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Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome

PURPOSE: Neurofibromatosis type 1 (NF1) syndrome is a common rare/orphan disease that manifests itself early in the paediatric age. It imposes a considerable burden upon patients as well as on caregivers. Decisions regarding optimal care often rely on several medical instances working together as a...

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Autores principales: Toledano-Alhadef, Hagit, Mautner, Victor-Felix, Gugel, Isabel, Zipfel, Julian, Haas-Lude, Karin, Constantini, Shlomi, Schuhmann, Martin U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276654/
https://www.ncbi.nlm.nih.gov/pubmed/32514759
http://dx.doi.org/10.1007/s00381-020-04708-1
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author Toledano-Alhadef, Hagit
Mautner, Victor-Felix
Gugel, Isabel
Zipfel, Julian
Haas-Lude, Karin
Constantini, Shlomi
Schuhmann, Martin U.
author_facet Toledano-Alhadef, Hagit
Mautner, Victor-Felix
Gugel, Isabel
Zipfel, Julian
Haas-Lude, Karin
Constantini, Shlomi
Schuhmann, Martin U.
author_sort Toledano-Alhadef, Hagit
collection PubMed
description PURPOSE: Neurofibromatosis type 1 (NF1) syndrome is a common rare/orphan disease that manifests itself early in the paediatric age. It imposes a considerable burden upon patients as well as on caregivers. Decisions regarding optimal care often rely on several medical instances working together as a team. METHODS: The authors reviewed the literature and supplied a description of their own clinical work at the NF1 centres. RESULTS: The experience of a multidisciplinary teamwork of three NF centres was summarized in order to enhance awareness for possible multidisciplinary ways of delivery of health and health-related aspects of care to NF1 patients. Both population-focused research centres and family-focused centres were reviewed. CONCLUSIONS: Chronic rare diseases that start in the paediatric age mandate long-term follow-up most often by several disciplines. NF1 syndrome is an example of a multidisciplinary centre in order to enhance the quality of care.
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spelling pubmed-72766542020-06-08 Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome Toledano-Alhadef, Hagit Mautner, Victor-Felix Gugel, Isabel Zipfel, Julian Haas-Lude, Karin Constantini, Shlomi Schuhmann, Martin U. Childs Nerv Syst Annual Issue Paper PURPOSE: Neurofibromatosis type 1 (NF1) syndrome is a common rare/orphan disease that manifests itself early in the paediatric age. It imposes a considerable burden upon patients as well as on caregivers. Decisions regarding optimal care often rely on several medical instances working together as a team. METHODS: The authors reviewed the literature and supplied a description of their own clinical work at the NF1 centres. RESULTS: The experience of a multidisciplinary teamwork of three NF centres was summarized in order to enhance awareness for possible multidisciplinary ways of delivery of health and health-related aspects of care to NF1 patients. Both population-focused research centres and family-focused centres were reviewed. CONCLUSIONS: Chronic rare diseases that start in the paediatric age mandate long-term follow-up most often by several disciplines. NF1 syndrome is an example of a multidisciplinary centre in order to enhance the quality of care. Springer Berlin Heidelberg 2020-06-08 2020 /pmc/articles/PMC7276654/ /pubmed/32514759 http://dx.doi.org/10.1007/s00381-020-04708-1 Text en © Springer-Verlag GmbH Germany, part of Springer Nature 2020 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.
spellingShingle Annual Issue Paper
Toledano-Alhadef, Hagit
Mautner, Victor-Felix
Gugel, Isabel
Zipfel, Julian
Haas-Lude, Karin
Constantini, Shlomi
Schuhmann, Martin U.
Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome
title Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome
title_full Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome
title_fullStr Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome
title_full_unstemmed Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome
title_short Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome
title_sort role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome
topic Annual Issue Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276654/
https://www.ncbi.nlm.nih.gov/pubmed/32514759
http://dx.doi.org/10.1007/s00381-020-04708-1
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