Neural Markers in Fragile X Syndrome

Brief Description:

The purpose of this study is to improve our understanding of how differences in brain activity affect learning, language, and behavior in children with Fragile X Syndrome (FXS). Currently there is no effective treatment for FXS. Our goal is to find brain markers that predict cognitive, language, and behavioral difficulties in young boys with FXS, and to better understand differences in brain activity between children with and without FXS.

Eligibility for Study Participation

  • Boys 32-66 months old with a diagnosis of Fragile X Syndrome based on full mutation of the FMR1 gene. 
  • Boys 32-66 months old who are typically developing.

Participation Details

This study involves a single visit to the lab. Each visit will last about 3-4 hours. These visits can be scheduled at your convenience during the day or the weekend.

Research Contact:

Carol Wilkinson

Full Description

Fragile X syndrome (FXS) is the most common inherited form of intellectual disability impacting 1 in 4,000 boys and 1 in 6,000 girls. In addition to cognitive deficits, children with FXS often struggle with significant language delays and behavioral challenges, and nearly half of all individuals meet criteria for Autism Spectrum Disorder (ASD). Currently there is no effective treatment for FXS. Animal models of FXS have led to greater understanding of the neurobiology of the disorder, and identified key drug targets that improve cognitive and behavioral phenotypes. Despite extensive research in animal models, only a handful of studies have investigated brain activity and function in children with FXS, presenting a huge roadblock in translating lab-developed therapeutics to patients. This study aims to identify and characterize brain-based markers that predict cognitive, language, and behavioral deficits in young children with FXS. We will use EEG (a low cost, non-invasive technique) to measure brain activity in response to sensory stimuli, and correlate this with a range of cognitive, language, and behavioral measures. The brain-based markers will then be used in future clinical trials as objective measures for targeted outcomes. Results from this study should improve our understanding of the neural mechanisms that underlie some of the core ASD symptoms and comorbidities seen in FXS.