Down Syndrome-Basque Alzheimer Initiative (DS-BAI): Clinic-Biological Cohort.

Miren Altuna,Ainara Estanga, Adolfo Garrido,Jon Saldias, Marta Cañada, Maitane Echeverria, José Ángel Larrea, Patricia Ayo, Ainhoa Fiz, María Muñoz, José Santa-Inés, Valeria García-Landarte,Maite García-Sebastián

Journal of Clinical Medicine(2024)

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摘要
BACKGROUND:Down syndrome (DS) is the most common genetically determined intellectual disability. In recent decades, it has experienced an exponential increase in life expectancy, leading to a rise in age-related diseases, including Alzheimer's disease (AD). Specific health plans for the comprehensive care of the DS community are an unmet need, which is crucial for the early and accurate diagnosis of main medical comorbidities. We present the protocol of a newly created clinical and research cohort and its feasibility in real life. METHODS:The Down Syndrome-Basque Alzheimer Initiative (DS-BAI) is a population-based, inclusive, multidisciplinary initiative for the clinical-assistance and clinical-biological research approach to aging in DS led by the CITA-Alzheimer Foundation (Donostia, Basque Country). It aims to achieve the following: (1) provide comprehensive care for adults with DS, (2) optimize access to rigorous and quality training for socio-family and healthcare references, and (3) create a valuable multimodal clinical-biological research platform. RESULTS:During the first year, 114 adults with DS joined the initiative, with 36% of them showing symptoms indicative of AD. Furthermore, adherence to training programs for healthcare professionals and families has been high, and the willingness to collaborate in basic and translational research has been encouraging. CONCLUSION:Specific health plans for DS and conducting clinical and translational research on the challenges of aging, including AD, are necessary and feasible.
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关键词
Down syndrome,intellectual disability,Alzheimer’s disease,biomarkers,aging,cognition
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