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A Comprehensive Approach to Rehabilitation Interventions in Patients with Angelman Syndrome: A Systematic Review of the Literature

Angelman syndrome is a rare genetic disease affecting the central nervous system and neurobehavioral development causing severe mental, linguistic, and physical disabilities. The purpose of this review was to analyze the most recent evidence regarding the rehabilitation of subjects affected by this...

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Autores principales: Sommese, Maddalena, Corrado, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395863/
https://www.ncbi.nlm.nih.gov/pubmed/34449677
http://dx.doi.org/10.3390/neurolint13030036
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author Sommese, Maddalena
Corrado, Bruno
author_facet Sommese, Maddalena
Corrado, Bruno
author_sort Sommese, Maddalena
collection PubMed
description Angelman syndrome is a rare genetic disease affecting the central nervous system and neurobehavioral development causing severe mental, linguistic, and physical disabilities. The purpose of this review was to analyze the most recent evidence regarding the rehabilitation of subjects affected by this syndrome. The review was carried out in accordance with the preferred reporting items for systematic reviews and meta-analyses. A total of 3661 studies were identified in the databases. Once the inclusion/exclusion criteria were applied, 15 studies were considered for the paper’s preparation. The level of evidence of the studies was established according to the criteria of the Oxford Center for Evidence-Based Medicine—Levels of Evidence. From the selected studies, five rehabilitative approaches emerged: physiotherapy, applied behavioral analysis, toilet training, microswitch-cluster technology, and augmentative and alternative communication. Although the studies did not have a high level of evidence, the reported results appear to be encouraging and pave the way for further studies. It seems that individualized and multidisciplinary rehabilitation interventions help to improve patients’ autonomy and quality of life. In some studies, the caregivers’ role was fundamental to identify preferences and long-term improvements. Further studies on larger populations and with better methodological quality are needed to confirm the results.
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spelling pubmed-83958632021-08-28 A Comprehensive Approach to Rehabilitation Interventions in Patients with Angelman Syndrome: A Systematic Review of the Literature Sommese, Maddalena Corrado, Bruno Neurol Int Review Angelman syndrome is a rare genetic disease affecting the central nervous system and neurobehavioral development causing severe mental, linguistic, and physical disabilities. The purpose of this review was to analyze the most recent evidence regarding the rehabilitation of subjects affected by this syndrome. The review was carried out in accordance with the preferred reporting items for systematic reviews and meta-analyses. A total of 3661 studies were identified in the databases. Once the inclusion/exclusion criteria were applied, 15 studies were considered for the paper’s preparation. The level of evidence of the studies was established according to the criteria of the Oxford Center for Evidence-Based Medicine—Levels of Evidence. From the selected studies, five rehabilitative approaches emerged: physiotherapy, applied behavioral analysis, toilet training, microswitch-cluster technology, and augmentative and alternative communication. Although the studies did not have a high level of evidence, the reported results appear to be encouraging and pave the way for further studies. It seems that individualized and multidisciplinary rehabilitation interventions help to improve patients’ autonomy and quality of life. In some studies, the caregivers’ role was fundamental to identify preferences and long-term improvements. Further studies on larger populations and with better methodological quality are needed to confirm the results. MDPI 2021-07-28 /pmc/articles/PMC8395863/ /pubmed/34449677 http://dx.doi.org/10.3390/neurolint13030036 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Sommese, Maddalena
Corrado, Bruno
A Comprehensive Approach to Rehabilitation Interventions in Patients with Angelman Syndrome: A Systematic Review of the Literature
title A Comprehensive Approach to Rehabilitation Interventions in Patients with Angelman Syndrome: A Systematic Review of the Literature
title_full A Comprehensive Approach to Rehabilitation Interventions in Patients with Angelman Syndrome: A Systematic Review of the Literature
title_fullStr A Comprehensive Approach to Rehabilitation Interventions in Patients with Angelman Syndrome: A Systematic Review of the Literature
title_full_unstemmed A Comprehensive Approach to Rehabilitation Interventions in Patients with Angelman Syndrome: A Systematic Review of the Literature
title_short A Comprehensive Approach to Rehabilitation Interventions in Patients with Angelman Syndrome: A Systematic Review of the Literature
title_sort comprehensive approach to rehabilitation interventions in patients with angelman syndrome: a systematic review of the literature
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395863/
https://www.ncbi.nlm.nih.gov/pubmed/34449677
http://dx.doi.org/10.3390/neurolint13030036
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