Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol.

ABSTRACT:

Aim

Our aim was to evaluate the psychological impact of predictive genetic testing in individuals at-risk for inherited dementia who underwent a structured counseling 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 6 months and 12 months follow-up.

Results

Twenty-four participants from 13 families were included. Sixteen participants underwent blood sampling and genetic analysis; 6 resulted to be carriers of pathogenic variants (1 in PSEN1, 1 in

SUBMITTER: Galluzzi S 

PROVIDER: S-EPMC9132242 | biostudies-literature | 2022 Apr-Jun 01

REPOSITORIES: biostudies-literature