Ever wondered how a jigsaw puzzle fits together? Well, imagine if some important pieces were missing or didn’t quite match up. That’s like what happens in the brains of young girls with Rett syndrome (RTT), a unique disorder caused by gene mutations. Using advanced brain imaging techniques, scientists have discovered that these girls’ brains have structural changes compared to those with typical development or autism spectrum disorder. By analyzing MRI scans, the researchers found areas of decreased gray matter volume in regions responsible for emotions and sensory processing. They also observed altered white matter properties in specific brain fibers related to communication and coordination between different brain regions. Amazingly, these changes were linked to the severity of RTT and social difficulties experienced by the girls. This study deepens our understanding of RTT’s origins and may pave the way for future treatments. Want to know more about this cutting-edge research? Check out the full article!

Rett syndrome (RTT) is a neurodevelopmental disorder caused by loss-of-function variants in the MECP2 gene, currently with no cure. Neuroimaging is an important tool for obtaining non-invasive structural and functional information about the in vivo brain. Multiple approaches to magnetic resonance imaging (MRI) scans have been utilized effectively in RTT patients to understand the possible pathological basis. This study combined developmental evaluations with clinical severity, T1-weighted imaging, and diffusion tensor imaging, aiming to explore the structural alterations in cohorts of young girls with RTT, idiopathic autism spectrum disorder (ASD), or typical development. Voxel-based morphometry (VBM) was used to determine the voxel-wised volumetric characteristics of gray matter, while tract-based spatial statistics (SPSS) was used to obtain voxel-wised properties of white matter. Finally, a correlation analysis between the brain structural alterations and the clinical evaluations was performed. In the RTT group, VBM revealed decreased gray matter volume in the insula, frontal cortex, calcarine, and limbic/paralimbic regions; TBSS demonstrated decreased fractional anisotropy (FA) and increased mean diffusivity (MD) mainly in the corpus callosum and other projection and association fibers such as superior longitudinal fasciculus and corona radiata. The social impairment quotient and clinical severity were associated with these morphometric alterations. This monogenic study with an early stage of RTT may provide some valuable guidance for understanding the disease pathogenesis. At the same time, the pediatric-adjusted analytic pipelines for VBM and TBSS were introduced for significant improvement over classical approaches for MRI scans in children.

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