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Patient education: Fragile X syndrome (The Basics)

Patient education: Fragile X syndrome (The Basics)

What is fragile X syndrome? — Fragile X syndrome is a life-long condition that a person is born with. It causes learning and behavior problems, and certain body features. It can also cause certain medical problems.

Fragile X syndrome is caused by a problem with a gene on the "X" chromosome. Chromosomes are tiny parts of cells that carry the plans (genes) that make our bodies the way they are. Fragile X syndrome happens more often in boys than girls.

What are the symptoms of fragile X syndrome? — Symptoms can be different in different people. Girls with fragile X syndrome often have milder symptoms than boys. In fact, many girls have no symptoms at all. That's because girls have 2 "X" chromosomes in each of their cells, while boys only have 1. So if 1 "X" has a problem, girls still have another "X" that is normal.

People with fragile X syndrome might have the following body features:

A head that is bigger than normal (in children)

Crossed eyes, which is when the eyes don't line up or look in the same direction (figure 1)

Big ears, and eyes that look "sunken in"

Loose joints, such as in the thumbs, fingers, or wrists

Flat feet

Testicles that are bigger than normal (in male teens and adults) (figure 2)

Fragile X syndrome causes learning and behavior problems. Babies with fragile X syndrome can take longer to sit, walk, or talk (called "developmental delay"). Many people with fragile X syndrome have intellectual disability with a low IQ. This is more common in boys than girls.

Children with fragile X syndrome can:

Have trouble with problem solving and organization

Have problems with language and speaking

Have trouble sitting still, paying attention, or making good decisions

Feel very worried or sad

Fragile X syndrome also sometimes causes certain medical problems. These include:

Seizures, which are waves of abnormal electrical activity in the brain that can make people pass out or move or behave strangely

Trouble with the way the ovaries (female reproductive organs) work (figure 3)

A tremor, which is when the hand shakes

Is there a test for fragile X syndrome? — Yes. Your doctor or nurse will do an exam, ask about symptoms, and ask whether other family members have fragile X syndrome. They will also order a blood test to check for the abnormal gene.

Children and adults can be tested for fragile X syndrome if they have symptoms of the condition. People can also be tested for it if they have a family member who has it. Pregnant people might also choose to test their unborn baby if the condition runs in the family.

Children who are diagnosed with fragile X syndrome need further tests. These include tests to check their thinking, learning, and behavior.

How is fragile X syndrome treated? — Treatment depends on a person's symptoms and individual situation. It usually involves 1 or more of the following:

A school plan – Depending on your child's learning problems, the school will make a learning plan for your child.

Behavior therapy – This involves making changes at home or at school to help with your child's behavior.

Speech, language, physical, or occupational therapy – Specialists can help with your child's language and everyday activities.

Medicines – Some medicines help children sit still and pay attention. Others help when children feel very worried or sad. Children who have seizures are treated with anti-seizure medicines.

Regular follow-ups with the doctor – They will do exams and tests regularly to monitor your child for medical problems that can happen with fragile X syndrome.

Should other family members be tested for fragile X syndrome? — If you or your child is diagnosed with fragile X syndrome, let your family members know. They should talk with their doctor about getting tested for the condition.

What if I want to get pregnant? — Talk with your doctor or nurse before you start trying. They will probably recommend that you speak with a genetic counselor (a person who specializes in genetic conditions).

How can I learn more about fragile X syndrome? — Talk with your child's doctor or nurse. The National Fragile X Foundation also has information. Their website is www.fragilex.org.

More on this topic

Patient education: Crossed eyes and lazy eye (The Basics)
Patient education: Learning disabilities (The Basics)
Patient education: Attention deficit hyperactivity disorder (ADHD) in children (The Basics)
Patient education: Medicines for attention deficit hyperactivity disorder (ADHD) in children (The Basics)
Patient education: Autism spectrum disorder (The Basics)
Patient education: Seizures (The Basics)
Patient education: Tremor (The Basics)

Patient education: Treatment of attention deficit hyperactivity disorder in children (Beyond the Basics)
Patient education: Autism spectrum disorder (Beyond the Basics)
Patient education: Seizures in children (Beyond the Basics)
Patient education: Tremor (Beyond the Basics)

This topic retrieved from UpToDate on: Feb 02, 2024.
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