Williams Kate, Davidson Ian, Rance Mark, Buesch Katharina, Acaster Sarah
Acaster Lloyd Consulting Ltd, 16 Upper Woburn Place, London, WC1H 0BS, UK.
PTC Therapeutics Ltd, Building 2, Ground Floor, Guildford Business Park, Guildford, UK.
J Patient Rep Outcomes. 2021 Aug 10;5(1):71. doi: 10.1186/s41687-021-00344-8.
Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory individuals aged two years and older. This study explored the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy, as well as the impact of treatment with ataluren on the caregiver experience, using retrospective recall.
Qualitative interviews were conducted with caregivers in the UK. Interviews were conducted by telephone, were recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded.
Ten interviews were conducted with parents of individuals aged 4-19 years. Caregivers reported proximal impacts (physical, emotional, time-related), and distal impacts (work, relationships, social life) of caring for their sons. The relationships between these impacts were illustrated in a conceptual model. Changes to the caregiver experience since initiation with their son's treatment were discussed.
Caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy has a substantial multifaceted impact on caregivers. Treatments which have the potential to improve symptoms or delay progression, may also have a positive impact on the quality of life of caregivers.
杜氏肌营养不良症是一种罕见的遗传性神经肌肉疾病，疾病进展可能导致早期死亡。阿他芦醇适用于治疗年龄在两岁及以上、能行走的无义突变型杜氏肌营养不良症患者。本研究采用回顾性回忆法，探讨了照顾能行走的无义突变型杜氏肌营养不良症患者的影响，以及使用阿他芦醇治疗对照顾者体验的影响。
对英国的照顾者进行了定性访谈。访谈通过电话进行，进行了录音和转录。使用主题分析法对数据进行分析，并记录了饱和度。
对4至19岁患者的父母进行了10次访谈。照顾者报告了照顾儿子的近期影响（身体、情感、时间方面）和远期影响（工作、人际关系、社会生活）。这些影响之间的关系在一个概念模型中得到了说明。讨论了自儿子开始治疗以来照顾者体验的变化。
照顾能行走的无义突变型杜氏肌营养不良症患者对照顾者有多方面的重大影响。有可能改善症状或延缓疾病进展的治疗方法，也可能对照顾者的生活质量产生积极影响。
