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.
Gregg Harper discusses NFXF advocacy successes from 2020, 2021 Advocacy Day, and more.
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.
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, a late-stage pharmaceutical company developing therapeutics for neurodevelopmental disorders, has announced the exclusive license rights on arbaclofen in fragile X syndrome (FXS).
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.
RESEARCH RESULTS ROUNDUP — Investigation into how aging as a premutation carrier of the FMR1 gene may affect sensorimotor (exactly as it sounds, both sensory and motor) brain systems.
RESEARCH RESULTS ROUNDUP — Older mothers of children with Fragile X syndrome who have mid-range CGG repeats (~80–100) may be at increased risk for difficulties with inhibition.
As the option to do telehealth visits opened up over the past six months, we have gathered information to help you make the most of your online visit for your child with Fragile X syndrome, whether they are a young child or an adult.
Being the caretaker of someone with special needs, such as Fragile X syndrome, can be daunting. Isabel looks back at her journey, sharing advice and encouragement for new caregivers or those who have been doing it for years.
In 2019, Dr. Tabatadze and her colleagues ─ a small team of doctors ─ established the first local Fragile X laboratory in Georgia. They conducted a pilot study and tested 250 patients with autism spectrum disorder (ASD) and intellectual disabilities; the study yielded 11 positive results for Fragile X.
RESEARCH RESULTS ROUNDUP — Describe cognition and language in FXS using the data from a large group, while trying to understand if the standard assessments are feasible (able to be done accurately) and valid (reflect reality) in FXS and then compared the assessment results to caregiver report.
RESEARCH RESULTS ROUNDUP — What restricted and repetitive behaviors looked like in 154 individuals with FXS, 2–50 years old, based on age, ASD diagnosis, and IQ score.
RESEARCH RESULTS ROUNDUP — The psychopharmacologic management of irritability, agitation, aggression, and self-injurious behaviors and drug therapy treatment.
Research Summary // FORWARD data on 633 individuals with FXS filled the gap for much needed information on when children with FXS learn bladder and bowel toileting skills.
