Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases
Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases
复制标题
DOI：
10.1111/ene.14302
复制
发表时间：
2020-06-19
影响因子：
5.1
通讯作者：
Tijssen, M. A. J.
中科院分区：
文献类型：
--
作者：
Painous, C.;van Os, N. J. H.;Tijssen, M. A. J.
背景和目的罕见运动障碍的诊断很困难，具体的管理方案也没有很好的定义。因此，为了获取和评估护理需求，欧洲罕见神经疾病参考网络对所有欧洲联盟(EU)国家进行了一项探索性的护理需求调查。方法本研究为多中心横断面研究。将一份关于不同罕见运动障碍(组1，肌张力障碍、阵发性运动障碍和神经变性伴脑铁蓄积；组2，共济失调和遗传性痉挛截瘫；组3，不典型帕金森症；组4，舞蹈病)的处理情况的调查发送给来自每个欧盟国家的每组疾病的专家。结果部分欧盟国家要求增加教学课程。基因检测在相当多的国家并不容易获得。关于管理，在国家和疾病组之间，患者获得三级医院、专家和多学科小组的机会是不平等的。在一些国家，可供选择的治疗方法，如肉毒杆菌毒素或更具侵入性的治疗方法，如脑深部刺激，受到限制。结论欧盟国家对这些疾病的管理是不平等的。这项调查提供的证据表明，一个能够解决未得到满足的罕见神经疾病护理需求和不平等的欧洲护理网络是非常必要的。
Background and purpose The diagnosis of rare movement disorders is difficult and specific management programmes are not well defined. Thus, in order to capture and assess care needs, the European Reference Network for Rare Neurological Diseases has performed an explorative care need survey across all European Union (EU) countries. Methods This is a multicentre, cross-sectional study. A survey about the management of different rare movement disorders (group 1, dystonia, paroxysmal dyskinesia and neurodegeneration with brain iron accumulation; group 2, ataxias and hereditary spastic paraparesis; group 3, atypical parkinsonism; group 4, choreas) was sent to an expert in each group of disorders from each EU country. Results Some EU countries claimed for an increase of teaching courses. Genetic testing was not readily available in a significant number of countries. Regarding management, patients' accessibility to tertiary hospitals, to experts and to multidisciplinary teams was unequal between countries and groups of diseases. The availability of therapeutic options, such as botulinum toxin or more invasive treatments like deep brain stimulation, was limited in some countries. Conclusions The management of these conditions in EU countries is unequal. The survey provides evidence that a European care-focused network that is able to address the unmet rare neurological disease care needs and inequalities is highly warranted.