Authors: Jessica Klusek, Jinkuk Hong, Audra Sterling, Elizabeth Berry-Kravis, and Marsha Mailick
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.
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.
more research results
Your summary of the results, including why it matters to you and next steps, from the Dr. Liz Berry-Kravis and Tetra Therapeutics BPN14770 trial results published in Nature Medicine. This was a randomized, double-blind, placebo-controlled, two-period crossover study.
Cortical Gyrification and Its Relationships With Molecular Measures and Cognition in Children With the FMR1 Premutation
Jun Yi Wang and the study team out of the UC Davis MIND Institute are interested in learning more about the premutation carrier condition in relations to brain development and its impact on cognition. These mental processes impact the higher-level functions of the brain including language, learning new things, and making decisions.
Telehealth-Enabled Behavioral Treatment for Problem Behaviors in Boys With Fragile X Syndrome: A Randomized Controlled Trial
Dr. Hall and his team at Stanford University are learning about potential behavioral treatments for problem behaviors. Previous research suggests that problem behaviors, like aggression, self-injury, and property destruction, may occur at higher rates in individuals with FXS.
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
We know that FMRP is expressed throughout our body, including our blood, tissues, and brain. Levels of FMRP in the blood of patients with FXS have been positively correlated with cognitive performance, specifically intelligence quotient and adaptive behavior.
RESEARCH RESULTS ROUNDUP — The authors sought to clarify how often other health-related conditions, such as migraines and sleep problems, occur among women with a premutation.
Cerebellar-Cortical Function and Connectivity during Sensorimotor Behavior in Aging FMR1 Gene Premutation Carriers
RESEARCH RESULTS ROUNDUP — Investigation into how aging as a premutation carrier of the FMR1 gene may affect sensorimotor (exactly as it sounds, both sensory and motor) brain systems.