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.
Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia
Galluzzi S.;Tagliavini F.;Gennarelli M.;Stefanini S.;
2022-01-01
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 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
