Nursing care in Rett Syndrome. Systematic review [Cuidado de enfermería en el Síndrome de Rett. Revisión sistemática]
DOI:
https://doi.org/10.62574/c5hahw87Keywords:
Rett Syndrome, Genes X-Linked, Cromosoma XAbstract
Objective: to analyse nursing care in Rett Syndrome. Method: Systematic review of 15 articles. Results and conclusion: specialised nursing care requires a comprehensive approach that addresses five main areas: respiratory management, nutrition and feeding, prevention of orthopaedic complications, alternative communication and psychosocial support for carers. Specialised nursing interventions can significantly improve the quality of life of patients with RS and reduce the burden on carers.
Downloads
References
Cabal-Herrera, A. M., & Beatty, C. W. (2024). Síndrome de Rett: desde la fisiopatología a las novedades en el tratamiento [Rett syndrome: from pathophysiology to developments in treatment]. Medicina, 84 Suppl 3, 45–49.
Pantaleón F, G., & Juvier R, T. (2015). Bases moleculares del síndrome de Rett, una mirada actual [Molecular basis of Rett syndrome: A current look]. Revista chilena de pediatria, 86(3), 142–151. https://doi.org/10.1016/j.rchipe.2015.07.001
Arancibia, T., Pardo, R., & Barrientos, P. (2023). Síndrome de Rett, una mirada actual [Rett Syndrome: an updated view]. Andes pediatrica : revista Chilena de pediatria, 94(1), 94–103. https://doi.org/10.32641/andespediatr.v94i1.4014
Pascual-Alonso, A., Martínez-Monseny, A. F., Xiol, C., & Armstrong, J. (2021). MECP2-Related Disorders in Males. International journal of molecular sciences, 22(17), 9610. https://doi.org/10.3390/ijms22179610
Carvalho, M. R., Cavalcante, T. T., Oliveira, P. S., Naves, P. V. F., & Cunha, P. E. L. (2024). Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings. Síndrome de Rett devido a mutação no gene MECP2 e achados eletroencefalográficos. Arquivos de neuro-psiquiatria, 82(8), 1–2. https://doi.org/10.1055/s-0044-1787801
Jara-Ettinger, A. C., Suárez-Hortiales, S., & Torre-García, O. (2021). Síndrome de Rett: reporte de una nueva variante patogénica y revisión de la literatura a propósito de dos casos clínicos [Rett syndrome: report of a new pathogenic variant and review of the literature regarding two clinical cases.]. Boletin medico del Hospital Infantil de Mexico, 78(4), 356–361. https://doi.org/10.24875/BMHIM.20000121
Pascual-Alonso, A., Xiol, C., Smirnov, D., Kopajtich, R., Prokisch, H., & Armstrong, J. (2024). Multi-omics in MECP2 duplication syndrome patients and carriers. The European journal of neuroscience, 60(2), 4004–4018. https://doi.org/10.1111/ejn.16389
España Fuente, L., Méndez Redondo, R. E., & González González, J. L. (2017). Use of Clarus Video System® in expected difficult airway in a patient with Rett syndrome. Uso del Clarus Video System® en una vía aérea difícil en paciente con síndrome de Rett. Revista espanola de anestesiologia y reanimacion, 64(1), 50–54. https://doi.org/10.1016/j.redar.2016.09.003
Aron W, C., Rauch L, G., Benavides G, F., & Repetto L, M. G. (2019). Síndrome de Rett: Análisis molecular del gen MECP2 en pacientes chilenas [Rett Syndrome: MECP2 gene molecular analysis in Chilean patients]. Revista chilena de pediatria, 90(2), 152–156. https://doi.org/10.32641/rchped.v90i2.724
Brito, F., Lagos, C., Cubillos, J., Orellana, J., Gajardo, M., Böhme, D., Encina, G., & Repetto, G. M. (2024). Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis. Frontiers in genetics, 15, 1278198. https://doi.org/10.3389/fgene.2024.1278198
Schwartzman, J. S., Velloso, R.deL., D'Antino, M. E., & Santos, S. (2015). The eye-tracking of social stimuli in patients with Rett syndrome and autism spectrum disorders: a pilot study. Arquivos de neuro-psiquiatria, 73(5), 402–407. https://doi.org/10.1590/0004-282X20150033
Palacios-Ceña, D., Famoso-Pérez, P., Salom-Moreno, J., Carrasco-Garrido, P., Pérez-Corrales, J., Paras-Bravo, P., & Güeita-Rodriguez, J. (2018). "Living an Obstacle Course": A Qualitative Study Examining the Experiences of Caregivers of Children with Rett Syndrome. International journal of environmental research and public health, 16(1), 41. https://doi.org/10.3390/ijerph16010041
Pawliuk, C., Widger, K., Dewan, T., Brander, G., Brown, H. L., Hermansen, A. M., Grégoire, M. C., Steele, R., & Siden, H. H. (2020). Scoping review of symptoms in children with rare, progressive, life-threatening disorders. BMJ supportive & palliative care, 10(1), 91–104. https://doi.org/10.1136/bmjspcare-2019-001943
Güeita-Rodriguez, J., Famoso-Pérez, P., Salom-Moreno, J., Carrasco-Garrido, P., Pérez-Corrales, J., & Palacios-Ceña, D. (2020). Challenges Affecting Access to Health and Social Care Resources and Time Management among Parents of Children with Rett Syndrome: A Qualitative Case Study. International journal of environmental research and public health, 17(12), 4466. https://doi.org/10.3390/ijerph17124466
Nag, N., & Berger-Sweeney, J. E. (2007). Postnatal dietary choline supplementation alters behavior in a mouse model of Rett syndrome. Neurobiology of disease, 26(2), 473–480. https://doi.org/10.1016/j.nbd.2007.02.003
Downloads
Published
Issue
Section
License
Copyright (c) 2024 Nicole Pamela Nuñez-Nuñez, Evelyn Estefanía Guachambala-Masaquiza, Nayely Monserrath Melena-Macas, Michael Alexander Coronel-Pilataxi

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
CC BY-NC-SA : Esta licencia permite a los reutilizadores distribuir, remezclar, adaptar y construir sobre el material en cualquier medio o formato solo con fines no comerciales, y solo siempre y cuando se dé la atribución al creador. Si remezcla, adapta o construye sobre el material, debe licenciar el material modificado bajo términos idénticos.




