prikaz prve stranice dokumenta Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
  Download
PDF 1.93 MB
Scientific paper - Original scientific paper
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Orphanet Journal of Rare Diseases, 10 (2015); 164. https://doi.org/10.1186/s13023-015-0376-9
Cassis, Linda; Cortès-Saladelafont, Elisenda; Molero-Luis, Marta; Yubero, Delia; González, Maria Julieta; Herrero, Aida Ormazabal; Fons, Carme; Jou, Cristina; Sierra, Cristina; Castejon Ponce, Esperanza; Ramos, Federico; Armstrong, Judith; O’Callaghan, M. Mar; Casado, Mercedes; Montero, Raquel; Olivas, Silvia Maria Meavilla; Artuch, Rafael; Barić, Ivo; Bartoloni, Franco; Bellettato, Cinzia Maria; Bonifazi, Fedele; Ceci, Adriana; Cvitanović-Šojat, Ljerka; Dali, Christine I; D’Avanzo, Francesca; Fumić, Ksenija; Giannuzzi, Viviana; Lampe, Christina; Scarpa, Maurizio; Garcia-Cazorla, Ángels More authors...

Cite this document

Cassis, L., Cortès Saladelafont, E., Molero Luis, M., Yubero, D., González, M. J., Herrero, A. O. ... Garcia Cazorla, Á. (2015). Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Orphanet Journal of Rare Diseases, 10., 164. doi: 10.1186/s13023-015-0376-9

Cassis, Linda, et al. "Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders." Orphanet Journal of Rare Diseases, vol. 10, 2015, p. 164. https://doi.org/10.1186/s13023-015-0376-9

Cassis, Linda, Elisenda Cortès Saladelafont, Marta Molero Luis, Delia Yubero, Maria Julieta González, Aida Ormazabal Herrero, Carme Fons, et al. "Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders." Orphanet Journal of Rare Diseases 10 (2015): 164. https://doi.org/10.1186/s13023-015-0376-9

Cassis, L., et al. (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. doi: 10.1186/s13023-015-0376-9

Cassis L, Cortès Saladelafont E, Molero Luis M, Yubero D, González MJ, Herrero AO, and sur.. Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders. Orphanet Journal of Rare Diseases [Internet]. 2015 December 30 [cited 2024 October 05];10:164. doi: 10.1186/s13023-015-0376-9

L. Cassis, et al., "Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders", Orphanet Journal of Rare Diseases, vol. 10, p. 164, December 2015. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:841271. [Accessed: 05 October 2024]

Please login to the repository to save this object to your list.
Metadata
Title (english)Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
AuthorLinda Cassis
AuthorElisenda Cortès-Saladelafont
AuthorMarta Molero-Luis
AuthorDelia Yubero
AuthorMaria Julieta González
AuthorAida Ormazabal Herrero
AuthorCarme Fons
AuthorCristina Jou
AuthorCristina Sierra
AuthorEsperanza Castejon Ponce
AuthorFederico Ramos
AuthorJudith Armstrong
AuthorM. Mar O’Callaghan
AuthorMercedes Casado
AuthorRaquel Montero
AuthorSilvia Maria Meavilla Olivas
AuthorRafael Artuch
AuthorIvo Barić
AuthorFranco Bartoloni
AuthorCinzia Maria Bellettato
AuthorFedele Bonifazi
AuthorAdriana Ceci
AuthorLjerka Cvitanović-Šojat
AuthorChristine I Dali
AuthorFrancesca D’Avanzo
AuthorKsenija Fumić
AuthorViviana Giannuzzi
AuthorChristina Lampe
AuthorMaurizio Scarpa
AuthorÁngels Garcia-Cazorla
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleOrphanet Journal of Rare Diseases
Numberingvol. 10, p. 164
p-ISSN1750-1172
DOIhttps://doi.org/10.1186/s13023-015-0376-9
URN:NBNurn:nbn:hr:105:841271
Publication2015-12-30
Document URLhttps://doi.org/10.1186/s13023-015-0376-9
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 08:34:24