Steve Bryson, PhD, science writer —

How the brain processes sound varies across three neuropsychiatric feature-based subgroups of women who carry so-called premutations in FMR1, the gene associated with fragile X syndrome, a pilot study showed. “Our findings suggest a spectrum of sensory processing characteristics present in subgroups of premutation carriers that have been previously understudied…

A deficiency in the FMRP protein, the underlying cause of fragile X syndrome (FXS), may affect the system within nerve cells that breaks down unwanted proteins, a mouse study suggests. Data showed that FMRP, its related protein FXR1, and DLG4 gene’s messenger RNA (mRNA) are involved in this protein…

The NIH Toolbox Cognition Battery (NIHTB-CB) test accurately detects developmental changes in cognitive function among young people with intellectual disabilities, including those with fragile X syndrome, a study reports. Matching, or even exceeding, the changes detected in a standard IQ test over two years, the NIHTB-CB is a…

An enzyme called matrix metalloproteinase 9 (MMP-9) is found at higher levels in the blood of people with fragile X syndrome than healthy people and may correlate with more aberrant behavior and anxiety-related symptoms, a study reported. Researchers determined total levels of MMP-9 and of its active form, but…

The International Fragile X Premutation Registry (IFXPR) — now enrolling — aims to accelerate research to better understand the impact on health of premutations in the gene associated with fragile X syndrome. One goal of the IFXPR, launched in the U.S. in 2020 and since going global,…

A combination of approved medicines — lovastatin and minocycline — significantly improved several behavioral characteristics in adults with fragile X syndrome, according to caregivers who participated in a Phase 2 clinical trial. The researchers said they believed this was the first trial to assess the safety and effectiveness of…

Boys, ages 2 to 6, with fragile X syndrome who have trouble talking can join the BRIDGE study to help researchers learn how brain development affects language growth. The study is being led by Carol Wilkinson, MD, PhD, at the Boston Children’s Hospital Labs of Cognitive Neuroscience in Massachusetts,…

A survey of women with fragile X syndrome revealed that most identified with a label other than that of the chromosomal disorder, and that the majority either did not want to have a child with the genetic disease or were conflicted. Despite most respondents reporting some learning disabilities, the…

Gene therapy rescued several behavioral and brainwave abnormalities seen in a rat model of fragile X syndrome. Findings from the study support further development of gene therapy for treating people people with the condition, the scientists said. The study, “Gene Therapy Using an Orthologue of Human…

Abnormal protein production associated with fragile X syndrome was coupled with altered cell growth that favored fast-growing cell types over those that become nerve cells during early development, a study has shown.  Blocking a signaling pathway known as PI3K corrected both excess protein production and…