Fragile X syndrome is a genetic condition that can cause developmental problems, including:

• Autism
• Anxiety
• Attention-deficit hyperactivity disorder (ADHD)
• Intellectual disability
• Learning disability
• Seizures

Each child with Fragile X syndrome may have mild or severe forms of these problems. It is a rare condition, affecting 1 in 4,000 boys and 1 in 8,000 girls. There is no cure for Fragile X syndrome, though many therapies and early intervention can help children with developmental disabilities.

Tests

Amniocentesis
Pregnant women can undergo amniocentesis testing. This testing takes a sample of the amniotic fluid in the womb. The sample is run through genetic tests that can identify fragile X syndrome. Always talk to your physician about the risks and benefits of amniocentesis.

Chorionic Villus Testing
During chorionic villus testing, your doctor takes a small sample of the placenta from the womb. The placenta is run through genetic tests to check for fragile X syndrome or other conditions. Always talk to your physician about the risks and benefits of chorionic villus testing.

Blood Testing
If your child displays signs of Fragile X syndrome, your doctor may suggest genetic testing. A clinical geneticist will take a sample of your child’s blood to test for Fragile X syndrome. Test results can help you get early intervention.

Treatments

Early Interventions
Children with Fragile X syndrome benefit from early intervention. Early intervention may include different types of therapy — such as physical, occupational, or speech — as early as possible following diagnosis.

Speech Therapy
Speech therapy helps children with Fragile X syndrome develop language and communication skills.

Physical Therapy
Physical therapy helps children develop motor skills, like walking or balancing.

Occupational Therapy
Occupational therapy helps children with activities of daily life, like feeding or dressing themselves.

Behavioral Therapy
Behavioral therapy helps children and parents cope with behavioral issues, teaching them strategies to prevent behavioral problems.

Medicines
There isn’t a single, specific medicine for Fragile X syndrome. However, your child may take medicines for issues like ADHD, seizures, anxiety, sleep problems, or mood problems.

Special Education Services
Children with Fragile X syndrome will need special education support at school. Depending on your child’s needs, they may only need assistance in the classroom or may need to be in their own special education classroom. Work with your child’s school to develop a plan for your child.

Why Choose UHealth?

A national leader in precision medicine. As leaders in precision medicine, we have been selected by the National Institutes of Health (NIH) as one of 10 sites in the country to participate in the All of Us Research Program. This program finds new ways to deliver personalized care by considering your particular lifestyle, health conditions, and genetics. As one of our patients, you can help change the future of health care and precision medicine, helping future generations receive the specialized care they need.

Innovative treatment designed for you. Using advanced genetic tests, our genetics experts identify the exact cause of your child's condition and provide medical management based on your child’s needs. Our experienced team leads the South Florida Fragile X Clinic, which consists of experts in Fragile X syndrome, such as geneticists, psychologists, and developmental pediatricians. This clinic is one of only 31 specialized Fragile X clinics in the country. This means your child gets more testing and treatment options designed just for them.