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

Orphanet J Rare Dis. 2024 Feb 13;19(1):62. doi: 10.1186/s13023-024-03023-1.

Authors

Holm Graessner^#^{1

2}, Carola Reinhard^#^{3

4}, Tobias Bäumer^{5

6}, Annette Baumgärtner⁷, Knut Brockmann⁸, Norbert Brüggemann^{6

9

10}, Eva Bültmann¹¹, Jeanette Erdmann¹², Kirstin Heise^{13

14}, Günter Höglinger^{15

16

17}, Irina Hüning¹⁸, Frank J Kaiser¹⁹, Christine Klein²⁰, Thomas Klopstock^{21

22

23}, Ingeborg Krägeloh-Mann²⁴, Markus Kraemer^{25

26}, Kerstin Luedtke²⁷, Martin Mücke^{28

29

30}, Thomas Musacchio^{31

32}, Andreas Nadke³³, Alma Osmanovic¹⁹, Gabriele Ritter³⁴, Katharina Röse⁷, Christopher Schippers³⁵, Ludger Schöls^{4

36

37}, Rebecca Schüle^{38

39

40}, Jörg B Schulz⁴¹, Joachim Sproß⁴², Eveline Stasch⁴³, Gilbert Wunderlich⁴⁴, Alexander Münchau^{5

6}

Affiliations

¹ Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.
² Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.
³ Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
⁴ Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.
⁵ Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.
⁶ Center for Rare Diseases, University of Lübeck and University Hospital Medical Center, Schleswig-Holstein, Germany.
⁷ Institute of Health Sciences, University of Lübeck, Lübeck, Germany.
⁸ Interdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.
⁹ Department of Neurology, University Hospital Medical Center Schleswig-Holstein, Schleswig-Holstein, Germany.
¹⁰ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
¹¹ Institute of Diagnostic Und Interventional Neuroradiology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
¹² Institute for Cardiogenetics, DZHK (German Research Centre for Cardiovascular Research), Partner Site Hamburg/Lübeck/Kiel, and University Heart Center Lübeck, University of Lübeck, Lübeck, Germany.
¹³ Department of Health Sciences and Research, Medical University of South Carolina, Charleston, USA.
¹⁴ Department of Movement Sciences, Movement Control and Neural Plasticity Research Group, KU Leuven, Louvain, Belgium.
¹⁵ Department of Neurology, Hannover Medical School, Carl-Neuberg-Straße 1, 30625, Hannover, Germany.
¹⁶ Department of Neurology, Ludwig-Maximilians-Universität München, Marchioninistraße 15, 81377, Munich, Germany.
¹⁷ German Center for Neurodegenerative Diseases (DZNE), Feodor-Lynen-Straße 17, 81377, Munich, Germany.
¹⁸ Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
¹⁹ Essen Center for Rare Diseases (Essener Zentrum Für Seltene Erkrankungen, EZSE), University Hospital Essen, Essen, Germany.
²⁰ Institute of Neurogenetics, University of Lübeck and University Hospital Medical Center , Schleswig-Holstein, Germany.
²¹ Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU , Munich, Germany.
²² Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
²³ German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
²⁴ Department of Pediatric and Developmental Neurology, Social Pediatrics, University of Tübingen, Tübingen, Germany.
²⁵ Department of Neurology, Alfried Krupp Hospital Essen, Essen, Germany.
²⁶ Department of Neurology, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
²⁷ Department of Physiotherapy, Institute of Health Sciences, University of Lübeck, Lübeck, Germany.
²⁸ Institute for Digitalization and General Medicine, RWTH Aachen University, Pauwelsstraße 30, 52074, Aachen, Germany.
²⁹ Center for Rare Diseases Aachen (ZSEA), RWTH Aachen University, Pauwelsstraße 30, 52074, Aachen, Germany.
³⁰ Department of Neurology, RWTH Aachen University, Pauwelsstraße 30, 52074, Aachen, Germany.
³¹ Department of Neurology, University Hospital of Würzburg, Josef-Schneider-Str. 11, 97080, Würzburg, Germany.
³² Center for Rare Diseases, University Hospital of Würzburg, Josef-Schneider-Str. 2, 97080, Würzburg, Germany.
³³ Deutsche Heredo-Ataxie-Gesellschaft E.V., Stuttgart, Germany.
³⁴ Klinikum Ameos, 23774 Heiligenhafen Friedrich Ebertstrrasse 100 Huntington Zentrum Nord, Heiligenhafen, Germany.
³⁵ Center for Rare Diseases Aachen (ZSEA), University Hospital Aachen, Aachen, Germany.
³⁶ Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
³⁷ German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
³⁸ Division of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, Heidelberg, Germany.
³⁹ Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
⁴⁰ German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
⁴¹ Department of Neurology and Center for Rare Diseases, University Hospital, RWTH Aachen University, Aachen, Germany.
⁴² Deutsche Gesellschaft Für Muskelkranke e.V. Im Moos 4, 79112, Freiburg, Germany.
⁴³ Deutsche PSP-Gesellschaft e.V. Weingartenstr. 28a, 61231, Bad Nauheim, Germany.
⁴⁴ Faculty of Medicine and University Hospital, Department of Neurology, University of Cologne, Cologne, Germany.

^# Contributed equally.

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.

Keywords: Healthcare settings; Interdisciplinary management; Optimal care; Rare neurological diseases.

MeSH terms

Child
Consensus
Delivery of Health Care
Humans
Nervous System Diseases* / diagnosis
Nervous System Diseases* / therapy
Neurology*
Rare Diseases / therapy

Grants and funding

441409627/Bundesministerium für Bildung und Forschung