Fragile X

Program

The Stramski Center is proud to be home to Southern California's only Fragile X Program. Fragile X syndrome is the most common known single gene cause of autism. Approximately one-third of all children diagnosed with Fragile X syndrome also have some degree of autism. The Fragile X genetic mutation can be accurately diagnosed with a simple DNA blood test.

Characteristics of Fragile X Syndrome

The Fragile X mutation often worsens when passed from mother to child. Because of this, children born with Fragile X syndrome frequently appear in families with no previous history of mental disability. Fragile X appears in children of all ethnic, racial and socio-economic backgrounds. Some of the characteristics include:

  • Hyperactivity

  • Cross-eyed

  • Prominent ears

  • Tactile defensiveness

  • Autistic behaviors

  • Developmental delays

  • Repetitive speech

  • Poor eye contact

  • Flat feet

  • Shyness

  • Narrow face

  • Slow speech development

Who Should Be Tested for Fragile X?
  • Individuals with intellectual disability or autism of unknown origin

  • People with significant hyperactivity, learning disabilities and/or mild cognitive deficits

  • People with any of the physical or behavioral features of Fragile X syndrome

  • Any individual who has a family member with a diagnosis of Fragile X syndrome, regardless of mental impairment

 

It is important to know that getting a child tested and treated early for Fragile X can help tremendously with his or her development in the future.

Clinical Testing

A multidisciplinary care team is involved with the Fragile X program, including behavioral pediatricians, geneticists, psychologists, neurologists, speech and language pathologists, occupational therapists, pathologists and social workers. Children with Fragile X syndrome, including those with the full mutation and those with another permutation permutation, are evaluated. The Fragile X genetic mutation can be accurately diagnosed with a simple DNA blood test.

Treatment

At this time, there is no cure for Fragile X, but the Stramski Center supports research initiatives to help with treatment plans and diagnosis. Some symptoms of Fragile X are treatable with a multidisciplinary therapeutic approach incorporating educational, behavioral, and medical management techniques, including medications. Occupational, physical and speech therapies are incorporated into the treatment plan.



For children, medical treatment focuses on hyperactivity (ADHD) symptoms, tantrums, anxiety mood instability and obsessive-compulsive behaviors. Occupational therapists use sensory integration techniques, reinforced by teachers, to improve these children’s ability to organize their behavior, learn new information, and increase their potential for a productive life. Stimulants are commonly prescribed as a way to help control some symptoms of Fragile X.

Fragile X Team
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© 2018 by Stramski Children's Developmental Center