News

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…

Most caregivers claim that children with fragile X syndrome (FXS) show signs of social avoidance, unresponsiveness or lethargy and irritability, confirming the utility of a set of subscales traditionally used to evaluate the behavior of individuals living with the disease to assess core behavioral symptoms of FXS in…

Many behaviors are shared by people with fragile X syndrome (FXS), autism spectrum disorder (ASD), and 22q11.2 deletion syndrome (22qDS), and particularly common is high levels of anxiety, new research shows. Data from a clinical trial in FXS patients also suggest that an investigative cannabidiol gel might help to…

Scientists have discovered a signaling cascade in fruit flies that may be a promising therapeutic target for treating fragile X syndrome in humans. The study with that finding, “Wnd/DLK Is a Critical Target of FMRP Responsible for Neurodevelopmental and Behavior Defects in the Drosophila Model of Fragile X Syndrome,”…

The presence of AGG triplets in the FMR1 gene sequence may be linked to the number of CGG repeats — the genetic cause underlying fragile X syndrome — and the degree of consanguinity among individuals from the general population, according to a study. The results of the study, “The…