Joana Carvalho, PhD,  managing science editor—

Restoring activity to the FMR1 gene — which is silenced in fragile X— using modulators that work to “turn on” gene expression and allow protein production to begin again is feasible in cells of the central nervous system, a study in mice reports. The study, “FMR1 Reactivating Treatments…

Long noncoding RNAs (lncRNAs) — long RNA molecules that do not provide instructions to make proteins and are thought to be involved in gene regulation — may become a new target for diagnosing and treating patients with fragile X spectrum disorders, according to a recent review. The review study, “…

Fragile X-associated tremor/ataxia syndrome (FXTAS) should be considered in the diagnosis of patients with essential tremor who show signs of cerebellar involvement and/or drug-induced movement disorders (extrapyramidal signs), according to a study. The study, “Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with…

Self-injurious and aggressive behaviors are highly prevalent and persistent among males with fragile X syndrome (FXS), a study found. These results may have implications for early intervention strategies for those most at risk, with an aim toward preventing these behaviors from emerging, and reducing the likelihood of them persisting.

Young adults with fragile X syndrome (FXS) and their parents have identified several areas of major concern, including those related to physical, psychological, social, and financial issues, in a qualitative study. The study, “Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their…

Women with fragile X syndrome surpass men in their decisional capacity for informed consent about participation in clinical trials, a study says. The findings of the study, “Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome,” were published in the Journal of Autism and…

New understanding of the genetic mechanisms involved in female inheritance and X chromosome silencing may help shed light on disorders arising from defects in the X chromosome, including fragile X syndrome and Rett syndrome, a study reports. Findings of the study, “Developmental Xist induction is mediated by…

Using eye-tracking technologies, researchers have shown that patients with fragile X syndrome avoid direct eye contact and show signs of social deficits linked to social anxiety. But they do so without the prominent reduction in social interest associated with autism spectrum disorder. The study, “Differentiating social preference and social anxiety…

The frequency and severity of symptoms associated with fragile X spectrum disorders in the rural town of Ricaurte in Colombia are much higher compared to those of the general population, a study has found. Researchers believe such differences may be because of higher exposure to toxic pesticides. The study, “…

The production of several large proteins from stored messenger RNAs (mRNAs) — molecules that contain instructions to make proteins — is defective in fragile X syndrome and most likely other autism spectrum disorders as well, according to a fruit fly study. The study, “Fragile X mental retardation 1…