Lunch & Learn Series: FMR1 Carriers Report Executive Function Changes Prior to FXTAS: A Longitudinal Study

This project focuses on men living with the FMR1 premutation who are at high risk of developing FXTAS. Study participants were enrolled before they had any significant neurological symptoms and followed over time (for years) to learn how FXTAS symptoms develop and what factors might be driving them.

• Read the study FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study (Movement Disorders)
• Read our summary of the study.

We do not have accurate methods to predict who will and will not develop FXTAS or when the disease will start. However, if changes to executive functioning precede the onset of FXTAS, then we can use this as part of an assessment to identify people who might be most at risk and start them on lifestyle changes or medicines to stop or slow down the development of the disease before more significant changes happen in the brain.

Researchers plan to expand this work significantly with larger numbers of participants and want to emphasize follow-up on participants over a longer time to learn more about risks and protective factors.

This study used the Behavior Rating Inventory of Executive Function – Adult (BRIEF-A) tool to assess executive function.

A moderated Q&A follows the presentation by Dr. Hessl. A few topics and take-aways discussed during the webinar include:

• Current work and research focus on the risk of developing FXTAS and protective factors against the development of FXTAS.
• Executive functioning pertains to a range of different cognitive skills and functions such as: inhibiting impulses, paying attention over time, selective attention (focusing on what you need to pay attention to while avoiding distractions), planning and organization, and working memory (keeping information in mind while working on something else). Examples of executive function include constantly losing track of things, losing their train of thought, and impulsiveness in conversations and actions.
• How can we identify people at the highest risk for developing FXTAS? This is a driving question for this research. This is important because, as most experts agree, when we find disease-modifying interventions (such as medications and therapies), they are most effective before a disease’s clinical signs and symptoms emerge or at the very earliest stages of symptoms.

About the Lunch & Learn Series

Research on FMR1-associated conditions has been ongoing for many years, and it continues to grow and evolve. However, the results and scientific papers that come from research are not always widely accessible (or digestible) to the general public. The Lunch & Learn Series aims to highlight current research in the Fragile X field on an interactive platform, providing a space for researchers to present their study results, discuss the importance of their research and what it means to the Fragile X community, and answer questions directly from the audience.