NFXF Webinar Series

I Have the Fragile X Premutation … Now What?

01 h 00 m

Our panelists share 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 focuses on the individual living with the Fragile X premutation while also recognizing that they may be a multi-generational caregiver within their family.

About the Webinar

With Drs. Deborah Barbouth, Emily Allen, Reymundo Lozano, and David Hessl
Learn more about the presenters

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.

Individuals with the Fragile X premutation may be caring for a child or children with Fragile X syndrome or providing care for an aging parent, while also trying to prioritize their own health and wellness. As a caregiver, they 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.

This webinar was a facilitated one-hour Q&A session covering a wide range of topics. In this recording, expert panelists share recommendations and information from each of professional perspective.

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, and depression, 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 for cognition and memory. Implement interventions and treatments to target the areas of concern that may have been identified during the evaluation.

Register for the International Fragile X Premutation Registry: Research is ongoing and continues to study if there are additional conditions or if there may be interventions and treatments for 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.

Additional Resources

About the Presenters

Deborah Barbouth headshot.

Deborah Barbouth

South Florida Fragile X Clinic
Medical Director

Dr. Deborah Barbouth has contributed to the clinical care of patients and delved into the realm of translational genetics. The South Florida Fragile X Clinic provides comprehensive care and treatment to children and adolescents affected by Fragile X while offering compassionate support, services, and referrals to local and community programs. The long-term vision is to have a Fragile X clinic that serves all family members. 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, headshot.

Emily Allen

Emory University School of Medicine, Department of Human Services
Associate Professor

Emily Allen, PhD, graduated from the University of Georgia with a bachelor’s degree in biology and 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).

Rey Lozano

Reymundo Lozano

Mount Sinai, Icahn School of Medicine
Assistant Professor, Department of Genetics and Genomic Sciences and Department of Pediatrics

Reymundo Lozano, MD, MS, associate professor of Psychiatry, Genetics and Genomic Sciences, and Pediatrics and Department of Pediatrics, is a pediatric and adult clinical geneticist with neurodevelopmental and aging research training. He is the director of the Mt. Sinai Fragile X Spectrum Disorder Clinic, and as a collaborator on clinical trials in Fragile X syndrome, Dr. Lozano is committed to finding new pharmacological treatments.

Dr. Lozano enjoys working with the Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome scientific and medical communities, patients, and families utilizing current and innovative treatment strategies to ameliorate patients’ medical challenges. Dr. Lozano is a member of the NFXF board of directors and the Clinical Trials Committee.

David Hessl headshot.

David Hessl

UC Davis MIND Institute
Clinical Professor, Department of Psychiatry and Behavioral Sciences, School of Medicine

David Hessl, PhD, is a licensed clinical psychologist and the head psychologist at the Fragile X Research and Treatment Center at UC Davis, where FXTAS (Fragile X-associated tremor/ataxia syndrome) was first discovered and reported in 2001. His clinical interests involve cognitive, emotional, and behavioral evaluation of children, adolescents, and adults with neurodevelopmental disorders, especially those with Fragile X syndrome, autism, ADHD, and learning disabilities. He also has expertise in developmental psychopathology, particularly mood and anxiety disorders, in infants and young children.

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 work currently concentrates on autism, Fragile X syndrome, Down syndrome, and Fragile X premutation carriers, who are at risk for neurodegenerative disease.

He received his PhD in Child Clinical Psychology from the University of Washington in 1997, which included a clinical internship at Stanford University, and received postdoctoral fellowship training at the UC Berkeley Institute of Human Development during 1997-1998.

Dr. Hessl’s career has focused on Fragile X-associated disorders since 1998, having published 114 peer-reviewed journal articles on these topics to date. Dr. Hessl also serves on the National Fragile X Foundation’s Clinical Trials Committee.