fragile x syndrome

and autism spectrum disorders (ASD). Other neurologic findings include short-term memory loss, executive function deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower-limb proximal muscle weakness, and autonomic dysfunction. If a child is diagnosed with ASD and then diagnosed with FXS, he or she still has ASD, it is just that the cause of their ASD is known. A clinical trial is a study in which the participants are given the drug for a specific period of time and are carefully monitored for both positive and negative responses. If youre in the United States, you can contact the National Fragile X Foundation at for more information regarding specialized therapy and educational plans. Children who show signs of developmental delays or other outward symptoms of FXS, such as a large head circumference or subtle differences in facial features at a young age, may be tested for FXS.

fragile x syndrome

How is it inherited, and Can It Be Treated?
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics.
Fragile X syndrome (FXS) is a genetic disorder.
Symptoms often include mild to moderate intellectual disability.

Fragile X syndrome - Genetics Home Reference - NIH Fragile X Syndrome : Causes, Treatments, and More Fragile X Syndrome, national, fragile X, foundation Fragile X syndrome - Wikipedia

Vietnam syndrome, Apergers syndrome,

People with ASD are largely unaware of the function others serve in relation to themselves, hence they rarely seek social interaction. A small percentage of females who have the full mutation of the. The article FXS and ASD: Similar But Different highlights a well-attended panel discussion at the 13th International Fragile X Conference that addresses the topic: FXS and ASD: Clinical Insights into the Similarities and Differences for Diagnosis and Treatment. Moderator Vicki Sudhalter, PhD, led a distinguished panel of clinicians that included Tracy Stackhouse, MA/OTR, Sarah Scharfenaker, MA-CCC-SLP, Walter Kaufman, MD, and Richard Belser, PhD. Learn more about the gene associated with fragile X syndrome. The defect, or mutation, on the FMR1 gene prevents the gene from properly making a protein called the fragile X mental retardation 1 protein. The range of symptoms in ASD vary and are generally characterized by an impaired ability to communicate and interact socially with other people. Additional NIH Resources (2 links educational Resources (9 links patient Support and Advocacy Resources (4 links). The difficulties are usually not socially debilitating, and these individuals may still marry and have children. At base, most FXS behavioral issues are traceable to the twin challenges of managing anxiety and hyperarousal. Girls who have the full FMR1 mutation have mild intellectual disability. The core deficit in ASD is social interaction.

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