Evidence map›Paper›PMID 38347616›Full record

ArticleOrphanet journal of rare diseases2024

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 and 21 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.1field-weighted citation impact, top 22% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 2 citations in OpenAlex.

  1. Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026
    Article
  2. Article
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

31 authors at 16 institutions in 3 countries.

Holm Graessner *Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.ORCID 0000-0001-9803-7183
Carola Reinhard *Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Tobias BäumerInstitute of Systems Motor Science, University of Lübeck, Lübeck, Germany.
Annette BaumgärtnerInstitute of Health Sciences, University of Lübeck, Lübeck, Germany.
Knut BrockmannInterdisciplinary Pediatric Center for Children With Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.
Norbert BrüggemannCenter for Rare Diseases, University of Lübeck and University Hospital Medical Center, Schleswig-Holstein, Germany.
Eva BültmannInstitute of Diagnostic Und Interventional Neuroradiology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Jeanette ErdmannInstitute for Cardiogenetics, DZHK (German Research Centre for Cardiovascular Research), Partner Site Hamburg/Lübeck/Kiel, and University Heart Center Lübeck, University of Lübeck, Lübeck, Germany.
Kirstin HeiseDepartment of Health Sciences and Research, Medical University of South Carolina, Charleston, USA.
Günter HöglingerDepartment of Neurology, Hannover Medical School, Carl-Neuberg-Straße 1, 30625, Hannover, Germany.
Irina HüningInstitute of Human Genetics, University of Lübeck, Lübeck, Germany.
Frank J KaiserEssen Center for Rare Diseases (Essener Zentrum Für Seltene Erkrankungen, EZSE), University Hospital Essen, Essen, Germany.
Christine KleinInstitute of Neurogenetics, University of Lübeck and University Hospital Medical Center , Schleswig-Holstein, Germany.
Thomas KlopstockFriedrich Baur Institute at the Department of Neurology, University Hospital, LMU , Munich, Germany.
Ingeborg Krägeloh-MannDepartment of Pediatric and Developmental Neurology, Social Pediatrics, University of Tübingen, Tübingen, Germany.
Markus KraemerDepartment of Neurology, Alfried Krupp Hospital Essen, Essen, Germany.
Kerstin LuedtkeDepartment of Physiotherapy, Institute of Health Sciences, University of Lübeck, Lübeck, Germany.
Martin MückeInstitute for Digitalization and General Medicine, RWTH Aachen University, Pauwelsstraße 30, 52074, Aachen, Germany.
Thomas MusacchioDepartment of Neurology, University Hospital of Würzburg, Josef-Schneider-Str. 11, 97080, Würzburg, Germany.
Andreas NadkeDeutsche Heredo-Ataxie-Gesellschaft E.V., Stuttgart, Germany.
Alma OsmanovicEssen Center for Rare Diseases (Essener Zentrum Für Seltene Erkrankungen, EZSE), University Hospital Essen, Essen, Germany.
Gabriele RitterKlinikum Ameos, 23774 Heiligenhafen Friedrich Ebertstrrasse 100 Huntington Zentrum Nord, Heiligenhafen, Germany.
Katharina RöseInstitute of Health Sciences, University of Lübeck, Lübeck, Germany.
Christopher SchippersCenter for Rare Diseases Aachen (ZSEA), University Hospital Aachen, Aachen, Germany.
Ludger SchölsCentre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.
Rebecca SchüleDivision of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, Heidelberg, Germany.
Jörg B SchulzDepartment of Neurology and Center for Rare Diseases, University Hospital, RWTH Aachen University, Aachen, Germany.
Joachim SproßDeutsche Gesellschaft Für Muskelkranke e.V. Im Moos 4, 79112, Freiburg, Germany.
Eveline StaschDeutsche PSP-Gesellschaft e.V. Weingartenstr. 28a, 61231, Bad Nauheim, Germany.
Gilbert WunderlichFaculty of Medicine and University Hospital, Department of Neurology, University of Cologne, Cologne, Germany.
Alexander MünchauInstitute of Systems Motor Science, University of Lübeck, Lübeck, Germany.
University of Lübeck · DEGerman Center for Neurodegenerative Diseases · DERWTH Aachen University · DEUniversity Children's Hospital Tübingen · DEAlfried Krupp Hospital · DEDeutsche Gesellschaft für Muskelkranke · DEHeidelberg University · DEMedical University of South Carolina · USMedizinische Hochschule Hannover · DEUniversität Hamburg · DEUniversitätsklinikum Aachen · DEUniversitätsklinikum Würzburg · DEUniversitätsmedizin Göttingen · DEUniversity Hospital Schleswig-Holstein · DEUniversity of Cologne · DEUniversity of Tübingen · DE

Funding

Bundesministerium für Bildung und Forschung 441409627
6 · The paper itself

Abstract

backgroundIn 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.

methodsAn 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.

results38 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.

conclusionsThis 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.

Indexed as

Nervous System DiseasesNeurologyChildConsensusDelivery of Health CareHumansRare DiseasesHealthcare settingsInterdisciplinary managementOptimal careRare neurological diseases

Identifiers

PMID38347616
PMCPMC10863275
OpenAlexW4391784422

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.