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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

Publication date, origin and topics of the identified GLs and RCs. a Number of GLs and RCs published between 2000 and 2015. b Correlation between year of publication from 2000 to 2014 and number of GLs or RCs, linear regression. c Country of origin of the GLs and RCs. For each document, the countries of origin of all the authors were analyzed and GLs and RCs were classified as: from Europe, from USA or from miscellaneous origin (different continents or different American countries). Data are expressed as relative percentage referred to total GLs and RCs covering the same group of disorders. d Topics covered by the identified GLs and RCs. A: amino acid and organic acid metabolism (n = 8); C: carbohydrate metabolism (n = 9); E: vitamin and non protein cofactor metabolism and transport (n = 2); F: porphyrin and hem metabolism (n = 1); G: mineral absorption and transport (n = 5); H: energy metabolism (n = 3); I: lysosomal and lysosomal-related organelles (n = 27)
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Fig3: Publication date, origin and topics of the identified GLs and RCs. a Number of GLs and RCs published between 2000 and 2015. b Correlation between year of publication from 2000 to 2014 and number of GLs or RCs, linear regression. c Country of origin of the GLs and RCs. For each document, the countries of origin of all the authors were analyzed and GLs and RCs were classified as: from Europe, from USA or from miscellaneous origin (different continents or different American countries). Data are expressed as relative percentage referred to total GLs and RCs covering the same group of disorders. d Topics covered by the identified GLs and RCs. A: amino acid and organic acid metabolism (n = 8); C: carbohydrate metabolism (n = 9); E: vitamin and non protein cofactor metabolism and transport (n = 2); F: porphyrin and hem metabolism (n = 1); G: mineral absorption and transport (n = 5); H: energy metabolism (n = 3); I: lysosomal and lysosomal-related organelles (n = 27)

Mentions: Although the number of new documents/year has been quite stable all over the last first decade, the overall frequency of GLs and RCs about iNMDs has significantly increased over time (Fig. 3a and b).Fig. 3


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)

Publication date, origin and topics of the identified GLs and RCs. a Number of GLs and RCs published between 2000 and 2015. b Correlation between year of publication from 2000 to 2014 and number of GLs or RCs, linear regression. c Country of origin of the GLs and RCs. For each document, the countries of origin of all the authors were analyzed and GLs and RCs were classified as: from Europe, from USA or from miscellaneous origin (different continents or different American countries). Data are expressed as relative percentage referred to total GLs and RCs covering the same group of disorders. d Topics covered by the identified GLs and RCs. A: amino acid and organic acid metabolism (n = 8); C: carbohydrate metabolism (n = 9); E: vitamin and non protein cofactor metabolism and transport (n = 2); F: porphyrin and hem metabolism (n = 1); G: mineral absorption and transport (n = 5); H: energy metabolism (n = 3); I: lysosomal and lysosomal-related organelles (n = 27)
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

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

Fig3: Publication date, origin and topics of the identified GLs and RCs. a Number of GLs and RCs published between 2000 and 2015. b Correlation between year of publication from 2000 to 2014 and number of GLs or RCs, linear regression. c Country of origin of the GLs and RCs. For each document, the countries of origin of all the authors were analyzed and GLs and RCs were classified as: from Europe, from USA or from miscellaneous origin (different continents or different American countries). Data are expressed as relative percentage referred to total GLs and RCs covering the same group of disorders. d Topics covered by the identified GLs and RCs. A: amino acid and organic acid metabolism (n = 8); C: carbohydrate metabolism (n = 9); E: vitamin and non protein cofactor metabolism and transport (n = 2); F: porphyrin and hem metabolism (n = 1); G: mineral absorption and transport (n = 5); H: energy metabolism (n = 3); I: lysosomal and lysosomal-related organelles (n = 27)
Mentions: Although the number of new documents/year has been quite stable all over the last first decade, the overall frequency of GLs and RCs about iNMDs has significantly increased over time (Fig. 3a and b).Fig. 3

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