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Arnold School of Public Health

Study seeks to understand aging-related decline among mothers who carry FMR1 premutation

January 23, 2023 | Erin Bluvas,

Associate professor of communication sciences and disorders Jessica Klusek has been awarded $2.9 million from the National Institute on Aging. The R01 grant will enable Klusek to her extend her research into the effects of the FMR1 premutation on mothers who carry it.

These women are at increased risk for a range of health problems (e.g., infertility, premature menopause, neurogenerative disease, autoimmune/chronic pain disorders, depression/anxiety, social impairments), which can cluster together and happen at the same time. The project will serve as the first longitudinal study to examine aging symptom trajectories to better understand the critical age periods and risk factors for age-related decline in women who carry the FMR1 premutation.  

This study will include 150 women – half of whom carry the FMR1 premutation and have at least one child with fragile X syndrome and half of whom do not have the premutation nor a known family history of fragile X-associated conditions. Ages 45-78 at the time they join the study, the participants will complete three yearly assessments. The study’s longitudinal design and advanced statistical modeling methods will allow the researchers to track symptoms (mental health, executive, social) across several decades of life using age cohorts.

One in every 151 women carry the premutation allele of the FMR1 gene. When passed to their children, this genetic mutation can lead to disorders such as fragile X syndrome, the most common single-gene cause of autism spectrum disorder. Klusek’s work supports both mothers affected by the FMR1 premutation and their children with fragile X syndrome.

Her fragile X syndrome research, which Klusek funds as a co-investigator on a $3.1 million grant from the Eunice Kennedy Shriver National Institute of Child Health & Human Development, focuses on communication and social challenges experienced by youth with fragile X syndrome as they transition into adulthood. She also approaches this family-based challenge from the perspective of the mother – who is not only at risk for her own adverse health effects from being an FMR1 carrier but who also is often exposed to chronic stressors associated with the challenges of caring for one or more children who have fragile X syndrome.

“The stressors associated with parenting a child with a disability can exacerbate preexisting biological vulnerabilities in mothers who carry the FMR1 premutation,” says Klusek, who notes that older age appears to further increase the risk. “This is concerning because it is common for adult-aged children who have fragile X syndrome to continue to live with their parents and rely on them for advocacy and daily care well into their adult years. Therefore, the age-related health of mothers who carry the FMR1 premutation has implications for the outcomes of both the mother and her children.”

In 2019, Klusek won an Early Career Award from the NIDCD to identify the full range of communication (oral and written) and cognitive-executive features experienced by women who carry the FMR1 premutation. This study and others of Klusek’s offered new insights regarding who is at most risk (both genetically and by age) for mental, cognitive and physical health declines and laid the groundwork for the current project to track these symptoms over time.

Klusek and her team at the South Carolina Family Experiences Lab are looking for participants for this and other studies aimed at understanding and providing solutions to the challenges faced by mothers who carry the FMR1 premutation and children who have fragile X syndrome and autism. Learn more about participation here.


Study sheds light on age-related vulnerabilities faced by women who carry FMR1 premutation

Jessica Klusek wins Early Career Award to study communication abilities of mothers who carry the FMR1 premutation

COMD’s Jessica Klusek to lead USC’s role in $3.1 million NIH grant to study fragile X syndrome

Jessica Klusek joins COMD, bringing expertise in communication abilities in connection with autism and fragile X syndrome

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