Reading deficits correlate with cortical and subcortical volume changes in a genetic migration disorder

Periventricular nodular heterotopia (PNH) is the most common type of epileptogenic neuronal migration disorder, and often presents with epilepsy and reading disability. The functional role of ectopic nodules has been widely studied. However, the associated structural cortical and subcortical volumetric alterations have not been well characterized. Moreover, it is unknown whether a correlation between volumetric changes and behavioral problems exists. 40 subjects with bilateral PNH and 40 matched healthy controls were enrolled in this study. The total cerebral, gray matter, white matter, and cerebrospinal fluid (CSF) volumes were compared between the two groups. Furthermore, structural and functional correlations were evaluated between volumetric changes and reading disability. There were no significant differences detected in total cerebral, gray matter or CSF volumes between the two groups, but there was a significant trend of larger gray-matter volume in PNH. Specifically, smaller white matter volumes were found in the PNH patients. Moreover, the volume of white matter was negatively related to time in the digit rapid naming task and a similar but insignificant trend was seen between the volume of gray matter and backward digit span. These findings suggest that reading disability exists in our sample of bilateral PNH. Periventricular nodules would have normally migrated to the overlying cortex. However, the total cerebral, gray matter, and CSF volumes were unaffected. Alterations in neuronal migration may have an impact in the white matter associated reading dysfluency, that is, visually normal.