Language Development in Fragile X Syndrome Study (FXLA)

Study Purpose and Participants

This study focuses on language development during the transition from high school into adulthood, examining individuals' experiences with FXS and their parents in contexts that require and promote independence.

The project has four goals:

Describe the development of language, literacy, and the capacity for independent functioning in FXS during the transition into adulthood. We use various measurement strategies and paint the most holistic picture to date of the transition to adulthood for youth with FXS.
Evaluate for the first time the two-way relationships between independent functioning and language and literacy.
Examine variations of language and literacy within the FXS population and which factors contribute to these differences.
Identify sex differences in language, literacy, and independent functioning capacity, which have not been researched yet in this population's adult transition years.

If you have a son or daughter with Fragile X Syndrome who is in high school, you and your child may be a good fit for taking part in this study. If invited to participate, you and your son or daughter will have the opportunity of completing 4 visits over 3 years. Vanderbilt University Medical Center will be the site for two visits, and the other two will be at home. During these visits, you son/daughter will complete some assessments. You will complete some assessments. We will also ask you to provide some additional information about your son/daughter. Travel costs and hotels are paid for by the study (if needed), and families receive a $200 honorarium for full participation. During the COVID-19 pandemic, we offer remote participation over teleconference calls, so please call us about this if you would like to participate remotely.

Study Research Team

Leonard Abbeduto, Ph.D.

Leonard Abbeduto, Ph.D. is the director of the UC Davis MIND Institute and holds the Tsakopoulos-Vismara Endowed Chair of Psychiatry and Behavioral Sciences at UC Davis. He is a nationally recognized expert on the behavioral profiles of individuals with intellectual disabilities, with a particular focus on the development and use of language by these individuals. Dr. Abbeduto’s current research projects examine the feasibility of using samples of spoken language collected in naturalistic contexts as outcome measures in clinical trials. His lab is also developing a multimodal intervention, including both pharmacological and behavioral components, that will target the narrative language skills of 10- to 17-year old children with fragile X syndrome. Abbeduto's research has been funded continuously by the National Institutes of Health since 1996. He has published more than 130 articles, book chapters, reviews, and books on fragile X, autism, Down syndrome and other disabilities and delivered numerous presentations throughout the nation and the world.

Angela John Thurman, Ph.D.

Angela John Thurman, Ph.D.’s research at the UC Davis MIND Institute focuses on characterizing the dynamic processes underlying the development of language and other skills in individuals with neurodevelopmental disorders, particularly autism spectrum disorder, Down syndrome, fragile X syndrome, and Williams syndrome. Dr. Thurman's current projects are focused on characterizing developmental similarities and differences across different neurodevelopmental disorders and identifying the factors influencing child development. She is also interested in the development and validation of new methods for measuring cognitive, emotional, and behavioral skills across the lifespan in individuals with neurodevelopmental disorders. The long-range goal is that this work will help identify the extent to which similar and/or different processes should be targeted in intervention efforts across neurodevelopmental disorders.

profile

Jessica Klusek, Ph.D. is an Assistant Professor at the University of South Carolina. Dr. Klusek received her Ph.D. in Speech and Hearing Sciences from the University of North Carolina at Chapel Hill. She followed her doctoral training with an NIH-funded postdoctoral fellowship in Psychology at the University of South Carolina, where she completed interdisciplinary training in physiology, psychology, and genetics. Dr. Klusek is also a certified, licensed speech-language pathologist. Dr. Klusek's lab focuses on studies that explain how communication features associated with autism and fragile X syndrome are shaped by genetic and physiological factors, using a multi-informant family-approach where both parents and their children report on specific factors.

Julie Lounds Taylor, PhD is an Associate Professor of Pediatrics at Vanderbilt University Medical Center and an Investigator at the Vanderbilt Kennedy Center for Research on Human Development. Dr. Taylor is an international leader in the study of how to improve the transition to adulthood and adult outcomes for individuals on the autism spectrum. With over 70 peer-reviewed publications, she has made important discoveries about the challenges faced by many individuals on the autism spectrum after leaving high school and the importance of engaging in meaningful work for positive behavioral development. After observing the difficulties families were experiencing in accessing adult disability services, Dr. Taylor and her colleagues developed a program to support families in navigating adult service systems, which she is currently testing in a clinical trial in three states in the U.S. She provides expertise in transition and adult-related issues to federal autism committees and initiatives and is currently co-leading a national working group on health and mental health for individuals on the autism spectrum.

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability, resulting from a mutation in the FMR1 gene on the X chromosome. Language impairments are common and often more severe than cognitive-level expectations in youth with FXS. These language impairments interfere with the acquisition of verbal skills, learning, social interaction, and adaptive functioning.

This study focuses on language development during the transition from high school into adulthood and the experiences of individuals with FXS in contexts requiring and promoting independence. We hope this information will help us suggest ways to improve teaching and therapy techniques for youth with FXS.