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2015 ; 10
(ä): 164
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Review and evaluation of the methodological quality of the existing guidelines
and recommendations for inherited neurometabolic disorders
#MMPMID26714856
Cassis L
; Cortčs-Saladelafont E
; Molero-Luis M
; Yubero D
; González MJ
; Ormazábal A
; Fons C
; Jou C
; Sierra C
; Castejon Ponce E
; Ramos F
; Armstrong J
; O'Callaghan MM
; Casado M
; Montero R
; Meavilla-Olivas S
; Artuch R
; Bari? I
; Bartoloni F
; Bellettato CM
; Bonifazi F
; Ceci A
; Cvitanovi?-?ojat L
; Dali CI
; D'Avanzo F
; Fumic K
; Giannuzzi V
; Lampe C
; Scarpa M
; Garcia-Cazorla Á
Orphanet J Rare Dis
2015[Dec]; 10
(ä): 164
PMID26714856
show ga
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.