Altered spontaneous brain activity in Down syndrome and its relation with cognitive outcome

Abstract

Although Down syndrome (DS) is the most common genetic cause of neurodevelopmental delay, few neuroimaging studies have explored this population. This investigation aimed to study whole-brain resting-state spontaneous brain activity using fractional amplitude of low-frequency fluctuation (fALFF) and regional homogeneity (ReHo) strategies to find differences in spontaneous brain activity among young people with DS and controls and to correlate these results with cognitive outcomes. The sample comprised 18 persons with DS (age mean = 28.67, standard deviation = 4.18) and 18 controls (age mean = 28.56, standard deviation = 4.26). fALFF and ReHo analyses were performed, and the results were correlated with other cognitive variables also collected (KBIT-2 and verbal fluency test). Increased activity was found in DS using fALFF in areas involving the frontal and temporal lobes and left cerebellum anterior lobe. Decreased activity in DS was found in the left parietal and occipital lobe, the left limbic lobe and the left cerebellum posterior lobe. ReHo analysis showed increased activity in certain DS areas of the left frontal lobe and left rectus, as well as the inferior temporal lobe. The areas with decreased activity in the DS participants were regions of the frontal lobe and the right limbic lobe. Altered fALFF and ReHo were found in the DS population, and this alteration could predict the cognitive abilities of the participants. To our knowledge, this is the first study to explore regional spontaneous brain activity in a population with DS. Moreover, this study suggests the possibility of using fALFF and ReHo as biomarkers of cognitive function, which is highly important given the difficulties in cognitively evaluating this population to assess dementia. More research is needed, however, to demonstrate its utility.

“Primed to Perform:” Dynamic white matter graph communicability may drive metastable network representations of enhanced preparatory cognitive control

“…Studies investigating pre-stimulus or pre-trial spontaneous neural activity in reference to subsequent activity demonstrate both complex correlates of subsequent stimulus-evoked neural activity 1 and cognitive behavioral output such as biasing subsequent perceptual inference 6 . In parallel, other studies have shown differences in long time scale spontaneous resting activity between neurotypical and cognitively disabled individuals, such as a decrease in gamma power in individuals with schizophrenia with poor cognitive performance 7 , and alterations in resting state regional activity patterns among Down syndrome patients with cognitive impairment 8 . Further insights into how the brain may be functionally organized to drive subsequent behavior can be gleaned from proactive cognitive control, a major subdivision of cognitive control 9 , whereby neural mechanisms actively maintain relevant information in working memory, trigger goal representations, and coordinate the attention, perception, and action systems in anticipation of subsequent goal-directed activity 10,118 .…”

From neurodevelopment to neurodegeneration: utilizing human stem cell models to gain insight into Down syndrome

“…Indeed, synaptic plasticity, in particular, long term potentiation (LTP), has been shown to be impaired in individuals with DS (Battaglia et al, 2008). At the network level, altered spontaneous brain activity has been reported in DS (Bartesaghi, 2022;Cañete-Massé et al, 2022) alongside increased functional connectivity (Csumitta et al, 2022) and network synchrony Frontiers in Genetics frontiersin.org (Anderson et al, 2013), which correlates with lower IQ in individuals with DS (Anderson et al, 2013). In terms of resting state networks, the default mode network (DMN), composed of the medial prefrontal cortex, medial temporal lobe, and the posterior cingulate cortex, is engaged in internally focused tasks including autobiographical memory retrieval and future planning, which is believed to provide a means for adaptive behavior (Buckner et al, 2008).…”

Investigating brain alterations in the Dp1Tyb mouse model of Down syndrome

“…Further advancements in our understanding of the “trisomic brain” have allowed us to discern the patterns of abnormalities with greater precision. By investigating various aspects of DS such as age, sex, and environmental factors, we are gaining a more detailed understanding of this condition ( Brown et al, 2021 ; Cañete-Massé et al, 2022 ; Dierssen, 2012 ; Koenig et al, 2021 ). For example, age is a crucial factor influencing the neuroanatomical and neuropsychological observations associated with DS ( Dierssen, 2012 ; Lockrow et al, 2012 ; Teipel et al, 2004 ).…”