Reseach Projects in Fragile X
Baby Project
In collaboration with the M.I.N.D. Institute’s Fragile X Research and Treatment Center, we are currently conducting a study of fragile X infants. Along with standardized assessments, we have a series of behavioral and eye-tracking experiments designed to measure sensory information processing and social communication in infants with fragile X, and comparison groups of typically developing infants and infants with Down Syndrome. The information gained from this research can be utilized in future studies of early interventions using behavioral, medical and education-based treatments.
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Left: Infant in front of Tobii eye-tracker. Above: Data showing increased fixation to a novel stimulus (right image). |
Math Reasoning
Our lab is interested in understanding the brain basis of math-based learning disabilities. One area with which children with fragile X have particular difficulty is math. We are studying mental arithmetic in girls with fragile X to see what areas of the brain they use for math processing and how these differ from typically developing persons. |
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Limbic Function
Individuals with the FMR1 premutation (55-200 CGG repeats) can pass on the gene in its expanded full mutation form to offspring who will then have fragile X syndrome. Until recently, these “carriers” of fragile X were believed to be unaffected. Recent evidence, however, suggests that these individuals can have significant social, emotional, cognitive and even physical problems. Evidence from our and other labs suggests that two of the structures in the limbic system in the brain (hippocampus and amygdala) may be particularly affected. In collaboration with Dr. David Hessl of the M.I.N.D. Institute and Department of Psychiatry, our lab is studying these possible vulnerabilities using fMRI in younger adults with the premutation. In addition, our collaborations with the labs of Drs Randi and Paul Hagerman allow us to collect structural MRI, molecular, neuropsychiatric and psychophysiological data as well.
Functional Brain Imaging of FXTAS
Recently, our colleagues have discovered the fragile X-associated Tremor Ataxia Syndrome (FXTAS), a late-onset progressive neurologic disorder in some older men with the fragile X premutation. The symptoms include intention tremor, ataxia and other gait disturbances, parkinsonian rigidity, cognitive decline and dementia. We are conducting an fMRI study with adults suffering from FXTAS to investigate issues of arithmetic processing, working memory, and motor timing in these individuals. Our research is showing that FXTAS has a profound influence on cerebellar functioning in these individuals. In particular, we see reduced neural recruitment of the cerebellum associated with a cognitive (arithmetic processing) task, and increased recruitment associated with a motor timing task. |
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