NFXF Webinar Series

FXS in Females Webinar Series: Current Research & What’s Ahead

00 h 59 m

Hear directly from expert researchers as they share their findings and discuss what’s next for research on females with FXS.

About the Webinar

With Jessica Klusek, Lauren Jenner, Audra Sterling, and Marcae Robertson
Learn more about the presenters

Our expert panel — Jessica Klusek, PhD, CCC-SLP, Lauren Jenner, PhD, Audra Sterling, PhD, and Marcae Robertson, PhD candidate — shared their research findings and insights into how Fragile X syndrome (FXS) affects girls and women, the challenges they may face, and how future research can lead to better understanding, support, and care.

We still have much to learn about how FXS affects females specifically, the challenges they may face, and the support they need.

One key message is that females with FXS are still underrepresented in research. This means we know less about their experiences and needs. Girls and women with FXS can have a wide range of strengths and challenges, which may make their needs harder to recognize. Furthermore, some women may not receive an FXS diagnosis until adulthood. Researchers stressed that being affected differently does not mean being affected less. Other discussions include:

  • Anxiety in girls with FXS and the experiences of women with FXS in college, including challenges with school, friendships, self-advocacy, and navigating their environments.
  • Studies of mothers raising daughters with FXS, women who learned they had a full mutation later in life, and how FXS may affect learning, language, memory, attention, and mental health.

Researchers hope to improve how FXS is recognized and diagnosed in females and develop better support and treatments. They also want to learn more about how learning, memory, attention, and mental health change as girls grow into women. While much remains to be learned, growing interest in female-focused FXS research is an encouraging step forward. Families, researchers, and organizations like the NFXF and LivJoy Foundation all play an important role in advancing this work.

Additional Resources

About the Presenters

Jessica Klusek

Jessica Klusek

University of South Carolina
Associate Professor

Jessica Klusek, PhD, CCC-SLP, is an associate professor at the University of South Carolina. Dr. Klusek received her doctorate in speech and hearing sciences from the University of North Carolina at Chapel Hill. She followed her doctoral training with an NIH-funded postdoctoral fellowship in psychology at the University of South Carolina, where she completed interdisciplinary training in physiology, psychology, and genetics. Dr. Klusek is also a certified speech-language pathologist. Dr. Klusek also serves as an advisor in the NFXF’s Research Readiness Program.

Lauren Jenner headshot

Lauren Jenner

LivJoy Foundation
LivJoy Postdoctoral Fellow

Lauren Jenner completed her master’s at the University of Surrey, United Kingdom, under the supervision of Dr. Joanna Moss and Prof. Emily Farran. Her research focused on social cognition and autism in genetic syndromes, particularly among children and adolescents with Down syndrome and Prader-Willi syndrome.

After her master’s, Lauren continued her work with Dr. Moss as a research associate, contributing to a project on the social-emotional well-being of women with the Fragile X premutation. She also worked on an impact project that provides online training for education practitioners to support the distinct needs of children with genetic syndromes at school.

Lauren’s research interests are currently centered on raising awareness and understanding of autism and related conditions in populations with intellectual disabilities and genetic conditions. She advocates including these often marginalized and overlooked groups in research, promoting more accessible and sensitive methods (such as eye-tracking technology). Her overarching goal is to contribute to a broader understanding of neurodivergence that embraces and supports all people.

Audra Sterling

University of Wisconsin-Madison
Professor, Department of Communication Sciences and Disorders

Audra Sterling, PhD, is a professor in the Department of Communication Sciences and Disorders at the University of Wisconsin–Madison and a researcher at the Waisman Center in Madison, Wisconsin. She specializes in language and cognitive development in individuals with neurodevelopmental disabilities, with a particular focus on Fragile X syndrome (FXS), autism spectrum disorder, and Down syndrome.

Marcae Robertson headshot

Marcae Robertson

Doctoral Researcher

Marcae Robertson, PhD Candidate, is a doctoral researcher pursuing a PhD in Special Education. Her dissertation explores the lived experiences of women with Fragile X syndrome in postsecondary education, highlighting the supports, barriers, and experiences that shape their educational journeys. As a mother of two daughters with FXS, she also brings a personal connection to the Fragile X community and a strong interest in improving opportunities and support for individuals with FXS.