What Is Fragile X Syndrome?
Oct 23, · 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. 43 rows · May 12, · Fragile X syndrome is a genetic condition involving changes in part of .
Find lt 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.
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1 day ago · Fragile X syndrome is a genetic condition associated with cognitive impairment, learning and behavioral challenges, and several physical features. It is the most common cause of inherited intellectual disability and autism spectrum disorders (ASDs) and it is estimated to affect 1 in 4, males and 1 in 8, females. Fragile X syndrome is a genetic disorder that occurs when a single gene on the X chromosome shuts down. This gene makes a protein needed for normal brain development. In FXS it does not work properly, the protein is not made, and the brain does not develop as it should. FXS can affect both sexes. Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of .
Fragile X syndrome FXS is a genetic disorder. FXS is caused by changes in a gene that scientists called the fragile X mental retardation 1 FMR1 gene when it was first discovered. FMRP is needed for normal brain development. People who have FXS do not make this protein.
People who have other fragile X-associated disorders have changes in their FMR1 gene but usually make some of the protein.
FXS affects both males and females. However, females often have milder symptoms than males. The exact number of people who have FXS is unknown, but a review of research studies estimated that about 1 in 7, males about 1 in 11, females have been diagnosed with FXS.
Males who have FXS usually have some degree of intellectual disability that can range from mild to severe. Females with FXS can have normal intelligence or some degree of intellectual disability.
A doctor or genetic counselor can order the test. Testing also can be done to find changes in the FMR1 gene that can lead to fragile X-associated disorders. This allows the family and other caregivers to learn more about the disorder and manage care so that the child can reach his or her full potential.
However, the results of DNA tests can affect other family members and raise many issues. So, anyone who is thinking about FXS testing should consider having genetic counseling prior to getting tested. There is no cure for FXS. However, treatment services can help people learn important skills.
Services can include therapy to learn to talk, walk, and interact with others. In addition, medicine can be used to help control some issues, such as behavior problems. To develop the best treatment plan, people with FXS, parents, and health care providers should work closely with one another, and with everyone involved in treatment and support—which may include teachers, childcare providers, coaches, therapists, and other family members.
Taking advantage of all the resources available will help guide success. Early intervention services help children from birth to 3 years old 36 months learn important skills.
Even if the child has not been diagnosed with FXS, they may be eligible for services. These services are provided through an early intervention system in each state. Through this system, you can ask for an evaluation. In addition, treatment for particular symptoms, such as speech therapy for language delays, often does not need to wait for a formal diagnosis. While early intervention is extremely important, treatment services at any age can be helpful. Learn more about early intervention » external icon.
Local public school systems can provide services and support for children age 3 years and older. Children can access some services even if they do not attend public school.
States have created parent centers. These centers help families learn how and where to have their children evaluated and how to find services. Having support and community resources can help increase confidence in managing FXS, enhance quality of life, and assist in meeting the needs of all family members. It might be helpful for parents of children with FXS to talk with one another.
One parent might have learned how to address some of the same concerns another parent has. Often, parents of children with special needs can give advice about good resources for these children.
CDC is working to learn more about the natural history of fragile X so that better approaches to intervention can be developed. The ORDR website provides information about National Institutes of Health-sponsored biomedical research, scientific conferences, and rare and genetic diseases.
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Signs and Symptoms Signs that a child might have FXS include: Developmental delays not sitting, walking, or talking at the same time as other children the same age ; Learning disabilities trouble learning new skills ; and Social and behavior problems such as not making eye contact, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking, and being very active.