Scientific article
Open access

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

Published inAlzheimer disease and associated disorders, vol. 36, no. 2, p. 118-124
First online date2022-03-16

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.

  • Adult
  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics
  • Anxiety / genetics
  • Anxiety / psychology
  • Frontotemporal Dementia / genetics
  • Genetic Testing
  • Humans
  • Quality of Life
Citation (ISO format)
GALLUZZI, Samantha et al. Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol. In: Alzheimer disease and associated disorders, 2022, vol. 36, n° 2, p. 118–124. doi: 10.1097/WAD.0000000000000494
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ISSN of the journal0893-0341

Technical informations

Creation11/16/2022 1:17:44 PM
First validation09/20/2023 3:58:00 PM
Update time09/20/2023 3:58:00 PM
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