Our Stramski Center is home to Southern California. 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. Clinical evaluations and treatments of patients with Fragile X is an important component of the Behavioral Neurodevelopment Program at the Stramski Center.
Characteristics of Fragile X
People who have the Fragile X gene, can present as premutations, meaning that they do not have the features of Fragile X syndrome, but are at risk of certain health conditions as they get older. These premutation carriers, can pass the gene on to their children with the likely hood that the genetic abnormality will amplify and result in the progeny developing the full mutation. 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:
- Tactile defensiveness
- Poor eye contact
- Autistic behaviors
- Repetitive speech
- Developmental delays
- Slow speech development
- Narrow face
- Prominent ears
- Flat feet
Who should be tested for Fragile X?
- All people 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, regardless of gender or family history.
- 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 their development in the future.
A multi-disciplinary care team is involved with the Fragile X Program, including behavioral pediatricians, geneticists, psychologists, speech and language pathologists, occupational therapists, and social workers. Children with Fragile X Syndrome, including those with the full mutation and those with the permutation, are evaluated. The Fragile X genetic mutation can be accurately diagnosed with a simple DNA blood test.
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 multi-disciplinary 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 can use sensory integration techniques, along with the child’s teacher and parents, to improve these children’s ability to organize their behavior, learn new information and increase their potential for a productive life. Medications are commonly prescribed to help control the symptoms of Fragile X.
- Many research studies are underway in the medical community working with Fragile X syndrome. Some centers in the country are more active with research endeavors than others.
The Fragile X Program is one of the programs provided by the Stramski Center and is part of the Fragile X Clinical and Research Consortium, a collaboration between the National Fragile X Foundation and the Centers for Disease control. The consortium is involved in collecting ongoing data about Fragile X syndrome to that we can understand this condition better.
For more information on Fragile X, visit the National Fragile X Foundation website.