Table 2 Key points of consensus recommendations for optimal interdisciplinary management and healthcare settings for patients with RND
Heading of consensus statements | Key points of the corresponding consensus recommendation |
|---|---|
Structure of the care facility (Statements 1–3) | Specialist out-patient clinics Interdisciplinary and interprofessional care, i.e. joint clinics of neurology / pediatrics / neurosurgery / orthopedics / rehabilitation / occupational therapy and physiotherapy NAMSE and ERN-RND standards should be fulfilled Curriculum for RND including rotations to specialist out-patient clinics |
Ensuring neurological core expertise and core mission (Statements 4–6) | Neurologic and neurogenetic expertise in RND Engagement of medical students / residents |
Composition of the interdisciplinary team (Statements 7–11) | Interdisciplinary and interprofessional team including medicine (neurology, pediatric neurology, neurogenetics, neuropathology, neuroradiology), health care professions (speech therapy, occupational therapy, physiotherapy, (neuro)psychology), specialist nurses, psychosocial/social medical counseling CME and interprofessional education Patient centered approach with involvement of patients' relatives and representatives, and patient organizations; shared decision making Focus on goal-attainment and empowerment Networking with other de-centralized outpatient care (e.g. general practitioners, outpatient physiotherapy practices) including case conferences Availability of digital infrastructure |
Diagnostics (Statements 12–13) | Interdisciplinary and interprofessional internal / regional / national / international case conferences that should be planned and documented according to SOPs Exome sequencing considered genetic analysis of choice; indication should be based on interdisciplinary case conferences with participation of human genetics Neuroradiology with expertise in the field of RND Clear and structured communication of results of diagnostic procedures Diagnostic endeavors targeted to possible therapeutic consequences |
Case conferences (Statements 14–16) | Interdisciplinary and interprofessional case conferences according to SOPs SOPs should be harmonized across centers in the DRN for RND in collaboration with the DASNE Minimum requirements: three different specialties, mandatory participation of neurology Structured case presentations, documentation in the local hospital information / management system Format can be on-site or as video conference that should be easy-to-use and follow European data protection standards Remuneration according to number of disciplines involved External experts should receive personal compensation |
Continuous care and therapy development (Statements 17–22) | Structured and validated information on centers in the Internet Early consultation of RND experts by practicing neurologists / general practitioners through remunerated participation in (online) case conferences that are credited withCME points Reducing budget restrictions for general practitioners for patients with rare diseases Interdisciplinary and interprofessional care networks for specific RND National registries / cohort studies to create trial-ready cohorts National platforms for communication and standardization of individual healing attempts |
Translation (Statements 23–24) | Early diagnosis including newborn screening prerequisite for the development of targeted treatment Identification of biochemical biomarkers and neuroimaging parameters Development of recommendations for clinical description and clinically meaningful and appropriate outcome parameters |
Patient advocacy organizations (Statements 25–27) | Shared informed decisions of treating physicians, affected patients and their families or carers Continuous care by experienced doctors with regular specialized consultations Emergency treatment and inpatient admissions in specialized centers |
Health policy (Statements 28–30) | Expertise based decisions; communication of expertise to political and administrative decision makers with the involvement of patient organizations Across sector-care including cross-sector conferences and patient files with adequate remuneration for participants Interdisciplinary interprofessional care both for children / adolescents and adults. In adults, centers akin to social pediatric centers should be established, which are open for all chronic complex RND and not only for people with intellectual or multiple disabilities |
Exchange and cooperation between rare disease centers and other partners in the health care sector (Statements 31–36) | Cooperation and mutual exchange between ERNs, the DRN, DASNE and non-ERN hospitals as well as patient organizations, e.g. with respect to patient registries Raising awareness for DRN-RND/ DASNE to non-specialist centers / private practices through established periodicals, web sites and educational events Development by the DRN-RND/ DASNE of clear and easy-to-use pathways to access centers for RND for physicians Training courses / CME for non-expert treating physicians, e.g. on the initiation of human genetic diagnostics |
Databases (Statements 37–38) | Documentation of RND in the hospital information system in outpatient and inpatient settings at all care facilities using Orpha codes Uniform data collection of disease-identifying data (e.g. Orpha codes), health status data and disease progression data across all hospital clinical information systems Uniform deep data collection in the centers for RND for the identification of specific groups of RND to facilitate personalized treatment and research |