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Faculty & Staff Honors

Faculty & Staff Honors

University of California, Davis, Vanderbilt University, and South Carolina Researchers Awarded $3.1 million NIH grant to Study Fragile X Syndrome

Dr. Leonard Abbeduto, lead principal investigator and the director of the MIND Institute at the University of California, Davis, Dr. Julie Lounds Taylor, assistant professor of pediatrics and special education at the Vanderbilt University, and Dr. Jessica Klusek, assistant professor of communication sciences and disorders at the University of South Carolina have been awarded $3.1 million from the Eunice Kennedy Shriver National Institute of Child Health & Human Development. The scientists will use the five-year grant to study adult transition in teens/young adults (ages 17-22) who have fragile X syndrome.

[Photo: Dr. Jessica Klusek]

Resulting from a mutation in the FMR1 gene on the X chromosome, fragile X syndrome is a single-gene disorder represents the most common inherited cause of intellectual disability and also the most common genetic cause of autism spectrum disorder. Recruiting eligible individuals during their final year of high school, the longitudinal investigation will examine the transition out of school-based services and into adulthood (learn more about participating in the study).

“Many adults with fragile X syndrome do not meet normative expectations for education, employment, or peer relations. Understanding the factors that promote successful adult outcomes is critical to the development of effective interventions to support the transition from high school into adult life,” Dr. Klusek explains. “Our focus in this study is on understanding how language skills, and other factors such as physiological dysregulation, genetic characteristics, and autism symptoms, influence success in the transition into adulthood.”

Due to fragile X syndrome’s limited prevalence (around 1 in 4,000-6,000 individuals), the researchers will engage in nationwide recruitment, with families traveling to USC, University of California, Davis, or Vanderbilt University to participate. Males with fragile X syndrome tend to be more severely affected than females, which has led previous research to focus primarily on how males are impacted by the condition. However,  both males and females with fragile X syndrome can experience cognitive and language impairments, which interfere with the acquisition of literacy skills, learning, social interaction, and adaptive functioning.

“A unique aspect of this study is that we will focus on females as well as males,” says Dr. Klusek. “There have been relatively few investigations of females with fragile X syndrome. I am excited that this study will help bridge the gaps in our understanding of the presentation of fragile X syndrome in females, which will translate into better treatments and improve outcomes for females with the condition.”

This project serves as an extension of the previously funded male-focused study, Language Development in Fragile X Syndrome, and will incorporate tracking the trajectories of females with fragile X syndrome. The present study will also expand the researchers’ assessment of language development to include measures of pragmatics and literacy, which have shown to be areas of challenge, even for individuals with fragile X syndrome who do not have an intellectual disability.

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