Marisa Wexler, MS, senior science writer —

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, “…