​In collaboration with the M.I.N.D. Institute’s fragile X Research and Treatment Center, we are currently conducting a longitudinal study of the development of visual and cognitive processing in infants with fragile X syndrome.  The study includes infants with fragile X syndrome 6-72-months-old, typically developing infants between 6-48-months-old and infants with Down syndrome between 10-48-months-old. During the study we use eye tracking technology to observe the infant's looking patterns to various visual displays presented on a screen as well as complete standardized assessments of the infant's development. The information gained from this research can be utilized in future studies of early interventions using behavioral, medical and education-based treatments.

* This study is no longer recruiting.

Carriers of the fragile X permutation have been shown to exhibit mild cognitive impairment and have an increased risk of psychiatric disorders. Fruthermore, they are at risk for a neurodegenerative disease, fragile-X-associated tremor ataxia syndrome (FXTAS), characterized by neurological manifestations of progressive gait ataxia, intention tremor, Parkinsonism, dementia, autonomic dysfunction, and peripheral neuropathy. The hypothesized molecular genetic pathogenic mechanism is toxic gain-of-function of fragile X mental retardation 1 (FMR1) mRNA. The disease has a variable and age-related penetrance, affecting 75% of male premutation carriers by the eighth decade of life.

We have demonstrated that abnormal elevation of FMR1 mRNA is associated with reduced hippocampus, amygdala, and frontal lobe function, which in turn are correlated with psychological symptoms and social deficits, impaired memory recall and working memory in male premutation carriers at risk for FXTAS. Our other studies have shown brain white matter deterioration with age, reduced brain stem and increased ventricular volume, and high rates of mood and anxiety disorders in adult carriers without FXTAS compared to controls with normal FMR1 alleles.

For the current project, we plan to examine the trajectory of key neuropsychological and neurological factors in adult male carriers of the FMR1 premutation using a longitudinal design. This will allow for comparisons of progression among our current cohort, as well as among a newly enrolled older cohort approaching the median age of FXTAS symptom onset.