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Study Reveals Altered Spontaneous Brain Activity in People with Down Syndrome

A new study has revealed that using functional magnetic resonance techniques shows the differences in the spontaneous activity of the brain in people with Down syndrome compared to the general population.

Research scientists from the Faculty of Psychology, the Institute of Neurosciences and the Institute of Complex Systems of the University of Barcelona have identified altered spontaneous brain activity in people with Down syndrome. The findings indicate the potential to detect the brain signals responsible for cognitive functioning anomalies caused by the condition, therefore offering a biomarker of neurodegeneration.

Published in the journal Scientific Reports, the research study included first author Cristina Cañete, as well as Maria Carbó and Maribel Peró, led by Joan Guàrdia, Professor of Methodology of Behavioural Sciences. Participation from experts such as Shi-Xian Ciu and Chao-Gan Yan from the Chinese Academy of Sciences in Beijing was also crucial to the study's success.

Down syndrome is the most common cause of genetic neurodevelopmental delay. It affects approximately 1 out of 700 individuals and has a comorbidity due to an increased likelihood of Alzheimer’s disease.

“Due to the high incidence of Alzheimer's in Down syndrome, this population offers an extraordinary opportunity to understand the temporary progression of this dementia, the different sides that contribute to the age of the onset, and also to apply knowledge to the general population,” Guàrdia noted in an official press release.

The study contrasted the resting-state brain signals of 18 individuals with Down syndrome with a control group of the same size. Functional magnetic resonance techniques were used to evaluate basal brain function and identify differences between the two groups. Next, local spontaneous activity was measured using fALFF, and ReHo analysis was conducted to estimate the regional anomalies in the brain.

The findings indicate the potential to detect the brain signals responsible for cognitive functioning anomalies caused by the condition, therefore offering a biomarker of neurodegeneration.

This was the first study to apply the technique to a young adult sample, with an average age of 28.7 years old. Researchers explained the significance of participant age in the following words: “We have to consider that the neuropathology of Alzheimer's is universal in all people with Down syndrome over 40 years old. This involves that in within a few years, major changes can occur in the brains of these people. Therefore, it is essential to focus the studies on young participants who have not yet developed the first signs of the pathology.”

Results identified the frontal and temporal lobes to be the areas with the most altered spontaneous brain activity in people with Down syndrome compared to the control group. Consequently, altered functioning was recorded for verbal fluency in the former. The researchers hope to build on results to “study...the use of the brain signal as a biomarker of cognitive skills or to detect dementia early.”

Cañete-Massé, C., et al. (2022) Altered spontaneous brain activity in Down syndrome and its relation with cognitive outcome. Scientific Reports. doi.org/10.1038/s41598-022-19627-1.

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