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:
  • Fragile X-associated primary ovarian insufficiency (FXPOI)
  • Fragile X-associated tremor/ataxia syndrome (FXTAS)
  • Fragile X-associated neuropsychiatric disorder(s) (FXAND)
• 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

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