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Video
Adapting Cognitive Tools for Clinical Trials in Down Syndrome: Elizabeth Head, PhD
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The professor in the Department of Pathology and Laboratory Medicine at the University of California, Irvine, gave clinical insights on efforts to refine neuropsychological outcome measures for individuals with Down syndrome at risk for Alzheimer disease. [WATCH TIME: 3 minutes]
WATCH TIME: 3 minutes
"It's not a simple amyloid precursor protein story—there are so many triplicated genes on chromosome 21, and we don't yet know what they’re all contributing."
People with Down syndrome (DS) are at significantly increased risk for developing Alzheimer disease (AD), with nearly all adults showing neuropathological hallmarks of AD–such as amyloid plaques and neurofibrillary tangles–by age 40. Despite the increased rates, the clinical diagnosis of AD in DS can be more complex, due to overlapping features with baseline intellectual disability and aging-related changes. This intersection of conditions has driven a specialized field of research focused on identifying biomarkers, tailored outcome measures, and targeted therapies for AD in the DS population.
At the 2025 AD/PD International Conference on Alzheimer’s and Parkinson’s Diseases, held April 1-5 in Vienna, Austria, Elizabeth Head, PhD, presented on research and trial updates from the Alzheimer Biomarker Consortium-Down Syndrome (ABS-DS). During her presentation, she spoke on the recent advances in clinical trial design for people with DS, including alterations and new changes to sensitive cognitive outcome measures. Head, a professor in the Department of Pathology and Laboratory Medicine at the University of California, Irvine, also emphasized the unmet areas of need for people with DS, as well as the awareness of AD in this patient population.
In an interview with NeurologyLive®, Head spoke on the efforts she and her team have made in identifying appropriate, more applicable cognitive outcome measures for people with DS. Drawing from decades of empirical work, she discussed how the field has gradually adapted tools–many informant-based or tailored for nonverbal individuals–to better detect cognitive changes in a population with pre-existing intellectual disability. She also spoke on the complexities of parsing neurodevelopmental traits from emerging dementia symptoms, especially in light of overlapping conditions and the diverse genetic contributions from chromosome 21.
