Females with Fragile X Syndrome — Webinar

With Barb Haas-Givler, MEd, BCBA, Cora Taylor, PhD, Nicole Tartaglia, MD, Tracy Jordan, PhD, and Vicki Wilkins, MD

The multi-disciplinary panel discussed the unique experiences and support needs of females living with Fragile X syndrome (FXS), a spectrum condition that varies in severity and impact. While females may sometimes exhibit fewer overt support needs, they can be as significantly affected as males living with FXS. This complexity highlights the necessity for individualized approaches to support and intervention.

The discussion explored several key topics, including educational strategies, complementary therapeutic interventions, and medication options. The panel also tackled the often-asked question of why females are underrepresented in research opportunities, including clinical trials. Throughout the hour, the panelists consistently highlighted the importance of understanding the unique variability in how Fragile X syndrome (FXS) impacts females. Emphasizing that support strategies and interventions are most effective when they are meaningful to the individual. By tailoring these approaches to each person’s distinct strengths and interests, we can better support their success.

NFXF Webinar Series: Females with Fragile X Syndrome

Females with Fragile X Syndrome Discussion

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

The panelist emphasized a few crucial points throughout the webinar, such as focusing on individual interests and understanding the diagnosis as a starting point for identifying risks rather than a definitive outcome. the panelists shared the following tips:

• Individual-Centered Approach: It was consistently discussed the importance of tailoring interventions to the needs of the individual and should be determined based on their unique interests, strengths, and challenges. This personalized approach ensures that the interventions are more effective and engaging for the individual.
• Understanding Diagnosis as a Risk Identifier: One of the core messages was that a diagnosis of Fragile X syndrome should be viewed as a tool to understand what the individual may be at risk for, not as a definitive outcome. This perspective helps to shift focus toward proactive strategies and interventions.
• Prioritizing Appropriate Supports: The panel emphasized the importance of identifying specific risks and needs in order to prioritize the most relevant supports and interventions. These interventions could include educational, behavioral, employment, medical, and social supports.
• Effective Use of Medications and Therapeutic Interventions: When a medication is recommended to help address symptoms or specific behaviors, the panelists discussed they are most effective when used in combination with therapeutic interventions. Such as behavioral, cognitive, developmental, vocational, and educational therapies.
• Recommended Programs and Interventions: There is no universal program or therapeutic intervention that works for everyone. The What Works Clearinghouse website was mentioned as a resource to help identify evidence-based programs and interventions. Approaches such as Applied Behavior Analysis (ABA) and Cognitive Behavioral Therapy (CBT) were discussed, including a brief description of their specific considerations.
  • ABA is often more effective for younger individuals or those at earlier developmental stages, focusing on behavior modification and skill-building through structured learning.
  • CBT is typically more suitable for older individuals who have reached a certain level of cognitive and emotional development, as it helps address issues like anxiety and social challenges through self-reflection and coping strategies.
• Puberty and Reproductive Resources: A complex topic that requires careful consideration of each person’s unique needs to determine what supports and interventions are most appropriate. A collection of resources is available under Puberty & Sexuality and Reproductive Resources on our website. These are available to help provide general guidance, but personalized support should be discussed with the individual and their healthcare team.
• Research: We commonly hear feedback of frustrations that females with FXS are underrepresented in research projects. Historically, clinical trials have focused on males with Fragile X syndrome, who often exhibit more classic and consistent features, allowing for a greater likelihood of achieving measurable outcomes. This male-centered focus has been necessary to drive meaningful progress, as it enables researchers to make faster advancements and determine effective treatments that can be made available for all individuals living with FXS.
  • Dr. Tracy Jordan shared information about a multi-year research project that was focused entirely on females. Girl Band Study | Girl BAND Study | Stanford Medicine
  • Currently enrolling opportunities are available here: MyFXResearch Portal | National Fragile X Foundation
• Fragile X Clinics: Find a Fragile X Clinic Near You | Resources for Families

We are grateful to the professionals who shared their knowledge and expertise during the webinar, emphasizing the importance of personalized interventions based on each person’s unique needs. Key takeaways included using the diagnosis to identify risks, rather than outcomes, and prioritizing supports that are meaningful and tailored to the individual for the most effective results.

Learn More About the Panelists

Barb Haas-Givler, MEd, BCBA

Barbara Haas-Givler, MEd, BCBA is a board-certified behavior analyst and the Director of Education and Behavioral Outreach at Geisinger’s Autism and Developmental Medicine Institute in Lewisburg, PA. Ms. Haas-Givler has extensive experience in special education, serving in many different capacities over the course of her career, including classroom teacher, administrator, educational consultant, behavior analyst, and research associate for clinical pharmaceutical trials. Ms. Haas-Givler frequently presents at local and national conferences and provides consultations and training on strategies to support students with fragile X and other syndromes that result in complex intellectual and behavioral symptoms.

Cora Taylor, PhD

Dr. Taylor has expertise in the diagnostic evaluation of children with a range of developmental concerns. At Geisinger, Dr. Taylor conducts research and leads the phenotypic battery selection and administration on a variety of current research protocols at Geisinger, with a focus on the phenotypic characterization of individuals with rare genetic conditions. Dr. Taylor has experience in engaging families and family-based organizations for rare genetic conditions in research through online participation that is offered internationally to interested patients and families. Prior to joining Geisinger, Dr. Taylor completed her graduate training at the University of Tennessee, and a research and clinical postdoctoral fellowship at Vanderbilt University.

Nicole Tartaglia, MD

Dr. Nicole Tartaglia attended university and medical school at the University of Colorado. She completed her training in general pediatrics at Children’s Hospital Los Angeles, and fellowship training in Developmental-Behavioral Pediatrics at the University of California – Davis M.I.N.D. Institute, where her research focused on children and adults with developmental disabilities, chromosomal abnormalities, Fragile X syndrome, and autism spectrum disorder. She also obtained her Master’s in Clinical Investigation from the University of Colorado Graduate School. Since 2007, she has worked as faculty for the Colorado School of Medicine at Children’s Hospital Colorado in the Department of Pediatrics Section of Developmental Pediatrics, where she founded and directs the eXtraordinarY Kids Clinic for children and adolescents with sex chromosome disorders, and is also the director of the Denver Fragile X Clinic. In these clinics, she leads multidisciplinary teams that include medical providers, Genetic Counseling, Psychology, Speech-Language Therapy, Occupational Therapy, Nursing, and Social Work, and collaborates extensively with community providers, therapists, and schools to provide optimal care for these special populations. She also evaluates and treats children with general developmental delays, autism spectrum disorder, ADHD, and other neurogenetic disorders. She has federally funded research projects evaluating natural history and outcome measures in sex chromosome disorders and Fragile X, and collaborates with national networks of clinics to develop best practices for treatments of these conditions. She is also very active in clinical trials of targeted treatment medications for neurobehavioral features and developmental disabilities.

Tracy Jordan, PhD

Tracy Jordan, PhD is a licensed clinical psychologist and clinical researcher at the Stanford University Center for Interdisciplinary Brain Sciences Research. Her research interests include the intersection of genetic conditions and medical illness with cognitive, affective, and social functioning in children and adolescents. Currently, she is involved with a with a major longitudinal NIH-funded study of brain development, cognition, mood, and behavior in school-aged girls diagnosed with Fragile X syndrome. She has also been involved with projects examining neurocognitive development in school-aged boys with Klinefelter syndrome and girls with Turner syndrome.

Vicki Wilkins, MD

Dr. Wilkins is a pediatric hospitalist who specializes in provider-family communication, experience of care, and care for children with complex healthcare conditions. She has a son with Fragile X syndrome and developed a Fragile X practice and research portfolio. She trains and coaches physicians, nurses, and other healthcare providers in engaging in difficult conversations, conflict resolution, disclosure and resolution of adverse events, and shared decision-making. She is the medical director of experience of care at Primary Children’s Hospital in Salt Lake City, Utah.

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Additional Resources

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

• Females & Fragile X Syndrome
• Fragile X Syndrome Testing & Diagnosis | Fragile X 101
• Fragile X Syndrome Medications Guide for Children and Adults
• School, Education and Fragile X Syndrome
• Reproductive Health | Webinar (fragilex.org)
• Treatment and Intervention Recommendations for Fragile X