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
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.
A Mount Sinai Genetic Counseling graduate student is conducting a research study to learn about possible benefits and side effects of CBD supplements when used to treat FXS symptoms. This information will be obtained by using an anonymous online parental and caregiver survey. About the Survey Who can participate? Parents and caregivers caring for somebody with FXS who uses, or has used, CBD supplements may be eligible to participate. The parent or caregiver responding to the survey must be at least 18 years old. The individual with ...
Researchers at Teachers College at Columbia University are conducting a survey to learn about the impact that the COVID-19 pandemic has had on multiple aspects of the lives of people with Fragile X Syndrome. We want to see how the Fragile X community specifically was impacted so that we can have a more focused plan of action for helping these families. The overall goal of this survey is to distribute our findings to medical professionals so that they can see what gaps have been created in their practices from the pandemic.
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 ...
Males between the ages of 18 and 30 years with a diagnosis of Fragile X syndrome (full mutation) may be eligible to participate.