The NFXF Blog
The International Fragile X Premutation Registry: Building a Resource for Research and Clinical Trial Readiness
The first published publication from the International Fragile X Premutation Registry Advisory Committee. This International Fragile X Premutation Registry is an important first step and can serve as a useful tool for clinicians and researchers in the field.
The Brothers Who Bake D&J Doggie Delights
Meet David and Jason who together bake and sell dog treats. But that's not their only job: David works as a stocker at a grocery store and paints and exhibits his work at a local gallery. Jason works as a dishwasher and cart attendant and loves to swim.
Highlighting Xtraordinary Individuals
Meet Katie Hencak and what her mother told us about why she's so Xtraordinary. Also find out how to submit your own Xtraordinary individual, who can be someone who has Fragile X plus anyone who has made an impact on the life or lives of someone living with Fragile X.
Survey: Developing a Gold Standard for Tracking Adult Functional Outcomes in Developmental Disabilities (AFS Study)
University of Pittsburgh is conducting this research to develop the Adult Functioning Scale (AFS), a new survey being designed to capture outcomes in the areas of social functioning, employment, independence, and satisfaction for individuals with various developmental disorders.
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 [...]
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.
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.