Ju Shaowen, Cowley Laura, Jain Ishan, Martin Vanessa, Day Ellie, Smith Rona, Morgan Tessa
University of Cambridge, Cambridge, UK
University of Cambridge Clinical School, Cambridge, UK.
BMJ Open Qual. 2025 Aug 28;14(3):e003383. doi: 10.1136/bmjoq-2025-003383.
Neurofibromatosis type 1 (NF1), a rare genetic disorder characterised by neurofibroma growth, affects approximately 25 000 individuals in the UK. Its wide range of clinical manifestations presents significant challenges in providing comprehensive care for patients. In agreement with National Health Service England's Commissioners, Childhood Tumour Trust initiated a patient-led service evaluation to understand existing care pathways and identify factors influencing patient satisfaction.
The study was coproduced with patient charities, clinicians and the Patient Led Research Hub. Online surveys were composed for patients, families, carers (PFCs) and healthcare professionals (HCPs) and disseminated through charity and healthcare networks. Structured features were analysed using descriptive statistics to review pathways and examine correlations with care satisfaction. Free-text responses were coded and analysed thematically to explore PFCs' and HPCs' experiences.
A total of 1083 PFC and 94 HCP responses were received from across the UK (783 and 49 were complete, respectively). Overall, 54% PFCs expressed dissatisfaction with NF1 care. While London had a significantly higher satisfaction rate (64%; p=0.01) than the national average, Scotland (30%, p=0.01) and Northern Ireland (16%, p=0.01) had significantly lower rates. Influencing factors included poor care coordination, long specialist wait times and insufficient signposting to charities. Regarding diagnosis and management, 46 HCP roles, 35 referral routes and 16 sources of management guidelines were identified, indicating a lack of clear pathways and care standardisation. Free-text data revealed additional challenges, including limited education and information for families, low NF1 awareness among professionals, inequitable access to specialists and a desire for holistic care.
This evaluation revealed UK-wide dissatisfaction with NF1 care and a pressing need for system-level changes to improve regional disparities and care coordination, enhance patient education and HCP training and establish standardised pathways with a holistic model to enable high-quality equitable care for all NF1 patients.
1型神经纤维瘤病（NF1）是一种罕见的遗传性疾病，其特征为神经纤维瘤生长，在英国约有25000人受其影响。其广泛的临床表现给为患者提供全面护理带来了重大挑战。与英国国家医疗服务体系（National Health Service England）的专员达成一致后，儿童肿瘤信托基金发起了一项由患者主导的服务评估，以了解现有的护理途径并确定影响患者满意度的因素。
该研究是与患者慈善机构、临床医生和患者主导研究中心共同开展的。针对患者、家属、护理人员（PFC）和医疗保健专业人员（HCP）设计了在线调查问卷，并通过慈善和医疗网络进行传播。使用描述性统计分析结构化特征，以审查护理途径并检查与护理满意度的相关性。对自由文本回复进行编码并进行主题分析，以探索PFC和HPC的经历。
共收到来自英国各地的1083份PFC回复和94份HCP回复（分别有783份和49份完整回复）。总体而言，54%的PFC对NF1护理表示不满。虽然伦敦的满意度（64%；p=0.01）显著高于全国平均水平，但苏格兰（30%，p=0.01）和北爱尔兰（16%，p=0.01）的满意度则显著较低。影响因素包括护理协调不佳、专科等待时间长以及对慈善机构的指引不足。在诊断和管理方面，确定了46个HCP角色、35条转诊途径和16个管理指南来源，这表明缺乏明确的护理途径和护理标准化。自由文本数据揭示了其他挑战，包括家庭获得的教育和信息有限、专业人员对NF1的认识较低、获得专科医生的机会不平等以及对整体护理的需求。
该评估揭示了全英国对NF1护理的不满，迫切需要进行系统层面的变革，以改善地区差异和护理协调，加强患者教育和HCP培训，并建立一个整体模式的标准化护理途径，为所有NF1患者提供高质量的公平护理。
