Babies 0–9 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 9 months old, who were diagnosed with the full mutation at or before 4 months of age (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
Parent Survey: Literacy Skills in Children with Fragile X Syndrome
The Research in Neurodevelopmental Disabilities Lab at the Waisman Center at the University of Wisconsin-Madison is looking for parents of male or female children 6 to 17 years old with Fragile X syndrome for an online survey.
Study: Join the FORWARD Registry & Database
The FORWARD Registry is open to individuals with any type of Fragile X disorder, and the FORWARD Database is open to individuals with a full mutation (including mocaicism).
PIXI Study: Parent-Infant Fragile X Intervention
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. Babies 0–9 months old with the full mutation, and their caregivers, may be eligible to participate.
Study: Our Fragile X World Registry
Our Fragile X World collects data from families using online surveys and in-person studies. Topics covered include sensory or behavioral challenges, health care experiences, and the impact of Fragile X on families.
Study: Cognition, Balance, and Walking Patterns in Males With a Premutation
Doctors at Rush University are researching cognition, balance, and walking patterns in people who carry a premutation in the Fragile X (FMR1) gene.
Fragile X Premutation Carrier Study at USC
The University of South Carolina is conducting a research study focusing on the range of language, social, and cognitive features that may be associated with variations on the FMR1 gene. Women age 35-75 who are carriers of the Fragile X premutation may be eligible to participate.
