Cognitive, clinical and genetic characterization of dementia in Cali, Colombia: A pilot study in a diverse population

Abstract Background The aging population and the prevalence of dementia are rapidly growing in Latin America. People with dementia are underdiagnosed and not well characterized in this region. The scenario is complicated by limited options for culturally proper testing and Latinos' socio‐biological and phenotypic diversity, which affect dementia presentation. In Cali, frontotemporal dementia (FTD) is misdiagnosed as a psychiatric disorder in >70% of cases. Delay in the accurate diagnosis and misdiagnosis of dementia affects genetic counseling, treatment, prognosis, and caregiver burden. Furthermore, most of the discovery efforts in genetics are based on data from populations of European ancestry. This bias in representation can exacerbate existing disease and healthcare disparities. Innovative technology for neuropsychological assessment could help make an early and accurate diagnosis. Genetic analysis is novel in this region, and the proposed work lays the basis for the genomic studies we advocate for. Method We will evaluate the accuracy of the TabCAT cognitive tests for the identification of cognitive impairment in participants previously diagnosed with FTD (N = 20), AD (N = 20), and healthy controls (N = 40). We also will assess the NPI. In addition, we will collect family history information for neurodegenerative diseases, genome sequencing of the sample. Result We hypothesize that the TabCAT evaluation will show sensitivity and specificity >.80 for detecting cognitive impairment, exceeding the accuracy of standard cognitive screenings, such as the Montreal Cognitive Assessment (MoCA). The assessment will be similarly accurate for detecting cognitive impairment in AD and bvFTD, each separately compared to controls. For participants with bvFTD, the NPI will improve the classification of bvFTD from controls and AD, above and beyond the cognitive tests. We hypothesize that 10‐20% of the participants will have a family history of dementia and be identified with genetic risk for neurodegenerative diseases. Conclusion This pilot lays the groundwork to establish a new site for ReDLat, a consortium of multiple partners to expand dementia research in Latin America and the Caribbean. Assessing this underrepresented population, we will contribute to an accurate characterization of dementia in Colombia, which will improve dementia diagnosis and reduce health inequities in this region.