Susanne Wehrli, Andrew A Dwyer, Baumgartner R Matthias, Markus A Landolt
Department of Psychosomatics and Psychiatry, University Children's Hospital, University of Zurich, Zurich, Switzerland.
Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland.
Public Health Pract (Oxf). 2025 Feb 13;9:100593. doi: 10.1016/j.puhip.2025.100593. eCollection 2025 Jun.
Rare diseases affect fewer than one in 2000 people and impact approximately 400 million individuals globally. High costs, uncoordinated care, and inadequate provider knowledge pose challenges to rare disease care. We aimed to examine the relationship between healthcare access and utilisation among rare disease patients in Switzerland.
A cross-sectional survey was conducted with 314 individuals with a rare disease.
Participants completed the Perception of Access to Healthcare Questionnaire (PAHQ) and provided data on healthcare utilisation (institutional and provider levels). Network analysis assessed nodes were based on expected influence (EI), predictability, and bridge centrality (BC).
Four PAHQ subscales (acceptability, availability, adequacy, and awareness) exhibited higher EI and predictability. Conversely, accessibility and affordability of healthcare services had lower EI and predictability scores. In terms of healthcare utilisation, hospitals, private practices, general practictioners (GPs), mental health professionals, and emergency services demonstrated elevated EI and predictability. Specialists and holistic healthcare providers exhibited lower EI and predictability. Affordability, disease course, as well as hospital, and GP utilisation had elevated BC values and emerged as key connectors between access and utilisation.
This study illuminates the intricate dynamics of healthcare experiences for patients with rare diseases. This work validates network analysis as a valuable tool for examining healthcare systems. Findings can inform policies that address challenges faced by this vulnerable population, namely care integration for individuals with an unstable disease course.
罕见病影响不到两千人中的一人，全球约有4亿人受其影响。高成本、不协调的护理以及医疗服务提供者知识不足给罕见病护理带来了挑战。我们旨在研究瑞士罕见病患者的医疗保健可及性与利用之间的关系。
对314名罕见病患者进行了横断面调查。
参与者完成了医疗保健可及性感知问卷（PAHQ），并提供了医疗保健利用情况（机构和提供者层面）的数据。网络分析评估节点基于预期影响力（EI）、可预测性和桥接中心性（BC）。
PAHQ的四个子量表（可接受性、可获得性、充分性和知晓度）表现出较高的EI和可预测性。相反，医疗服务的可及性和可负担性的EI和可预测性得分较低。在医疗保健利用方面，医院、私人诊所、全科医生（GPs）、心理健康专业人员和急诊服务表现出较高的EI和可预测性。专科医生和整体医疗服务提供者的EI和可预测性较低。可负担性、疾病进程以及医院和全科医生的利用具有较高的BC值，并成为可及性和利用之间的关键连接点。
本研究揭示了罕见病患者医疗保健体验的复杂动态。这项工作验证了网络分析作为研究医疗系统的宝贵工具。研究结果可为解决这一弱势群体面临的挑战的政策提供参考，即针对疾病进程不稳定的个体的护理整合。
