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Fragile X Syndrome

Fragile X syndrome is a genetic disorder caused by a mutation on the X chromosome that affects brain development and function. It is the most common cause of inherited intellectual disability (mental retardation).

Fragile X causes behavioral and emotional problems, along with intellectual impairment.

Fragile X syndrome: what you should know

  • A DNA blood test can diagnose fragile X syndrome in children of all ages.
  • Early diagnosis allows your child to get early intervention and therapies that can help improve the symptoms of fragile X.
  • Fragile X is the most common known genetic cause of autism, but not everyone with fragile X has autism.
  • Children with fragile X often have problems with sensation, emotion and behavior.
  • Fragile X symptoms are typically less severe in girls than boys. Boys tend to have more serious intellectual disability and more behavior problems than girls. Girls with fragile X may have normal intelligence and learning disabilities, social and emotional problems, anxiety and/or attention problems — or they may have no problems.

What are symptoms of fragile X syndrome?

Talk to your pediatrician if your child has any of these fragile X symptoms:

  • Developmental delays: Not sitting, walking or talking at the same time as other children their age
  • Learning disabilities: Trouble learning new skills
  • Social and behavioral problems: Not making eye contact, anxiety, hand flapping, trouble paying attention
  • Communication challenges: Difficulty talking to and interacting with other

Having these symptoms does not mean your child has fragile X syndrome. Many other conditions have similar symptoms. Your doctor at Rush can help you determine the root of your child’s problem.

Care for fragile X syndrome at Rush

While there is no cure for fragile X syndrome, Rush offers — or can refer you to— a wide range of treatments and services to help children with fragile X reach their full potential.

  • Medications can help manage neurological issues (e.g., seizures) and behavioral challenges.
  • Educational recommendations can help you create the most effective learning environment and strategies for your child.
  • Speech therapy helps your child improve pronunciation and use language effectively.
  • Occupational therapy helps your child learn how to complete day-to-day tasks.
  • Physical therapy uses activities and exercises to improve your child’s motor skills, posture and balance.
  • Behavioral therapy teaches you and your child how to cope with behavioral challenges of fragile X.

Why choose Rush for fragile X syndrome care

  • The Fragile X Clinic at Rush offers comprehensive care, family counseling and diagnosis of fragile X syndrome. This is the only fragile X clinic in Chicago.
  • The neurology and neurosurgery program at Rush is consistently named one of the top programs in the country by U.S. News and World Report.
  • Pediatric experts in the following specialties at Rush work together to offer your child comprehensive care for fragile X:
  • Genetics specialists at Rush University Children’s Hospital have international reputations for their contributions to genetics research, including fragile X.
  • Clinician-researchers in the Fragile X Research and Fragile X-Associated Disorders Programs at Rush are leaders in researching and developing new treatments for fragile X.
  • The Section of Genetics at Rush provides genetic counseling, testing and support for families facing fragile X syndrome.

Departments and programs that treat this condition