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Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia

Title: Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia
Authors: Galluzzi S.; Mega A.; Di Fede G.; Muscio C.; Fascendini S.; Benussi L.; Tagliavini F.; Frisoni G. B.; Di Maria E.; Bonvicini C.; Fostinelli S.; Gennarelli M.; Bizzozzero I.; Catania M.; Prioni S.; Redaelli V.; Rossi G.; Gambini O.; Defanti C. A.; Stefanini S.; Bruni A. C.
Contributors: Galluzzi S.; Mega A.; Di Fede G.; Muscio C.; Fascendini S.; Benussi L.; Tagliavini F.; Frisoni G. B.; Di Maria E.; Bonvicini C.; Fostinelli S.; Gennarelli M.; Bizzozzero I.; Catania M.; Prioni S.; Redaelli V.; Rossi G.; Gambini O.; Defanti C. A.; Stefanini S.; Bruni A. C.
Publication Year: 2022
Collection: Università degli Studi di Brescia: OPENBS - Open Archive UniBS
Subject Terms: Alzheimer disease; frontotemporal dementia; genetic counseling; genetic testing; psychological outcomes
Description: 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 PSEN2, 4 in GRN). Carriers showed higher score on the Resilience Scale for Adults (RSA) - social competence, and on Multidimensional Health Locus of Control - internal, than noncarriers (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 case 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.
Document Type: article in journal/newspaper
Language: English
Relation: info:eu-repo/semantics/altIdentifier/pmid/35293381; info:eu-repo/semantics/altIdentifier/wos/WOS:000965467900004; volume:36; issue:2; firstpage:118; lastpage:124; numberofpages:7; journal:ALZHEIMER DISEASE & ASSOCIATED DISORDERS; https://hdl.handle.net/11379/604785
DOI: 10.1097/WAD.0000000000000494
Availability: https://hdl.handle.net/11379/604785; https://doi.org/10.1097/WAD.0000000000000494
Accession Number: edsbas.84071C69
Database: BASE