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Clinical Manifestations.

Pablo Miguel Bagnati1, David Aguillon2, Marisol Londoño Castaño3

  • 1Fleni, Buenos Aires, Buenos Aires, Argentina.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 24, 2025
PubMed
Summary
This summary is machine-generated.

Genetic testing for Autosomal Dominant Alzheimer's Disease (ADAD) in Latin America showed no significant psychological distress, even for mutation-positive individuals. Culturally adapted protocols ensure genetic counseling and testing are well-tolerated.

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Area of Science:

  • Medical Genetics
  • Neuroscience
  • Psychology

Background:

  • Autosomal Dominant Alzheimer's Disease (ADAD) genetic counseling and testing (GTC) protocols require cultural and regional adaptations for Latin America.
  • Limited data exists on the decision-making factors for genetic testing in Latin American Low and Middle-Income Countries (LMICs) compared to High-Income Countries (HICs).

Purpose of the Study:

  • To evaluate the psychosocial impact of a tailored GTC protocol for families at risk of ADAD in Latin America.
  • To investigate the psychological effects of learning genetic status in asymptomatic individuals from ADAD families.

Main Methods:

  • A non-randomized controlled trial was conducted in Colombia and Argentina.
  • Participants underwent a GTC protocol, with outcomes measured using validated depression and anxiety scales.
  • Comparisons were made between those who learned their genetic status and those who did not, and between mutation-positive and mutation-negative individuals.

Main Results:

  • No clinically significant differences in psychological distress were observed between individuals who learned their genetic status and those who did not.
  • Mutation-positive carriers who learned their status showed a statistically significant increase in depression scores, but remained below clinical significance thresholds.
  • The GTC protocol, including screening, education, counseling, and follow-up, was well-tolerated.

Conclusions:

  • Genetic testing for ADAD is psychologically well-tolerated in Latin America when implemented with a comprehensive GTC protocol.
  • The study provides valuable insights into the psychological impact of familial AD genetic testing in a LMIC context.
  • Culturally adapted GTC protocols are effective and can be safely implemented in diverse regions.