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Fragile X Syndrome (FXS) is a genetic condition, affecting around 1 in 4000 males and 1 in 6000 females. It can cause a wide range of difficulties with learning, as well as social, language, attentional, emotional, and behavioural problems. Some may experience connective tissue issues such as difficulty breast-feeding, hypotonia, hyperflexibility, flat feet, recurrent ear infections and mitral valve prolapse. FXS is the most common inherited cause of learning disability. https://www.fragilex.org.uk/syndrome

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About Fragile X Syndrome

What is Fragile X Syndrome?

Fragile X Syndrome is a genetic condition and is the most common inherited cause of learning disabilities. It affects around 1 in 4000 boys and men, as well as 1 in 6000 girls and women.

Below you will find an introduction to fragile X. If you would like more detailed information about fragile X, including about specific issues like behaviour or educational needs, then you can download our publications. You can also get support and information from the Fragile X Society via our Families and Professionals Advisors.

How does Fragile X Syndrome affect people?

There are a wide range of characteristics associated with fragile X, but an individual person may only experience some of these. Learning disabilities occur in almost all boys with fragile X, to differing degrees. Some boys have severe learning disabilities, although this is rare. Girls usually have milder learning disabilities than boys, but this is not always the case. Some girls with Fragile X Syndrome may be clinically unaffected.

As well as learning disabilities, common behavioural features include short attention span, distractibility, impulsiveness, restlessness, over activity and sensory problems. Girls with or without learning disabilities may show concentration problems and social, emotional and communication difficulties related to extreme shyness and anxiety in social situations.

Many children and adults show autistic like features, including: avoiding eye contact, anxiety in social situations, insistence on familiar routines and hand flapping or hand biting. Although many people with fragile X relate well to others, anxiety in unfamiliar or unpredictable situations may cause them to act in this way. A substantial minority of individuals with fragile X will show greater problems relating to others and may receive a dual-diagnosis of autism. Speech and language are usually delayed with continuing speech and communication problems. Some children and adults develop epilepsy.

However, strengths associated with fragile X include good imitation skills, visual learning and long term memories. People are also often described as having likable personalities, being sensitive to others' emotions and as having a good sense of humour!

There are some physical features associated with fragile X, including a long narrow face with prominent jaw bones and ears. However, these are rarely obvious in young children. The lack of distinguishing features is one of the reasons that diagnosis can be delayed. You cannot tell that someone has fragile X just based upon their appearance or behaviour. The only way to tell if someone has Fragile X Syndrome is to do a genetic test.

You can also find out about how Fragile X Syndrome affects people by reading some of our members' family stories.

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About Fragile X Syndrome What is Fragile X Syndrome? Fragile X Syndrome is a genetic condition and is the most common inherited cause of learning disabilities. It affects around 1 in 4000 boys and men, as well as 1 in 6000 girls and women. Below you will find an introduction to fragile X.

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Genetic condition, caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1 (FMR1)

Affects both males and females. However, females often have milder symptoms than males.

Is diagnosed by testing a persons DNA through a blood test

No cure

Signs:

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);

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).

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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).

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Fragile x syndrome -Centre for disease and control 

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Fragile x syndrome -Centre for disease and control 

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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).

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

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Fragile X syndrome is a genetic disorder.

It is caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1,which makes a protein called FMRP that is needed for brain development. People who have FXS do not make this protein.

FXS affects both males and females.

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 7,000 males about 1 in 11,000 females have been diagnosed with FXS.

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).

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.

Autism spectrum disorder (ASD) also occur more frequently in people with FXS.

There is no cure for FXS.

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

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The condition causes a range of developmental problems including learning disabilities and cognitive impairment.