Human Imaging

Citation:

Li, D., Mei, L., Li, H., Hu, C., Zhou, B., Zhang, K., Qiao, Z., Xu, X., Xu, Q. (2022). Brain structural alterations in young girls with Rett syndrome: A voxel-based morphometry and tract-based spatial statistics study. Frontiers in Neuroinformatics, 16.  

Summary of Paper: 

Three groups of girls were examined in this study. The first was the experimental group comprised of 28 girls with a confirmed diagnosis of Rett Syndrome in accordance with the current diagnostic criteria and confirmed MeCP2 abnormalities. The second group was a number of typically-developing young girls. The third group was children with a confirmed autism diagnosis in accordance with the DSM-5 manual. After parental consent, an MRI and Voxel-Based Morphometry were conducted on all groups. The images were evaluated for quality. Then, they were put through a statistical significance evaluation. It was found that individuals with Rett Syndrome exhibited abnormally low total intracranial, white matter, and grey matter volumes. This was shown on the global level view morphometry portion and confirmed in the MRI. A large decrease in fractional anisotropy in many regions of the Rett Syndrome affected brains. Those with Rett Syndrome had largely increased mean diffusivity values in the corpus callosum. Lastly, correlations were drawn between the clinical characteristics and the brain morphology. It was concluded, most importantly, that Rett Syndrome is a separately diagnosed monogenic disorder. It is not the msot severe subdivision of the Autism spectrum since there were no morphological similiarities between ASD and Rett Syndrome individuals.