The University of Kansas Medical Center is conducting a survey to learn about the medical and mental health care needs of individuals and families affected by Fragile X syndrome, premutation carriers, and undiagnosed family members. A secondary aim is to utilize the identified medical and mental health care needs to improve service coordination and delivery for patients and families supported by KUMC/KU Health System.
About the Survey
Who can participate?
Persons 18 years and over will be eligible for participation in the following conditions:
- The person has a full mutation of the FMR1 gene (Fragile X syndrome).
- The person is diagnosed with/suspected of having a Fragile X-associated disorder:
- The person is a parent/caregiver, guardian, or another close family member of someone who has an FMR1 premutation (i.e., premutation carrier) or full mutation (i.e., Fragile X syndrome)
What will happen in the study?
If the individual qualifies and decides to be in this research study, they will complete a survey online. The survey consists of 49 items regarding demographic information, relationship to Fragile X, and perceived supports/needs. The survey should take about 20–25 minutes to complete. The survey may be completed in more than one sitting.
What are the good things that can happen from this research?
Potential benefits of participating in the study:
- The participant may experience an increase in awareness about medical/mental health care and family needs as a result of completing the survey, which may assist with self- and family-advocacy to obtain needed services and supports. The information that is shared by participants is hoped to lead to the improvement of service coordination and delivery directly affecting premutation carriers, people with Fragile X syndrome, and family members.
- Improvements in care coordination and delivery made possible by knowledge gained from the proposed research may help enhance quality of life in the Fragile X community and contribute to positive outcomes for this population.
- The proposed study will contribute to the body of research on the needs of people in the Fragile X community across the lifespan. The proposed research will also help narrow the gap in the literature seeking to understand the medical and psychiatric complexities associated with a diagnosis of the FMR1 premutation or full mutation.
What are the bad things that can happen from this research?
- Physical risk: There are no foreseen physical risks associated with the proposed research.
- Psychological risk: The participant may experience mild psychological discomfort (distress) responding to items about challenges, concerns, or unmet individual/family needs.
- Social risk: The prospective participant may perceive social pressure to complete the survey in the event they learn about the study from and/or are encouraged to participate by a known person in the Fragile X community or a family member.
- Economic risk: There are no foreseen economic risks associated with the proposed research.
Will you/your child be paid to complete this survey?
No.
Study Doctor
Kathryn Ellerbeck, MD, MPH, FAAP
Kansas Fragile X Clinic
University of Kansas
Our Most Recent Opportunities
Survey: Share Your Experience With Telehealth and Services During COVID
Parents or caregivers of individuals with Fragile X syndrome who has received services via telehealth during the COVID-19 pandemic may be eligible to participate.
Study: Focus Group on Difficulty with Changes and Rigid/Inflexible Behaviors in Fragile X Syndrome
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.
Study: Adult Fragile X Premutation Carriers Needed for Registry
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.
Survey: Cannabidiol (CBD) Use with Fragile X Syndrome
A Mount Sinai Genetic Counseling graduate student is conducting a research study to learn about possible benefits and side effects of CBD supplements when used to treat FXS symptoms. This information will be obtained by using an anonymous online parental and caregiver survey. About the Survey Who can participate? Parents and caregivers caring for somebody with FXS who uses, or has used, CBD supplements may be eligible to participate. The parent or caregiver responding to the survey must be at least 18 years old. The individual with ...
Exploring the Most Important Information for New Premutation Carriers
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.
Parents and Caregivers of Adults with Fragile X Syndrome Needed for a Survey
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 ...