Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1783542995087261696 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7276654 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT toledanoalhadefhagit rolefunctionandchallengesofmultidisciplinarycentresforrarediseasesexemplifiedforneurofibromatosistype1syndrome AT mautnervictorfelix rolefunctionandchallengesofmultidisciplinarycentresforrarediseasesexemplifiedforneurofibromatosistype1syndrome AT gugelisabel rolefunctionandchallengesofmultidisciplinarycentresforrarediseasesexemplifiedforneurofibromatosistype1syndrome AT zipfeljulian rolefunctionandchallengesofmultidisciplinarycentresforrarediseasesexemplifiedforneurofibromatosistype1syndrome AT haasludekarin rolefunctionandchallengesofmultidisciplinarycentresforrarediseasesexemplifiedforneurofibromatosistype1syndrome AT constantinishlomi rolefunctionandchallengesofmultidisciplinarycentresforrarediseasesexemplifiedforneurofibromatosistype1syndrome AT schuhmannmartinu rolefunctionandchallengesofmultidisciplinarycentresforrarediseasesexemplifiedforneurofibromatosistype1syndrome |