Overview
The prevalence of neurodegenerative diseases will dramatically increase by 2050, with the greatest increases in low- and middle-income countries (LMIC), including Colombia. Alzheimer's disease (AD) contributes to up to 70% of the cases of dementia worldwide. Sensitive cognitive measures that are feasible to implement in low-resource settings are crucial for early detection. Research with genetic causality mutations individuals provides a unique opportunity to perform these investigations. Cognitive preclinical markers for AD have been assessed predominately with classical evaluation (paper-pencil) batteries. Literature has focused on multiple cognitive domains, such as memory, processing speed, and general cognitive ability. However, fewer studies focus on evaluating the validity of digital neuropsychological assessments, which offer numerous advantages, including standardized administration with less training of personnel, automated scoring, and data storage, dynamic stimulus presentation and precise reaction time capture, intuitive (touch) response format, and potential scalability to primary care and other non-expert settings.
Project Details
The TabCAT-Brain Health Assessment (TabCAT-BHA) is a brief (15-minute) neuropsychological, multidomain, tablet-based tool used to assess various stages of neurodegenerative diseases across different contexts and languages. Research has shown its sensitivity to early disease stages (MCI) in both English and Spanish speakers, as well as its ability to track changes over time in patients and amyloid-positive (PET) healthy controls.
Evaluating its validity in asymptomatic carriers of a causal Alzheimer’s disease (AD) mutation provides a unique opportunity to explore its potential as a preclinical marker. This project builds on work in Colombia, home to the world’s largest known kindred, with over 6,000 members—including 1,200 carriers of the presenilin 1 mutation variant E280A. With its autosomal dominant inheritance pattern, all carriers develop AD at an early age (44–49).
Traditional neuropsychological assessments, such as the CERAD-COL battery (a 25-minute specialist-administered test), have demonstrated the ability to differentiate between asymptomatic carriers and non-carriers as early as age 32. However, there is limited evidence on whether shorter, digital tools like TabCAT-BHA provide the same sensitivity. This study aims to determine its diagnostic accuracy in this context.
This project also highlights the contributions of Stella Valencia, a doctoral student in Colombia, whose expertise is instrumental in bridging local knowledge and global research. By leveraging her deep understanding of the local population and culture, we can enhance the assessment’s applicability and relevance.