Division of Metabolism, Children's Research Centre, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, Zürich, 8032, Switzerland.
Department of Psychosomatics and Psychiatry, University Children's Hospital Zurich, Steinwiesstrasse 75, Zurich, 8032, Switzerland.
Orphanet J Rare Dis. 2024 Sep 28;19(1):358. doi: 10.1186/s13023-024-03368-7.
Children and adolescents with Pompe disease (PD) face chronic and progressive myopathy requiring time-intensive enzyme replacement therapy (ERT). Little is known about their perspectives on the disease and its treatment. This study explored their perceptions of disease symptoms and functioning status, and more subjective feelings about the impacts on their lives as part of developing a disease-specific questionnaire.
Eleven pediatric patients aged 8-18 years and 26 caregivers from six children's hospitals in Germany, Austria, and Switzerland underwent semi-structured interviews. Data were recorded, transcribed using MAXQDA software, and analyzed using qualitative content analysis. A system of meaningful categories was developed.
Sixteen main categories were derived across four major thematic areas: perceptions of symptoms and limitations, experiences to do with the biopsychosocial impact of PD, treatment experiences, and general emotional well-being/burden. Participants demonstrated broad heterogeneity in symptom perceptions such as muscle weakness, breathing difficulties, pain, and fatigue. Emotional appraisals of limitations were not directly proportional to their severity, and even comparatively minor impairments were often experienced as highly frustrating, particularly for social reasons. The main psychosocial topics were social exclusion vs. inclusion and experiences to do with having a disease. The main finding regarding treatment was that switching ERT from hospital to home was widely viewed as a huge relief, reducing the impact on daily life and the burden of infusions. Emotional well-being ranged from not burdened to very happy in most children and adolescents, including the most severely affected.
This study provided qualitative insights into the perceptions and experiences of pediatric PD patients. Interestingly, biopsychosocial burden was not directly related to disease severity, and tailored psychosocial support could improve health-related quality of life. The present findings ensure the content validity of a novel questionnaire to be tested as a screening tool to identify patients in need of such support.
儿童和青少年庞贝病（PD）面临着慢性和进行性肌病，需要密集的酶替代疗法（ERT）。对于他们对疾病及其治疗的看法，我们知之甚少。本研究通过探讨他们对疾病症状和功能状态的看法，以及对生活影响的更主观感受，旨在开发一种疾病特异性问卷，以了解他们的看法。
11 名年龄在 8-18 岁的儿科患者和来自德国、奥地利和瑞士六家儿童医院的 26 名护理人员接受了半结构化访谈。使用 MAXQDA 软件对数据进行记录、转录，并进行定性内容分析。开发了一套有意义的分类系统。
在四个主要主题领域中得出了 16 个主要类别：对症状和限制的看法、与 PD 的生物心理社会影响有关的经历、治疗经历以及整体情绪健康/负担。参与者对肌肉无力、呼吸困难、疼痛和疲劳等症状的感知表现出广泛的异质性。对限制的情绪评估与疾病的严重程度不成正比，即使是相对较小的损伤也常被认为非常令人沮丧，尤其是社交方面。主要的社会心理主题是社会排斥与社会包容以及与疾病有关的经历。关于治疗的主要发现是，将 ERT 从医院转移到家庭被广泛认为是一种巨大的解脱，可以减少对日常生活和输注负担的影响。大多数儿童和青少年的情绪健康状况从没有负担到非常快乐不等，包括病情最严重的患者。
本研究提供了关于儿科 PD 患者的看法和经历的定性见解。有趣的是，生物心理社会负担与疾病的严重程度没有直接关系，而量身定制的社会心理支持可以提高健康相关的生活质量。目前的研究结果确保了一种新型问卷的内容有效性，该问卷将作为一种筛选工具进行测试，以确定需要这种支持的患者。
