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About Fragile X Syndrome. Fragile X syndrome is a genetic disorder that affects a person’s development, especially that person’s behavior and ability to learn. In addition, Fragile X can affect: Communication skills. Physical appearance. Sensitivity to noise, light, or other sensory information. Fragile X syndrome is the most common form of ...
Aug 5, 2021 · The genetic disorder Fragile X syndrome, which results from mutations in a gene on the X chromosome, is the most commonly inherited form of developmental and intellectual disability. Fragile X Syndrome | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development
Apr 25, 2022 · Fragile X results from a change or mutation in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, which is found on the X chromosome. The gene normally makes a protein, called FMRP, that is important for creating and maintaining connections between cells in the brain and nervous system.
Aug 5, 2021 · Fragile X syndrome is the most common form of inherited intellectual and developmental disability (IDD). People with Fragile X syndrome may not have noticeable symptoms, or they can have more serious symptoms that range from learning disabilities to cognitive and behavior problems.
Aug 5, 2021 · There is no single treatment for Fragile X syndrome, but there are treatments that help minimize the symptoms of the condition. Individuals with Fragile X who receive appropriate education, therapy services, and medications have the best chance of using all of their individual capabilities and skills.
Aug 5, 2021 · Some children with Fragile X begin talking later than typically developing children. Most will talk eventually, but a few might stay nonverbal throughout their lives. Sensory. Many children with Fragile X are bothered by certain sensations, such as bright light, loud noises, or the way certain clothing feels on their bodies.
Recent research supported by NICHD has demonstrated how the protein missing in Fragile X syndrome acts as a molecular "toggle switch" in brain cells. 7 In Fragile X syndrome, a genetic mutation removes the FMRP from cells, interfering with protein production and signaling at the synapses (the junctions between brain cells where chemical communication occurs). This leads to structural changes and an impairment of the cells' ability to respond to chemical signals, interfering with learning and ...
Apr 25, 2022 · FXTAS is a late-onset condition (occurs in people older than age 50) that develops in some men and women with an altered form of the Fragile X gene. Those with FXTAS do not have the intellectual or developmental disabilities common in Fragile X syndrome.
Apr 25, 2022 · People with a full mutation often have Fragile X syndrome. The number of repeats, also called the “size of the mutation,” affects the type of symptoms and how serious the symptoms of Fragile X syndrome will be. Inheriting Fragile X Syndrome. Fragile X syndrome is inherited, which means it is passed down from parents to children.
FXTAS is a late-onset condition (occurs in people older than age 50) that develops in some men and women with an altered form of the Fragile X gene. Those with FXTAS do not have the intellectual or developmental disabilities common in Fragile X syndrome. NICHD-supported researchers were the first to identify FXTAS and link it to changes in the ...
