Why are we doing this research?
is conducting a research study, sometimes known as a clinical trial or clinical
to learn about brain and behavioral problems associated with
Fragile X Syndrome (FXS) and how they are connected with genetic factors
related to FXS.
Who can participate?
Those who can participate are children, teens and adults 5 to 80 years old who:
- Have a diagnosis of FXS
- Are known or suspected to carry a variation of the FXS gene
Those who have a significant medical, psychiatric, central nervous system or neurological disease that is unrelated to FXS will NOT be able to participate.
What will happen in the study?
If you (as a participant who is 18 or older) or your child qualify, and you decide you want to be in this research study, you will come to Cincinnati Children’s for 2 to 4 visits over the next month. Each visit will be between 1 to 3 hours, if necessary. There will be a total of 4 to 8 hours of testing over the course of all the visits.
Participants with FXS, those who are known/suspected to carry a variation of the FXS gene, and family members of people with FXS will all complete the same tests and procedures during this research study.
The following is a list of some of the tests and procedures that may happen to you and/or your child during the study:
- Intelligence test: a brief test examining current verbal or non-verbal abilities
- Behavioral and medical questionnaires: questionnaires about medical history, family history, medication history, daily living activities, and present or past illnesses
- Physical exam and vital signs: height, weight, head measurements, body measurements, vision and hearing tests
- Neuropsychological testing: tests that measure mental abilities (thinking and response times), such as problem solving and attention
- Eye tracking: you or your child will watch targets on a large screen while we measure and record eye movements using a camera-based system that follows eye gaze
- EEG studies: you or your child will wear a cap with sensors that measures the electrical activity of the brain while you are at rest and while you are presented with various sounds
- Blood/saliva samples for testing: we will take a small amount of blood/saliva from you or your child for genetic testing of the FXS gene and ask that any leftover samples be banked for future research of FXS and similar conditions (this part is optional)
Participants or parents/guardians interested in having their child participate will be given a consent form that thoroughly explains all of the details of the study. A member of the study staff will review the consent form with you and will be sure that all of your questions are answered.