This system could potentially predict FXTAS onset in premutation carriers who are not showing signs of FXTAS on a neurological exam.
While there is promise for future treatments, utilizing this iPSC brain organoid model for future treatment development could prove to be successful.
This study shines a light on the need for better long-term support and care planning for individuals with Fragile X syndrome.
Raising knowledge and awareness of Fragile X syndrome to medical professionals leads to direct benefits for families and individuals.
The aim of this study was to determine parents’ main priorities for clinical trials, at a time when the clinical trial opportunities are on the rise.
This study is important for later-diagnosed individuals as it creates successful predictive models that can identify cases five years earlier than clinical diagnosis.
Data from 8 unique studies speaks to the necessity of early identification of FXS, which leads to earlier, effective medical and non-medical interventions.
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.
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.
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.
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.
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.
