School of Physical & Occupational Therapy, McGill University, Montreal, Canada.
Shriners Hospitals for Children, Montreal, Canada.
Orphanet J Rare Dis. 2024 Jun 14;19(1):235. doi: 10.1186/s13023-024-03224-8.
Arthrogryposis multiplex congenita (AMC) is a group of rare musculoskeletal conditions that is associated with complex healthcare needs and long-term follow up. The literature reports significant direct, indirect, and psychosocial costs for caregivers of children with neuromuscular conditions. Due to mobility limitations and frequent hospital visits, caring for a child with AMC is complex. Other challenges experienced by caregivers include financial strain, job changes, changes in interpersonal relationships and abandonment. This study was aimed at exploring the lived experience of caregivers of children with AMC.
The present study is part of a larger global mixed methods study. In the initial quantitative aspect of the study, caregivers (n = 158) of children and youths with AMC (aged 0-21 years) responded to a cost of care survey on an electronic platform. Of the 158 participants, 13 caregivers then further consented to participate in the qualitative aspect of the study in which a 60-min semi-structured, individual interview was conducted remotely. Open-ended questions were developed to gain a deeper understanding of the direct and indirect costs of care, their impact on the caregivers' lives and the quality of the care-giving experience. Interviews were transcribed, and a coding scheme was developed drawing from both the existing literature and the content of the interviews. A deductive and inductive thematic analysis was used to analyze the qualitative data using the NVivo® qualitative data analysis software.
Five themes describing the experiences of caregivers of children with AMC emerged from the analysis of the qualitative data: 1. Impact of the caregiving experience; 2. Cost of childcare; 3. Support system for care; 4. Managing and navigating care; 5. Supporting the child's growth and development. In addition to the results of the thematic analysis, specific recommendations shared by the caregivers included the need for support groups and provision of support to youths to prepare them for adolescence. These findings will inform resource allocation, policymaking, and support services for children with rare conditions, their caregivers and families.
先天性多发性关节挛缩症（AMC）是一组罕见的肌肉骨骼疾病，患儿通常存在复杂的医疗需求，需要长期随访。文献报道，神经肌肉疾病患儿的照顾者会产生显著的直接、间接和心理社会成本。由于活动受限和频繁的医院就诊，照顾 AMC 患儿的过程较为复杂。照顾者还会面临经济压力、工作变动、人际关系变化和被抛弃等问题。本研究旨在探讨 AMC 患儿照顾者的生活体验。
本研究是一项更大的全球混合方法研究的一部分。在研究的初始定量部分，158 名 AMC 患儿（年龄 0-21 岁）的照顾者通过电子平台对照顾者成本调查问卷做出回应。在 158 名参与者中，有 13 名照顾者进一步同意参与研究的定性部分，通过远程方式进行 60 分钟的半结构化个人访谈。研究设计了开放性问题，以深入了解照顾的直接和间接成本、其对照顾者生活的影响以及照顾体验的质量。访谈内容被转录，并制定了一个编码方案，该方案既参考了现有文献，也参考了访谈内容。使用 NVivo®定性数据分析软件，对定性数据进行了演绎和归纳主题分析。
从定性数据分析中得出了描述 AMC 患儿照顾者体验的 5 个主题：1. 照顾体验的影响；2. 育儿成本；3. 照顾支持系统；4. 管理和导航照顾；5. 支持孩子的成长和发展。除了主题分析的结果外，照顾者还提出了一些具体建议，包括需要支持小组，并为青少年提供支持，以帮助他们做好准备。这些发现将为资源分配、政策制定和为罕见病患儿、其照顾者和家庭提供支持服务提供信息。
