Cultural and genetic factors related to frontotemporal dementia

June 16, 2017 | Autor: Ignacio Zarante | Categoria: Clinical Sciences, Frontotemporal Dementia, Neurosciences
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Presentations P2 impairment, classified according to Clinical Dementia Rating (CDR). The MMSE was applied by the same investigator in two moments, in the presence and absence of caregiver, with mean interval of 3 to 4 months. Results: Twenty three patients met the inclusion criteria and underwent two assessments with mean interval of 99 6 10 days. Seven patients were classified as CDR0.5, eight as CDR1 and eight as CDR2. Mean age was 77 6 6 years old, and mean schooling was 6 6 4 years. The mean MMSE score in the presence of the caregiver was 20 6 6 points, while mean score in caregivers absence was 19 6 6 points (p ¼ 0.58). There was also no statistical difference between the mean MMSE score according caregivers presence or absence among different groups of CDR. Conclusions: In this study, the presence of caregiver did not influence MMSE performance. The sample size is a limiting factor to reach definitive conclusions. Further studies are needed. P2-399

CULTURAL AND GENETIC FACTORS RELATED TO FRONTOTEMPORAL DEMENTIA

Carlos Cano1, Cecilia de Santacruz1, Diana Matallana1, Diego Andres Chavarro Carvajal2, Pablo Reyes3, Ignacio Zarante1, Andrea L opez4, Patricia Montanes5, Carolina Ruiz1, Juan Francisco Galvez1, 1Pontificia Universidad Javeriana, Bogota, Colombia; 2Universidad Nacional de Colombia, Bogota, Colombia; 3San Ignacio Hopsital, Bogota, Colombia; 4Pontifica Universidad Javeriana, Bogota, Colombia; 5Universidad Nacioanal de Colombia - San Ignacio Hospital, Bogota, Colombia. Background: Frontotemporal dementia (FTD) usually appears in the pre senile age, with important implications both in familiar and social. Its etiology is described as polygenic or multifactorial, with some cases having familial aggregation and different genes involved, particularly de MAPT and Progranulin. Methods: Our interdisciplinary team studied 44 Colombian patients with FTD consensus diagnosis and analyzed variables as gender, clinical and functional profiles, Instrumental Activities of Daily Living (IADL) and genetic studies (DNA analysis) sequencing MAPT gene Exon 10 in 34 patients with MegaBace Amersham genetic tool, and sequence analysis with the Chromas lite software. Results: DFT subtypes were distributed in 22 FTD frontal variant, 13 with Primary progressive aphasia, 7 with semantic dementia and 2 Dementias with DFT features with sub threshold diagnosis. 22 of the patients were men (50%) with mean age 63 (range 42-83), had a higher education level (16.73 6 4.11 vs. 12.27 6 5.54, p ¼ 0.004) and higher levels in MMSE (23.33 6 6.64 vs. 17.64 6 9.33, p ¼ 0.026). Women had better statistical significant functional capacities previous to the diagnosis that were rapidly lost during the course of the disease. Executive functions (EF) as “money use” and “medication adherence” declined in all our sample with FTD diagnosis. Others such as “preparing food” or “housekeeping”, declined significantly in women while men seemed to increase these particular AIDL. Six patients had an association with rs3744460 polymorphism, and no mutations for this exon were found in this study. Conclusions: EFS are compromised in DFT patients. Gender differences argue for an important cultural influence in behavioral symptoms and outcome. These findings urges for new methodological approaches to measure changes in functional outcome and preserving some of the AIDL in these sample. EF are compromised in DFT patients, some with gender differences, making clear a cultural influence in the disease manifestations and a search for new research with different methodological approaches that helps us measure functional changes and preservation of AIDL. No mutations in Exon 10 were found for the MAPT gene. In further analysis of sample and variables should give us new clinical information associated with the disease. P2-400

CHARACTERIZATION BY GENDER IN ALZHEIMER’S DISEASE

Carlos Cano1, Cecilia de Santacruz1, Diana Matallana1, Diego Andres Chavarro Carvajal2, Pablo Reyes1, Patricia Montanes3, Carolina Ruiz1, Claudia Irene Giraldo4, Juan Francisco Galvez4, 1Pontificia Universidad Javeriana, Bogota, Colombia; 2Pontificia Unviversidad Javeriana, Bogota, Colombia; 3Universidad Nacional de Colombia /

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Pontificia Universidad Javeriana, Bogota, Colombia; 4Pontificia Unviersidad Javeriana, Bogota, Colombia. Background: Alzheimer’s Disease (AD) is an epidemic disorder, age dependent, and more prevalent in women. It is important to have gender differences as a determinant and important clinical feature to keep in mind. This can help clinicians understand and treat AD from this clinical perspective. Methods: We analyzed San Ignacio’s Hospital Memory outpatients Clinic (Bogota, Colombia) Database including all patients assessed from 1997 to 2010, including all sociodemographic, functional, Lawton scale or Instrumental Activities of Daily Living (IADL)), clinical and neuropsychological assessments. Results: From our database, 860 patients were diagnosed with AD in a mild to moderate stage, 618 (70.9%) were women and 242 (29.1%) men. Women were found to have less educational level (8.22+6.37 vs. 9.83+5.7, p ¼ 0.001) and less MMSE scores (18.63+6.13 vs. 19.79+5.7, p ¼ 0.01). Women had better functionality before the onset of AD (13.03+6.55 IADL vs. 11.89+2.08, p ¼ 0.07), but as the course of AD progresses, this functionality was lost rapidly. Neuropsychologically, verbal semantic and phonological fluency were more preserved in women than men (5,75+3.3 vs. 4.67+2.74, p ¼ 0.02 and 4.18+3.45 vs. 3.35+3.23, p ¼ 0.038). Conclusions: In our sample women diagnosed with AD had lower MMSE than men, probably associated to a lower educational status and opportunities to study in our culture. Nevertheless, women have a better speech functionality and preserved language components during the course of the disease. These results seemed to be related to their fundamental role as oral transmitters in our Latino-American culture, which relates to survival, child nursing and IADL. P2-401

DEPENDENCE AND RESOURCE UTILIZATION IN MCI AND ALZHEIMER’S PATIENTS PARTICIPATING IN THE AIBL STUDY

Kathryn Ellis1, Stacey Walker2, Jo Robertson2, Lisa Mucha3, Joel Bobula4, Ralph Martins5, Colin Masters6, Christopher Rowe7, Cassandra Szoeke8, David Ames9, 1University of Melbourne, Kew, Australia; 2Mental Health Research Institute, Parkville, VIC, Australia; 3Pfizer Inc., Collegeville, Pennsylvania, United States; 4Pfizer Inc., New York, New York, United States; 5Edith Cowan University, Joondalup, WA, Australia; 6University of Melbourne, Melbourne, VIC, Australia; 7Austin Health, University of Melbourne, Heidelberg, VIC, Australia; 8CSIRO, Parkville, VIC, Australia; 9 National Ageing Research Institute, Melbourne, VIC, Australia. Background: Attempts to quantify Alzheimer’s disease (AD) progression, or benefits of treatment, have primarily focused on cognitive, and to a lesser degree, functional endpoints. Decline in these domains invariably leads to increased dependence and resource utlization, and while measures of dependence have been suggested as a mechanism to better understand the health and economic impact of AD they have received limited research attention (McLaughlin et al 2010). Therefore, this study examined patient dependence and resource utilization of AD and mild cognitive impairment (MCI) participants of the Australian Imaging Biomarkers and Lifestyle (AIBL) study. Methods: Caregivers/informants for AD and MCI cases participating in the AIBL 18-month assessment were invited to complete 2 questionnaires; 1) the Patient Dependence on Others questionnaire, and 2) Resource Utilization questionnaire, either in person or by telephone. Results: Questionnaires were completed for 247 of 277 MCI and AD cases (89.5%). 170 respondents (mean age ¼ 71.5, 62% female) were non-paid caregivers/informants. Dependence on frequent activities of daily living (ADL) reminders was significantly higher for AD than MCI cases (86.9% vs 30.3%). Overall, 48.5% of MCI cases required no reminders for ADLs compared to 6.8% of AD cases. Average number of visits to general practitioners over the previous 6 months did not differ between AD [5.4 + 6.4 visits] and MCI cases [4.8 + 6.8 visits], nor did temporary/respite accommodation use (AD: 5.8 + 15.1 days; MCI: 3.3 + 11.7 days). Resource utilization for AD cases was higher than for MCI cases for district nurse visits (5.4 vs 0.1 visits), home help (7.6 vs 1.5 visits) and day care (8.2 vs 0.4 visits), although food delivery service use was similar between groups (3.7 vs 3.5 deliveries). Conclusions: AD cases demonstrated greater dependence and resource utilization than MCI cases. However, more than half of MCI cases

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