Neuroanatomy

Citation

Reiss, A.L., Faruque, F., Naidu, S., Abrams, M., Beaty, T., Bryan, R.N. and Moser, H. (1993). Neuroanatomy of Rett syndrome: A volumetric imaging study. Annals of Neurology, 34: 227-234.

Summary of Paper

11 girls (4-20 years) who had a confirmed diagnosis of Rett Syndrome and no other abnormalities were selected to participate in the study as the experimental group. 15 girls (6-15 years) who were typically developing and showed no signs of disability were selected for the control group. 3 different MRI views were take from each girl. They were then processed. Tissue descriptions and previously studied regions of interest were noted for each image. Composite images were also made from the combination of these three images for each subject. The interrater reliability scored 0.94 so the images were statistically reliable. The tissues of interest were divided into five distinct regions to observe if the changes were in a specific cortical area. The total volumes for the entire cerebrum, gray matter, and white matter were significantly reduced in those with Rett Syndrome. The caudate nucleus in those with Rett Syndrome was also much smaller in size than the control group. There was a slightly increased volume of cerebral spinal fluid. Becuase Rett Syndrome begins to show itself around 6-18 months, this explains the decrease in gray matter for these older children. This could mean that less neuronal firing is occuring and that neuronal destruction is taking place. There was also a noted correlation in the decreased size of the caudate nucleus and the decreased physical and cognitive abilities of those with Rett Syndrome. This neuroanatomical study was the first to pinpoint a specific region and part of the brain that could be directly related to the physical manifestations of Rett Syndrome.