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
Study: Single Dose Study for Adult Women and Men with FXS
Dr. Craig Erickson at Cincinnati Children’s Hospital Medical Center is conducting a clinical trial to learn about if medication can change the brain’s response to sound, which may be abnormal in FXS.
Project WellCAST: Caregivers of Children with Fragile X Needed for a Research Study
The Kelleher Lab at Purdue University is conducting an NIH-funded clinical trial called Project WellCAST. Project WellCAST aims to understand how to best support caregivers of children with rare neurogenetic conditions, including Fragile X syndrome.
Study: Language, executive function, and quality of life of those with the Fragile X premutation
Researchers at the Waisman Center at UW-Madison are recruiting adults with the Fragile X premutation for a study on language, executive function, and quality of life.
Views and Experiences of Caregiver Coaching in Early Childhood Speech-Language Services: A Survey of Caregivers and Speech-Language Pathologists
The Research in Developmental Disabilities and Language Lab at The University of Wisconsin-Madison is conducting a survey to learn about you and your child’s experiences in speech therapy during early childhood.
Study: Behavioural and Emotional Outcomes in individuals with Neurodevelopmental Disorders (BEOND)
The Cerebra Network for Neurodevelopmental Disorders is conducting a survey to learn more about behaviour, social functioning, sleep, hyperactivity, mood, physical and mental health, as well as family functioning and wellbeing, and how these change over time.
Developing the Fragile X Syndrome-Health Index (FXS-HI): A Caregiver-Reported Outcome Measure
The Center of Health and Technology’s (CheT) Outcomes Division is conducting caregiver interviews to learn about and determine the most important symptoms to individuals with FXS to create an outcome measure for FXS.