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

with David Hessl, PhD

Research on FMR1-associated conditions has been going on for many years, and only 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.

During this 45-minute Lunch & Learn webinar, Dr. Hessl discussed the details of a longitudinal study that looked at executive functioning changes in men living with the FMR1 premutation.  He described how the study was done, what the results showed, and more over, why the results are important, what they mean for the FX community, and next steps to move us forward.

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

Discussion:  FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study

In this 45-minute webinar, Dr. Hessl presented on a longitudinal study and discussed the results and what they mean for FXS research and future steps.  Following Dr. Hessl’s presentation was a moderated Q&A centered around this research study.  Below are a few topics and take-aways discussed during the webinar.

• Executive functioning pertains to a range of different cognitive skills/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, working memory (keeping information in mind while working on something else).
• Common examples of executive function include constantly losing track of things, losing train of thought, becoming more impulsive in conversations/actions.
• The Behavior Rating Inventory of Executive Function – Adult (BRIEF-A) tool was used in this study to assess executive function.
• Current work/research focuses on the risk of developing FXTAS and protective factors against the development of FXTAS.
• A driving question for this research:  How can we identify people who are at highest risk for developing FXTAS?  This is important because, as most experts agree, when we find disease-modifying interventions (i.e. medications, therapies), they’re most effective before the clinical signs/symptoms of a disease emerge or at the very earliest stages of symptoms.
• This project focused on men living with the FMR1 premutation who were at high risk of developing FXTAS. Study participants were enrolled before they had any significant neurological symptoms and were followed over time (for years) to learn about how FXTAS symptoms develop over time and what factors might be driving FXTAS.
• Currently, we do not have accurate methods to predict who will develop FXTAS and who will not, or when the disease will start. However, if changes to executive functioning precede FXTAS, then we can use assessments to identify people living with the premutation who might be most at risk and get them started right away with lifestyle changes or even medicines to stop or slow down the development of the disease before more significant changes happen in the brain.
• Researchers are planning 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.

Learn More About the Panelist

David Randal Hessl, PhD

Professor of Division of Clinical Psychology at UC Davis
Dr. David Hessl is a clinical psychologist offering assessment, treatment recommendations and consultation to individuals with neurodevelopmental disorders.  He has special clinical interest and expertise in fragile X-associated conditions, autism, ADHD, Down syndrome and intellectual disability. 

He directs the Translational Psychophysiology and Assessment Laboratory (T-PAL) at the MIND Institute to investigate the emotional psychophysiology of children with neurodevelopmental disorders, and to develop novel outcome measures for clinical trials.  His research focus is primarily on fragile X-associated conditions, such as fragile X syndrome (FXS) and fragile X-associated tremor ataxia syndrome (FXTAS).  His lab has contributed to the refinement or development of cognitive and behavioral assessments for people with disabilities.

Additional Resources

We are excited to share information and resources on our website that was referenced during the webinar.  We have included the link to additional resources and information below.

• Research Results Summary
• Article in Movement Disorder Journal