European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases

被引：9

作者：

Aleksovska, Katina ^{[1
,2
,3
]}

Kobulashvili, Teia ^{[4
]}

Costa, Joao ^{[5
]}

Zimmermann, Georg ^{[4
,6
,7
]}

Ritchie, Karen ^{[8
]}

Reinhard, Carola ^{[9
,10
]}

Vignatelli, Luca ^{[11
]}

Fanciulli, Alessandra ^{[12
]}

Damian, Maxwel ^{[13
,14
]}

Pavlakova, Lucia ^{[1
]}

Burgunder, Jean-Marc ^{[15
,16
]}

Kopishinskaya, Svetlana ^{[17
]}

Rakusa, Martin ^{[18
]}

Kovacs, Norbert ^{[3
,19
]}

Erdogan, Fusun Ferda ^{[20
]}

Linton, Lori Renna ^{[21
]}

Copetti, Massimiliano ^{[22
]}

Lamperti, Costanza ^{[23
]}

Servidei, Serenella ^{[24
]}

Evangelista, Theresina ^{[25
,26
]}

Ayme, Segolene ^{[27
]}

Pareyson, Davide ^{[28
]}

Sellner, Johann ^{[29
]}

Krarup, Christian ^{[30
,31
,32
]}

de Visser, Marianne ^{[33
]}

van den Bergh, Peter ^{[34
]}

Toscano, Antonio ^{[35
]}

Graessner, Holm ^{[9
,10
]}

Berger, Thomas ^{[36
]}

Bassetti, Claudio ^{[37
]}

Vidailhet, Marie ^{[9
,38
]}

Trinka, Eugene ^{[4
,39
,40
]}

Deuschl, Guenther ^{[41
]}

Federico, Antonio ^{[9
,42
]}

Leone, Maurizio A. ^{[2
]}

机构：

[1] European Acad Neurol, Vienna, Austria

[2] Fdn IRCCS Casa Sollievo Sofferenza, Dept Emergency & Crit Care, SC Neurol, San Giovanni Rotondo, Italy

[3] Ss Cyril & Methodius Univ, Med Fac, Clin Neurol, Skopje, North Macedonia

[4] Paracelsus Med Univ, Christian Doppler Univ Hosp, Dept Neurol, Affiliated Partner ERN EpiCARE, Salzburg, Austria

[5] Univ Lisbon, Fac Med, Inst Med Mol, Lab Farmacol Clin & Terapeut, Lisbon, Portugal

[6] Paracelsus Med Univ, IDA Lab Salzburg, Team Biostat & Big Med Data, Salzburg, Austria

[7] Paracelsus Med Univ, Dept Res & Innovat, Salzburg, Austria

[8] Healthcare Improvement Scotland, Glasgow, Lanark, Scotland

[9] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany

[10] Univ Hosp Tubingen, Ctr Rare Dis, Tubingen, Germany

[11] IRCCS Ist Sci Neurol Bologna, Bologna, Italy

[12] Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria

[13] Cambridge Univ Hosp, Neurol & Neurointens Care, Cambridge, England

[14] Ipswich Hosp, Cambridge, England

[15] Neurozentrum Siloah AG, Swiss Huntington Ctr, Gumlingen, Switzerland

[16] Univ Bern, Dept Neurol, Bern, Switzerland

[17] Nizhny Novgorod State Med Acad, Niznij Novgorod, Russia

[18] Univ Med Ctr Maribor, Dept Neurol, Maribor, Slovenia

[19] Univ Pecs, Med Sch, Dept Neurol, Pecs, Hungary

[20] Erciyes Univ, Dept Neurol, Melikgazi Kayseri, Turkey

[21] Federat Natl Grp Related Hereditary Spast Paraple, EuroHSP, Paris, France

[22] Fdn IRCCS Casa Sollievo Sofferenza, Unit Biostat, San Giovanni Rotondo, Italy

[23] Fdn IRCCS Ist Neurol C Besta, Div Med Genet & Neurogenet, Milan, Italy

[24] Univ Cattolica Sacro Cuore, Fdn Policlin Univ IRCCS Roma, Milan, Italy

[25] Grp Hosp Univ La Pitie Salpetriere, Myol Inst, Neuromuscular Morphol Unit, Paris, France

[26] Sorbonne Univ, Ctr Reference Malad Neuromusculaires Nord Est Ile, AP HP, Inserm UMRS 974, Paris, France

[27] Sorbonne Univ, Paris Brain Inst ICM, Inserm U 1127, CNRS,UMR 7225, Paris, France

[28] Fdn IRCCS Ist Neurol Carlo Besta, Dept Clin Neurosci, Unit Rare Neurodegenerat & Neurometab Dis, Milan, Italy

[29] Landesklinikum Mistelbach Ganserndorf, Dept Neurol, Mistelbach, Austria

[30] Rigshosp, Dept Clin Neurophysiol, Clin Neurophysiol, Copenhagen, Denmark

[31] Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark

[32] Univ Copenhagen, Dept Neurosci, Copenhagen, Denmark

[33] Univ Amsterdam, Amsterdam Univ, Dept Neurol, Amsterdam Neurosci,Med Ctr, Amsterdam, Netherlands

[34] Univ Hosp St Luc, Neuromuscular Reference Ctr UCL St Luc, Brussels, Belgium

[35] AOU Policlin Messina, Neurol & Neuromuscular Disorders Unit, Dept Clin & Expt Med, Messina, Italy

[36] Med Univ Vienna, Dept Neurol, Vienna, Austria

[37] Univ Hosp, Med Fac, Neurol Dept, Bern, Switzerland

[38] Sorbonne Univ, Hosp Salpetriere, AP HP,CNRS, INSERM,Paris Brain Inst ICM,Inst Cervea,Dept Neur, Paris, France

[39] Christian Doppler Univ Hosp, Ctr Cognit Neurosci, Neurosci Inst, Salzburg, Austria

[40] UMIT Univ Hlth Sci Med Informat & Technol, Dept Publ Hlth, Hlth Serv Res & Hlth Technol Assessment, Hall In Tirol, Austria

[41] Univ Kiel, Dept Neurol, Kiel, Germany

[42] Univ Siena, Med Sch, Dept Med Surg & Neurosci, Siena, Italy

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2022年 / 29卷 / 06期

关键词：

AGREE; consensus; Delphi; guideline; neurology; rare diseases; recommendation; INTERNATIONAL NETWORK; MANAGEMENT; CONSENSUS; RECOMMENDATIONS; DIAGNOSIS; QUALITY; GRADE; STANDARDS; THERAPY;

D O I：

10.1111/ene.15267

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background and purpose Rare diseases affect up to 29 million people in the European Union, and almost 50% of them affect the nervous system or muscles. Delays in diagnosis and treatment onset and insufficient treatment choices are common. Clinical practice guidelines (CPGs) may improve the diagnosis and treatment of patients and optimize care pathways, delivering the best scientific evidence to all clinicians treating these patients. Recommendations are set for developing and reporting high-quality CPGs on rare neurological diseases (RNDs) within the European Academy of Neurology (EAN), through a consensus procedure. Methods A group of 27 experts generated an initial list of items that were evaluated through a two-step Delphi consensus procedure and a face-to-face meeting. The final list of items was reviewed by an external review group of 58 members. Results The consensus procedure yielded 63 final items. Items are listed according to the domains of the AGREE instruments and concern scope and purpose, stakeholder involvement, rigour of development, and applicability. Additional items consider reporting and ethical issues. Recommendations are supported by practical examples derived from published guidelines and are presented in two tables: (1) items specific to RND CPGs, and general guideline items of special importance for RNDs, or often neglected; (2) items for guideline development within the EAN. Conclusions This guidance aims to provide solutions to the issues specific to RNDs. This consensus document, produced by many experts in various fields, is considered to serve as a starting point for further harmonization and for increasing the quality of CPGs in the field of RNDs.

引用

页码：1571 / 1586

页数：16

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