News

Implementing behavioral treatment via telehealth is a feasible and potentially cost-effective strategy for treating behavioral problems in boys with fragile X syndrome, a study shows. This strategy is able to circumvent the problem parents face when living in a rural area and cannot  drive long distances to reach the nearest…

Caregivers of younger children with fragile X syndrome (FXS), and those with lower family incomes, report more difficulties in accessing specialized healthcare in the U.S., a recent study found. Moreover, nearly 40% of the caregivers surveyed think their child’s doctor is…

Treatment with a compound found in green tea leaves significantly improved cognitive function in patients with fragile X syndrome, a study shows. This new clinical data came from a study of the epigallocatechin-3-gallate (EGCG) compound, a major component of green tea leaves. The study, “A phase 1, randomized…

Increased social avoidance during infancy and early childhood in boys with fragile X syndrome (FXS) is associated with higher risk of autism spectrum disorder (ASD) and lower risk of attention deficit/hyperactivity disorder (ADHD) and anxiety, according to a recent study. The study, “Infant Social Avoidance Predicts Autism but…

Pediatricians might not be aware of guidelines for genetic testing in children with global developmental delay (GDD), even though they often order such tests. This suggests the need for doctors to receive up-to-date training on genetic testing for GDD, especially as new tests are developed. The study with those findings, “…

Mavoglurant (AFQ056), a candidate for the treatment of fragile X syndrome (FXS), restored functionality in sensory networks but failed to do so in a cognition-related brain region in a mouse model of the disease, recent study shows. The research, “Inhibiting mGluR5 activity by AFQ056/Mavoglurant rescues circuit-specific functional…

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…

A combination of two chemical modulators of gene activity can stably reactivate the FMR1 gene, the gene that is “switched off” in those with fragile X syndrome, according to a study in human cells and mouse models of the disease. These results add to prior evidence that supports FMR1 reactivation…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

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…