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

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Herrero AO, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Olivas SM, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á - Orphanet J Rare Dis (2015)

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain. lcassis@hsjdbcn.org.

ABSTRACT

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.

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Related in: MedlinePlus

Flowchart of the strategy used to search and select GLs and RCs. A systematic search of the literature was performed in order to identify GLs and RCs encompassing 682 iNMDs. The documents were firstly selected on the basis of title and abstract (251 items). The analysis of the full text, as well as the application of the exclusion criteria, returned 55 unique documents that underwent AGREE II appraisal. GL: guideline; RC: recommendation; NGC: National Guideline Clearinghouse; G-I-N: Guideline International Network; SIGN: Scottish Intercollegiate Guideline Network; NICE: National Institute for Health and Care Excellence; AGREE: Appraisal of Guidelines, Research, and Evaluation
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Fig1: Flowchart of the strategy used to search and select GLs and RCs. A systematic search of the literature was performed in order to identify GLs and RCs encompassing 682 iNMDs. The documents were firstly selected on the basis of title and abstract (251 items). The analysis of the full text, as well as the application of the exclusion criteria, returned 55 unique documents that underwent AGREE II appraisal. GL: guideline; RC: recommendation; NGC: National Guideline Clearinghouse; G-I-N: Guideline International Network; SIGN: Scottish Intercollegiate Guideline Network; NICE: National Institute for Health and Care Excellence; AGREE: Appraisal of Guidelines, Research, and Evaluation

Mentions: For each of the 682 identified iNMDs, grouped in ten categories, the following electronic databases related to GLs and RCs were systematically searched on February-March 2015: PubMed (http://www.ncbi.nlm.nih.gov/pubmed); the National Guideline Clearinghouse (NGC, http://www.guideline.gov); the Guidelines International Network (G-I-N, http://www.g-i-n.net); the Scottish Intercollegiate Guideline Network (SIGN, http://www.sign.ac.uk); the National Institute for Health and Care Excellence (NICE, http://www.nice.org.uk). Additional publications were included after manually checking the reference lists of the identified relevant documents. The strategy used to identify the GLs and RCs is shown in Fig. 1.Fig. 1


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

Cassis L, Cortès-Saladelafont E, Molero-Luis M, Yubero D, González MJ, Herrero AO, Fons C, Jou C, Sierra C, Castejon Ponce E, Ramos F, Armstrong J, O'Callaghan MM, Casado M, Montero R, Olivas SM, Artuch R, Barić I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanović-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M, Garcia-Cazorla Á - Orphanet J Rare Dis (2015)

Flowchart of the strategy used to search and select GLs and RCs. A systematic search of the literature was performed in order to identify GLs and RCs encompassing 682 iNMDs. The documents were firstly selected on the basis of title and abstract (251 items). The analysis of the full text, as well as the application of the exclusion criteria, returned 55 unique documents that underwent AGREE II appraisal. GL: guideline; RC: recommendation; NGC: National Guideline Clearinghouse; G-I-N: Guideline International Network; SIGN: Scottish Intercollegiate Guideline Network; NICE: National Institute for Health and Care Excellence; AGREE: Appraisal of Guidelines, Research, and Evaluation
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4696316&req=5

Fig1: Flowchart of the strategy used to search and select GLs and RCs. A systematic search of the literature was performed in order to identify GLs and RCs encompassing 682 iNMDs. The documents were firstly selected on the basis of title and abstract (251 items). The analysis of the full text, as well as the application of the exclusion criteria, returned 55 unique documents that underwent AGREE II appraisal. GL: guideline; RC: recommendation; NGC: National Guideline Clearinghouse; G-I-N: Guideline International Network; SIGN: Scottish Intercollegiate Guideline Network; NICE: National Institute for Health and Care Excellence; AGREE: Appraisal of Guidelines, Research, and Evaluation
Mentions: For each of the 682 identified iNMDs, grouped in ten categories, the following electronic databases related to GLs and RCs were systematically searched on February-March 2015: PubMed (http://www.ncbi.nlm.nih.gov/pubmed); the National Guideline Clearinghouse (NGC, http://www.guideline.gov); the Guidelines International Network (G-I-N, http://www.g-i-n.net); the Scottish Intercollegiate Guideline Network (SIGN, http://www.sign.ac.uk); the National Institute for Health and Care Excellence (NICE, http://www.nice.org.uk). Additional publications were included after manually checking the reference lists of the identified relevant documents. The strategy used to identify the GLs and RCs is shown in Fig. 1.Fig. 1

Bottom Line: 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.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.

View Article: PubMed Central - PubMed

Affiliation: Neurology, gastroenterology pathology and clinical biochemistry Departments, IRP-HSJD and CIBERER, Barcelona, Spain. lcassis@hsjdbcn.org.

ABSTRACT

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.

Show MeSH
Related in: MedlinePlus