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早发性阿尔茨海默病患者因 PSEN1-E280A 突变导致的生活质量。

Quality of life in early-onset Alzheimer's disease due to a PSEN1-E280A mutation.

机构信息

Grupo de Neurociencias de Antioquia, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.

Grupo de Investigación en Epidemiología y Bioestadística, Universidad CES, Medellín, Colombia.

出版信息

Neurol Sci. 2021 Nov;42(11):4637-4645. doi: 10.1007/s10072-021-05136-y. Epub 2021 Mar 5.

Abstract

PURPOSE

The present study aims to explore the association between the quality of life (QoL) score and the clinical and sociodemographic variables in patients with the PSEN1-E280A mutation. We also seek to evaluate the differences between the QoL reported by the patients (P-QoL) and the scores reported by the caregivers (C-QoL).

METHODS

An analysis of 75 patients with the PSEN1-E280A mutation with mild cognitive impairment and dementia was performed. We used the Quality of Life in Alzheimer Disease (QoL-AD) survey to evaluate QoL as an outcome and evaluated its association with sociodemographic, lifestyle, clinical, and past medical history variables.

RESULTS

The largest difference in the median of the QoL-AD score was in those who needed help to eat, those with moderate or severe dementia, those classified as frail or pre-frail, those with moderate social risk, and those with depression. Also, C-QoL was lower than the P-QoL, and the QoL-AD of individuals with severe dementia was lower than for milder forms of the disease. Not needing help to eat, not having a stressful situation in the past 3 months, and the years of education were positively correlated with QoL-AD in the linear model.

CONCLUSION

As studies in similar populations with AD, factors with more impact on QoL are those related to loss of functionality and independence. These factors are also associated with variables related to the current literature with the burden of the disease for the caregivers.

摘要

目的

本研究旨在探讨 PSEN1-E280A 突变患者的生活质量(QoL)评分与临床和社会人口统计学变量之间的关系。我们还旨在评估患者报告的生活质量(P-QoL)与护理人员报告的生活质量(C-QoL)之间的差异。

方法

对 75 名患有 PSEN1-E280A 突变且有轻度认知障碍和痴呆的患者进行了分析。我们使用阿尔茨海默病生活质量量表(QoL-AD)来评估生活质量作为结果,并评估其与社会人口统计学、生活方式、临床和既往病史变量的关联。

结果

在需要帮助进食、中重度痴呆、衰弱或虚弱、中度社会风险和抑郁的患者中,QoL-AD 评分的中位数差异最大。此外,C-QoL 低于 P-QoL,重度痴呆患者的 QoL-AD 低于轻度痴呆患者。在线性模型中,不需要帮助进食、过去 3 个月没有压力情况和受教育年限与 QoL-AD 呈正相关。

结论

与 AD 相似人群的研究一样,对 QoL 影响更大的因素是与功能丧失和独立性相关的因素。这些因素还与与疾病负担相关的护理人员的当前文献中的变量相关。

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