The NFXF Blog
Survey: Share Your Experience With Telehealth and Services During COVID
Parents or caregivers of individuals with Fragile X syndrome who has received services via telehealth during the COVID-19 pandemic may be eligible to participate.
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.
Webinar: Adults in Fragile X Syndrome
Dr. Elizabeth Berry-Kravis discusses the value of the FORWARD database for understanding problems that face adults living with Fragile X syndrome. We also talk about how families of adults can contribute to FORWARD and our understanding of adults with FXS by doing a research-only remote visits with a FORWARD clinic to increase the data pool for adults with FXS in FORWARD.
Study: Focus Group on Difficulty with Changes and Rigid/Inflexible Behaviors in Fragile X Syndrome
Individuals with FXS who are 18 years or older and able to talk fluently about own experiences, and their caregivers and providers may be eligible to participate. Eligible providers include teachers, psychologists, social workers, and physicians.
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).
Study: Adult Fragile X Premutation Carriers Needed for Registry
NFXF has partnered with an advisory committee of international fragile X professionals to create an international fragile X premutation research registry. Find out how to participate.
The Launch of the International Fragile X Premutation Registry
Now you can explore the International Fragile X Premutation Registry page on the NFXF website. You will find information about the Registry, a Frequently Asked Question section, the pictures and biographies of the Advisory Committee, and the “Enroll Now” button. The “Enroll Now” button will take you to the HIPPA-compliant REDCap database where your information will be stored.
Help Expand Telehealth Options
The TREAT Act works to resolve this. The Temporary Reciprocity to Ensure Access to Treatment (TREAT) Act was introduced in the Senate by Senators Roy Blunt (R-MO) and Chris Murphy (D-CT). The legislation provides temporary licensing reciprocity for health care professionals in good standing during COVID-19 and future national emergencies.