Fragile X Program

Stramski Children’s Developmental Center at Miller Children’s is home to Southern California’s only Fragile X Program. Fragile X is a family of genetic conditions that’s caused by changes in the same gene. 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

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
Tactile defensiveness
Poor eye contact
Shyness
Obsessiveness
Autistic behaviors
Repetitive speech

Developmental delays
Slow speech development
Narrow face
Prominent ears
Flat feet
Cross-eyed

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.

Clinical Evaluation

A multi-disciplinary 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 the 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 Children’s Developmental 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. Stimulants are commonly prescribed as a way to help control some symptoms of Fragile X.

Research Studies

There could be some visual processing difference in infants with Fragile X and down syndrome, than in infants with typical development. A national research study is looking into where certain visual deficits exist in these disorders to guide new treatments.
In children and adolescents, there is a study that uses brain measurements, through an MRI, and records measurements of startle. This shows the function of the amygdala, a region of the brain that regulates emotions, in children and adolescents with Fragile X compared to typical developing controls. Establishing the presence of amygdala dysfunction will lay the ground work for future treatment studies.

The Fragile X Program is a part of the Behavioral and Neurodevelopment Program at the Stramski Center. Visit the Behavioral and Neurodevelopment Center.

For more information on Fragile X, visit the National Fragile X Foundation website.