Authors: Jinkuk Hong, Robert S. Dembo, Leann Smith DaWalt, Murray Brilliant, Elizabeth M. Berry-Kravis, Marsha Mailick

Summary

Earning a college degree has been shown to provide neuroprotective effects in the general population. Neuroprotective effects have been shown to delay the development of conditions such as Alzheimer’s disease. For this reason, the researchers conducting this study wanted to see if attaining a college degree could potentially be a resource for those at risk of FXTAS (Fragile X-associated tremor/ataxia syndrome). FXTAS, a neurodegenerative condition which begins after age 50, is characterized by tremors, gait ataxia (abnormal, uncoordinated walking), executive function deficits, memory issues, and neuropathy (a dysfunction of the nerves that causes weakness, numbness, or pain). After age 50, women who carry the FMR1 premutation are at risk for developing symptoms of FXTAS; however, studies suggest that only about 16% are clinically diagnosed with this condition.

These researchers set out to explore the relationship between obtaining a college degree and the manifestation of the neurodegenerative symptoms of FXTAS among women at elevated genetic risk. The 93 women who participated in this study were premutation carrier mothers of individuals with FXS and they all had the two primary risk factors for FXTAS: older age and higher CGG repeats within the premutation range. Data were collected through telephone interviews and self-reported questionnaires. However, the study did not include a clinical assessment of FXTAS; researchers only evaluated FXTAS symptoms associated with self-reported responses from the Family Study Questionnaire, a subjective measure.

The results of this research suggest significantly more severe FXTAS symptoms in women who did not attain a college degree as compared with those who did, despite the two groups being similar in age, genetic risk, household income, health behaviors, and general health problems. Additionally, symptoms in women who did not attain a college degree worsened over the 9-year study period at a significantly faster rate than the symptoms of the women with college degrees. Researchers also found the association between earning a college degree and FXTAS symptoms was explained by depression, which was lower among the graduates than those who did not attain a college degree.

Why This Matters

With FXTAS being such an underreported disorder, by the time symptoms are apparent, it may be too late to take effective, preventative action against the progression of FXTAS. This research is important because it demonstrates that protective measures, such as getting a college education, can be taken by premutation carriers that may, perhaps, delay the onset of FXTAS or lessen the severity of FXTAS symptoms.

Next Steps

Overall, this study illustrates how sociodemographic factors, such as earning a college degree, can reduce the risk of FXTAS symptoms for FMR1 premutation carriers by way of improved mental health. However, there is plenty of opportunity to further this research. For instance, 95.6% of study participants were White non-Hispanic; therefore, the population studied is not truly representative of the greater population, and we cannot simply translate these results to “everyone”. Without a more diverse study population, how can we know that a college education has similar effects for racial/ethnically diverse individuals? How can we know that it is, in fact, the college degree that leads to less severely reported FXTAS symptoms, and not other life-enhancing events that help prevent FXTAS from progressing? Furthermore, future researchers should think about utilizing more objective, clinical assessments to measure FXTAS symptoms as opposed to the subjective self-reporting measures analyzed in this present research. This study was a great first step in understanding how socioeconomic and sociodemographic factors, such as earning a college degree, can affect disease severity, but we need more work to be done to see the bigger picture.

Funding & Acknowledgements: This research was funded by NICHD grant R01 HD082110 (Marsha Mailick, Principal Investigator). We are extremely grateful to the participants in this research, and to Renee Makuch for supervising the data collection. We are thankful to Tracy King, MD (NICHD) for encouraging this research.

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