Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

Orphanet Journal of Rare Diseases

Ángels Garcia- Cazorla⁷  Maurizio Scarpa⁴  Christina Lampe³  Viviana Giannuzzi¹  Ksenija Fumic⁶  Francesca D’Avanzo²  Christine I Dali⁵  Ljerka Cvitanović-Šojat⁶  Adriana Ceci¹  Fedele Bonifazi¹  Cinzia Maria Bellettato²  Franco Bartoloni¹  Ivo Barić⁶  Rafael Artuch⁷  Silvia Maria Meavilla Olivas⁷  Raquel Montero⁷  Mercedes Casado⁷  M. Mar O’Callaghan⁷  Judith Armstrong⁷  Federico Ramos⁷  Esperanza Castejon Ponce⁷  Cristina Sierra⁷  Cristina Jou⁷  Carme Fons⁷  Aida Ormazabal Herrero⁷  Maria Julieta González⁷  Delia Yubero⁷  Marta Molero-Luis⁷  Elisenda Cortès-Saladelafont⁷  Linda Cassis⁷ 

[1] Gianni Benzi Pharmacological Research Foundation, Valenzano, BA, Italy;Department of Women and Children Health, Brains for Brain Foundation, Padova, Italy;Department of Pediatric and Adolescent Medicine, Centre for Rare Diseases, Horst Schmidt Klinik Wiesbaden, Wiesbaden, Germany;Department of Women’s and Children’s Health, University of Padova, Padova, Italy;Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark;Department of Pediatrics, University Hospital Center Zagreb, Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia;Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain

关键词: AGREE II;    Recommendations;    Guidelines;    Inborn errors of metabolism;    Inherited neurometabolic disorders;   

Others  :  1235068
DOI  :  10.1186/s13023-015-0376-9

 received in 2015-08-12, accepted in 2015-12-10,  发布年份 2015

【 摘 要 】

Background

Inherited neurometabolic disorders (iNMDs) represent a group of almost seven hundred rare diseases whose common manifestations are clinical neurologic or cognitive symptoms that can appear at any time, in the first months/years of age or even later in adulthood. Early diagnosis and timely treatments are often pivotal for the favorable course of the disease. Thus, the elaboration of new evidence-based recommendations for iNMD diagnosis and management is increasingly requested by health care professionals and patients, even though the methodological quality of existing guidelines is largely unclear. InNerMeD-I-Network is the first European network on iNMDs that was created with the aim of sharing and increasing validated information about diagnosis and management of neurometabolic disorders. One of the goals of the project was to determine the number and the methodological quality of existing guidelines and recommendations for iNMDs.

Methods

We performed a systematic search on PubMed, the National Guideline Clearinghouse (NGC), the Guidelines International Network (G-I-N), the Scottish Intercollegiate Guideline Network (SIGN) and the National Institute for Health and Care Excellence (NICE) to identify all the published guidelines and recommendations for iNMDs from January 2000 to June 2015. The methodological quality of the selected documents was determined using the AGREE II instrument, an appraisal tool composed of 6 domains covering 23 key items.

Results

A total of 55 records met the inclusion criteria, 11 % were about groups of disorders, whereas the majority encompassed only one disorder. Lysosomal disorders, and in particular Fabry, Gaucher disease and mucopolysaccharidoses where the most studied. The overall methodological quality of the recommendation was acceptable and increased over time, with 25 % of the identified guidelines strongly recommended by the appraisers, 64 % recommended, and 11 % not recommended. However, heterogeneity in the obtained scores for each domain was observed among documents covering different groups of disorders and some domains like 'stakeholder involvement' and 'applicability' were generally scarcely addressed.

Conclusions

Greater efforts should be devoted to improve the methodological quality of guidelines and recommendations for iNMDs and AGREE II instrument seems advisable for new guideline development. The elaboration of new guidelines encompassing still uncovered disorders is badly needed.

【 授权许可】

   
2015 Cassis et al.

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