keynote

You Really Are Never Too Old to Wear a Pink Tutu

Plus Other Lessons Our Son Has Taught Our Family

Presented by: Jayne Dixon Weber

Jayne Dixon Weber tells her personal story of being a parent of a son with Fragile X syndrome. She discusses her relationship with Ian, the various transitions he’s been through in his life, and how she, her husband, and her daughter Cassie, worked together throughout. Ian is now a young adult with a part-time job, though COVID-19 has caused interruptions in his routines. Jayne talks about this and other treatment and intervention challenges they’ve faced throughout his lifetime.

panel discussion

Development & Behavior

Moderated by Robert Miller

Presented by: Rebecca Shaffer, Barbara Haas-Givler, Tracy Murnan Stackhouse, Kristin Burgess, and Ruth Meissner

An expert panel takes question from the global audience and discusses topics like how to discern between hyperarousal and behavior that needs addressing via discipline, handling meltdowns and anxiety, aggressive behaviors, how to read anxiety in toddlers, and teaching self regulation. The panel also shares the self-regulation strategies they’ve seen the most success with, and how to determine if aggression is stemming from anxiety or hyperarousal.

panel discussion

Education

Moderated by Jayne Dixon Weber and Linda Sorensen

Presented by: Jeanine Coleman, Barbara Haas-Givler, Tracy Murnan Stackhouse, Kerrie Chitwood, and Karen Riley

An expert panel shares their knowledge on education and schooling for individuals with Fragile X syndrome. Questions from the global audience include fighting for general education support, math program recommendations, maximizing your child’s IEP, making the decision between homeschool, mainstream, or private, and much much more.

presentation & discussion

Transitioning to Independence in Adulthood

What Helps? What are the Barriers?

Presented by: Leonard Abbeduto, Jessica Klusek, Julie Lounds Taylor, and Angela John Thurman

Few adults with Fragile X syndrome meet normative expectations in education, employment, peer relations, self-care, and their place of residence. In fact, up to 90% of males and 56% of females with FXS achieve only very low to moderate levels of independence as adults relative to their typically developing peers. Limited independence can create a financial and psychological challenge for families, limit the opportunities for community participation, and lower the quality of life for adults with FXS. The expert panel presents research-based information on the factors that promote and hinder the transition to independence.

panel discussion

Adult Issues

Moderated by Robert Miller

Presented by: Elizabeth Berry-Kravis, Randi Hagerman, Craig Erickson, Marcia Braden, Jayne Dixon Weber

Parents and other caregivers must consider many factors when caring for adults with Fragile X syndrome, and the process of planning and obtaining adequate care can be quite complicated. If you’re currently caring for an adult with FXS, the expertise behind this panel is second to none.

presentation

The Fragile X Protein

What It Does and How Much Is Enough

Presented by: Paul Hagerman

The Fragile X protein (FMRP) plays a central role in the development of intelligence. However, the shear complexity of its many functions tends to confound the development of targeted treatment for FXS. Moreover, there are some basic questions that have not been answered. Dr. Paul Hagerman addresses basic questions about this remarkable protein to help us gain a deeper appreciation of its role in developing cognitive strength, and how better treatments might develop for those who do not have enough FMRP.

panel discussion

Young Children

Moderated by Linda Sorensen

Presented by: Anne Hoffmann, Jennifer Epstein, Jeanine Coleman, and Tracy Murnan Stackhouse

Our expert panel discusses the issues around caring for young children with Fragile X syndrome, including speech development, integrating with their typical siblings, occupational therapy, behavioral issues, and much much more.

presentation

Medications for Fragile X: Anxiety, Irritable Behaviors & Aggression

Moderated by Robert Miller

Presented by: Elizabeth Berry-Kravis and Craig Erickson

Drs. Berry-Kravis and Erickson discuss currently available supportive medications for treating anxiety and irritable, agitated, and aggressive behaviors in Fragile X syndrome. Medication classes and specific medications within each class are discussed, including SSRIs, mood stabilizers, and antipsychotics. Also discussed: mechanism of action of different medications, dosing strategies, and potential benefits and side effects seen in different medications.

panel discussion

Clinical Trials in Fragile X Syndrome

Moderated by Jayne Dixon Weber

Presented by: Elizabeth Berry-Kravis, Craig Erickson, and Randi Hagerman

Using terms more familiar to families, the panel presents an overview of results from recently completed clinical trials, plus summaries of currently active trials and development programs for new medications in Fragile X syndrome. For each, the panel discusses how each medication works in the Fragile X brain, followed by a brief summary of any positive effects the medication had in animal models of FXS, and the findings that led to the clinical trial in humans with FXS. Medications include acamprosate, gaboxadol, mGluR5, lovastatin, metformin, cannabadiol, AZD7325, BPN 14770, and more. (You may also want to visit the MyFXResearch portal for a list of all current trials, studies, and surveys.)

panel discussion

Medications

Moderated by Jayne Dixon Weber

Presented by: Elizabeth Berry-Kravis, Craig Erickson, and Randi Hagerman

Our expert panel discusses and takes questions from viewers about medications ranging from the age anxiety medications should be considered, which issues should be targeted first, medications for aggressive behavior, side effects, and much much more.

keynote

Health Concerns for Women Who Carry an FMR1 Premutation

FXPOI & Beyond

Presented by: Emily Allen

Emily Allen discusses some of the health concerns of women who are premutation carriers. She shares Fragile X-associated primary ovarian insufficiency research findings from her group at Emory University as well as from other researchers, and covers some of the more recent findings of other medical conditions that are reported by women who carry a premutation, such as depression, anxiety, headaches, and autoimmune conditions.

keynote

CGG Repeats as Disease Drivers and Therapeutic Targets in Fragile X-Associated Tremor/Ataxia Syndrome

Presented by: Peter Todd

All Fragile X-associated disorders result from expansion of a CGG trinucleotide repeat in the DNA. In premutation disorders, this repeat can cause neuronal dysfunction and death through multiple different mechanisms. Understanding these different mechanisms is critical to the development of effective therapies for FXTAS, FXPOI, and other premutation disorders, and is also relevant to strategies being developed for Fragile X syndrome that aim to reactivate the Fragile X locus. This talk provides a broad overview of the different potential mechanisms by which CGG repeats might cause disease and discusses some of the approaches Dr. Todd’s lab has taken to target these mechanisms as a first step in therapy development.

presentation

Fragile X-Associated Tremor/Ataxia Syndrome 101

Presented by: Deborah Hall and Maureen Leehey

Fragile X-Associated Tremor/Ataxia Syndrome occurs in premutation carrier men and women over the age of 55, and is associated with tremor, balance problems, and other neurological signs. Neurologists Drs. Deborah Hall and Maureen Leehey — who have been treating FXTAS patients over the last two decades — provide an overview of FXTAS, a summary of the clinical features in the disease, and treatment options, including surgery, for FXTAS patients. Patients, caregivers, junior researchers and others may benefit from the material in this presentation.

presentation

Reproductive and Gynecologic Care for Women with the Fragile X Premutation

Moderated by Jayne Dixon Weber

Presented by: Heather Hipp, Jennifer Barber, and Keiko Mathewson

Women who carry a premutation for Fragile X have a 20% risk of developing Fragile X-associated primary ovarian insufficiency, or FXPOI. Women with FXPOI struggle with both infertility and the health effects of early onset ovarian insufficiency, including hot flushes, night sweats, and risks of osteoporosis. Many women do not receive adequate hormone replacement therapy, which has been shown to be protective against these risks. For women who are carriers and are still having menstrual cycles, there is information that CGG repeat length and history of tobacco use can help predict risk of FXPOI. Ovarian reserve markers, such as AMH, are also often used, though these have not been validated in young women with the premutation. Women at high risk may consider earlier childbearing or methods of fertility preservation, such as egg (oocyte) or embryo freezing. If they do decide to have children, they can spontaneously conceive and, if desired, pursue prenatal testing for the Fragile X mutation with chorionic villus sampling or an amniocentesis. Women can also undergo in-vitro fertilization with pre-implantation genetic testing on their embryos if they do not want to pass on the mutation to a child.

panel discussion

Fragile X-Associated Tremor Ataxia Syndrome

Moderated by Robert Miller

Presented by: Deborah Hall, Maureen Leehey, Peter Todd, and Nancy Hertzig

Fragile X-associated tremor/ataxia syndrome occurs in premutation carrier men and women when they are over the age of 55. It is associated with tremor, balance problems, and other neurological signs. The expert panel answers questions from caregivers, clinicians, researchers, and of course FXTAS patients.

presentation

International Fragile X Premutation Registry

Presented by: David Hessl and Robert Miller

Dr. David Hessl provides an introduction and overview of a collaborative effort between NFXF, the UC Davis MIND Institute, and others to develop the International Fragile X Premutation Registry for those with the Fragile X premutation. The registry is an opportunity for those with the premutation, whether they have FXTAS, FXPOI, other symptoms, or none at all, to contribute to our understanding of the medical and psychological implications of the premutation, with the goal of improving diagnosis and treatment.

panel discussion

Premutation Carrier Concerns

Moderated by Linda Sorensen

Presented by: Randi Hagerman, Heather Hipp, Emily Allen, and Marsha Mailick

When you or someone in your family are told you are a “carrier” for a Fragile X mutation, many questions arise. The expert panel helps answer what it means for your health, your family, and your future.

keynote

Basic Science Research Update: From FMRP Biology and FXS Disease Mechanisms to Rationale for Therapeutic Strategies

Moderated by Jayne Dixon Weber

Presented by: Gary Bassell

Dr. Gary Bassel provides an overview of the FMRP protein, focusing on its important functions in neurons and at synapses in the brain, and the challenges created to maintain proper neuronal functioning in Frgile X syndrome due to loss of FMRP. He also discusses the value of different animal models, emerging applications of human stem cell research, and provides the rationale into the underlying basic science that has motivated the development of therapeutic strategies for FXS.

presentation

Increasing Access to Services for Families of Infants with Fragile X

Utilizing Telehealth for Genetic Counseling, Assessment, and Intervention

Presented by: Anne Wheeler, Beth Boyea, and Katherine C. Okoniewski

For the last year and a half, all birthing families in North Carolina have been offered voluntary newborn screening for Fragile X syndrome through an innovative research program known as Early Check. Genetic counseling, developmental surveillance, family support, and early intervention programming are all offered to families whose infant screens positive for FXS or a premutation. In this presentation, you’ll hear an overview of how the Early Check team is integrating telehealth models in order to provide families with necessary information, support, surveillance, and intervention.