Patients' experiences of Parkinson's disease: a qualitative study in glucocerebrosidase and idiopathic Parkinson's disease
Patients' experiences of Parkinson's disease: a qualitative study in glucocerebrosidase and idiopathic Parkinson's disease
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DOI：
10.1186/s41687-020-00230-9
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发表时间：
2020-08-05
影响因子：
2.7
通讯作者：
Reaney, M.
中科院分区：
文献类型：
--
作者：
Bonner, N.;Bozzi, S.;Reaney, M.
大约7-10%的帕金森病（PD）患者携带GBA（葡萄糖脑苷脂酶）突变（GBA-PD患者），这可能影响疾病的临床病程。目的本研究旨在探讨GBA-PD患者的经验，并确定最重要的症状和影响，为临床试验测量策略提供信息。方法20名PD患者（n = 15 GBA-PD; n = 5特发性PD）参加了定性访谈，探讨自发报告或通过文献综述识别的概念。与五位临床专家的电话访谈包括对来自文献的初步概念模型的讨论。对逐字记录本进行了专题分析。结果患者报告的30种症状分为运动、非运动和认知/精神症状。震颤（n = 13）、记忆丧失（n = 13）、僵硬/僵硬（n = 11）和言语问题（n = 11）被认为是GBA-PD患者最重要和最有影响的症状，尽管其他症状也与大多数患者相关。主要影响包括：睡眠障碍（n = 13）、笔迹改变（n = 13）、社交互动减少（n = 12）、运动障碍（n = 10）、抑郁情绪（n = 9）和害怕跌倒（n = 8）。GBA-PD患者报告的关键症状和影响与特发性PD患者报告的一致。临床医生访谈结果支持患者的发现，尽管一些临床医生指出GBA-PD患者可能更早出现认知/精神症状。研究中出现的概念更新了GBA-PD患者疾病经历的概念模型。结论本研究结果提供了对GBA-PD患者经历的深入了解。研究结果证实，与评估GBA-PD相关的概念与评估特发性PD相关的概念一致;然而，在GBA-PD人群中可能需要更多地考虑认知/精神症状。
Background Approximately 7-10% of Parkinson's disease (PD) patients carry a GBA (Glucocerebrosidase) mutation (GBA-PD patients), which may influence the disease's clinical course. Objectives This study aimed to explore the patient experience of GBA-PD and identify the most important symptoms and impacts to inform clinical trial measurement strategies. Methods Twenty PD patients (n = 15 GBA-PD; n = 5 idiopathic-PD) participated in qualitative interviews which explored concepts spontaneously reported or identified through a literature review. Telephone interviews with five expert clinicians included discussion of a preliminary conceptual model derived from literature. Verbatim transcripts were thematically analysed. Results Thirty symptoms reported by patients were categorized as motor, non-motor, and cognitive/psychiatric. Tremor (n = 13), memory loss (n = 13), rigidity/stiffness (n = 11), and speech problems (n = 11) were considered the most important and impactful symptoms by GBA-PD patients, although other symptoms were also relevant to the majority of patients. Key impacts included: sleep disturbances (n = 13), handwriting changes (n = 13), reduced social interaction (n = 12), dyskinesia (n = 10), depressed mood (n = 9), and fear of falling (n = 8). Key symptoms and impacts reported by GBA-PD patients were consistent with those reported by idiopathic-PD patients. Clinician interview results supported the patient findings, although some clinicians indicated that cognitive/psychiatric symptoms may present earlier in GBA-PD patients. The concepts emerging from the research informed updates to a conceptual model of GBA-PD patients' disease experience. Conclusions The findings provide in-depth understanding of the patient experience of GBA-PD. The findings confirm that the concepts relevant to assess in GBA-PD are consistent with those relevant to assess in idiopathic-PD; however, greater consideration of cognitive/psychiatric symptoms may be warranted in GBA-PD populations.