Studies

Our Fragile X World collects data from families using online surveys and in-person studies. The studies cover topics such as sensory or behavioral challenges, health care experiences, and the impact of fragile X on families.

Sign Up for the Our Fragile X World Registry

Taking part in a study is one way you and your family can help support our work. That is why we created the Our Fragile X World registry. This registry is how we let families know when they can take part in a study.

Not in our registry yet? If you would like to know when you can take part in a study, please consider signing up for our registry. Signing up means taking an enrollment survey to tell us more about yourself and your family.

Not sure if you have signed up already? Contact us.

CURRENT STUDIES

We are currently enrolling parents of children with the full mutation or the premutation to participate in one or both of the following new studies! We want to learn more about the early development of children with fragile X and their family’s experiences with getting the diagnosis and early intervention. Information from these studies will help support parents of infants who have been newly diagnosed with fragile X through our Early Check study in North Carolina.

Survey: Early Experiences with Fragile X

This national survey is for parents of children 13 and under with the premutation or full mutation of fragile X, who live in the US.

  • If the first child diagnosed in your family (full or premutation) is 13 years or younger, OR, if any of your children with the full or premutation are 7 or younger, you are invited to take the survey!

If you are in our registry and eligible for this survey, we have emailed you a survey access code. Please check your email. You will need to enter this code before you start the survey.


Not in our registry but interested in taking this survey? Contact us

Lost your code or didn’t get one? Contact us

Assessment Study: North Carolina Early Experiences with Fragile X

This study is for parents and children aged 5 and younger who live in North Carolina. Participants receive free developmental assessments for their child and a summary report!

  • If your child aged 5 or younger with the full or the premutation of fragile X was raised in North Carolina, you are invited to take part in this assessment study!

Please contact Anne Edwards at anneedwards@rti.org or call toll free at 866-214-2044 if you’d like to learn more about this study.

PAST STUDIES

Preferences for the Use of Medical Records in Research Survey

We conducted two surveys, one with parents of individuals with fragile X syndrome and another with young adults with fragile X syndrome, to explore what factors are important to when deciding whether to allow researchers to access their (or their child’s) electronic health record.

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development
Publications: Findings from this study have not yet been published.

Stress, Coping, and Mindfulness in Mothers of a Child with Fragile X Syndrome (2017)

This study included a survey and follow-up phone interviews with some of the survey participants. Mothers of children with fragile X syndrome were asked about their stress and coping strategies as well as their thoughts and opinions about mindfulness, a way to reduce stress.

Sponsor: RTI International
Publications: Publications: View list

Sensory Experiences Survey (2016)

This survey studied the sensory challenges of people with fragile X syndrome. It also helped us test a new set of survey questions, the Brain-Body Center Sensory Scales (BBCSS).

Sponsor: North Carolina Translational and Clinical Sciences Institute (NC TraCS)
Publications: View list

National Fragile X Survey – Phase II (2012)

This project was a follow-up to our first family survey. It addressed many topics, such as family communication and adaptation, female reproductive health and other health issues, autism, behavior and social skills, academic and daily living skills, adult living and employment, and guardianship.

Sponsor: U.S. Centers for Disease Control
Publications: View list

Fragile X Caregiver Burden Survey (2011)

In this survey, we talked to caregivers of people with fragile X. We asked them how caregiving affected their health, finances, and daily lives. We also looked at the health characteristics of children and adults with fragile X syndrome. We asked caregivers about the number of visits their child made to specialists and their child's use of medications.

Sponsor: Novartis Pharmaceuticals
Publications: View list

National Fragile X Survey – Phase I (2008)

In 2007, we led the first national survey of families touched by fragile X syndrome. Over 1,250 families took part in the study. They answered questions about topics such as family adaptation, conditions related to fragile X syndrome, health experiences, and functional skills. This survey provided new knowledge about fragile X syndrome. It showed that parents are a valuable source of research information.

Sponsor: U.S. Centers for Disease Control
Publications: View list