Daker-White Gavin, Ealing John, Greenfield Julie, Kingston Helen, Sanders Caroline, Payne Katherine
Centre for Primary Care, The University of Manchester, Manchester, UK.
Salford Royal NHS Foundation Trust, Salford, UK.
SAGE Open Med. 2013 Sep 28;1:2050312113505560. doi: 10.1177/2050312113505560. eCollection 2013.
An exploratory investigation of diagnosis and management in progressive ataxias: rare neurological conditions usually affecting balance, mobility and speech.
A longitudinal qualitative study into the experiences of people with ataxia and neurologists. Thematic analysis and follow-up interviews were used to determine diagnosis and management issues over time.
People with ataxia recruited via two hospital departments and Ataxia UK were interviewed at baseline (n = 38) and 12-month follow-up (n = 31). Eight consultant neurologists were interviewed once. Patient accounts were diverse, but many expressed frustration at having an incurable condition and dissatisfaction with service outcomes. At follow-up, there was variation in their contact and satisfaction with helping agencies. Service issues regarding continuity of care and the primary/secondary care interface were evident. Neurologists' accounts also varied. One-half reported that there is nothing that can be done, and one-half favoured specialist referral to increase the likelihood of finding an underlying aetiology within budget constraints.
Diagnostic uncertainties existing at baseline remained for patients at follow-up interviews, although some had learned to deal with the uncertainties brought by the diagnosis of a largely untreatable condition. Care pathways only seemed to operate in the case of defined conditions, such as Friedreich's Ataxia, the most commonly inherited cause. The findings point to a need to develop the evidence base to inform the relative utility of diagnostic procedures in the context of finite resources for patient care and support.
对进行性共济失调的诊断和管理进行探索性调查，进行性共济失调是通常影响平衡、行动能力和言语的罕见神经系统疾病。
对共济失调患者和神经科医生的经历进行纵向定性研究。采用主题分析和随访访谈来确定一段时间内的诊断和管理问题。
通过两个医院科室和英国共济失调协会招募的共济失调患者在基线时（n = 38）和12个月随访时（n = 31）接受了访谈。八位神经科顾问医生接受了一次访谈。患者的情况各不相同，但许多人对患有无法治愈的疾病表示沮丧，对服务结果不满意。在随访中，他们与帮助机构的联系和满意度存在差异。护理连续性和初级/二级护理衔接方面的服务问题很明显。神经科医生的情况也各不相同。一半人报告说无能为力，另一半人则赞成进行专科转诊，以增加在预算限制内找到潜在病因的可能性。
尽管一些患者已经学会应对由基本无法治疗的疾病诊断带来的不确定性，但在随访访谈中，患者在基线时存在的诊断不确定性依然存在。护理途径似乎仅在特定疾病（如最常见的遗传性病因弗里德赖希共济失调）的情况下发挥作用。研究结果表明，需要建立证据基础，以便在用于患者护理和支持的资源有限的情况下，为诊断程序的相对效用提供依据。
