Frailty syndrome in early‐onset autosomal dominant Alzheimer disease, in the PSEN1‐E280A kindred

Abstract

Background: Dementia has become a healthcare priority. As no disease-modifying treatment is available, treatment is aimed to act through prevention. Frailty have been defined as a geriatric multidimensional syndrome. Being a treatable condition, interest has raised to describe the relationship between Dementia and Frailty. This study describes frailty in the Autosomal Dominant Alzheimer Disease, through the largest ADAD known group.Method: A total of 75 participants (14 with MCI and 61 with Dementia) were included in this cross sectional study. They underwent a complete assessment that included a standardized clinical examination, neuropsychological evaluation and functional scales. Frailty was assessed through the Short Physical Performance Battery (SPPB) and the Time up and Go Test (TUG) . Multivariate analyses was conducted to evaluate which variables were associated with being frail in presenile onset of ADAD.Result: In the 75 patients who underwent the study, median age was of 49 years old with a cognitive profile of 18.67 % individuals with MCI, 21 % with Mild, 28 % with Moderate and 25 % Severe Dementia. According to the frailty phenotype: 60 % were non-frail and 40 % frail. When analyzing, SPPB and TUG components: Median Gait Speed in MCI and mild dementia groups were statistically significantly lower than moderate and severe dementia (p< 0.005) and significantly greater TUG was found in moderate and severe dementia groups when compared with MCI and mild dementia(p<0.005) Both, clinical severity grouped in moderate -severe dementia (OR 6.85; CI 2.07-22.65 p< 0.000) and hypertension (OR 5.80;) are significantly associated with being frail. Conclusion:This study is the first description of frailty syndrome in ADAD with a presenile onset. The prevalence found in this population is similar than in previous reports in older adults and thus reasserts the adaptability of frailty evaluation in young patients