Rogers Miranda, Motola Stéphane, Bechichi Yacine, Cluzeau Céline, Terray Tanguy, Berent Allyson, Panagoulias Jennifer, Duis Jessica, Eggenspieler Damien, Servais Laurent
Department of Paediatrics, MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford OX1 2JD, UK.
Sysnav Co., 27200 Vernon, France.
Children (Basel). 2023 Aug 28;10(9):1462. doi: 10.3390/children10091462.
Previous patient-centered concept models of Angelman syndrome (AS) are integral in developing our understanding of the symptoms and impact of this condition with a holistic perspective and have highlighted the importance of motor function. We aimed to develop the motor and movement aspects of the concept models, to support research regarding motor-related digital outcomes aligned with patients' and caregivers' perspectives. We conducted a qualitative analysis of semi-structured interviews of 24 caregivers to explore AS motor-related features, factors influencing them and their impact on patients and caregivers.The most impacted motor features were gait, walking and stair-climbing. Half of caregivers ranked motor symptoms as one of the most burdensome symptoms of AS. Caregivers frequently reported physical therapy, motivation, medical management and age as factors influencing motor function in AS and reported that impaired motor function affected both patients and caregivers. Measures of lower-limb motor function were identified as relevant to monitor drug effectiveness in AS. Caregivers discussed expected benefits of a digital outcome and potential issues with wearable technology in the context of AS. We propose a new motor function patient-centered concept model, providing insights for the development of relevant, motor-related, digital outcomes in AS.
先前以患者为中心的天使综合征（AS）概念模型对于我们从整体角度理解该病症的症状和影响不可或缺，并突出了运动功能的重要性。我们旨在完善概念模型中的运动和动作方面，以支持与患者及照料者观点一致的、与运动相关的数字成果研究。我们对24名照料者的半结构化访谈进行了定性分析，以探究AS与运动相关的特征、影响这些特征的因素及其对患者和照料者的影响。受影响最大的运动特征是步态、行走和爬楼梯。一半的照料者将运动症状列为AS最具负担的症状之一。照料者经常报告物理治疗、动机、医疗管理和年龄是影响AS运动功能的因素，并表示运动功能受损对患者和照料者都有影响。下肢运动功能测量被确定为监测AS药物疗效的相关指标。照料者讨论了数字成果的预期益处以及AS背景下可穿戴技术的潜在问题。我们提出了一个新的以患者为中心的运动功能概念模型，为AS中相关的、与运动相关的数字成果的开发提供见解。
