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 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, in collaboration with Dr. Jessica Klusek at the University of South Carolina and Dr. Julie Taylor at Vanderbilt University.
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. Two visits will be completed at one of our study sites and two will be completed from home. 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. Travel costs will be reimbursed.
Will you/your child be paid to complete this survey?
Travel costs will be reimbursed.
Frequently Asked Questions
We expect that you and your son/daughter will be in this research study for about 3 years. You and your son/daughter will be asked to visit one of the university testing sites two times:
- You and your son/daughter will be seen for an initial visit (First Visit) that will involve 6–8 hours of testing/interviews over a 1- or 2-day period.
- You and your son/daughter will be seen again at the same testing site 4 years later, again involving 6–8 hours of testing over a 1- or 2-day period.
In addition, you will be asked to complete some questionnaires and a phone interview from home at two different points, one year apart, in time between your visits to the testing site. The entire study will take us about 5 years from start to finish with all the participants.
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. Declining to provide this information will not influence your participation in the study. 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. Declining to answer/provide this information will not influence your participation in the study.
You and your son/daughter will also be asked to visit one of the university testing sites 2 times and you will be asked to complete some questionnaires data and a phone interview from home 2 times.
The 2 visits to the testing site (Year 1 and Year 4) will involve approximately 6–8 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 how your child does on some of the activities and on how often s/he needs breaks. Here are some more details:
- Data collection visits at the testing site: Your first and last visits for you and your son/daughter will be conducted at one of the testing 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.
- 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. During some activities, we will try and collect heart rate measurements as a physiological indicator of general arousal. Finally, one blood draw will be done (either at your first or last visit).
- We will also have you complete some questionnaires and interviews regarding your son/daughter’s development, behavior, and daily living skills. We will 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 will ask you if we can collect your resting heart rate measurements as a physiological indicator.
Your son/daughter will be audio- and video-recorded at each visit 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.
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.
Our Most Recent Opportunities
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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Researchers at Teachers College at Columbia University are conducting a survey to learn about the impact that the COVID-19 pandemic has had on multiple aspects of the lives of people with Fragile X Syndrome. We want to see how the Fragile X community specifically was impacted so that we can have a more focused plan of action for helping these families. The overall goal of this survey is to distribute our findings to medical professionals so that they can see what gaps have been created in their practices from the pandemic.
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.