Authors: Jessica Klusek, Jinkuk Hong, Audra Sterling, Elizabeth Berry-Kravis, and Marsha Mailick
Summary
Drs. Jessica Klusek, Marsha Mailick, and colleagues investigated how a dimension of executive function, inhibition, is affected by age and FMR1 CGG repeats among mothers of children with Fragile X syndrome. Inhibition is the ability to suppress an action, such as not eating that piece of chocolate even though you really want it. Difficulties with inhibition can affect relationships and are linked to mental health problems. This study looked at relationships between inhibition, measured in two different ways, and individual factors, such as age and the FMR1 gene, among female premutation carriers.
This study included 134 premutation carriers who were mothers of children with Fragile X syndrome. Participants completed a test over the phone called the Hayling Sentence Completion Test, which directly measures verbal inhibition (i.e., how quickly and accurately a participant completes a sentence). Separately, participants answered questions about daily tasks associated with inhibition, such as waiting your turn. FMR1 CGG repeat length was also measured.
On the Hayling test, greater difficulties with inhibition were associated with older age. Additionally, individuals who had CGG repeats between 80 and 90 had greater difficulties with inhibition compared to individuals with who had 90–115 CGG repeats. On the questionnaire, participants with 90–110 CGG repeats reported the greatest difficulties with daily activities of inhibition.
Why This Matters
This study highlighted that older mothers of children with Fragile X syndrome (over 70 years) who have “mid-range” CGG repeats (~80–100) may be at increased risk for difficulties with inhibition. The mid-range has been previously associated with risks for mental health problems and FXPOI, as well as increased vulnerability to stress, suggesting important implications for these individuals’ health and well-being.
Next Steps
Researchers would like to better understand how age-related differences in inhibition may be associated with changes in the brain. Such information may provide insight into FXTAS and the role of the FMR1 gene in aging.
Funding: This work was supported by the National Institutes of Health under grant numbers R01HD082110, P30 HD003100-S1, U54 HD090256, R21DC017804, R03HD098291.
more research results
Exploring Parents’ Concerns Regarding Long-Term Support and Living Arrangements for Their Children with Fragile X Syndrome
Given the limited data regarding future planning specific to individuals with Fragile X Syndrome (FXS) and the growing population of this community, this study sought to explore the concerns and challenges caregivers of individuals affected by FXS encounter when considering long-term support plans.
Long-Term Follow-Up of Telehealth-Enabled Behavioral Treatment for Challenging Behaviors in Boys with Fragile X Syndrome
This study showed the significant impact that behavioral treatments can have on rates of challenging behaviors commonly exhibited by boys with FXS, particularly when parents are coached to implement the intervention with their child via telehealth.
Parent and Caregiver Perspectives towards Cannabidiol as a Treatment for Fragile X Syndrome
Some caregivers and parents of individuals with FXS have given CBD supplements to the individuals they care for and learning about their insights and experiences is important. This was the first study to learn more about their observations and opinions regarding CBD to treat FXS.
Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives
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.
Neuropsychological Changes in FMR1 Premutation Carriers and Onset of FXTAS
This is the first time that Fragile X premutation carriers have been tracked in a longitudinal study. This study provides evidence for early markers of FXTAS that may be helpful in eventually identifying the best candidates for early, preventive intervention.
The International Fragile X Premutation Registry: Building a Resource for Research and Clinical Trial Readiness
The first published publication from the International Fragile X Premutation Registry Advisory Committee. This International Fragile X Premutation Registry is an important first step and can serve as a useful tool for clinicians and researchers in the field.