Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
Orphanet J Rare Dis. 2013 Feb 28;8:38. doi: 10.1186/1750-1172-8-38.
Friedreich's Ataxia (FRDA) is a neurodegenerative disorder that causes progressive damage to the central and peripheral nervous systems having a significant impact upon quality of life. With little information in the literature, cross-sectional observational studies were conducted in the UK and Germany to collect data on resource use and the burden of the disease on individuals and their caregivers.
Cross-sectional observational studies were conducted in the UK and Germany to estimate the burden of FRDA on individuals and on the respective healthcare systems. A total of 75 individuals in the UK and 28 in Germany were recruited to the study. Participants in both countries were asked to complete a Patient and Caregiver Information Form (PCIF), regarding access to, and use of, healthcare resources, and the impact FRDA has on their lifestyle. In Germany, doctors were asked to complete a Patient Record Form (PRF). Analyses of annual direct and indirect resource utilization were conducted for both countries while costs were calculated for the UK only. These figures were compared to the costs associated with Parkinson's disease; one of the most common neurodegenerative conditions and the one most similar in terms of disease progression.
The results showed that the annual burden of FRDA is significant and falls on the health and social care sectors, on society, on caregivers and on the individuals themselves. In the UK FRDA had a total annual cost per person of between £11,818 and £18,774 depending on whether the cost of long-term unemployment was included.Typically the largest component of direct costs is associated with professional care. Given the high proportion of children and young adults recruited and the long disease duration, (typically 40-50 years for FRDA, compared with 20 years for Parkinson's disease), these figures may underestimate the true burden of the disease.
It is hoped that these estimates of resource utilization, can help in understanding the previously unquantified burden of FRDA. Given the long disease duration, management strategies should seek to minimise the impact of the condition on individuals and their caregivers, while maximising quality of life.
弗里德赖希共济失调症（FRDA）是一种神经退行性疾病，会导致中枢和外周神经系统进行性损伤，对生活质量有重大影响。由于文献中信息较少，在英国和德国进行了横断面观察性研究，以收集有关资源利用和疾病对个人及其护理人员负担的数据。
在英国和德国进行了横断面观察性研究，以估计 FRDA 对个人和各自医疗保健系统的负担。共有 75 名英国人和 28 名德国人被招募到这项研究中。两国的参与者都被要求填写一份患者和护理人员信息表（PCIF），内容涉及获得和使用医疗资源的情况，以及 FRDA 对他们生活方式的影响。在德国，医生被要求填写一份患者记录表（PRF）。对两国的年度直接和间接资源利用情况进行了分析，而仅对英国计算了成本。这些数字与帕金森病相关的成本进行了比较；帕金森病是最常见的神经退行性疾病之一，在疾病进展方面最为相似。
结果表明，FRDA 的年度负担很大，落在卫生和社会保健部门、社会、护理人员和个人身上。在英国，FRDA 每人每年的总成本在 11818 英镑至 18774 英镑之间，具体取决于是否包括长期失业成本。直接成本的最大组成部分通常与专业护理有关。鉴于招募了大量儿童和年轻人，以及疾病的长病程（FRDA 通常为 40-50 年，而帕金森病为 20 年），这些数字可能低估了疾病的真实负担。
希望这些资源利用的估计可以帮助了解以前无法量化的 FRDA 负担。鉴于疾病的长病程，管理策略应旨在尽量减少疾病对个人及其护理人员的影响，同时最大限度地提高生活质量。
