Alice Melão,  —

Similar to people with fragile X syndrome, those with autism spectrum disorder (ASD) have low blood levels of cholesterol compared to healthy individuals, a study suggests. The findings indicate that having ASD and low cholesterol levels increase the risks for intellectual disability and anxiety/depression. Although additional studies are still needed…

Treatment with metformin, a common diabetes medicine, can help to improve language skills and behavior in young children with fragile X syndrome, a review study of nine patients reports. Two clinical trials in children and adults with this syndrome are underway to better characterize metformin’s effects and safety, the…

Midbrain atrophy, commonly referred to as the hummingbird or penguin sign, can be a manifestation of fragile X-associated tremor/ataxia syndrome (FXTAS) and can mimic progressive supranuclear palsy, a case report suggests. The case was described in the study “Late-onset hummingbird sign in a woman with…

Social avoidance, a common behavior among boys with fragile X syndrome, emerges during infancy, increases in severity across childhood, and stabilizes through adolescence and early adulthood, a study finds. The complex profile of social avoidance in fragile X was explored by U.S. researchers in the study, “Social…

Parents of children with intellectual disability, in particular those affected by fragile X syndrome, may benefit from more information and dedicated support when considering the possibility of participating in clinical trials, a study shows. The study, “Fragile X syndrome clinical trials: exploring parental decision‐making,” was published in…

Inhibiting the HDAC6 enzyme with an experimental agent called SW-100 improved memory and lowered learning impairments in a mouse model of fragile X syndrome (FXS), a study has shown. The study, “Brain Penetrable Histone Deacetylase 6 Inhibitor SW-100 Ameliorates Memory and Learning Impairments in a Mouse Model…

Mutations in the FMR1 gene are associated with atypical temperament that can emerge as early as infancy, particularly among infants with fragile X syndrome, a study has shown. The study, “Infant Temperament in the FMR1 Premutation and Fragile X Syndrome,” was published in the Journal of…

One year of treatment with the cannabidiol gel ZYN002, being developed by Zynerba Pharmaceuticals, can provide sustained benefit to young patients with fragile X syndrome, data from a Phase 2 trial show. Twelve children and adolescents treated with ZYN002 gel absorbed through the skin once daily for 12 months experienced…

Autophagy, a natural process that acts as a “cleaning system” for cells, plays an important role in regulating the activity of brain cells and cognitive deficits associated with fragile X syndrome, a mouse study shows. These findings expand knowledge on the underlying mechanisms behind this rare genetic disease, and…

Human induced pluripotent stem cells, also known as iPSCs, are valuable tools for discovering new targets and treatment strategies for several diseases, including autism spectrum disorders, despite some limitations that still need to be overcome, according to a review study. In the study, “Induced pluripotent stem…