Marisa Wexler, MS,  senior science writer—

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…

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…

Treatment for irritability, aggression, agitation and self-injury (IAAS) behaviors in people with fragile X syndrome most often includes antipsychotics, a new has study found. The research, “Pharmacologic Interventions for Irritability, Aggression, Agitation and Self‑Injurious Behavior in Fragile X Syndrome: An Initial Cross‑Sectional Analysis,” was published in the …

An upcoming clinical trial will examine if a diabetes medicine has behavioral and cognitive effects on children and young adults with fragile X syndrome. Treating the symptoms of fragile X usually relies on non-pharmacological interventions, like speech and occupational therapy. As of now, no medications have proven effective in treating…

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, “…