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Disrupted Functional and Structural Connectivity in Angelman Syndrome
1From the Department of Radiology and Research Institute of Radiology (H.M.Y., W.H.S., J.S.L., J.H.K.).
AJNR. American Journal of Neuroradiology
|May 9, 2020
Summary
Children with Angelman syndrome (AS) show reduced functional connectivity and brain volume. This neuroimaging study reveals significant structural and functional brain alterations in AS patients.
Area of Science:
- Neuroimaging
- Neurodevelopmental disorders
- Quantitative MRI
Background:
- Angelman syndrome (AS) is a rare genetic disorder affecting neurodevelopment.
- Understanding the neurobiological underpinnings of AS is crucial for developing targeted interventions.
Purpose of the Study:
- To investigate alterations in functional connectivity (FC) and brain structures in children with AS.
- To correlate imaging findings with the known neurobehavioral phenotype of AS.
Main Methods:
- Utilized 3T brain MRI, including resting-state fMRI, DTI, and 3D T1-weighted imaging.
- Analyzed FC, white matter microstructure, cortical thickness, and brain volumes in 14 AS patients and 28 controls.
- Employed integrated quantitative imaging analysis and connectivity measures.
Main Results:
- Significantly reduced intra- and interhemispheric FC, particularly in the basal ganglia and thalamus, in AS patients.
- Reduced fractional anisotropy in white matter tracts (corpus callosum, cingulum, etc.) in AS.
- Gray matter volume loss in basal ganglia and diffuse white matter volume reduction observed in AS.
Conclusions:
- Integrated quantitative MRI analysis revealed impaired functional and structural connectivity in children with AS.
- Brain volume reduction in AS may underlie the observed motor and language deficits.
- Findings provide insights into the neurobiological basis of the AS phenotype.
