July 17, 2019 | Erin Bluvas, bluvase@sc.edu
Jessica Klusek, an assistant professor in the Department of Communication Sciences and Disorders, has been awarded $149,000 from the National Institutes of Health’s Eunice Kennedy Shriver National Institute of Child Health & Human Development. She will use the two-year grant to examine aging language trajectories for women who are carriers of the FMR1 premutation.
FMR1 premutation is a fairly common (One in 151 females; One million Americans) yet understudied genetic mutation. The FMR1 premutation was once only recognized by the medical community through its association with fragile X syndrome — a neurodevelopmental disorder that represents the most common cause of inherited disability and the most common genetic cause of autism spectrum disorder. Women who are carriers of the FMR1 premutation can pass the abnormal gene to their sons and daughters, which may cause fragile X syndrome. Klusek is already studying the impact of fragile X syndrome on the communication skills of those who have it and/or autism. With this new grant, Klusek will shift her focus to better understand communication features associated with the FMR1 premutation genotype itself.
She was recently awarded an Early Career Award from the National Institute on Deafness and Other Communication Disorders to better understand the communication and language features associated with the FMR1 premutation. While women (and men) were previously believed to be silent carriers of the FMR1 premutation with no clinical side effects for themselves, researchers and clinicians now know that being a carrier of this particular gene mutation is associated with a range of mental, cognitive and physical health risks — thus, prompting Klusek’s investigation into how carriers’ communication abilities are impacted by the premutation.
With this new grant, Klusek will conduct a longitudinal study to define age-related change in language production skills across early-to-middle age as well as the impact of parenting stress on language trajectories.
“Language difficulties can impact quality of life for both the premutation carrier mother as well as her disabled children with fragile X syndrome,” Klusek says. “By determining the trajectory and predictors of age-related language decline, we can better identify critical age periods for providing clinical treatment and help inform the development of those treatments.”
Emerging evidence has suggested that premutation carriers are at risk for decline as early as their 20s, with increased severity in language, executive and psychiatric symptoms among carrier mothers who are early-to-middle aged (30 to 60 years). Ten percent of female carriers will develop Fragile X Tremor Ataxia Syndrome, a late-onset neurodegenerative disorder characterized by tremor, ataxia and cognitive decline.
“This is significant because it appears that premutation carrier mothers may suffer from progressively worsening symptoms precisely at the time when their caregiving burden is at its peak,” Klusek says. “However, it is difficult to draw conclusions regarding longitudinal change from these prior studies because cross-sectional data are known to be vulnerable to selection bias and cohort effects. The importance of longitudinal studies of premutation carrier mothers cannot be understated — age-related decline not only impacts the health and quality of life of the carrier mother, but it also impacts her ability to care and advocate for her disabled children with fragile X syndrome.”
Related:
COMD’s Jessica Klusek to lead USC’s role in $3.1 million NIH grant to study fragile X syndrome