AI–Assisted Phenotype Discovery of Fragile X Syndrome in a Population-Based Sample
This study is important for later-diagnosed individuals as it creates successful predictive models that can identify cases five years earlier than clinical diagnosis.
Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation
Data from 8 unique studies speaks to the necessity of early identification of FXS, which leads to earlier, effective medical and non-medical interventions.
COVID-19 Check-In: Month 15 — Ready for Re-Entry?
Jayne offers advice to Fragile X families in transitioning back after post-COVID-lockdowns, from school, to housing, to work, and more.
Medications for Fragile X Syndrome
Dr. Craig Erickson answers listener questions on medications for Fragile X syndrome.
COVID-19 Vaccines and Fragile X and Dr. Erickson Answers Your Medication Questions
Two important videos from Dr. Craig Erickson who discusses COVID-19 vaccines for individuals living with Fragile X premutations and full mutations, plus a second video on medications and Fragile X.
The Fragile X Premutation Registry is Now International
When we first launched the registry in November 2020, we weren’t yet able to accept non-U.S. registrants. There’s a lot of regulations and standards to work through on a project like this, but now we are truly living up to our name!
Is the COVID-19 Vaccine Safe for Individuals with Fragile X?
Dr. Craig Erickson, director of the Cincinnati Fragile X Research and Treatment Center at the Cincinnati Children's Hospital, received his first dose of the COVID-19 vaccine tells us why it’s safe.
Cortical Gyrification and Its Relationships With Molecular Measures and Cognition in Children With the FMR1 Premutation
Jun Yi Wang and the study team out of the UC Davis MIND Institute are interested in learning more about the premutation carrier condition in relations to brain development and its impact on cognition. These mental processes impact the higher-level functions of the brain including language, learning new things, and making decisions.
Telehealth-Enabled Behavioral Treatment for Problem Behaviors in Boys With Fragile X Syndrome: A Randomized Controlled Trial
Dr. Hall and his team at Stanford University are learning about potential behavioral treatments for problem behaviors. Previous research suggests that problem behaviors, like aggression, self-injury, and property destruction, may occur at higher rates in individuals with FXS.
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
We know that FMRP is expressed throughout our body, including our blood, tissues, and brain. Levels of FMRP in the blood of patients with FXS have been positively correlated with cognitive performance, specifically intelligence quotient and adaptive behavior.
Fragile X Advocacy in 2021
Gregg Harper discusses NFXF advocacy successes from 2020, 2021 Advocacy Day, and more.
The good stuff from 2020 (no really there is some)
I like to talk about #pandemicPositive – there is plenty that has been hard(er) this year, but we have also seen lots of good. So, I polled my fellow staff members for some examples of the impact we all made this year through your support.
What Weʼve Learned from FORWARD About Aging in Fragile X Syndrome — Webinar
Dr. Elizabeth Berry-Kravis discusses the FORWARD database and its role in understanding problems that face adults living with Fragile X syndrome.
Allos Pharma Inc Announces the Exclusive License Rights on Arbaclofen in Fragile X Syndrome
Allos Pharma Inc, a late-stage pharmaceutical company developing therapeutics for neurodevelopmental disorders, has announced the exclusive license rights on arbaclofen in fragile X syndrome (FXS).
Clustering of Comorbid Conditions Among Women Who Carry an FMR1 Premutation
RESEARCH RESULTS ROUNDUP — The authors sought to clarify how often other health-related conditions, such as migraines and sleep problems, occur among women with a premutation.