Early Development of Young Children with Fragile X in North Carolina

  • Condition: Fragile X Syndrome, Fragile X Premutation
  • Age: Child
  • Sex: Male, Female

RTI International and the University of North Carolina at Chapel Hill are conducting a research study to learn more about early development of young children with Fragile X in North Carolina, and the experiences of their parents when obtaining the diagnosis and early intervention services.

About the Study

Who can participate?

This research study is currently seeking male and female children that have a premutation or full mutation Fragile X (including mosaic) and meet the following criteria:

  • Age 0–5.
  • Born in North Carolina.
  • Lived in North Carolina between the ages of 0 and 3 years.
  • Live in a home where English is the primary language spoken.

What will happen in the study?

Research study activities for qualified children and their parents include:

  • Home Visits: Depending on the child’s age, there will be 1–3 home visits (developmental assessments) with you and your child, each taking 2–3 hours:
    1. At enrollment
    2. Age 3
    3. Age 5
  • Summary Reports: After each visit, you will receive a brief summary report about your child’s development plus a $50 gift card for your time.
  • Questionnaires: Parents will be asked to complete some questionnaires (approx. 1–2 hours).

The following is a list of some of the assessments and questionnaires that will be included in the study:

Child Assessments:

  • Bayley-3/SB-5 (50 mins)
  • PDMS-2 (30–45 mins)
  • AOSI (up to 18 months) 20 mins/ADOS (45–60 mins)

Parent Report Questionnaires: Questionnaires will be sent ahead of time so that parents have plenty of time to complete.

  • Vineland Adaptive Behavior Scales, Third Edition (20 mins)
  • Sensory Profile, Second Edition (10–20 mins)
  • Rothbart Temperament Very Short Forms (10 mins)
  • Medical Outcomes Study-Social Support Survey (5 mins)
  • Feeding Flock Assessment. (1–2 surveys, 10–20 mins)
  • Sleep Questionnaire (5 mins)
  • Family Demographics including FX status (5 mins, 1st visit only)
  • Behavior Rating Inventory of Executive Function (BRIEF) (15 mins)
  • State-Trait Anxiety Inventory (10 mins)
  • Parenting Stress Index (PSI), Fourth Edition: Short Form (10 mins)

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

The benefits to you and your child from being in this study may be learning more about the developmental skills of your child.

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).

There is a risk that your child may get frustrated if they have difficulty with an activity. Your child will be offered breaks, rewards, and encouragement throughout the visit. 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. You may stay with your child at all times and may stop testing at any time you wish (for example, if you feel your child is getting tired).

Some of the questions asked about you 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. If you don’t wish to answer a question, in most cases you can skip the question and go on the next one.

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.

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

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

Participants receive $50 after each visit.

Interested in Participating?