News

A single-step genetic test that quantifies a specific mark in the FMR1 gene may help diagnose cases of fragile X syndrome that are not identified by current approaches, a new study reports. Titled “Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for…

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…

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…

Reduced levels of perineuronal nets — net-like structures around nerve cells and involved in memory consolidation — in the brain’s fear-learning circuit may be associated with learning deficits and impaired fear responses in fragile X syndrome (FXS), according to a mouse study. The findings suggest that therapeutic approaches designed…

Children with both fragile X syndrome and autism spectrum disorder (ASD) start showing greater motor impairments as early as 18 months of age when compared with those with fragile X but not ASD, a study finds. These findings suggest that differing…

Medical teams that provide on-site genetic counseling and new screening tools to outpatient clinics — to identify genetic causes of autism spectrum disorder such as fragile X syndrome — significantly improve diagnostic rates, a new study reports. The study, “Impact of…

Boys with fragile X syndrome (FXS) who experience negative emotions such as anger and fear up to preschool age are more prone to develop anxiety, a new study suggests. The study, “Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism,” was published…

Derivatives of an Alzheimer’s disease precursor may be valuable biomarkers of disease activity in fragile X syndrome, according to a recent study. The results of the study, “Peripheral Amyloid Precursor Protein Derivative Expression in Fragile X Syndrome,” were published in Frontiers in Integrative Neuroscience. Fragile…

A single early-life seizure results in behaviors resembling fragile X syndrome (FXS) later in life, but does not exacerbate these behaviors in a fragile X mouse model, a preclinical study has found. The study, “A single early-life seizure results in long-term behavioral changes in the adult Fmr1…

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…