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

Cassis, Linda and Cortès-Saladelafont, Elisenda and Molero-Luis, Marta and Yubero, Delia and González, Maria Julieta and Herrero, Aida Ormazabal and Fons, Carme and Jou, Cristina and Sierra, Cristina and Castejon Ponce, Esperanza and Ramos, Federico and Armstrong, Judith and O’Callaghan, M. Mar and Casado, Mercedes and Montero, Raquel and Olivas, Silvia Maria Meavilla and Artuch, Rafael and Barić, Ivo and Bartoloni, Franco and Bellettato, Cinzia Maria and Bonifazi, Fedele and Ceci, Adriana and Cvitanović-Šojat, Ljerka and Dali, Christine I and D’Avanzo, Francesca and Fumić, Ksenija and Giannuzzi, Viviana and Lampe, Christina and Scarpa, Maurizio and Garcia-Cazorla, Ángels (2015) Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Orphanet Journal of Rare Diseases, 10. p. 164. ISSN 1750-1172

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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.

Item Type: Article
Additional Information: © 2015 Cassis et al. Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
MeSH: Brain Diseases, Metabolic / diagnosis ; Brain Diseases, Metabolic / therapy ; Evidence-Based Medicine / standards ; Humans ; Practice Guidelines as Topic / standards
Departments: Katedra za pedijatriju
Depositing User: Marijan Šember
Status: Published
Cortès-Saladelafont, ElisendaUNSPECIFIED
Molero-Luis, MartaUNSPECIFIED
González, Maria JulietaUNSPECIFIED
Herrero, Aida OrmazabalUNSPECIFIED
Sierra, CristinaUNSPECIFIED
Castejon Ponce, EsperanzaUNSPECIFIED
Ramos, FedericoUNSPECIFIED
Armstrong, JudithUNSPECIFIED
O’Callaghan, M. MarUNSPECIFIED
Casado, MercedesUNSPECIFIED
Montero, RaquelUNSPECIFIED
Olivas, Silvia Maria MeavillaUNSPECIFIED
Bartoloni, FrancoUNSPECIFIED
Bellettato, Cinzia MariaUNSPECIFIED
Bonifazi, FedeleUNSPECIFIED
Cvitanović-Šojat, LjerkaUNSPECIFIED
Dali, Christine IUNSPECIFIED
D’Avanzo, FrancescaUNSPECIFIED
Giannuzzi, VivianaUNSPECIFIED
Lampe, ChristinaUNSPECIFIED
Scarpa, MaurizioUNSPECIFIED
Garcia-Cazorla, ÁngelsUNSPECIFIED
Date: 30 December 2015
Date Deposited: 08 Mar 2016 13:41
Last Modified: 21 Jul 2020 08:28
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