Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 sy
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ANNUAL ISSUE PAPER
Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome Hagit Toledano-Alhadef 1,2,3 & Victor-Felix Mautner 4 & Isabel Gugel 5,6 & Julian Zipfel 5,6,7 & Karin Haas-Lude 5,8 & Shlomi Constantini 1,3,9 & Martin U. Schuhmann 5,6,7 Received: 13 May 2020 / Accepted: 26 May 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract 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. Keywords Neurofibromatosis type 1 . Orphan disease . Multidisciplinary Team
Introduction Neurofibromatosis type 1 (NF1) syndrome is the classical model of a chronic and complex genetically determined condition necessitating a life-long multidisciplinary healthcare approach. It is, although a rare disease according to the definition, a relatively common inherited disorder occurring with a birth incidence of approximately one in 2500–3000 individuals [1]. It is caused by an autosomal dominant mutation in the neurofibromin gene located on chromosome 17 [2].
* Shlomi Constantini [email protected] 1
2
Gilbert Israeli and International Neurofibromatosis Centre, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel Paediatric Neurology and Child Development Center, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Centre, Tel Aviv, Israel
3
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
4
International Neurofibromatosis Centre, Department of Neurology, University Hospital Hamburg Eppendorf, Hamburg, Germany
Neurofibromatosis type 2 (birth incidence of approximately one in 25,000) [3, 4] and the relatively recently established ‘young’ entity schwannomatosis (with a prevalence of 1:126,000) [4] are rarer, although schwannomatosis in particular is suspected to have a high number of unreported cases with a frequently oligosymptomatic course, which is also reflected in the rising incidence figures. This paper suggests the NF1 syndrome to serve as an example of a complex multidimensional paediatric rare disease and elaborates on the challenges posed by the necessary multidisciplinary a
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