Fragile X Program

We know it can feel overwhelming when your child faces multiple diagnoses. That’s why the Thompson Autism and Neurodevelopmental Center at CHOC offers several programs for conditions that can occur alongside autism, such as Fragile X syndrome.

The Fragile X Program provides comprehensive evaluation and treatment services for children with Fragile X syndrome (FXS) and other Fragile X-associated disorders. Our interdisciplinary team of clinicians manages the unique medical, behavioral and educational needs of each patient, and families may see all of their clinicians in one visit, in one place. These specialties include:

• Neurology
• Genetic counseling/testing
• Psychiatry
• Clinical social work
• Speech and language
• Occupational therapy
• Applied behavior analysis and other behavior/cognitive therapies
• Neuropsychology
• School services/placement

The Fragile X Program also provides services and referrals for premutation carriers with Fragile X-associated tremor ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency syndrome (FXPOI).

The Thompson Autism and Neurodevelopmental Center at CHOC has been a member of the Fragile X Clinical & Research Consortium since March 2022.

What to Expect at the Clinic Visit

At the initial appointment and evaluation, patients are seen by specialists from neurology, neurodevelopmental disabilities or developmental pediatrics and psychology, as well as a social worker and resource coordinator.

Speech language, genetic testing/counseling, psychiatry, clinical social work, neuropsychology testing, physical therapy, occupational therapy, behavior psychology and other disciplines are scheduled based on clinical need. Medication management is also provided, if needed.

Follow-up appointments will be scheduled on a regular basis as needed.

Research

Access to research studies will be provided, with some studies conducted at our center and others at sites across the country through the Fragile X consortium. Learn more about Fragile X research at the Thompson Autism and Neurodevelopmental Center at CHOC.

What is Fragile X Syndrome?

Fragile X syndrome is a genetic condition that can cause cognitive problems, from mild learning disabilities to severe intellectual disability. The syndrome is also characterized by several neurodevelopmental challenges, including attention difficulties, anxiety, seizures, sleep disorders and sensory processing difficulties. Almost 50 percent of males and 16 percent of females with Fragile X also have autism, according to the CDC.

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.

Why Choose the Thompson Autism and Neurodevelopmental Center at CHOC?

When your child has a neurodevelopmental condition such as Fragile X syndrome, you want access to every resource available. The Thompson Autism and Neurodevelopmental Center at CHOC is dedicated to bringing the latest treatments, innovative research and resources to the autism community in Orange County. Through our unique programs, children have a centralized place where they can receive early diagnosis, advanced therapy and the possibility to reach their true potential. We have a multidisciplinary approach, including psychology, psychiatry, neurology, neurodevelopment, speech, occupational therapy, child life services, social work, assistance with school services, onsite resource coordinators and easy access to genetics, gastroenterology, physical medicine and rehab and other services.

How can my child participate in the program?

Children who take part in the Fragile X Program at the Thompson Autism and Neurodevelopmental Center will be referred by their provider at CHOC. If you have questions about your child and our program, speak with your child’s CHOC provider for more information.