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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),…
Eye-tracking technology has identified atypical visual attention patterns in women who carry the FMR1 premutation, a condition related to fragile X syndrome, that occurs later in life, a study reported. These findings imply that visual attention patterns…
Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…
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