Marisa Wexler, MS, senior science writer —

Top-line results from the CONNECT-FX trial testing the cannabidiol (CBD) gel Zygel as a potential treatment for behavioral symptoms in children and teenagers with fragile X syndrome are expected by late June. Should findings be positive, Zynerba Pharmaceuticals plans to request a meeting with the U.S. Food…

A procedure for measuring language skills, called expressive language sampling (ELS), could be used to assess treatment outcomes in people with fragile X syndrome and other conditions characterized by intellectual disability, a new study suggests. The study, “Expressive language sampling as a source of outcome measures for…

Using a genetic technique called triplet-primed polymerase chain reaction (TP-PCR) could enable practical and inexpensive diagnosis of fragile X syndrome, a study suggests. The study, “Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals,”…

The U.S. Food and Drug Administration (FDA) has authorized the marketing of Asuragen‘s AmplideX Fragile X Dx and Carrier Screen Kit, a first genetic test to help diagnose fragile X syndrome and determine the likelihood of having a child with the condition. “This novel diagnostic provides doctors and their…

Repeats in the FMR1 gene — which cause fragile X syndrome — help to regulate the normal production of the FMRP protein in nerve cells, a new study shows. This finding has implications for understanding the biology of repeats in the genome, and could pave the way for new therapies for…

People with fragile X syndrome are more likely to develop infections, but are less susceptible to autoimmune disorders than the overall population, a new study found. Taken together, this suggests that the immune system is underactive in this patient population. The study, titled, “The phenotypical implications…

Sleep abnormalities are associated with limitations in vocabulary in very young children with developmental conditions including fragile X syndrome, a study reports. Although preliminary, the results suggest that strategies aimed at improving sleep in young children with developmental disorders might also help improve language skills. The study, “…

A new method can accurately quantify genetic variants called short tandem repeats (STRs) and may improve diagnosis of fragile X syndrome and other disorders, a study suggests. The method was described in the study, “Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing,”…

Challenging behavior such as hyperactivity and aggressiveness in children with fragile X syndrome have a negative impact on maternal mental health and on the relationship between mother and child, a new study suggests. The study, “Child Challenging Behavior Influences Maternal Mental Health and Relationship Quality Over…

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…