The Neurodevelopmental Disorders Lab is conducting a research study at the University of South Carolina to learn about the development of infants with Fragile X syndrome and the Fragile X premutation over the first few years of life.

Interested? Learn more below.

About the Study

Who can participate?

Infants (both males and females) ages 6 to 12 months diagnosed with Fragile X syndrome or Fragile X premutation may be eligible to participate.

What will happen in the study?

If the individual qualifies and decides to be in this research study, participation will take place either at the participant’s home or at the University of South Carolina, depending on your family’s preference.

This study includes four in-person, play-based assessments over 18 months, with assessments targeted for when your child is 6, 9, 12, and 24 months of age. Each assessment lasts two to four hours and flexibility in scheduling is offered to meet your family’s needs and preferences.

Traveling to the University of South Carolina is optional, and all travel expenses for the participating infant and parent(s) will be reimbursed.

Participation involves the following components:

  • Play-based developmental assessments that measure cognition, communication, sensory experiences, and motor skills
  • Collection of heart activity using a non-invasive portable monitor
  • Questionnaires regarding your child’s development
  • Collection of a blood sample through a physician or outpatient lab of your choice for genetic analyses (optional)

For a more detailed walkthrough of study participation, please visit our study timeline.

What are the good things that can happen from this research?

Following each assessment, parents will receive a summary report of their child’s development and behavior from professionals knowledgeable about early development in Fragile X and other neurodevelopmental disorders. Additionally, the anticipated results of this study are expected to advance research on the development of children with Fragile X syndrome and the Fragile X premutation, which is expected to contribute to the advancement of early intervention options.

What are the bad things that can happen from this research?

There is no more than minimal risk anticipated in this study. There is a minimal risk that participants may experience mild fatigue or fussiness during behavioral data collection. However, assessments will be completed at each family’s convenience and breaks (e.g., for naps, feedings) will be allotted. If families opt to participate in the blood draw, there is a chance of minor pain, bruising, swelling, or infection, but all blood draws will be completed by a trained phlebotomist.

There may be other risks that we do not know about yet. 

Will I or my child be paid to complete this study?

Participating families will receive a prepaid gift card via email after each assessment. Participants may receive up to $400 total, with payment as follows: $75 at 6 and 9 months, $100 at 12 months, and $150 at 24 months.

Travel reimbursement is available for eligible families.

Will we be reimbursed for travel expense?

For families traveling to the University of South Carolina campus, associated travel costs (e.g., airfare, mileage, rental car, meal per diems, and/or lodging) will be reimbursed for the participating infant and accompanying parent(s).

Heart activity will be recorded using standard research electrocardiogram electrodes that are disposable and placed on intact skin. Heart activity collection is noninvasive and portable, so the participating child is able to freely move around.

Blood samples will be analyzed using new, cutting-edge analyses for molecular-genetic markers, including CGG repeat length and fragile X messenger ribonucleoprotein (FMRP) levels, to assess how molecular-genetic markers relate to developmental trajectories.

Although we hope to receive bloodwork from all participants, a blood draw is not required for study participation. If you are interested in having a blood draw completed, it can be completed at any timepoint throughout the study, and research staff can assist you in identifying a physician or outpatient lab of your choice.

Interested in Participating?

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