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

Cassis, Linda; Cortès-Saladelafont, Elisenda; Molero-Luis, Marta; Yubero, Delia; González, Maria Julieta; Ormazábal, Aida; Fons, Carme; Jou, Cristina; Sierra, Cristina; Castejon Ponce, Esperanza; Ramos, Federico; Armstrong, Judith; O’Callaghan, M. Mar; Casado, Mercedes; Montero, Raquel; Meavilla-Olivas, Silvia; Artuch, Rafael; Barić, Ivo; Bartoloni, Franco; Bellettato, Cinzia Maria; Bonifazi, Fedele; Ceci, Adriana; Cvitanović-Šojat, Ljerka; Dali, Christine I; D’Avanzo, Francesca; Fumic, Ksenija; Giannuzzi, Viviana; Lampe, Christina; Scarpa, Maurizio; Garcia-Cazorla, Ángels

doi:10.1186/s13023-015-0376-9

Orphanet Journal of Rare Diseases

Table 3 Results of AGREE II appraisal for all the identified guidelines and recommendations

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

Authors	OR	D1	D2	D3	D4	D5	D6	OQA	GR
Disorders of amino acid and other organic acid metabolism
Arnold GL	R	67	44	52	61	29	0	50	2
Baumgartner MR	SR	94	86	95	94	46	50	92	3
Frazier D	SR	78	92	83	97	65	58	92	2.5
Haberle J	SR	83	89	90	89	58	96	92	3
Kölker S-2011	SR	56	58	83	92	63	100	75	2.5
Kölker S-2007	R	67	36	91	89	29	100	75	2.5
NIH CDP	SR	89	86	86	81	73	4	58	2.5
Vockley J	R	89	31	60	78	48	54	75	2
Disorders of carbohydrate metabolism
Barba-Romero MA	R	80	61	53	83	31	50	75	2
Cochat P	R	72	28	27	92	31	33	58	2.5
Cupler EJ	R	64	64	46	67	41	63	75	2
Kishnani PS-2014	SR	86	61	47	100	58	63	75	2.5
Kishnani PS-2010	R	89	61	50	83	48	33	67	2
Kishnani PS-2006	SR	83	56	44	56	50	75	67	2
Rake JP	R	94	17	27	92	25	0	58	2
Visser G	R	83	19	23	83	23	0	50	2
Winchester B	NR	72	36	14	53	25	67	42	1.5
Disorders of vitamin and non protein cofactor metabolism and transport
BCMSC	R	94	31	51	61	27	0	67	2.5
Devalia V	R	83	33	71	94	67	83	83	2
Disorders of porphyrin and hem metabolism
Stein P	SR	89	81	56	89	56	50	75	2.5
Disorders of mineral absorption and transport
Bacon BR	R	56	44	75	83	46	17	67	2
BCMA	R	94	8	13	81	27	0	58	2
EASL	R	67	28	49	86	35	38	67	2
Qaseem A	NR	100	36	27	50	23	42	33	1.5
Roberts EA	R	67	17	32	78	33	0	58	2
Disorders of energy metabolism
Angelini	NR	64	8	36	31	8	21	33	1.5
Arnold GL	R	86	67	61	72	38	0	67	2
Finsterer J	R	75	53	48	72	19	0	58	2.5
Disorders of lysosomal and lysosomal-related organelles
Andersson	R	83	33	29	67	25	0	58	2.5
Bennett RL	SR	92	86	69	78	52	46	83	3
Biegstraaten M	SR	64	81	65	64	42	71	67	2
Charrow J	R	81	56	43	69	33	13	58	2
de Ru MH	SR	89	50	63	89	54	58	75	2.5
Desnick RJ	NR	64	22	40	53	48	46	42	2
Eng CM	R	92	42	45	89	46	0	67	2.5
Fahnehjelm KT	R	75	58	32	81	38	50	75	2.5
Giugliani R	R	75	56	56	67	29	38	58	2
Grabowski GA	R	72	33	27	56	33	0	50	2
Kaplan P	R	78	39	29	78	38	100	83	2
Kes VB	R	61	33	29	56	21	0	50	2
Laney DA	R	94	92	46	78	46	83	67	2.5
Langereis EJ	R	86	72	58	53	23	46	58	2
Muenzer J-2012	R	92	53	33	69	40	92	50	2.5
Muenzer J-2009	R	69	36	28	69	42	50	58	2
Ortiz A	R	58	31	40	61	23	92	50	2.5
Patterson MC	R	78	28	38	78	42	4	67	2
Peters C	NR	64	39	25	33	13	0	25	1.5
Scarpa M	SR	61	75	61	89	42	58	75	2.5
Solanki GA	R	72	39	24	61	54	100	50	1.5
Terryn W	SR	81	44	67	78	58	54	67	2.5
Vellodi A	NR	83	61	30	72	17	0	42	1.5
Vom Dahl S	R	89	36	54	56	31	83	50	2
Wang RY	SR	92	64	53	92	67	92	83	2.5
Weinreb NJ	R	67	39	30	67	17	4	50	2
Wraith JE	R	83	28	46	83	42	0	83	3

OR Overall recommendation, D Domain, OQA Overall quality assessment, GR Grade of recommendation, NIH CDP National institutes of health consensus development panel, BCMSC British Columbia medical services commission, BCMA British Columbia medical association, EASL European association for study of liver, SR Strongly recommended, R Recommended, NR Not recommended domain scores were calculated as described in Methods

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ISSN: 1750-1172

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