Jang Dae-Gyu, Federico Antonio, Savelieff Masha G, Grisold Wolfgang, Mancuso Michelangelo, Molnar Maria J, Feldman Eva L, Reynolds Evan L
Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA; NeuroNetwork for Emerging Therapies, University of Michigan, Ann Arbor, MI 48109, USA.
Chair, Subspecialist Group of Rare Neurologic Diseases, World Federation of Neurology, UK; Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
J Neurol Sci. 2025 Mar 15;470:123395. doi: 10.1016/j.jns.2025.123395. Epub 2025 Jan 14.
Rare neurologic diseases (RNDs) are difficult to diagnose and treat due to their low prevalence and complex nature. This survey evaluated awareness and current care status of RNDs among esteemed neurologists affiliated with the World Federation of Neurology (WFN).
A 34-question survey was distributed to renowned neurologists, including delegates from national neurology societies in the WFN Assembly, various WFN committees, and members of the Rare Neurologic Diseases Specialist group. Responses were stratified by geographical regions, including Africa, the Americas, Asia/Oceania, and Europe, and into four income groups based on the World Bank Indicator. Descriptive statistics summarized responses, stratified by geographical regions or income groups, and significant differences were assessed by Fisher's exact test.
Of 190 invited neurologists, 64 responded (34 % response rate). Among respondents, 89 % agreed that RND patients should receive timely and effective care on par with more common neurological conditions. Additionally, 77 % of respondents overall thought most RNDs could be accurately diagnosed in their country. However, there were significant differences in the perceived ability of respondents' country of practice to diagnose RNDs by region, specifically in Africa (25 %), and by income of country of practice, specifically in the lower-income group (17 %).
This global survey highlights varying RND diagnosis and care by country socioeconomic status, suggesting potential disparities in resources and preparedness. To improve outcomes and quality-of-life for RND patients, efforts should focus on improving diagnostic capabilities, fostering collaboration among neurology centers, and promoting education on the unique challenges and treatment options of RNDs.
罕见神经系统疾病（RNDs）因其患病率低且性质复杂，诊断和治疗难度较大。本调查评估了世界神经病学联合会（WFN）所属知名神经科医生对RNDs的认知及当前的诊疗状况。
向知名神经科医生发放了一份包含34个问题的调查问卷，其中包括WFN大会上各国神经病学学会的代表、WFN各委员会成员以及罕见神经系统疾病专家小组的成员。根据地理区域（包括非洲、美洲、亚洲/大洋洲和欧洲）以及基于世界银行指标划分的四个收入组对回复进行分层。描述性统计总结了按地理区域或收入组分层的回复情况，并通过Fisher精确检验评估显著差异。
在190名受邀神经科医生中，64人回复（回复率为34%）。在受访者中，89%同意RND患者应获得与更常见神经系统疾病同等的及时有效治疗。此外，总体上77%的受访者认为大多数RNDs在其所在国家可以得到准确诊断。然而，受访者所在国家对RNDs的诊断能力在地区上存在显著差异，特别是在非洲（25%），在国家收入方面也存在显著差异，特别是在低收入组（17%）。
这项全球调查凸显了不同国家社会经济状况下RNDs诊断和治疗的差异，表明在资源和准备方面可能存在差距。为改善RND患者的治疗效果和生活质量，应努力提高诊断能力，促进神经科中心之间的合作，并加强对RNDs独特挑战和治疗选择的教育。
