I Have the Fragile X Premutation…Now What?— Webinar

With Drs. Deborah Barbouth, Emily Allen, Reymundo Lozano, and David Hessl

When you or a loved one learns they have the Fragile X premutation, it can be a confusing and overwhelming time. Often filled with many questions and concerns about what this means for your health and the impact this diagnosis may have on you and your family in the future.

Our panelists shared strategies to help manage the risk of developing and treating Fragile X-associated conditions., and recommendations for informing and advocating for your healthcare and mental health needs with your providers. This conversation focused on the individual living with the Fragile X premutation, while also recognizing this individual may be a multi-generational caregiver within their family. Individuals with the Fragile X premutation may be caring for a child or children with Fragile X syndrome, and/or providing care for an aging parent, while also trying to prioritize their own health and wellness. As a caregiver, the individual may feel the needs of others should be prioritized.  It is important to recognize the concept heard in airline safety demonstrations and prioritize helping yourself first before you help others. Self-care, health, and wellness management can be difficult to prioritize but should be viewed as a necessity, not a luxury.

NFXF Webinar Series: I Have the Fragile X Premutation…Now What?

I Have the Fragile X Premutation Discussion

The webinar was a facilitated one-hour Q&A session covering a wide range of topics. The panelists shared recommendations and information during the discussion, each from their professional perspectives.

One of the most important strategies discussed was implementing general lifestyle and wellness management. This includes a healthy diet, regular exercise, sleep, and avoiding alcohol and substance use. If you are at risk for or concerned about developing a Fragile X-associated condition, the panelists shared the following tips:

• Advocating with your healthcare provider to intervene and treat identified health concerns sooner may help improve outcomes.
• Consider regular screenings for anxiety, depression, and common health conditions such as high blood pressure and diabetes. When these conditions are left untreated, they can lead to physical symptoms and cognitive decline.
• Partner with your healthcare provider to monitor and manage vitamin levels. If a deficiency is identified, consult with your healthcare provider to discuss if supplementation is indicated.
• Research has shown that those who continue to participate in mentally stimulating activities, including those with higher education degrees, have been shown to provide neuroprotective effects. Learn more here.
• Many common conditions, such as thyroid dysfunction, neuropathy, anxiety, depression, etc., are not necessarily caused by the Fragile X premutation. Treatments, including medications, for these common conditions, are the same for both the individual living with the Fragile X premutation and those without.
• Cognitive decline is common with typical aging. If someone with the Fragile X premutation is concerned that there may be an accelerated cognitive decline, the panelists suggested discussing with your healthcare provider to have a Neuropsychological assessment to evaluate the different domains/areas for cognition/memory. Implement interventions/treatments to target the areas of concern that may have been identified during the evaluation.

Research is ongoing and continues to study if there are additional conditions or if there may be interventions and treatments for the Fragile X-associated premutation conditions. The International Fragile X Premutation Registry is open for enrollment. As a registrant, individuals may be notified of upcoming research opportunities and receive yearly updates about research developments in the field.

Learn More About the Panelists

Deborah Barbouth, MD

Dr. Deborah Barbouth is the medical director of the multidisciplinary South Florida Fragile X Clinic (SFFXC). She has contributed to the clinical care of patients and delved into the realm of translational genetics. The SFFXC provides comprehensive care and treatment to children and adolescents affected by Fragile X, while also offering compassionate support, services, and referrals to local and community programs. With the long-term vision of having a Fragile X clinic that serves all members of a family. The clinic has expanded to include an adult neurologist and psychiatrists to serve adults with Fragile X-associated tremor/ataxia syndrome (FXTAS), adults with Fragile X, and mothers of individuals with Fragile X. 

Emily Allen, PhD

Emily Allen graduated from the University of Georgia with a bachelor’s degree in biology and from Emory University with a PhD in genetics. She has worked on studies of Fragile X-associated disorders at Emory University with Dr. Stephanie Sherman since the early 2000s. Her primary research focus has been on disorders and characteristics associated with the Fragile X premutation, such as Fragile X-associated primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS).

Reymundo Lozano, MD

Dr. Lozano, Assistant Professor of Psychiatry, Genetics and Genomic Sciences, and Pediatrics, is a pediatric and adult clinical geneticist with neurodevelopmental and aging research training. He has dedicated his research to better understand the molecular basis of neurodevelopmental disorders including autism and dementia. He directs the Fragile X Syndrome (FXS) Clinic at Mount Sinai and specializes in the treatment of FXS, Kabuki syndrome, Wiedemann-Steiner syndrome, and FOXP1. As a collaborator on several clinical trials in FXS and autism, Dr. Lozano is committed to finding targeted treatments and has consulted for genetic laboratories, pharmaceutical companies, and other non-profit organizations.

David Hessl, PhD

Dr. Hessl David is a licensed psychologist. His clinical interests involve cognitive, emotional, and behavioral evaluation of children, adolescents, and adults with neurodevelopmental disorders including Fragile X syndrome and autism. David is currently the director of the Translational Psychophysiology and Assessment Laboratory (T-PAL). His research focuses primarily on genetic, brain, environmental, and neuroendocrine factors affecting cognition and behavior in individuals with Fragile X-associated disorders. A second focus of Dr. Hessl’s work is the study of the Fragile X premutation. David co-directs an NIMH-funded project examining the trajectory of changes over time in brain structure, neuropsychology, and neurological/motor functioning in those with the FMR1 premutation. He is a leader of the efforts and a member of the Advisory Committee for the International Fragile X Premutation Registry.

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Additional Resources

Below are the links to resources on our website that were referenced during the webinar. We encourage sharing these with your healthcare providers.

• Fragile X Premutation Resources (fragilex.org)
• FXTAS Resources (fragilex.org)
• Fragile X-associated Tremor/Ataxia (FXTAS) | Webinar
• FXPOI Resources (fragilex.org)
• Reproductive Health and Your Options | NFXF (fragilex.org)
• Reproductive Health | Webinar (fragilex.org)
• International Fragile X Premutation Registry | Focused Project
• Find a Fragile X Clinic Near You | Resources for Families
• Treatment and Intervention Recommendations for Fragile X
• Summary of the publication, Insight and Recommendations for Fragile X Premutation Associated Conditions from the 5th International Conference on FMR1 Premutation | NFXF
• The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women | NFXF (fragilex.org)
• FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers | NFXF (fragilex.org)