在欧洲关于患者跨境医疗保健权利的指令的背景下,2017年推出了24个欧洲参考网络(ERN)。ERN是由专科医院组成的网络,共同为患有罕见和/或复杂疾病的患者提供支持。ERNCRANIO是颅面异常和耳朵的ERN,鼻子和喉咙疾病。本研究的目的是探讨ERNCRANIO对颅骨融合的患者覆盖率。
ERNCRANIO成员和申请人被要求回顾性报告2017年出现的“新的颅骨融合患者”(孤立和综合征)的数量。2017年每个国家的活产数量是从欧洲统计局获得的,欧盟统计局。每个国家报告的新患者人数和活产人数用于生成每10,000名活产的国家特定患病率数字。将这些数字与颅骨融合的预期患病率范围进行了比较,特别是综合征性颅骨融合症,由最近的欧洲研究定义。每个国家的综合征性颅骨融合病例百分比也与预期百分比范围进行了比较。
根据以前的研究,颅骨融合症和综合征性颅骨融合症的预期患病率范围分别定义为4.4-7.2例和0.9-1.6例患者/10,000例活产.对于颅骨融合(“总”;孤立+综合征),来自英国和芬兰的“新患者”数据产生了预期范围内的患病率数据,还有那些在法国的人,西班牙,意大利,葡萄牙和德国低于预期。然而,当包括申请人数据时,法国的患病率数字,西班牙和意大利成为范围。荷兰和瑞典的数据得出的患病率数字高于预期。对于法国来说,芬兰,意大利和瑞典,“总”和综合征患者的患者覆盖率不一致。对于法国来说,德国,芬兰和意大利,综合征性颅骨融合的百分比低于预期范围.
ERNCRANIO对颅骨融合的报道在整个欧洲各不相同。结果可以用数据收集方法来解释,基因检测政策和/或国家医疗保健系统。中心案件量是质量的驱动力,额外的ERN会员电话可能不一定能确保拥有分散化医疗保健系统的国家有足够的患者覆盖率。应鼓励与国家卫生部联络,以优化患者的覆盖范围。
Against the backdrop of the European Directive on patients\' rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are networks of specialised hospitals working together to support patients with rare and/or complex diseases. ERN CRANIO is the ERN for craniofacial anomalies and ear, nose and throat disorders. The aim of this study was to explore ERN CRANIO\'s patient coverage of craniosynostosis.
ERN CRANIO members and applicants were asked to retrospectively report the number of \'new craniosynostosis patients\' (isolated and syndromic) seen in 2017. The number of live births per country in 2017 was retrieved from EUROSTAT, the EU\'s statistical office. The number of new patients reported per country and the number of live births were used to generate country-specific prevalence figures per 10,000 live births. These figures were compared to expected prevalence ranges for craniosynostosis, and syndromic craniosynostosis specifically, defined by recent European studies. The percentage of syndromic craniosynostosis cases per country was also compared to the expected percentage range.
Based on previous studies, the expected prevalence ranges for craniosynostosis and syndromic craniosynostosis specifically were respectively defined as 4.4-7.2 and 0.9-1.6 patients/10,000 live births. For craniosynostosis (\'total\'; isolated + syndromic), \'new patient\' data from the UK and Finland generated prevalence figures within the expected range, and those in France, Spain, Italy, Portugal and Germany are lower than expected. However, when including applicant data, the prevalence figures for France, Spain and Italy become in range. Data from the Netherlands and Sweden generated higher prevalence figures than expected. For France, Finland, Italy and Sweden, there is inconsistency between patient coverage of \'total\' and syndromic patients. For France, Germany, Finland and Italy, the percentage of syndromic craniosynostosis was lower than the expected range.
ERN CRANIO\'s coverage of craniosynostosis varies across Europe. Results may be explained by data collection methods, genetic testing policies and/or national healthcare systems. With centre caseload a driving force for quality, additional ERN membership calls may not necessarily ensure sufficient patient coverage for countries with decentralised healthcare systems. Liaison with national health ministries should be encouraged to optimise patient coverage.