Dr. Jessica Klusek, an assistant professor in the Department of Communication Sciences and Disorders, University of South Carolina Arnold School of Public Health, in collaboration with a team of scientists from the University of Wisconsin Waisman Center and Rush University Medical Center, has published a study on inhibition deficits among carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome. The resulting paper was published in Brain and Cognition.
“Individuals who carry a premutation allele on the FMR1 gene may experience executive limitations associated with their genetic status, including inhibition deficits,” says Dr. Klusek. “However, we currently have a poor understanding of individualized risk factors, which has limited clinical management of this group.”
With this study, Dr. Klusek and her team examined the CGG repeat length – a DNA segment on the FMR1 gene that is expanded among those with the premutation compared to those without – and age as factors that may account for variable expressivity of inhibition deficits. The participants included 134 =others of children with fragile X syndrome who were carriers of the premutation allele.
The researchers measured inhibition skills, a component of executive functioning, using both self-report and direct behavioral assessments. They found increased vulnerability for inhibition deficits among the participants with mid-range CGG lengths (i.e., 80-100 repeats). They also observed some evidence of a second zone of vulnerability among the participants with higher CGG lengths (i.e., 130-140 repeats). Their analysis further revealed that the risk for inhibition deficits became pronounced with older age.Friday Letter Submission, Publish on February 28