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

• Published in: Neurological sciences Vol. 42; no. 11; pp. 4637 - 4645
• Main Authors: Vasquez, Daniel, Castrillón, Melissa Sierra, Vega, Manuela Gomez, Henck, Clara Gomez, Aguillon, David, Garcia-Cifuentes, Elkin, Jaramillo-Jimenez, Alberto, Velez, Juan Esteban, Madrigal, Lucia, Lopera, Francisco
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.11.2021; Springer Nature B.V
• Subjects: Age; Alzheimer Disease - genetics; Alzheimer's disease; Caregivers; Cognitive ability; Dementia; Dementia disorders; Humans; Medicine; Medicine & Public Health; Mutation; Mutation - genetics; Neurodegenerative diseases; Neurology; Neuroradiology; Neurosciences; Neurosurgery; Original Article; Patients; Population studies; Presenilin-1 - genetics; Psychiatry; Quality of Life; Sociodemographics; Familial Alzheimer disease (FAD); Early-onset Alzheimer disease; Dominant Alzheimer disease; Quality of life; Dementia
• ISSN: 1590-1874; 1590-3478; 1590-3478
• DOI: 10.1007/s10072-021-05136-y

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.