Authors: Reymundo Lozano, Talia Thompson, Jayne Dixon-Weber, Craig A. Erickson, Elizabeth Berry-Kravis, Sara Williams, Elizabeth Smith, Jean A. Frazier, Hilary Rosselot, Cristan Farmer, and David Hessl
Summarized by Jayne Dixon-Weber
Summary
Most caregivers report that individuals with fragile X syndrome (FXS) have high levels of anxiety. However, anxiety is challenging to measure because most individuals with FXS cannot state themselves that they are anxious or have anxiety. The NFXF conducted a comprehensive survey of the presence, frequency, and duration of what caregivers observed when they said the individual was anxious; the survey was completed by caregivers of 456 individuals with FXS, ages 2–81 years, and 24 female and 2 male FXS self-advocates, ages 15–66 years. Caregivers reported classic observable indicators of anxiety, such as avoidance, irritability, agitation, repetitive behavior, aggression, and self-injury. Self-advocate accounts largely paralleled caregiver data.
The results determined that caregivers are capable of observing and reporting behaviors that are valid indicators of anxiety that are usually reported in self-report standardized assessments. This was an important first step in addressing parents’ report that anxiety is one of the primary areas of concern in the individual with FXS. The next step is to develop an anxiety measure for FXS that can be used in future studies.
Why This Matters
Most individuals with FXS cannot state themselves that they are anxious and self-report is needed in current standardized assessments. The information analyzed in this study will result in the development of a measure where observable and quantifiable data on anxiety in those with FXS can become an outcome measure to be used in future research/trials.
Next Steps
Based on the results of this survey, members of the steering committee of the CDC-funded FORWARD-MARCH project will develop an anxiety questionnaire that will be administered as part of the study protocol.
FORWARD-MARCH is the next phase of FORWARD, a natural history study that allows specialty clinics across the U.S. to work together and gather important information about people of all ages with FXS.
Acknowledgements
We thank all the families and self-advocates who participated in this study, and the National Fragile X Foundation.
FOR MORE DETAILS VISIT:
Read the open access article Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives on our website.
Lozano R, Thompson T, Dixon-Weber J, Erickson CA, Berry-Kravis E, Williams S, Smith E, Frazier JA, Rosselot H, Farmer C, Hessl D. Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives. Genes. 2022; 13(9):1660. https://doi.org/10.3390/genes13091660
more research results
The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women
Researchers at the University of Wisconsin explored the relationship between obtaining a college degree and the manifestation of the neurodegenerative symptoms of FXTAS among women at elevated genetic risk.
Fragile X-associated tremor/ataxia syndrome rating scale: Revision and content validity using a mixed method approach
Researchers across several institutions set out to develop a revised version of the FXTAS-RS designed to specifically assess FXTAS motor signs.
FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers
Researchers at the University of Wisconsin looked at the relationship and influence of FMR1 CGG repeats and stress on self-reported cognitive functioning in mothers.
The diagnostic experience of women with fragile X–associated primary ovarian insufficiency (FXPOI)
Researchers at Emory University conducted qualitative interviews with 24 women with FXPOI exploring how FMR1 screening, physician education, and supportive care impacted their experience receiving a diagnosis. Their results are in!