背景:遗传性神经代谢紊乱(iNMDs)代表了一组近七百种罕见疾病,其常见表现是随时可能出现的临床神经或认知症状,在最初的几个月/几年,甚至在成年后。早期诊断和及时治疗通常对于疾病的有利过程至关重要。因此,卫生保健专业人员和患者越来越要求为iNMD诊断和管理制定新的循证建议,即使现有指南的方法学质量在很大程度上不清楚。InNerMeD-I-Network是第一个关于iNMD的欧洲网络,旨在共享和增加有关神经代谢紊乱的诊断和管理的有效信息。该项目的目标之一是确定针对iNMD的现有准则和建议的数量和方法质量。
方法:我们在PubMed上进行了系统的搜索,国家准则信息交换所(NGC),准则国际网络(G-I-N),苏格兰校际指南网络(SIGN)和美国国家健康与护理卓越研究所(NICE),以确定2000年1月至2015年6月发布的所有iNMD指南和建议。所选文件的方法学质量是使用AGREEII工具确定的,由6个领域组成的评估工具,涵盖23个关键项目。
结果:共有55条记录符合纳入标准,11%是关于疾病组,而大多数只包括一种疾病。溶酶体疾病,尤其是法布里,戈谢病和粘多糖症研究最多。建议的总体方法学质量是可以接受的,并且随着时间的推移而提高,评估人员强烈建议25%的已确定准则,建议64%,11%不推荐。然而,在涵盖不同疾病组的文档中观察到每个领域获得的得分的异质性,一些领域如"利益相关者参与"和"适用性"通常几乎没有得到解决.
结论:应该更加努力地提高iNMD和AGREEII工具的指南和建议的方法学质量,对于新的指南开发似乎是可取的。迫切需要制定涵盖仍未发现的疾病的新指南。
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.