The NFXF Blog
Study: Aging in Toolbox
Researchers around the country are conducting a study to better understand cognitive profiles in adults with intellectual disability. This study is an extension of the ongoing Toolbox Study, which is aimed to optimize cognitive assessment tools for children and young adults with intellectual disabilities.
Validation of Fragile X-Associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS)
Rush University is conducting a research study to validate a rating scale created to assess the motor symptoms of people with FXTAS – the “Fragile X-Associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS)”
Study: Connection between Cognition and Genetic Factors in Adults with FXS
Drs. Craig Erickson and Lauren Schmitt at Cincinnati Children’s Hospital are conducting a series of research studies to learn about the brain and cognition and how they are connected with genetic factors related to FXS.
Growing Awareness of Fragile X-Associated Conditions
On May 5, 2022, The Wall Street Journal Weekend Edition showcased an article called “The Surprising Legacy of a Genetic Disorder” by Dr. Anne Skomorowsky. The essay summarizes the history of Fragile X and [...]
Advancing Our Understanding and Future Treatment of FXTAS — Webinar
Experts Deborah Hall, Maureen Leehey, Peter Todd, and Nancy Hertzig discuss the latest in FXTAS research and treatment.
Study: UNC Brain Development Research Study of Infants with Fragile X Syndrome
UNC Chapel Hill is conducting a research study to learn about the early brain and behavioral development of infants with FXS to aid in the future development of better supports and treatments.
The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations
Thanks to The European Fragile X Network, FMR1 now stands for fragile X messenger ribonucleoprotein 1, removing the reference to “mental retardation” which has long been outdated in common vernacular.
2022 Medications Update — Webinar
Jayne Dixon Weber and Dr. Craig Erickson discuss new medications and review existing medications used for various issues related to Fragile X syndrome.
An Xtraordinary Employee: Corey Gershenson
Corey Gershenson lives with Fragile X syndrome. Thanks to his determination — and employers willing to embrace employees with disabilities — he also works two jobs and volunteers at Mercy Hospital in St. Louis.
Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome
FORWARD // We examined the nature and degree of association between health-related quality of life and established measures of functioning in FXS; 155 parents completed the questionnaires on their child as part of the larger CDC-funded FORWARD study.
Height and Body Mass Index in Fragile X Syndrome: A Longitudinal Assessment
FORWARD // These findings warrant increased attention to obesity prevention for all individuals with FXS.
BRIDGE Study: Brain Indicators of Development Growth
A longitudinal research study from The Wilkinson Lab at the Boston Children’s Hospital Labs of Cognitive Neuroscience to learn about how differences in brain activity affect learning, language, and behavior in Fragile X Syndrome.