Ana Pena, PhD,  —

A small RNA molecule detectable in urine, called miR-125a, may provide a new biomarker for fragile X syndrome that could be used to group patients based on individual differences in brain pathways, an early study suggests. The study, “Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile…

A ketogenic diet, rich in fats and low in carbohydrates (sugars), was able to reduce the frequency of seizures in a mouse model of fragile X syndrome, a study reports. The diet also decreased daytime activity, with varying effects on body weight depending on the sex and…

A group of proteins linked with nerve cell defects could represent promising treatment targets for people with fragile X tremor-ataxia syndrome (FXTAS), a study in mice suggested. The study, “Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS,” was published in the journal…

Precision grip tests could help doctors to identify and monitor fragile X-associated tremor-ataxia syndrome (FXTAS), a common condition in families affected by fragile X syndrome, a study reports. Subtle alterations in motor abilities are seen as a normal part of aging, but some changes like hand tremors may be…

Supplementation with taurine — a natural amino acid that plays an important role in the brain, heart, and muscles — can partially correct the production of two proteins found deranged in the testes of mice with fragile X syndrome (FXS), a study suggests.

Researchers adapted two scales commonly used to screen for autism spectrum disorder (ASD) — the social communication questionnaire (SCQ) and the social responsiveness scale (SRS-2) — with the aim of better diagnosing autism in people with fragile X syndrome (FXS). These adaptations improved the sensitivity and specificity…

Young children with fragile X syndrome have trouble fixing their attention in a visual clue compared to typically developing children, a study has found. Researchers believe problems in a cognitive skill known as visual orienting are caused by deficits in the parietal function of the brain, which mediates visual…

Zynerba‘s Zygel (ZYN002), a cannabidiol gel placed on the skin, was well-tolerated and led to a “clinically meaningful” easing of anxiety and other behavioral symptoms in children and teenagers with fragile X syndrome, according to results of a clinical trial in Australia. The findings, “A phase…

Women who carry premutations in the FMR1 gene have poorer language-related abilities, similar to those found among parents of individuals with autism spectrum disorder (ASD), a fragile X syndrome-related condition, a study has found. The study, “Language processing skills linked to FMR1 variation: A study of gaze-language coordination…

A mindfulness program run on a free mobile app may be a feasible way of easing stress in mothers of children with fragile X syndrome (FXS), especially the many who carry the disease-causing mutation passed on to their child, a study reports.