key: cord-0893215-w7exjk2j authors: Toledano-Alhadef, Hagit; Mautner, Victor-Felix; Gugel, Isabel; Zipfel, Julian; Haas-Lude, Karin; Constantini, Shlomi; Schuhmann, Martin U. title: Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome date: 2020-06-08 journal: Childs Nerv Syst DOI: 10.1007/s00381-020-04708-1 sha: 84df2eea93e383038af5f89f94b67f12ae70c3c5 doc_id: 893215 cord_uid: w7exjk2j 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. 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] . 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 approach with regard to diagnostics, clinical management and research. The authors reviewed the literature concerning the multiple aspects of multidisciplinary clinics and teamwork. They then supplied a description of the existing solutions and approaches in their NF centres and raised issues and suggestions in an effort to set out and determine what could be a better way of applying and conveying the standard of care that should be recommended for a tertiary Multidisciplinary Team clinic (MDT) in NF1 syndrome. Demands for a neurofibromatosis (NF1) centre NF1 syndrome, classically seen as a genetically driven tumour predisposition syndrome of the central and peripheral nervous system, is in fact a complex multi-system disease that leads, apart from the formation of tumours, to many other impairments, including cognition, bone metabolism, endocrinology and skin affection, and requires intense interdisciplinary cooperation between clinical physicians and scientists from many disciplines (e.g. neurology, dermatology, several surgical disciplines, paediatrics, psychology, neuroradiology, ophthalmology, ear, nose, throat (ENT). This wide variety of manifestations [5, 6] results in immense importance and demand for multidisciplinary treatment and follow-up. Children with NF1 and quite often also some members of their family need regular medical follow-up with regard to all specific manifestations of the disease, thus necessitating multiple healthcare professionals' attention. In chronic diseases, clinical as well as self-well-being considerations should be addressed simultaneously. Observations from medical fields exist, e.g. the 'Rural Australian Diabetes -Inspiring Control Activity & Lifestyle' model [7] . This model, called 'RADICAL' comprised of a locally based, co-located core team of a general paediatrician, diabetes educator and mental health nurse. Consultation behaviour, including personality expression and team interaction, was an important part of the success of the RADICAL model. The paediatrician no longer carried the sole burden of management, leading to a change in consultation behaviour. [7] . In the authors opinion, the following demands should be met by a centre for neurofibromatosis (and other centres for rare diseases): & Establishment of a treatment and research centre for neurofibromatosis as a coordinating lead centre. & Implementation of diagnostic and therapeutic standards for the qualitative diagnosis and treatment of neurofibromatosis. In the following, three models of inter-and multidisciplinary care for children and adolescents (and adults) are described as possible exemplary solutions to meet the named demands for centres. Furthermore, the lessons learnt from the experiences made are discussed, which may differ according to the centre, the society and the local health systems in question. The experience at the Gilbert Israeli and International Neurofibromatosis Centre 1. Patients are referred to the GIINFC from all over Israel by paediatricians, paediatric neurologists and adult physicians. The clinic provides multidisciplinary and multispecialized consultations and advanced treatments focused on NF1 syndrome. All clinical appointments with the child and its family take place in a multidisciplinary setting with a social worker and a psychologist attending each formal medical visit. 2. The multidisciplinary team of the GIINFC holds meetings twice a month and includes all the caretakers of adults and children involved such as paediatric and adult neurologists, neurosurgeons, an ophthalmologist, orthopaedics, oncologists, a geneticist and a radiologist. Other specialists are added, if needed. This setup enables a continuous flow of information and familiarity with each patient and his family among all the interdisciplinary staff. This physical proximity of multiple professionals under one roof in one hospital segment enables smoother and more accurate communication and delivery of care to the patient and his family. 3. The GIINFC provides greater access to families who have several members with NF1 syndrome to the multidisciplinary team by enabling single day coordinated visits, both by paediatric and adult neurologists. 4. The GIINFC includes children and adult clinics under the same roof. This enables the team to provide comprehensive and continuous care to children (< 18 years) and adults (> 18 years) implementing a unique model of transition for adolescents and young adults. This setup allows a smooth transition from the paediatric clinic to the adult section, as the young adult moves from the paediatric to the adult neurologist, with no changes among the rest of the staff, and thus avoiding gaps of medical care. 5. The patient has one point of contact, is accompanied by the social worker and the psychologist throughout the whole treatment and receives emotional support in case of difficulties. At the same time, the family of the adolescent gradually redefines its role in the caretaking process. 6. Clinical research has focused on optic pathway gliomas, imaging nuances including volumetrics, cognitive aspects and psychological implications. Chronic diseases mandate long-term follow-up often by several disciplines, both medical and non-medical. There is consensus among headache specialists, for example that a multidisciplinary treatment/team approach to treating refractory headaches has advantages and results in better outcomes [8] . The multidisciplinary model of care is defined as a range of healthcare professionals working independently, but in a coordinated manner to improve outcomes especially for chronic diseases [9] . Rare diseases are increasingly recognized as the orphans of medicine and have lately received special attention in Western societies. NF1 syndrome is a perfect example of the multidimensional aspects from birth to late adulthood due to the complexity of many possibly affected systems, the very individual disease burden even in genetically identical twins [10] [11] [12] [13] and within families, and finally the limited knowledge of the disease specificities by general practitioners and paediatricians. Specialists in private practices or in hospitals almost always only see 'their' part of the disease according to their specialization, but not the whole picture. A recent report has stressed the importance of MDT work in neurocutaneous syndromes, and especially in NF1 syndrome, and emphasized the challenges of close surveillance of potential clinical complications even in the given multidisciplinary outpatient clinic [14] . Focusing patients in centres, which can have all kinds of different organizational forms as outlined by the three examples described by the authors of this manuscript, seems mandatory for coping with as many aspects of the disease as possible. None of the three examples is perfect and all organizational forms have their shortcomings and their individual history of development in their given environment. They are, however, similar in their bottom-line approach: primarily, to be open to all affected patients and families to describe and identify the individual disease burden. Secondarily, in case a complex manifestation exists, to address it with the power of an organizational network that should not only cover the patient but also his family and social network. Regarding the care of children and adolescents, the familycentred care approach (FCCA) is widely used in healthcare centres and recognized as an approach that can improve the effectiveness and efficiency of health services, in particular in paediatric rehabilitation centres [15] . In different chronic conditions, there is a growing understanding that a whole family approach should be implemented in order to address all the needs of the patient and the family. The provision of familycentred services emphasizes a partnership between parents and service providers so that families are involved in every aspect of services for their child [16] . Regarding clinical research in rare diseases, only the concentration of patients in centres allows access to larger cohorts of patients. Furthermore, academic affiliation offers a better opportunity to concentrate the expertise of university hospitals facilities and research institutions on rare diseases and to overcome the lack of public interest in a rare disease problem, especially if other, more obvious health issues of society are still not being sufficiently approached. Furthermore, rare diseases mandate national and international cooperation for clinical and research projects, as exemplified by the European Reference Networks (ERN) for NF, e.g. the GENTURIS network for rare genetic tumour risk syndromes (www.genturis.eu). On the other hand, it seems reasonable that NF1 centres should dichotomize patients into a high disease burden and a complex disease pattern group, and a group manifesting milder aspects of the syndrome. The first group needs regular visits and full attention of centre opportunities and possibilities, while for the second, the centre should provide the primary caregivers with a written guideline for the necessary items of disease monitoring and a list of unnecessary investigations, for example yearly routine head MRI scans in children. NF1 centres thus carry the responsibility for teaching general practitioners, neurologists, paediatricians, dermatologists, specialists in private practice and in hospitals alike, with regard to the needs and requirements of a rare disease like NF1 syndrome. This can be done, for example by establishing national guidelines and standard operating procedures (SOPs) for diagnosis and treatment as recently demonstrated by the French National Guidelines for NF1 syndrome [17] , an excellent example made available to a whole country but also to other nations and centres. Academies for teaching colleagues in a clinical setting need also to reach out to the education of patients and parents, in their language regarding their issues and needs. In the past, the focus has been on regional or national meetings for both groups, still leaving much room for improvement in most of our societies. Given that MDT meetings utilize considerable time, effort and financial resources [18, 19] , emphasis should be placed on whether there is a need for quantifying the value of a multidisciplinary clinic. It is essential to recognize the importance of enhanced quality of care provided and the ability to participate in translational research filling the gaps in knowledge. Data available regarding integrated healthcare models suggest improved treatment outcomes and reduced healthcare costs [20] . To date, these models include primary care physicians and behavioral health specialists working together often on a referral basis. These models, however, fall short in real-time coordination of care in which specialists see the patient during the same clinic visit [21] . Several reports have described the MTD clinics before [22] and tried to outline the structure and function of such clinics in order to improve patient outcomes, but significant heterogeneity exists in such clinics with regard to team composition, entry criteria, follow-up and a variability of processes. Therefore, this work is in need of standardization. In addition, the SARS-CoV-2 pandemic has taught us that digital education formats like webinars, video conferences and live streams will need to be developed to continue and possibly enhance the educational efforts for improving the care of NF1 syndrome and other rare diseases. The power of digital education and data conveying has to be strapped-on to the future needs of working remotely. This special issue of the Child's Nervous System is another attempt to improve the care of children with phacomatoses by providing a comprehensive collection of educative reviews and research papers. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment Precise localization of NF1 to 17q11.2 by balanced translocation Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought Schwannomatosis: a genetic and epidemiological study Neurofibromatosis type 1: a multidisciplinary approach to care Guidelines for the diagnosis and management of individuals with neurofibromatosis 1 A ' radical ' new rural model for pediatric diabetes care Multidisciplinary team treatment approaches to chronic daily headaches The role of patient care teams in chronic disease management Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1 Congenital glaucoma and neurofibromatosis in a monozygotic twin: case report and review of literature Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1 Variable expression of neurofibromatosis 1 in monozygotic twins Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience Perceptions of a multidisciplinary team regarding a pediatric rehabilitation modified needs assessment Factors affecting family-centred service delivery for children with disabilities Neurofibromatosis 1 French national guidelines based on an extensive literature review since The impact of multidisciplinary team meetings on patient assessment, management and outcomes in oncology settings: a systematic review of the literature Multidisciplinary team working in cancer: what is the evidence? Collaborative care management of late-life depression in the primary care setting: a randomized controlled trial A multidisciplinary approach to the clinical management of Prader-Willi syndrome Multidisciplinary chronic kidney disease clinic practices: a scoping review Publisher's note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations Acknowledgements The authors would like to thank Monique Ben-Am for editorial assistance. Conflict of interest On behalf of all authors, the corresponding author states that there is no conflict of interest.