rett, Enfermedades raras, Enfermería, Trastorno psicomotor

Key-words: Rett syndrome, Rare diseases, Nursing, Psychomotor disorders

Resumen

El Síndrome de Rett es una enfermedad rara del neurodesarrollo que afecta a 1/10.000 habitantes, causada por una mutación genética en el cromosoma X. Los síntomas aparecen en los primeros 18 meses e incluyen problemas motores, pérdida del lenguaje, retraimiento social, déficit cognitivo y ciertas comorbilidades. El objetivo es conocer las alteraciones motoras y las intervenciones que se llevan a cabo. Para ello se siguió el protocolo PRISMA y la búsqueda en las bases de datos PubMed, WOS, Eureka y Scopus, consiguiendo finalmente 23 artículos. Los resultados más relevantes son que la información encontrada es insuficiente y desactualizada, que los síntomas dependerán de cada paciente y que los mejores resultados se obtienen con ciertas terapias específicas. No tiene tratamiento curativo, y por ello es esencial el tratamiento sintomático y el trabajo que realiza enfermería, con el fin de mejorar la calidad de vida de los pacientes y su entorno.

Abstract

Rett Syndrome is a rare neurodevelopmental disorder that affects 1 in 10,000 individuals, caused by a genetic mutation on the X chromosome. Symptoms appear within the first 18 months and include motor problems, loss of acquired language, social withdrawal, cognitive deficits, and certain comorbidities. The objective is to understand the motor alterations and the interventions that are carried out. To achieve this, the PRISMA protocol was carried out, and searches were conducted in the databases PubMed, WOS, Eureka, and Scopus, ultimately resulting in 23 articles. The most relevant findings indicate that the information available is insufficient and outdated, that symptoms will vary from patient to patient, and that the best results are obtained with certain specific therapies. There is no curative treatment, and therefore, symptomatic treatment and the work of nursing are essential to improve the quality of life for patients and their environment.

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Alteraciones del desarrollo psicomotor en pacientes con Síndrome de Rett y su abordaje: una revisión sistemática

Psychomotor development disorders in patients with Rett Syndrome and their management: a systematic review

Resumen

Abstract

Bibliografía