News

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…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…