Longitudinal Outcomes and Neuroimaging of Fragile X Syndrome + Neurodevelopmental Profiles of Infants and Preschool Age Children with Fragile X Syndrome

By Aubrey Rho, Stanford University School of Medicine
Mentors: Amy Lightbody, PhD and Allan Reiss, MD

Last summer I worked as an undergraduate student research assistant in the Center for Interdisciplinary Brain Sciences Research (CIBSR) at Stanford University. I worked on two ongoing projects focused on improving our understanding of Fragile X syndrome (FXS).

The first was a longitudinal study tracking the cognitive, behavioral, and neurophysiological development of individuals with FXS. The study is currently in its third period of data collection and the participants have been followed from their young school age years through pre-adolescence, late adolescence and into early adulthood. One important aspect of my responsibilities included scoring and entering the project’s large dataset that needs to be evaluated and entered into the lab database for analysis. It included a wide range of cognitive and behavioral assessment tests, including the Wechsler Intelligence Scale for Children, the Vineland Adaptive Behavior Scales, Independent Living Scales, and questionnaires such as the Aberrant Behavior Checklist, the Quality of Life Questionnaire, and the Life Experiences Checklist. The analysis of these data demonstrates the progress of the disorder within study participants over time and will help enhance our understanding of how FXS influences development from childhood through adulthood. Initial findings on this topic were presented at the 12th International Fragile X Conference in July.

The second project focused on understanding the relationship between early aberrant brain development and cognitive and behavioral phenotypes. Given that FXS manifests early in life, when significant growth and development occur in the brain, understanding neuroanatomy in this age is crucial for enhancing our understanding of how the gene relates to the brain and subsequent behavior.