Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

Abstract

More 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.

Integrated Care in Epilepsy Management: A Scoping Review of the Models and Components of Health and Social Care Delivery

“…Nine articles referred to one or more integrated care components that had been implemented [16][17][18][19][20][21][22][23][24], and 12 articles recommended one or more integrated care components [6,[25][26][27][28][29][30][31][32][33][34][35].…”

“…Multidisciplinary teams (MDTs): Twenty-two articles (61%) assessed the role and importance of MDTs in maximising the effectiveness and continuity of care for PLWE, but there was no consistency on the HCPs included in the MDT. Most of these articles (n = 13) recommended approaches to MDT organisation to foster optimal care for PLWE across various care settings [6,25,26,28,30,[33][34][35][36][37][38][39][40]. The remaining articles reported on the role of MDTs within other components of integrated care (e.g., care coordination) or models of integrated care that have been implemented [22,23,[41][42][43][44][45][46][47].…”

“…Shared electronic medical records (33) Telehealth (22) Digital health tools (14) Table 2 Frequency of study characteristics included in scoping review.…”

“…Five articles focused specifically on nurseled care coordination [38,39,42,44,45]. The remaining eight articles focused on the care coordinator role in MDTs [28,33,35,36,48], in identifying the varied and often complex needs of PLWE [6,19], and in assisting with pathways to surgery evaluation [28,31].…”

“…Transition from paediatric to adult services: Five articles (14%) examined transition from paediatric to adult services. Three articles emphasised the role of MDTs in facilitating care transitions [33,35,36]. Two studies focused on transition service gaps, including the appropriate assessment of communication and information needs of young PLWE and their families [40], and the need for sexual and reproductive health counselling for PLWE of childbearing age [27].…”