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Fathers or male caregivers of children with fragile X syndrome are invited to contribute to a U.K. film project exploring what it’s like to raise someone with learning or behavioral challenges. Olivia Hird, a documentary filmmaker for the nonprofit organization Nip in the Bud, is seeking cellphone videos…
Physical health is also affected by fragile X syndrome, with problems evident in the heart, digestive system, respiratory tract and even the teeth years before the cause of patients’ intellectual difficulties might be pinpointed, scientists report. Their study, “Artificial intelligence–assisted phenotype discovery of fragile X syndrome in…
As early as 12 months of age, children with fragile X syndrome (FXS) display signs of social anxiety, a study indicates. The study, “Early behavioral and physiological markers of social anxiety in infants with fragile X syndrome,” was published in the Journal of Neurodevelopmental Disorders. Anxiety disorders…
As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking. But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…
The cannabinoid receptor 2 (CB2) is essential for protecting against nerve damage-related pain and its emotional effects in a mouse model of fragile X syndrome, a study shows. In addition, changes in the levels of pain-related molecules in the spine and in the amygdala (a brain region involved in pain…
Fragile X syndrome, or its associated psychiatric disorders, may lead to catatonia — a condition characterized by abnormal movements and behaviors — and to psychosis, according to a case report. In this rare case, both conditions in a teenage boy were successfully managed with a combination of psychotropic medications. The study,…
Children ages 2 to 7 with fragile X syndrome are being recruited at Boston Children’s Hospital for a study that aims to identify clinical biomarkers for the genetic disorder, according to a press release. Travel stipends of up to $500 dollars are available, thanks to program donors, and…
An analysis of proteins in brain tissue from men with advanced fragile X-associated tremor/ataxia syndrome (FXTAS) found an overall decrease in the abundance of key proteins compared with samples from those without this disease, a study reported. These findings provide insight into mechanisms of FXTAS, and identified potential biomarkers…
The FRAXA Research Foundation has awarded a $90,000 research grant to Stanford University scientists to evaluate the effects of potential therapy combinations in fragile X syndrome. The project will be led by researchers Philippe Jacques Mourrain, PhD, Gordon Wang, PhD, and Rochelle Coulson, PhD. Fragile X syndrome is a…
Young children with fragile X syndrome can benefit in school when teachers, therapists, and other caregivers use coping techniques and educational strategies — some very simple — that are specially adapted for the students’ disorder. Katie Clapp, the president and co-founder of the Fragile X Research Association (FRAXA),…
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