Italian Dominantly Inherited Alzheimer’s and Frontotemporal Network (IT-DIAfN) dataset
Description
Aim: To evaluate the psychological impact of predictive genetic testing in individuals at-risk for inherited dementia who underwent a structured counselling and testing protocol. Methods: Participants were healthy at-risk relatives from families with at least one affected patient, in whom a disease-associated genetic variant had been ascertained. A comprehensive psychological assessment (personality, anxiety and depression, quality of life, coping strategies, resilience and health-related beliefs) was administered at baseline, at six- and 12-months follow-up. Results: Twenty-four participants from 13 families with were included. Sixteen participants underwent blood sampling and genetic analysis, while 8 withdrew. Six resulted carriers of the pathogenic variant (2 for Alzheimer’s disease, 4 for frontotemporal dementia). They had higher score on the Resilience Scale for Adults (RSA) - social competence, and on Multidimensional Health Locus of Control – internal, than non-carriers (p=0.03 for both). Ten at-risk relatives who completed the follow-up showed improvement in RSA - planned future (p=0.01) with respect to baseline. Discussion: Our clinical series showed that at-risk individuals undergoing predictive testing showed benefit on personal life and no detrimental impact on a broad range of psychological outcomes. Higher social skills and lower internal health locus of control in carriers may be an early psychological correlate of preclinical dementia.