Fragile x syndrome facial

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Added: 22.01.2021
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Find information and resources for people with developmental and behavioral disabilities. Fragile X syndrome FXS is one of the most common causes of inherited intellectual disability. CDC is working to learn more about fragile X syndrome and fragile X-associated disorders to improve the health and well-being of people with these conditions. Researchers at CDC are working to better understand how this complex condition affects individuals and their families. Skip directly to site content Skip directly to page options Skip directly to A-Z link.
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Fragile X Syndrome

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Fragile X Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Inheritance

This protein is important for creating and maintaining connections between cells in the brain and nervous system. The mutation causes the body to make only a little bit or none of the protein, which often causes the symptoms of Fragile X. A few things affect how much FMRP the body can make:. COVID is an emerging, rapidly evolving situation. Some people have a smaller mutation a lower number of repeats in their FMR1 gene, while others have big mutations a large number of repeats in the gene.
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About Fragile X Syndrome

Background: Fragile X syndrome FXS is the leading inherited cause of autism spectrum disorder, but there remains debate regarding the clinical presentation of social deficits in FXS. The aim of this study was to compare individuals with FXS to typically developing controls TDC and individuals with idiopathic autism spectrum disorder ASD across two social eye tracking paradigms. Methods: Individuals with FXS and age- and gender-matched TDC and individuals with idiopathic ASD completed emotional face and social preference eye tracking tasks to evaluate gaze aversion and social interest, respectively. Participants completed a battery of cognitive testing and caregiver-reported measures for neurobehavioral characterization. Gaze aversive findings were found to correlate with measures of anxiety, social communication deficits, and behavioral problems.
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Metrics details. Fragile X Syndrome FXS is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting — men and — women. It is caused by an alteration of the FMR1 gene, which maps at the Xq The aim of this review was to gather the current clinical and molecular knowledge about FXS to provide clinicians with a tool to guide the initial assessment and follow-up of FXS and to offer to laboratory workers and researchers an update about the current diagnostic procedures. FXS is a well-known condition; however, most of the studies thus far have focused on neuropsychiatric features.
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