Studying the Connection Between Alzheimer’s and Down Syndrome for Down Syndrome Awareness Month

Woman with Down Syndrome

By Emily Leclerc, Waisman Science Writer

The month of October is Down Syndrome Awareness Month and is dedicated to not only raising awareness about Down syndrome but also to celebrating the abilities and accomplishments of those with Down syndrome. While people with Down syndrome often live long and fruitful lives, the condition does come with increased risks for certain diseases, Alzheimer’s disease being one of them. Due to the extra twenty first chromosome that causes the condition, people with Down syndrome are at greatly increased risk for developing Alzheimer’s during their lifetime. It is estimated that by age 65, 90% of people with Down syndrome will have developed Alzheimer’s.

To better understand Alzheimer’s disease in individuals with Down syndrome, Waisman Center investigator Brad Christian, PhD, a professor of medical physics and psychiatry, is one of four lead investigators in a national, longitudinal, National Institutes of Health-funded study that is investigating the role of biomarkers in the development of Alzheimer’s disease. A total of nine sites are participating in the study with Ben Handen, PhD, of the University of Pittsburg and Elizabeth Head, PhD, and Mark Mapstone, PhD, of the University of California, Irvine accompanying Christian as lead investigators. The study, Alzheimer’s Biomarkers Consortium – Down Syndrome, or ABC-DS, uses positron emission tomography (PET) imaging, magnetic resonance imaging (MRI) and biofluid measures to look for early biomarkers, or changes in the brain, that may herald the onset of Alzheimer’s disease years before a person shows symptoms. The study also includes cognitive evaluations to track the cognitive abilities of participants as a marker for Alzheimer’s disease progression.

ABC-DS is the next stage of another study, the Neurodegeneration in Aging Down Syndrome, where Christian and the Waisman Center were key players. “We are now at the next phase, where the number of study participants has continued to grow to enhance the significance of our findings. We are bringing in additional sites and including roughly 600 individuals [with Down syndrome]. Our goal is to prepare the way for participation in clinical or prevention trials for the treatment of Alzheimer’s disease,” Christian said.

The ABC-DS study will last five years and collect a variety of data in 16-month cycles with the goal of understanding the relationship between Alzheimer’s disease biomarkers and progression as well as how this information can be used to better inform the design of therapeutic clinical trials for both individuals with Down syndrome and the general population.

Christian would like to highlight the important contributions of Waisman Center collaborators Sigan Hartley, PhD, Andrew Alexander, PhD, Renee Makuch and the Wisconsin Alzheimer’s Disease Research Center.