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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.
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.
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
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.
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.
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
This study has the potential to distinguish specific behavioral, genetic, and neurobiological features that characterize infants with Fragile X syndrome as compared to infants at risk for autism without Fragile X syndrome and to those with typical development. 5. The Role of Maternal Autoimmune Disease in Fragile X Syndrome
People who have what's called a full mutation in the FMR1 gene (instead of the premutation) are likely to have Fragile X syndrome, the most common inherited form of intellectual and developmental disabilities (IDDs). People with the premutation usually do not have IDDs, but they may have some learning disabilities.
The majority of Fragile X research supported by NICHD is funded through the IDDB. The IDD Branch’s three Fragile X Syndrome Research Centers are geared toward stimulating multidisciplinary, multi-institutional research and translating basic research findings into clinical practice. NIH Fragile X Research Coordinating Group
Fragile X-Associated Tremor and Ataxia Syndrome (FXTAS) 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.