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Name of disorder and any nicknames (Ex: Trisomy 21 aka Down’s Syndrome)

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Name of disorder and any nicknames (Ex: Trisomy 21 aka Down’s Syndrome)

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Disorder: fragile X syndrome
Nicknames: Martin-Bell syndrome

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What causes the disorder and what gene or chromosome is affected?

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What causes the disorder and what gene or chromosome is affected?

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FXS is caused by changes in a gene which is called Fragile X Messenger Ribonucleoprotein 1 (FMR1) meaning that a person with FXS has not produced a protein that is needed for brain development.

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Are there prenatal tests for this disorder? If so, how are they tested?

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Are there prenatal tests for this disorder? If so, how are they tested?

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Prenatal testing can be performed by amniocentesis at 16 to 20 weeks or by chorionic villus sampling (CVS) at 10 to 13 weeks to determine if a fetus have inherited the fragile x gene. These testings are performed by testing the mothers DNA from a blood test.

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How does a person get this disorder? (Mutation or inherited?)

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How does a person get this disorder? (Mutation or inherited?)

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FXS can be passed down from parents to children through genes.

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FXS is diagnosed by testing a persons DNA from a blood test.

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Which population is affected? (males, females, certain ethnicities, etc?)

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Which population is affected? (males, females, certain ethnicities, etc?)

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FXS is more prevalent in men than women but can effect both. In men it is prevalent 1 in 4,000/ 7,000 men, and in women it is prevalent in 1 in 6,000/ 11,000 women.

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What are the symptoms or effects on the individual with this disorder? Be specific and detailed.

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What are the symptoms or effects on the individual with this disorder? Be specific and detailed.

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A persons behavior can change when they have FXS. They can get aggressive, hyperactive, impulsive, repetitive movements and words, delay in talking. They can have flaccid muscles and problems with coordination. As well as shaky hands and balance problems.

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There are no cures for FXS. But treatments can be therapy to improve walking, speaking, etc, skills. Medication can also be used to help with behavior problems as well as some others on a case-by-case basis.

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What is the long-term outlook for an individual with this disorder?

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What is the long-term outlook for an individual with this disorder?

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Most likely individuals with FXS will have to have caregivers whether that's with a family member or a trained professional to help them though their everyday lives.

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What is the current status of research on this disorder?

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What is the current status of research on this disorder?

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Currently, the research being done for FXS includes gene therapy/ protein replacement. They are going to continue to invest in technologies that could lead to a cure. Other research being done is targeted translation research which is showing promise in treating FXS. They are also doing clinical trials to accelerate the development of the drugs being tested, which also shows lots of promise.

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Information on support groups (if available)

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Information on support groups (if available)

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There are many support groups for people with or family/ friends of people with FXS. Some include National Fragile X Foundation, FRAXA Research Foundation, The Mighty, etc. There are also groups on FaceBook.

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https://www.cdc.gov/ncbddd/fxs/facts.html

https://www.genomemedical.com/genetic-testing-pregnancy/fragile-x-carrier-pregnancy/

https://fragilex.org/understanding-fragile-x/fragile-x-101/prevalence/

https://www.mdpi.com/2073-4425/13/9/1654

https://www.fraxa.org/fragile-x-research/

https://ourfragilexworld.org/resources-for-families

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Centers for Disease Control and Prevention

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Testing/Diagnosis

FXS can be diagnosed by testing a person's DNA from a blood test. 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.

A diagnosis of FXS can be helpful to the family because it can provide a reason for a child's intellectual disabilities and behavior problems. 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.

Uncover the Facts: Fragile X Myth Busters for families and health professionals.

Treatments

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

Early intervention services help children from birth to 3 years old (36 months) learn important skills. These services may improve a child's development. 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 "
What to do if you think your child might have FXS

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. When parents are concerned about a child's development, it can be very challenging for them to figure out the right steps to take. States have created parent centers. These centers help families learn how and where to have their children evaluated and how to find services. For information about services in your state, you can access your state's parent center.

Finding Support

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.

Remember that the choices of one family might not be best for another family, so it's important that parents understand all options and discuss them with their child's health care providers.

CDC's Work on Fragile X Syndrome

CDC is working to learn more about the natural history of fragile X so that better approaches to intervention can be developed.

As part of this effort, CDC:

Supported the National Fragile X Foundation to develop the Fragile X Online Registry With Accessible Research Database (FORWARD). The purpose of FORWARD is to learn more about

Other conditions that commonly occur along with FXS,

The impact on the day-to-day lives of individuals living with FXS and their families,

Short-term and long-term outcomes, and

What type of interventions and support are most effective for different individuals and their families.

Collaborated with the American Academy of Pediatrics to develop and distribute educational materials to healthcare professionals and families. These materials are designed to raise awareness of FXS and encourage early diagnosis so that people with FXS can receive appropriate care and services.

Is working to learn more about how children with FXS develop compared to children with other conditions including ASD or developmental disability, and to learn more about children with FXS who also have other diagnosed conditions.

Other Resources

Fragile X Online Registry With Accessible Research Database (FORWARD)
Funded by CDC, FORWARD is the largest source of data on people with fragile X syndrome and their families.

FRAXA Research Foundation
FRAXA's mission is to accelerate progress toward effective treatments and ultimately a cure for fragile X by directly funding the most promising research. FRAXA also supports families affected by fragile X.

National Institutes of Health, Office of Rare Diseases Research, Genetic and Rare Diseases Information Center
The Office of Rare Diseases Research (ORDR) answers questions about rare diseases for patients, families, healthcare providers, researchers, students and educators. The ORDR website provides information about National Institutes of Health-sponsored biomedical research, scientific conferences, and rare and genetic diseases.

References

Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A. 2014 Jul 164A(7): 1648-58.

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Facts, causes, signs, diagnosis, and treatments. about Fragile X syndrome (FXS).