Magnetic Resonance Spectroscopy Imaging and Function Magnetic Resonance Imaging of Neurofibromatosis Type I: In vivo Pathophysiology, Brain-Behavior Relationships and Reading Disabilities

摘要

The purpose of this research is oriented towards understanding the reading, language, and articulation deficits associated with Neurofibromatosis Type 1 (NF-1) and relating these deficits to the underlying pathophysiology of NF-1 as revealed by Magnetic Resonance Spectroscopy Imaging (MRSI) . A second goal is to determine how differences in activation, as measured by functional Magnetic Resonance Imaging (fMRI), are linked to the cognitive/academic impairments associated with NF-l. A third goal is to further understand how T-2 weighted hyperintensities on Magnetic Resonance Imaging (MRI) scans are related to cognitive/academic impairments associated with NF-l. Each aim addresses the research in terms of pathophysiology and how cognitive/academic functioning of children with NF-1 compares to control groups when examined in both genetic (i.e., sibling) as well as general population (both reading disabled and non- reading disabled) contexts. We hypothesize that abnormalities of NAA, Choline, or their ratios, will exist in the thalamus and will correlate with language, reading, and articulation deficits in NF-1, defined by 'lowering' of the cognitive scores of each child with NF-1 relative to his/her unaffected sibling. For the second goal, we hypothesize that children with NF-1 will activate their brains similarly to reading disabled children during fMRI tasks. For the third goal, we hypothesize that reading, language, and articulation deficits will correlate with the number of brain locations with T2-weighted hyperintensities. Thus, neuroimaging permits the pursuit of furthering our understanding of how the NF-1 gene affects the brain in terms of basic neurobiologic factors (ultrastructural, physiological, and localization) as well as their impacts on cognition (reading, language, and articulation) in NF- 1.