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Researchers adapted two scales commonly used to screen for autism spectrum disorder (ASD) — the social communication questionnaire (SCQ) and the social responsiveness scale (SRS-2) — with the aim of better diagnosing autism in people with fragile X syndrome (FXS). These adaptations improved the sensitivity and specificity…

Young children with fragile X syndrome have trouble fixing their attention in a visual clue compared to typically developing children, a study has found. Researchers believe problems in a cognitive skill known as visual orienting are caused by deficits in the parietal function of the brain, which mediates visual…

The proportion of young patients with fragile X syndrome who meet basic recommendations for preventive care varies depending on their health condition and demographics, according to a recent study. The study, “Preventive Care Services and Health Behaviors in Children with Fragile X Syndrome,” was published in the…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

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…

Zynerba‘s Zygel (ZYN002), a cannabidiol gel placed on the skin, was well-tolerated and led to a “clinically meaningful” easing of anxiety and other behavioral symptoms in children and teenagers with fragile X syndrome, according to results of a clinical trial in Australia. The findings, “A phase…

Women who carry premutations in the FMR1 gene have poorer language-related abilities, similar to those found among parents of individuals with autism spectrum disorder (ASD), a fragile X syndrome-related condition, a study has found. The study, “Language processing skills linked to FMR1 variation: A study of gaze-language coordination…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Lower levels of the FMRP protein in neural stem cells delay their conversion into neurons during brain development by disrupting the transport of RNA molecules, new research shows. Scientists say those decreased FMRP levels are likely linked to impaired learning and behavior in fragile X syndrome. These findings…