Adolescent autistic boys who also have fragile X syndrome converse differently when it comes to certain aspects of language than autistic boys without the disease, a study suggests. This study, which examined demonstrative and personal pronoun use, adds to the knowledge of language issues in these adolescent populations…
Using eye-tracking technologies, researchers have shown that patients with fragile X syndrome avoid direct eye contact and show signs of social deficits linked to social anxiety. But they do so without the prominent reduction in social interest associated with autism spectrum disorder. The study, “Differentiating social preference and social anxiety…
Anxiety, learning difficulties, and behavior problems are the main areas of concern in patients with fragile X syndrome (FXS), according to a survey that included patients, family members or caregivers, and healthcare professionals. Survey results, which also showed that anxiety is viewed as the top treatment priority, were reported in…
Adolescents and adults diagnosed with fragile X syndrome (FXS) showed improvement in social gaze behavior — measured by their ability to maintain visual contact and the eye’s pupil reactivity — when treated with Novartis’ mavoglurant. The study, “Effects of mavoglurant on visual attention and pupil reactivity while…
Inhibiting the HDAC6 enzyme with an experimental agent called SW-100 improved memory and lowered learning impairments in a mouse model of fragile X syndrome (FXS), a study has shown. The study, “Brain Penetrable Histone Deacetylase 6 Inhibitor SW-100 Ameliorates Memory and Learning Impairments in a Mouse Model…
Early Check, a free newborn screening program for fragile X syndrome (FXS) that recently began testing in North Carolina, will address the feasibility of implementing an expanded newborn screening for fragile X to other states. The program and the current practice for the early identification of…
A new collaboration between Tetra Discovery Partners and Shionogi & Co. is aimed at accelerating the development of an innovative treatment called BPN14770 for fragile X syndrome and other disorders in strategic Asian markets. Valued at up to $160 million, the deal is expected to enable clinical-stage…
Mutations in the FMR1 gene are associated with atypical temperament that can emerge as early as infancy, particularly among infants with fragile X syndrome, a study has shown. The study, “Infant Temperament in the FMR1 Premutation and Fragile X Syndrome,” was published in the Journal of…
Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…
One year of treatment with the cannabidiol gel ZYN002, being developed by Zynerba Pharmaceuticals, can provide sustained benefit to young patients with fragile X syndrome, data from a Phase 2 trial show. Twelve children and adolescents treated with ZYN002 gel absorbed through the skin once daily for 12 months experienced…
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