Babies 0–12 months old with the full mutation, and their caregivers, are needed for a research study.
RTI International and the University of North Carolina at Chapel Hill are conducting an early intervention study to learn about the best ways to support early development in infants identified with the full mutation of Fragile X.
About the Study
Who Can Participate?
Parents and their babies up to 12 months old, who were diagnosed with the full mutation (prenatal diagnoses included), may be eligible to participate. English must be the primary language spoken in the home.
A limited number of spots in the intervention study are available currently. Interested and eligible participants will be enrolled on a first come, first serve basis. Once the spots have been filled, all other families will be placed on a wait list.
What Will Happen in the Study?
If your family is eligible and decides to participate in the intervention study, over the next 6–9 months, you will participate from home in weekly or bi-weekly virtual visits (approx. 60 min.) with a trained early interventionist. Topics to be covered include education about Fragile X and early development, parent-child activities, and opportunities for discussion about developmental concerns. Technology (if needed) and play materials will be mailed to families. With parent permission, researchers will collaborate with community-based early intervention providers to increase support.
Assessments, which include parent questionnaires, will take place at study entry and approximately every 6 months up to 3 years of age. If possible, these may include developmental assessments with the child at the family’s home.
The following is a list of some of the direct assessments and parent questionnaires that may be completed over the course of the study.
Child Assessments
Only if in-person visit is possible.
- Bayley-3
- PDMS-2
- AOSI /ADOS-2
Parent Report Questionnaires
Questionnaires will be sent a week or so before each visit so that parents have plenty of time to complete.
- Vineland Adaptive Behavior Scales 3
- Sensory Profile-2
- Infant Behavior Questionnaire, Very Short Form
- Neonatal/Pediatric Eating Assessment Questionnaire
- Family Demographics
- Behavior Rating Inventory of Executive Function
- Modified Checklist for Autism in Toddlers
- Parent Satisfaction Survey and Post Intervention Interview
What are the good things that can happen from this research?
The benefits to you, your baby, and your family from being in this study may be learning about the developmental skills of your child and resources for support for yourself, baby, and family.
What are the bad things that can happen from this research?
To the best of our knowledge, the things your child will be asked to do in this study have no more risk of harm than your child would experience in everyday life (e.g., an evaluation at school).
Our research team has extensive training and experience with young children with Fragile X and other disabilities and will be quite sensitive to their needs. If an in-person assessment takes place, you may stay with your child at all times and may stop the assessment at any time (for example, if you feel your child is getting tired).
Some of the questions asked in the questionnaires may make you feel uncomfortable because they ask about a variety of personal topics such as your sources of support and sense of well-being.
As with any research study that stores information on computers, there is always a risk that confidentiality may be breached. However, we want to assure you that we make every effort to keep the information you give us secure.
Will you/your child be paid to be in this research study?
Participants will receive a $50 gift card after completion of each assessment visit.
No travel will be required for most participants, if an in-person visit is scheduled, study staff will travel to your home. If you live in or near North Carolina, you may be asked to come to UNC for several assessments and will be reimbursed up to $200 per visit for travel expenses.
Our Most Recent Opportunities
Research Study: Power of the Point — Predictors of Early Language Development in Fragile X Syndrome
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.
Survey: Share Your Experience With Telehealth and Services During COVID
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.
Study: Focus Group on Difficulty with Changes and Rigid/Inflexible Behaviors in Fragile X Syndrome
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.
Study: Adult Fragile X Premutation Carriers Needed for Registry
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.
Exploring the Most Important Information for New Premutation Carriers
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.
Parents and Caregivers of Adults with Fragile X Syndrome Needed for a Survey
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 ...