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 and girls with FXS, and to better understand differences in brain activity between children with and without FXS.
Now includes boys and girls.
Eligibility for Study Participation
- 32-84 months old with a diagnosis of Fragile X Syndrome based on full mutation of the FMR1 gene.
- 32-84 months old who are typically developing.
What will you do?
- Single 4 hour visit at the Labs of Cognitive Neuroscience at Boston Children’s Hospital.
- This visit includes clinical and behavioral assessments that will evaluate your child’s thinking, motor skills, language skills, and social communication. In addition, we will measure your child’s brain activity using electroencephalography (EEG).
- EEG is a safe and radiation-free way to measure brain activity in response to different sounds and pictures.
What will you receive?
- Families will receive a small toy and $25 for participating and a summary report of the behavioral assessments completed during the visit.
- We will provide free parking and childcare for siblings.
This study is generously funded by the FRAXA Research Foundation, the Pierce Family Fragile X Foundation, the Autism Science Foundation, the Thrasher Pediatric Research Foundation, and the Society for Developmental Behavioral Pediatrics, with research participation recruitment assistance provided by the National Fragile X Foundation.
Our Most Recent Opportunities
The Development in Neurogenetic Disorders Lab at the University of Illinois at Urbana-Champaign is conducting a research study to learn about what skills support early language development.
Parents or caregivers of individuals with Fragile X syndrome who has received services via telehealth during the COVID-19 pandemic may be eligible to participate.
Individuals with FXS who are 18 years or older and able to talk fluently about own experiences, and their caregivers and providers may be eligible to participate. Eligible providers include teachers, psychologists, social workers, and physicians.
NFXF has partnered with an advisory committee of international fragile X professionals to create an international fragile X premutation research registry. Find out how to participate.
Participants of this study will explore what information is considered most important to recently diagnosed fragile X premutation carriers. Open to premutation carriers 18 and over who were diagnosed sometime since January 2018.
Kaylynn Shuleski, a master’s in genetic counseling candidate, is conducting a research study to explore the concerns and challenges caregivers may face when planning long-term supports and living arrangements for their adult children with Fragile X syndrome (FXS). This information will be valuable for current and future families when considering long-term supports, as well as for healthcare professionals, counselors, and policy makers. About the Study Who can participate? Parents and caregivers of adults with full mutation ...