The NFXF Blog
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stands for fragile X messenger ribonucleoprotein 1, removing the reference to “mental retardation” which has long been outdated in common vernacular.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.
The ABLE Employment Flexibility Act
The ABLE Employment Flexibility Act (H.R. 4672) permits employers to contribute to an employee’s ABLE account instead of a 401(k) – including an employer’s match. By saving it in the ABLE account it will not adversely affect most means-tested federal benefits.
Longitudinal Trajectory of Seizures in Fragile X Syndrome
FORWARD // This study adds to the understanding of the characteristics, risk factors, and course of seizures in FXS and provides a basis for anticipatory guidance for clinicians and families.
Mosaicism in Males with Fragile X Syndrome
FORWARD // Participants with methylation mosaicism tended to have less severe intellectual disability and better social and functional skills. Knowing more about how FXS differs in people with and without methylation mosaicism may eventually help guide expectations and treatment of individuals with FXS.
Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome
FORWARD // This study contributes to the limited understanding of psychopharmacologic management of IAAS in FXS and will help guide future treatment.
Optimal Time Lags From Causal Prediction Model Help Stratify and Forecast Nervous System Pathology
Being able to identify and diagnose possible nervous system disorders by detecting gait problems 15 to 20 years before their clinical diagnosis could help advance treatment development and quality of life.
Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in FXTAS
This system could potentially predict FXTAS onset in premutation carriers who are not showing signs of FXTAS on a neurological exam.