CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, Universidade NOVA de Lisboa, 2819-516, Caparica, Portugal.
Centro de Investigação Em Ciência Psicológica (CICPSI), Faculdade de Psicologia, Universidade de Lisboa, Alameda da Universidade, 1649-013, Lisbon, Portugal.
Orphanet J Rare Dis. 2024 Mar 4;19(1):98. doi: 10.1186/s13023-024-03043-x.
Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life. The study's purpose was to measure the resilience levels of patients and family caregivers living with CDG using the brief resilience coping scale.
We conducted an observational, cross-sectional study with 23 patients and 151 family caregivers living with CDG. Descriptive analyses were performed to characterize patients with CDG and family caregivers' samples. Additionally, we assessed correlations between resilience and specific variables (e.g., age, academic degree, time until diagnosis) and examined resilience differences between groups (e.g., sex, marital status, occupation, professional and social support).
GNE myopathy was the most prevalent CDG among patients, while in family caregivers was PMM2-CDG. Both samples showed medium levels of resilience coping scores. Individuals with GNE myopathy had significantly higher scores of resilience compared to patients with other CDG. Resilience was positively correlated with educational degree in patients with CDG. Family caregivers had marginally significant higher scores of resilience coping if they received any kind of professional support or had contact with other families or people with the same or similar disease, compared with unsupported individuals.
Despite the inherited difficulties of living with a life-threatening disease like CDG, patients and family caregivers showed medium resilient coping levels. Resilience scores changed significantly considering the CDG genotype, individual's academic degree and professional and social support. These exploratory findings can empower the healthcare system and private institutions by promoting the development of targeted interventions to enhance individuals` coping skills and improve the overall well-being and mental health of the CDG community.
患有先天性糖基化障碍（CDG）的患者及其家属承受着沉重的负担，这可能影响他们的适应能力和生活质量。本研究旨在使用简短的适应应对量表测量患有 CDG 的患者及其家属的适应能力水平。
我们进行了一项观察性、横断面研究，纳入了 23 名患者和 151 名患有 CDG 的家属。进行描述性分析以描述 CDG 患者和家属的样本特征。此外，我们评估了适应能力与特定变量（例如年龄、学历、诊断时间）之间的相关性，并检查了不同组之间的适应能力差异（例如性别、婚姻状况、职业、专业和社会支持）。
GNE 肌病是患者中最常见的 CDG，而 PMM2-CDG 则是家属中最常见的 CDG。两个样本的适应应对评分均处于中等水平。患有 GNE 肌病的个体的适应能力评分明显高于患有其他 CDG 的患者。在 CDG 患者中，适应能力与教育程度呈正相关。与未获得支持的个体相比，如果家属获得任何形式的专业支持或与其他家庭或患有相同或类似疾病的人有联系，则其适应应对评分更高，但差异仅具有边缘统计学意义。
尽管患有 CDG 等危及生命的疾病带来了遗传上的困难，但患者及其家属表现出中等水平的适应能力。考虑到 CDG 基因型、个体的学历以及专业和社会支持，适应能力评分发生了显著变化。这些探索性发现可以为医疗保健系统和私营机构提供支持，通过促进制定有针对性的干预措施来增强个体的应对技能，从而改善 CDG 患者群体的整体幸福感和心理健康。
