Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

Holm Graessner; Carola Reinhard; Tobias Bäumer; Annette Baumgärtner; Knut Brockmann; Norbert Brüggemann; Eva Bültmann; Jeanette Erdmann; Kirstin Heise; Günter Höglinger; Irina Hüning; Frank J. Kaiser; Christine Klein; Thomas Klopstock; Ingeborg Krägeloh-Mann; Markus Kraemer; Kerstin Luedtke; Martin Mücke; Thomas Musacchio; Andreas Nadke; Alma Osmanovic; Gabriele Ritter; Katharina Röse; Christopher Schippers; Ludger Schöls; Rebecca Schüle; Jörg B. Schulz; Joachim Sproß; Eveline Stasch; Gilbert Wunderlich; Alexander Münchau

doi:10.1186/s13023-024-03023-1

Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

Holm Graessner^*, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas NadkeAlma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B. Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau

^*Corresponding author for this work

4 Citations (Scopus)

Abstract

Background: In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients with rare neurological diseases (RND) in all age groups. Since then a dynamic national network for rare neurological disorders has been established comprising renowned experts in neurology, pediatric neurology, (neuro-) genetics and neuroradiology. DASNE has successfully implemented case presentations and multidisciplinary discussions both at yearly symposia and monthly virtual case conferences, as well as further educational activities covering a broad spectrum of interdisciplinary expertise associated with RND. Here, we present recommendation statements for optimized personalized management of patients with RND, which have been developed and reviewed in a structured Delphi process by a group of experts. Methods: An interdisciplinary group of 37 RND experts comprising DASNE experts, patient representatives, as well as healthcare professionals and managers was involved in the Delphi process. First, an online collection was performed of topics considered relevant for optimal patient care by the expert group. Second, a two-step Delphi process was carried out to rank the importance of the selected topics. Small interdisciplinary working groups then drafted recommendations. In two consensus meetings and one online review round these recommendations were finally consented. Results: 38 statements were consented and grouped into 11 topics: health care structure, core neurological expertise and core mission, interdisciplinary team composition, diagnostics, continuous care and therapy development, case conferences, exchange / cooperation between Centers for Rare Diseases and other healthcare partners, patient advocacy group, databases, translation and health policy.

Conclusions: This German interdisciplinary Delphi expert panel developed consented recommendations for optimal care of patients with RND in a structured Delphi process. These represent a basis for further developments and adjustments in the health care system to improve care for patients with RND and their families.

Original language	English
Article number	62
Journal	Orphanet Journal of Rare Diseases
Volume	19
Issue number	1
Pages (from-to)	62
ISSN	1750-1172
DOIs	https://doi.org/10.1186/s13023-024-03023-1
Publication status	Published - 01.2024

Funding

Open Access funding enabled and organized by Projekt DEAL. European Reference Network—Rare Neurological Diseases (ERN—RND; Project ID No 739510); AM was supported by the Damp-Stiftung (Kiel, Germany); Bundesministerium für Bildung und Forschung (BMBF) through funding for the TreatHSP network (grant 01GM2209A to RS) European Joint Programme on Rare Diseases for the PROSPAX consortium (grant 441409627 to RS). Markus Kraemer received honoraria for teaching activities from Roche Pharma and Chugai Pharma. Dr. Brüggemann received honaria from Abbott, Abbvie, Biogen, Biomarin, Bridgebio, Centogene and Zambon. He is funded by the DFG (BR4328.2–1, GRK1957), and the Michael J Fox Foundation. GH served as a consultant for Abbvie, Alzprotect, Aprineua, Asceneuron, Bial, Biogen, Biohaven, Kyowa Kirin, Lundbeck, Novartis, Retrotope, Roche, Sanofi, UCB; received honoraria for scientific presentations from Abbvie, Bayer Vital, Bial, Biogen, Bristol Myers Squibb, Kyowa Kirin, Roche, Teva, UCB, Zambon.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 4 Quality Education

Research Areas and Centers

Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)
Centers: Center for Rare Diseases (ZSE)

DFG Research Classification Scheme

2.22-02 Public Health, Healthcare Research, Social and Occupational Medicine
2.23-07 Clinical Neurology, Neurosurgery and Neuroradiology
2.23-08 Human Cognitive and Systems Neuroscience

Access to Document

10.1186/s13023-024-03023-1

Cite this

Graessner, H., Reinhard, C., Bäumer, T., Baumgärtner, A., Brockmann, K., Brüggemann, N., Bültmann, E., Erdmann, J., Heise, K., Höglinger, G., Hüning, I., Kaiser, F. J., Klein, C., Klopstock, T., Krägeloh-Mann, I., Kraemer, M., Luedtke, K., Mücke, M., Musacchio, T., ... Münchau, A. (2024). Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases. Orphanet Journal of Rare Diseases, 19(1), 62. Article 62. https://doi.org/10.1186/s13023-024-03023-1

@article{ddde71d328f044ae96745eb45b8d8953,

title = "Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases",

abstract = "Background: In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie f{\"u}r Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients with rare neurological diseases (RND) in all age groups. Since then a dynamic national network for rare neurological disorders has been established comprising renowned experts in neurology, pediatric neurology, (neuro-) genetics and neuroradiology. DASNE has successfully implemented case presentations and multidisciplinary discussions both at yearly symposia and monthly virtual case conferences, as well as further educational activities covering a broad spectrum of interdisciplinary expertise associated with RND. Here, we present recommendation statements for optimized personalized management of patients with RND, which have been developed and reviewed in a structured Delphi process by a group of experts. Methods: An interdisciplinary group of 37 RND experts comprising DASNE experts, patient representatives, as well as healthcare professionals and managers was involved in the Delphi process. First, an online collection was performed of topics considered relevant for optimal patient care by the expert group. Second, a two-step Delphi process was carried out to rank the importance of the selected topics. Small interdisciplinary working groups then drafted recommendations. In two consensus meetings and one online review round these recommendations were finally consented. Results: 38 statements were consented and grouped into 11 topics: health care structure, core neurological expertise and core mission, interdisciplinary team composition, diagnostics, continuous care and therapy development, case conferences, exchange / cooperation between Centers for Rare Diseases and other healthcare partners, patient advocacy group, databases, translation and health policy. Conclusions: This German interdisciplinary Delphi expert panel developed consented recommendations for optimal care of patients with RND in a structured Delphi process. These represent a basis for further developments and adjustments in the health care system to improve care for patients with RND and their families.",

author = "Holm Graessner and Carola Reinhard and Tobias B{\"a}umer and Annette Baumg{\"a}rtner and Knut Brockmann and Norbert Br{\"u}ggemann and Eva B{\"u}ltmann and Jeanette Erdmann and Kirstin Heise and G{\"u}nter H{\"o}glinger and Irina H{\"u}ning and Kaiser, \{Frank J.\} and Christine Klein and Thomas Klopstock and Ingeborg Kr{\"a}geloh-Mann and Markus Kraemer and Kerstin Luedtke and Martin M{\"u}cke and Thomas Musacchio and Andreas Nadke and Alma Osmanovic and Gabriele Ritter and Katharina R{\"o}se and Christopher Schippers and Ludger Sch{\"o}ls and Rebecca Sch{\"u}le and Schulz, \{J{\"o}rg B.\} and Joachim Spro{\ss} and Eveline Stasch and Gilbert Wunderlich and Alexander M{\"u}nchau",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2024. {\textcopyright} 2024. The Author(s).",

year = "2024",

month = jan,

doi = "10.1186/s13023-024-03023-1",

language = "English",

volume = "19",

pages = "62",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

number = "1",

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Graessner, H, Reinhard, C, Bäumer, T , Baumgärtner, A, Brockmann, K, Brüggemann, N , Bültmann, E, Erdmann, J, Heise, K, Höglinger, G, Hüning, I, Kaiser, FJ, Klein, C, Klopstock, T, Krägeloh-Mann, I, Kraemer, M, Luedtke, K, Mücke, M, Musacchio, T, Nadke, A, Osmanovic, A, Ritter, G, Röse, K, Schippers, C, Schöls, L, Schüle, R, Schulz, JB, Sproß, J, Stasch, E, Wunderlich, G & Münchau, A 2024, 'Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases', Orphanet Journal of Rare Diseases, vol. 19, no. 1, 62, pp. 62. https://doi.org/10.1186/s13023-024-03023-1

TY - JOUR

T1 - Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

AU - Graessner, Holm

AU - Reinhard, Carola

AU - Bäumer, Tobias

AU - Baumgärtner, Annette

AU - Brockmann, Knut

AU - Brüggemann, Norbert

AU - Bültmann, Eva

AU - Erdmann, Jeanette

AU - Heise, Kirstin

AU - Höglinger, Günter

AU - Hüning, Irina

AU - Kaiser, Frank J.

AU - Klein, Christine

AU - Klopstock, Thomas

AU - Krägeloh-Mann, Ingeborg

AU - Kraemer, Markus

AU - Luedtke, Kerstin

AU - Mücke, Martin

AU - Musacchio, Thomas

AU - Nadke, Andreas

AU - Osmanovic, Alma

AU - Ritter, Gabriele

AU - Röse, Katharina

AU - Schippers, Christopher

AU - Schöls, Ludger

AU - Schüle, Rebecca

AU - Schulz, Jörg B.

AU - Sproß, Joachim

AU - Stasch, Eveline

AU - Wunderlich, Gilbert

AU - Münchau, Alexander

PY - 2024/1

Y1 - 2024/1

N2 - Background: In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients with rare neurological diseases (RND) in all age groups. Since then a dynamic national network for rare neurological disorders has been established comprising renowned experts in neurology, pediatric neurology, (neuro-) genetics and neuroradiology. DASNE has successfully implemented case presentations and multidisciplinary discussions both at yearly symposia and monthly virtual case conferences, as well as further educational activities covering a broad spectrum of interdisciplinary expertise associated with RND. Here, we present recommendation statements for optimized personalized management of patients with RND, which have been developed and reviewed in a structured Delphi process by a group of experts. Methods: An interdisciplinary group of 37 RND experts comprising DASNE experts, patient representatives, as well as healthcare professionals and managers was involved in the Delphi process. First, an online collection was performed of topics considered relevant for optimal patient care by the expert group. Second, a two-step Delphi process was carried out to rank the importance of the selected topics. Small interdisciplinary working groups then drafted recommendations. In two consensus meetings and one online review round these recommendations were finally consented. Results: 38 statements were consented and grouped into 11 topics: health care structure, core neurological expertise and core mission, interdisciplinary team composition, diagnostics, continuous care and therapy development, case conferences, exchange / cooperation between Centers for Rare Diseases and other healthcare partners, patient advocacy group, databases, translation and health policy. Conclusions: This German interdisciplinary Delphi expert panel developed consented recommendations for optimal care of patients with RND in a structured Delphi process. These represent a basis for further developments and adjustments in the health care system to improve care for patients with RND and their families.

AB - Background: In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients with rare neurological diseases (RND) in all age groups. Since then a dynamic national network for rare neurological disorders has been established comprising renowned experts in neurology, pediatric neurology, (neuro-) genetics and neuroradiology. DASNE has successfully implemented case presentations and multidisciplinary discussions both at yearly symposia and monthly virtual case conferences, as well as further educational activities covering a broad spectrum of interdisciplinary expertise associated with RND. Here, we present recommendation statements for optimized personalized management of patients with RND, which have been developed and reviewed in a structured Delphi process by a group of experts. Methods: An interdisciplinary group of 37 RND experts comprising DASNE experts, patient representatives, as well as healthcare professionals and managers was involved in the Delphi process. First, an online collection was performed of topics considered relevant for optimal patient care by the expert group. Second, a two-step Delphi process was carried out to rank the importance of the selected topics. Small interdisciplinary working groups then drafted recommendations. In two consensus meetings and one online review round these recommendations were finally consented. Results: 38 statements were consented and grouped into 11 topics: health care structure, core neurological expertise and core mission, interdisciplinary team composition, diagnostics, continuous care and therapy development, case conferences, exchange / cooperation between Centers for Rare Diseases and other healthcare partners, patient advocacy group, databases, translation and health policy. Conclusions: This German interdisciplinary Delphi expert panel developed consented recommendations for optimal care of patients with RND in a structured Delphi process. These represent a basis for further developments and adjustments in the health care system to improve care for patients with RND and their families.

UR - https://www.scopus.com/pages/publications/85185109561

UR - https://www.mendeley.com/catalogue/c2908180-a54e-34eb-b878-9c731668a184/

U2 - 10.1186/s13023-024-03023-1

DO - 10.1186/s13023-024-03023-1

M3 - Journal articles

C2 - 38347616

AN - SCOPUS:85185109561

SN - 1750-1172

VL - 19

SP - 62

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

IS - 1

M1 - 62

ER -

Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

Abstract

Funding

UN SDGs

Research Areas and Centers

DFG Research Classification Scheme

Access to Document

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Cite this