Study Explores Cognitive Resilience in Down Syndrome and Alzheimer's Disease
New Delhi: Research suggests that individuals with Down syndrome (DS) have over a 90% lifetime risk of developing dementia caused by Alzheimer’s disease (AD) as they age. A new study from the University of Pittsburgh's Swanson School of Engineering aims to uncover why some people with DS develop dementia while others do not, providing insights that could benefit the broader DS community.
A recent publication in Alzheimer's & Dementia: The Journal of the Alzheimer's Association, titled “A Neuropathology Case Report of a Woman with Down Syndrome who Remained Cognitively Stable: Implications for Resilience to Neuropathology,” presents findings from an unexpected case of Alzheimer’s disease progression in a woman with Down syndrome.
For ten years, a woman with Down syndrome participated in the Alzheimer Biomarker Consortium - Down Syndrome Research Study (ABC-DS) with a team of investigators, including Elizabeth Head, professor in the department of pathology and laboratory medicine at the University of California, Irvine.
At the time of her passing, she had donated her brain for research. Her brain was studied at the University of Pittsburgh’s 7T Bioengineering Research Program radiofrequency research facility, where Jr-Jiun Liou, a postdoctoral scholar in the department of bioengineering, imaged it using a high-resolution 7 Tesla MRI scanner.
“We are interested in trying to link neuroimaging with neuropathology, because we want to use information from neuropathology datasets to inform diagnostic and therapeutic criteria for individuals with Down syndrome before they pass away,” Liou said.
The final neuroimages Liou reviewed were unexpected. Although the participant was cognitively stable at the time of death, MRI imaging revealed neuropathology indicative of Alzheimer’s disease in her brain. This discrepancy between her cognitive stability and the clinical indicators of Alzheimer's disease raised important questions.
“Before she passed away, all the clinical assessments in our years of studying her indicated that she was cognitively stable, which is why this case is so fascinating,” Liou said. “Despite her brain’s pathology indicating Alzheimer’s, we think that her cognitive stability could have been attributed to her high education level or underlying genetic factors.”
Liou and Head hope that this case study will contribute to improving diagnostic tools and broadening inclusion criteria for therapeutic drug trials targeting Alzheimer’s disease and dementia. Clinical trials often have strict inclusion criteria, but including individuals with “hidden” pathology for Alzheimer’s could enhance the effectiveness of treatments.
The data also provides a rare opportunity to explore genetic or lifestyle factors that may support cognitive preservation—insights that could benefit individuals with Down syndrome and the general population.
“If we can identify the genetic underpinnings or lifestyle factors that allowed her brain to function well despite the pathology, we may uncover strategies that could benefit others,” Head said. “This study shows how just one person’s participation in research can lead to profound discoveries.”
Rishika Verma is a graduate from Delhi University. She joined Medical Dialogues in 2023. Her interest lies in reporting health news, hospital updates, health updates, medical case studies, and advancements in healthcare, etc.