The goal of the study is to learn more about how certain abilities (e.g., memory), certain types of experiences (e.g., interactions with family), and biology affect language abilities in adulthood for both males and females with fragile X syndrome. We are also interested in understanding how these factors and language/literacy skills affect the abilities of these young adults to function independently. Such information will help us suggest ways to improve teaching and therapy techniques for these individuals.
Who can participate?
If you have a son or daughter with fragile X syndrome in or entering the last year of high school or their transition program, you and your child are invited to participate in a research study being conducted by Dr. Leonard Abbeduto at the Laboratory on Language Development in Neurodevelopmental Disorders at the MIND Institute, University of California, Davis; Dr. Jessica Klusek at the University of South Carolina; and Dr. Julie Taylor at Vanderbilt University Medical Center.
What will happen in the study?
If you are interested in participating in this study, you and your son or daughter will be asked to participate in four assessment visits over a three-year period. Families will have the option of completing all four visits at home through video teleconferencing or completing the first and last annual visits at one of our study sites. During these visits, some assessments will be done directly with your son/daughter, some assessments will be done directly with you, and we will ask you to provide some additional information about your son/daughter through questionnaires. Travel costs will be covered by the study.
Will you/your child be paid to complete this survey?
Travel costs will be covered by the study.
Frequently Asked Questions
This study is being done to find out how certain abilities (e.g., memory), certain types of experiences (e.g., interactions with the family), and biology affect language abilities in adulthood for both males and females with fragile X syndrome. We are also interested in understanding how these factors and language/literacy skills affect the abilities of these young adults to function independently. Such information will help us suggest ways to improve teaching and therapy techniques for these individuals.
We expect that you and your son/daughter will be in this research study for about 3 years. Families will have the option of completing the entire study at home through video teleconferencing or completing the first and last visits at one of the university testing centers and the remaining visits at home.
- You and your son/daughter will be seen for an initial visit (Year 1) that will involve 4–8 hours of testing/interviews over a 1- or 2-day period. The length of the visit will depend on whether you choose to participate through video teleconferencing or at one of the university sites.
- You will be asked to complete some questionnaires and a phone interview from home at two different points, one year apart (Year 2 and Year 3 visits).
- You and your son/daughter will be seen in a final visit (Year 4), again involving 4–8 hours of testing over a 1- or 2-day period. The length of the visit will depend on whether you participate through video teleconferencing or at one of the university sites.
The entire study will take us about 5 years from start to finish with all the participants.
122 dyads will participate. We expect about 62 dyads consisting of a youth with Fragile X syndrome and their parent or other primary caregiver will be in this research study at the UC Davis, MIND Institute, and the remainder at the University of South Carolina (Columbia) or Vanderbilt University Medical Center (Nashville).
If you decide that you and your son/daughter want to take part in this study, we will ask you to provide us with a copy of documents verifying your son/daughter’s diagnosis of Fragile X syndrome. If you do not have a copy of this report, we may ask you to complete a separate release form so that we can obtain a copy of your son/daughter’s diagnostic report from their medical provider. We will need this to enroll your son/daughter in the study. In addition, if your son/daughter has an IEP or 504 plan, we will ask if you are willing to share this information with us. Finally, if you have been tested for the premutation or full mutation, we ask if you would please indicate the result and/or provide us a copy of your report.
The first and last annual visits (Year 1 and Year 4) will involve approximately 4–8 hours of testing for your son/daughter and approximately 2 hours of time from you to complete interviews/questionnaires. The length of testing will depend on whether you participate at a university site or through video teleconferencing, as well as on how your child does on the activities and on how often s/he needs breaks. Here are some more details:
- During your first and last annual visits, some assessments will be done directly with your son/daughter, some assessments will be done directly with you, and we will ask you to provide some additional information about your son/daughter through questionnaires.
- At both of these visits, we will ask your son/daughter to participate in some tasks that will allow us to measure his/her language skills, nonverbal reasoning skills, and reading skills. We will also ask him/her to participate in some tasks that will provide us information about his/her social interaction skill and behavior. We may also collect heart rate measurements from your son/daughter as a physiological indicator of general arousal. Finally, one blood draw will be done (either at your first or last visit) on your son/daughter if participating at a university site.
- We will have you complete some questionnaires and interviews regarding your son/daughter’s development, behavior, and daily living skills. We will also ask you to complete some activities designed to measure your language and problem solving and complete some questionnaires that will provide information regarding caregiver wellbeing. Finally, we may also ask you if we can collect your resting heart rate measurements as a physiological indicator.
- Your son/daughter and you will be audio- and video-recorded while completing the activities. The assessments and interviews we complete with you will also be audio- and video-recorded at each visit. Having these recordings is necessary for us to fully evaluate what was said during these activities and confirm activities were administered according to standardized procedures.
Participation in Year 2 and 3 will involve you completing questionnaires and interviews through video teleconferencing. Your son or daughter will not be seen on these visits.
Assessment Tasks: Your son/daughter might get tired or frustrated with the activities. If so, s/he can take a break or finish testing another time. Of course, you can take breaks as well. If the activities are too challenging for your son/daughter, we will administer only the easiest tasks so that his/her experience will be successful. There is minimal risk to participating in this study.
Blood Sample: There is a small risk of soreness, bruising, swelling, or infection from the blood sample your son/daughter will provide.
Heart Rate: Minor skin irritation from the adhesive.
If you agree to take part in this research study, you will receive a $50 honorarium and your son/daughter will receive a $5 gift card from a national retail store each time you visit, for your time and effort. If your participation requires flying to the testing site or staying overnight at a hotel, we will arrange and pay for those and other travel-related expenses according to university policies. You may be asked for your social security number for payment purposes. It will not be used for any other purpose without your permission.
Our Most Recent Opportunities
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.
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.
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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.
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 ...
Males between the ages of 18 and 30 years with a diagnosis of Fragile X syndrome (full mutation) may be eligible to participate.