Khan Munira, Cassidy Elizabeth, Parkin Tracey, Wallace Amanda, Carter Bernie, Whitehouse William, Munro James, Paton Joanne, Bunn Lisa
Faculty of Health, University of Plymouth, Plymouth, UK.
Cicely Saunders Institute of Palliative Care, Policy & Rehabilitation, King's College London, London, UK.
Orphanet J Rare Dis. 2025 Aug 4;20(1):397. doi: 10.1186/s13023-025-03919-6.
Ataxia telangiectasia (A-T) is a rare genetic and progressive condition, primarily affecting the neurological, immunological, and pulmonary systems. In the absence of a cure, people living with A-T require co-ordinated multidisciplinary care to manage their complex needs. This often leads to families working with a range of different professionals and feeling burdened by the amount of information and coordination of care that they manage. With the aim to inform the co-production of a family-owned healthcare pack to promote person-centered care and self-management, this study explored the views of children with A-T and parents of children and young people with A-T about the utility, acceptability, design, and content of this pack.
A total of two children and eight parents participated in one pilot interview and three focus groups. Using the Framework Method of analysis, three themes were generated offering an insight to the range of participants' views. The first theme, 'accessing, managing, organising, and sharing information with others', broadly highlighted the need for a pack as a valuable resource in the absence of coordinated care and a centralised system of record keeping and information sharing. The second theme, 'pack content', suggested that the pack may serve the dual purpose of storing and retrieving information and helping to communicate and work with other professionals. The third theme, 'design features', investigated the design of the pack and the differences in the views of children who wanted the pack to look like a magazine style booklet, and the parents who preferred an electronic pack or an app.
This study is an important contribution to the current understanding of the experiences of care and management of A-T from the point of view of children with A-T and their parents. Families with a child with A-T struggle with communication and information sharing across and between different professionals. My A-T Pack is a step towards providing families a viable resource for effective record keeping, symptoms management, and information sharing with relevant professionals involved in the care and management of their child's condition.
共济失调毛细血管扩张症（A-T）是一种罕见的遗传性进行性疾病，主要影响神经、免疫和呼吸系统。由于尚无治愈方法，患有A-T的患者需要协调多学科护理来满足其复杂需求。这通常导致家庭与一系列不同的专业人员合作，并因他们所处理的信息量和护理协调工作而感到负担沉重。为了为共同制作一个家庭医疗包提供信息，以促进以人为本的护理和自我管理，本研究探讨了患有A-T的儿童以及患有A-T的儿童和青少年的父母对该医疗包的实用性、可接受性、设计和内容的看法。
共有两名儿童和八名家长参加了一次试点访谈和三个焦点小组。使用框架分析法，生成了三个主题，深入了解了参与者的各种观点。第一个主题是“与他人获取、管理、组织和共享信息”，广泛强调了在缺乏协调护理以及集中记录保存和信息共享系统的情况下，医疗包作为宝贵资源的必要性。第二个主题是“医疗包内容”，表明医疗包可能具有存储和检索信息以及帮助与其他专业人员沟通和合作的双重目的。第三个主题是“设计特点”，研究了医疗包的设计以及希望医疗包看起来像杂志式小册子的儿童与更喜欢电子医疗包或应用程序的家长之间观点的差异。
本研究从患有A-T的儿童及其父母的角度，对当前对A-T护理和管理经验的理解做出了重要贡献。患有A-T儿童的家庭在不同专业人员之间以及跨专业人员进行沟通和信息共享方面存在困难。“我的A-T医疗包”朝着为家庭提供一个可行的资源迈出了一步，用于有效的记录保存、症状管理以及与参与其孩子病情护理和管理的相关专业人员共享信息。
