背景:先进疗法为治疗儿童罕见神经系统疾病(RNDs)提供了前所未有的机会。然而,健康素养,对新疗法的认知和理解需要整个RND社区的阐明。这项研究探讨了医疗保健专业人员和护理人员对儿童期发病的RND先进疗法的看法。
方法:在这项混合方法的横断面研究中,20名医疗保健专业人员(临床医生,遗传顾问和科学家)和20名护理人员完成了定性的半结构化访谈和定制设计的调查。护理人员进行了经过验证的心理社会问卷。随后进行专题和定量数据分析。
结果:参与者描述了对先进疗法的高度积极兴趣,但是知识很少,和访问,可靠的信息。在五个关键主题中认识到RND常见的实质性“治疗差距”和“治疗性冒险”:(i)未满足的访问需求和紧迫性;(ii)寻求信息;(iii)访问,公平和可持续性;(iv)对护理和支持采取多学科和综合办法;(v)艰难的决策。参与者有动力加强RND临床试验活动并获得先进的治疗方法;然而,围绕知情同意的担忧,首次人体试验和临床试验程序很明显.尽管存在大量不确定性和知识差距,但仍存在高风险承受能力。死亡率高的RNDs,增加的功能负担和没有替代疗法始终优先用于开发先进的疗法.然而,在优先获得治疗方面几乎没有共识。
结论:本研究强调需要提高临床医生和卫生系统对RNDs先进疗法的临床翻译的准备。共同发展和利用教育和社会心理资源来支持临床决策,设定治疗期望和促进公平,有效和安全地提供先进的治疗是至关重要的。
■在这项形成性研究中,参与者对社会心理负担和信息需求的见解正在为与家庭的持续合作提供信息。包括共同制作和传播心理教育资源,其中包括在悉尼儿童医院网络网站SCHNBrain-AidResources上托管的声音。
BACKGROUND: Advanced therapies offer unprecedented opportunities for treating rare neurological disorders (RNDs) in children. However, health literacy, perceptions and understanding of novel therapies need elucidation across the RND community. This study explored healthcare professionals\' and carers\' perspectives of advanced therapies in childhood-onset RNDs.
METHODS: In this mixed-methodology cross-sectional study, 20 healthcare professionals (clinicians, genetic counsellors and scientists) and 20 carers completed qualitative semistructured interviews and custom-designed surveys. Carers undertook validated psychosocial questionnaires. Thematic and quantitative data analysis followed.
RESULTS: Participants described high positive interest in advanced therapies, but low knowledge of, and access to, reliable information. The substantial \'therapeutic gap\' and \'therapeutic odyssey\' common to RNDs were recognised in five key themes: (i) unmet need and urgency for access; (ii) seeking information; (iii) access, equity and sustainability; (iv) a multidisciplinary and integrated approach to care and support and (v) difficult decision-making. Participants were motivated to intensify RND clinical trial activity and access to advanced therapies; however, concerns around informed consent, first-in-human trials and clinical trial procedures were evident. There was high-risk tolerance despite substantial uncertainties and knowledge gaps. RNDs with high mortality, increased functional burdens and no alternative therapies were consistently prioritised for the development of advanced therapies. However, little consensus existed on prioritisation to treatment access.
CONCLUSIONS: This study highlights the need to increase clinician and health system readiness for the clinical translation of advanced therapeutics for RNDs. Co-development and use of educational and psychosocial resources to support clinical decision-making, set therapeutic expectations and promotion of equitable, effective and safe delivery of advanced therapies are essential.
UNASSIGNED: Participant insights into the psychosocial burden and information need to enhance the delivery of care in this formative study are informing ongoing partnerships with families, including co-production and dissemination of psychoeducational resources featuring their voices hosted on the Sydney Children\'s Hospitals Network website SCHN Brain-Aid Resources.