Rutgers researchers have linked the genetic disorders Fragile X and SHANK3 deletion syndrome – both linked to autism and health problems – to walking patterns by examining the microscopic movements of those wearing motion-sensored sneakers.
MEDIA ADVISORY – FOR IMMEDIATE RELEASE Published March 5, 2021 in Science Advances Mount Sinai Researchers find a new way to prevent attention deficits associated with Fragile X, a leading genetic cause of autism, in an animal model. Corresponding Author: Hirofumi…
The UC Davis MIND Institute and the National Fragile X Foundation have launched an international registry of people carrying the fragile X premutation. The goal is to facilitate and encourage research about the genetic condition to improve understanding and treatment.
Results from phase two study show improved language and daily functioning among participants
UC Davis MIND Institute researchers found an unexpected spectrum of mental illnesses in patients with a rare gene mutation. These patients had a “double hit” condition that combined features and symptoms of fragile X syndrome and premutation disorder, in addition to a range of psychiatric symptoms. The findings revealed the need for clinicians to consider the complexities of the co-existing conditions of patients with both psychological and fragile X associated disorders.
Expressive language sampling yielded five language-related outcome measures that may be useful for treatment studies in intellectual disabilities, especially fragile X syndrome. The measures were generally valid and reliable across the range of ages, IQs and autism symptom severity of participants. According to the study, led by UC Davis researchers and funded by NIH, the measures are also functional in supporting treatments that can improve language, providing far reaching benefits for individuals with intellectual disabilities.
Cognitive processing in people with intellectual disability can now be accurately assessed thanks to UC Davis Health researchers who updated and validated series of tests, part of the NIH Toolbox Cognitive Battery.
Researchers found that repeats in the gene that causes Fragile X Syndrome normally regulate how and when proteins are made in neurons.
Fragile X syndrome is a debilitating genetic neurodevelopmental disorder that affects people worldwide, but many doctors don’t know anything about it, let alone have the resources to properly diagnose or treat it.
Doctors and scientists — experts in the rare and severely disabling fragile X syndrome — had arrived from the United States, including six from the UC Davis MIND Institute. They came to offer the families useful information and maybe open doors to desperately needed help in a region of the world that, until fairly recently, hardly recognized fragile X syndrome, let alone knew how to diagnose or treat it.