Structural and functional imaging features of cognitive phenotypes in pediatric multiple sclerosis
Damiano Mistri1, Monica Margoni1,2,3, Elisabetta Pagani1
1Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Annals of Clinical and Translational Neurology
|May 28, 2024
Summary
Three cognitive phenotypes were identified in pediatric multiple sclerosis (pedMS) patients, showing a spectrum of cognitive impairment. These distinct groups exhibited unique clinical and MRI features, offering insights into cognitive profiles in pedMS.
Area of Science:
- Neuroscience
- Radiology
- Pediatrics
Background:
- Pediatric multiple sclerosis (pedMS) can lead to cognitive deficits, but the spectrum of these impairments is not fully understood.
- Identifying distinct cognitive phenotypes is crucial for understanding disease heterogeneity and guiding treatment strategies in pedMS.
Purpose of the Study:
- To identify and characterize distinct cognitive phenotypes in pediatric multiple sclerosis (pedMS) patients.
- To investigate the associated clinical and magnetic resonance imaging (MRI) features of these cognitive phenotypes.
Main Methods:
- Seventy-three pedMS patients and 30 healthy controls underwent clinical assessments and 3.0T MRI scans.
- Neuropsychological testing was performed, and K-means clustering was used to define cognitive phenotypes based on cognitive scores.
- MRI metrics included lesion volume, normalized brain volumes, and within-network structural disconnectivity and resting-state functional connectivity (FC) in seven cortical networks.
Main Results:
- Three cognitive phenotypes emerged: Preserved Cognition (PC), Mild Verbal learning and memory/Semantic fluency involvement (MVS), and Multidomain Involvement (MI).
- PC patients showed decreased resting-state functional connectivity (FC) within the default mode network compared to controls.
- MVS patients exhibited reduced cortical volume and FC within the frontoparietal network, while MI patients displayed widespread volume reductions, reduced frontoparietal FC, greater disability, and lower IQ compared to PC and MVS groups.
Conclusions:
- Distinct cognitive phenotypes exist in pediatric multiple sclerosis, highlighting a spectrum of cognitive impairment.
- These phenotypes are associated with specific clinical and MRI characteristics, including brain volume changes, altered functional connectivity, and structural disconnectivity.
- Understanding these phenotypes can help explain cognitive profiles and potentially inform personalized management approaches in pedMS.


