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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorTumiene, Birute
dc.contributor.authordel Toro Riera, Mireia
dc.contributor.authorGrikiniene, Jurgita
dc.contributor.authorSamaitienė, Rūta
dc.contributor.authorPraninskiene, Ruta
dc.contributor.authorMonavari, Ahmad Ardeshir
dc.contributor.authorSykut-Cegielska, Jolanta
dc.date.accessioned2022-08-18T11:22:35Z
dc.date.available2022-08-18T11:22:35Z
dc.date.issued2022-03-25
dc.identifier.citationTumienė B, Del Toro Riera M, Grikiniene J, Samaitiene-Aleknienė R, Praninskienė R, Monavari AA, et al. Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives. J Multidiscip Healthc. 2022 Mar 25;15:553–66.
dc.identifier.issn1178-2390
dc.identifier.urihttp://hdl.handle.net/11351/8017
dc.descriptionIntegrated care; Management of emergencies
dc.description.abstractMore than 650 inherited metabolic diseases may present with epilepsy or seizures. These diseases are often multisystem, life-long and induce complex needs of patients and families. Multidisciplinary care involves all stages of disease management: diagnostics, specific or symptomatic, acute and chronic treatments, and integrated care that takes into account not only medical, but also manifold psychosocial, educational, vocational and other needs of patients and their caregivers. Care coordination is indispensable to ensure smooth transitions of care across life and disease stages, including management of emergencies, transition from pediatric to adult services and palliative care. Care pathways are highly diverse and have to find the right balance between highly specialized and locally provided services. While multidisciplinary teams consist of many professionals, a named supervising physician in a highly specialized healthcare setting and a care coordinator are highly important. As the greatest burden of care always falls onto the shoulders of patients and/or families, patient empowerment should be a part of every care pathway and include provision of required information, involvement into common decision-making, patient’s and family’s education, support for self-management, liaison with peer support groups and emotional/ psychological support. Due to the rarity and complexity of these diseases, sufficient expertise may not be available in a national healthcare system and cross-border services (virtual or physical) in the recently developed European Reference Networks should be ensured through the proper organization of referral systems in each EU and EEA country. Finally, digital technologies are particularly important in the provision of services for patients with rare diseases and can significantly increase the availability of highly specialized services and expertise.
dc.language.isoeng
dc.publisherDove Press
dc.relation.ispartofseriesJournal of Multidisciplinary Healthcare;15
dc.rightsAttribution-NonCommercial 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.sourceScientia
dc.subjectMetabolisme - Trastorns - Tractament
dc.subjectPediatria
dc.subjectEpilèpsia
dc.subject.meshMetabolic Diseases
dc.subject.mesh/therapy
dc.subject.meshPediatrics
dc.subject.meshEpilepsy
dc.titleMultidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.2147/JMDH.S251863
dc.subject.decsenfermedades metabólicas
dc.subject.decs/terapia
dc.subject.decspediatría
dc.subject.decsepilepsia
dc.relation.publishversionhttp://dx.doi.org/10.2147/JMDH.S251863
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Tumienė B] Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania. Vilnius University Hospital Santaros klinikos, Vilnius, Lithuania. [Del Toro Riera M] Servei de Neurologia Pediàtrica, Unitat de Malalties Metabòliques Hereditàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Grikiniene J, Samaitiene-Aleknienė R, Praninskienė R] Clinic of Children’s Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania. [Monavari AA] National Centre for Inherited Metabolic Disorders, Children’s Health Ireland at Temple Street Dublin, Dublin, Ireland. University College Dublin, Dublin, Ireland. [Sykut-Cegielska J] Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland
dc.identifier.pmid35387391
dc.identifier.wos000778716800001
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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