背景:患有先天性糖基化障碍(CDG)的患者和家庭照顾者承受着沉重的负担,这会影响他们的弹性和生活质量。该研究的目的是使用简短的弹性应对量表来测量患有CDG的患者和家庭护理人员的弹性水平。
方法:我们进行了一项观察,对23例患者和151名患有CDG的家庭护理人员进行横断面研究。进行描述性分析以表征CDG患者和家庭护理人员样本。此外,我们评估了韧性和特定变量之间的相关性(例如,年龄,学术学位,直到诊断的时间),并检查组间的弹性差异(例如,性别,婚姻状况,职业,专业和社会支持)。
结果:GNE肌病是患者中最常见的CDG,而家庭护理人员为PMM2-CDG。两个样本都显示出中等水平的韧性应对得分。与其他CDG患者相比,GNE肌病患者的弹性评分明显更高。CDG患者的心理弹性与文化程度呈正相关。如果家庭照顾者接受任何类型的专业支持或与其他家庭或患有相同或类似疾病的人接触,则他们的弹性应对得分略高。与不受支持的个人相比。
结论:尽管患有像CDG这样的威胁生命的疾病有遗传上的困难,患者和家庭护理人员表现出中等弹性的应对水平。考虑到CDG基因型,弹性评分发生了显著变化,个人的学位和专业和社会支持。这些探索性发现可以通过促进有针对性的干预措施的发展来增强医疗保健系统和私人机构的能力,以提高个人的应对技能并改善CDG社区的整体福祉和心理健康。
BACKGROUND: 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.
METHODS: 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).
RESULTS: 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.
CONCLUSIONS: 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.