How is fragile X syndrome treated?
Throughout childhood, ongoing therapies and support to address learning and intellectual disabilities, speech disorders, gross and fine motor deficits, anxiety and other behavioral and emotional difficulties may be necessary. Counseling and medications are often recommended to help children with behavioral, emotional or social issues. The treatment of fragile X syndrome depends on each particular child’s needs. In most cases, treatment involves strong early intervention therapies to address developmental delays, including speech, occupational, and physical therapies. Specific therapies for autism spectrum disorders may also be recommended, if needed.
About15% of individuals with fragile X also have seizures that are treated with medications by a neurologist. Screening and treatment of seizures and other associated medical problems are also important to optimize development and behavior, such as treatment of ear infections (to ensure adequate hearing for speech development), sleep disorders, sensory-based feeding difficulties, constipation and others.
There are also many new medications that have been developed specifically for fragile X syndrome that target the underlying neurobiological differences caused by the fragile X mutation and missing FMRP protein. These medications are currently being studied in Colorado and around the country.
Why choose Children's Hospital Colorado for your child's fragile X syndrome?
The Fragile X Clinic at the Children’s Colorado treats children, young adults and families affected by mutations in the fragile X gene. Our professionals have experience evaluating and treating individuals with fragile X syndrome and fragile X permutations. Members of the Fragile X Clinic team at Children's Colorado include developmental pediatricians, a genetic counselor and a clinical psychologist.
Consultation with other departments at Children's Colorado including Clinical Genetics, Hearing, Speech and Learning, Occupational Therapy, Physical Therapy, Neurology, Psychiatry, Sleep Medicine, and Dentistry are available when our patients need them. We also have close collaborations with adult neurologists at University of Colorado Hospital and many community providers who have expertise in the treatment of fragile X and fragile X related conditions.
What to expect from the Fragile X Clinic
After a clinical evaluation, families receive a comprehensive report that details specific recommendations for your child in order to support their developmental,behavioral, academic and emotional needs, as well as necessary medical management. Ongoing developmental monitoring, medication management for behavioral difficulties and general consultation about updates in clinical care and research in fragile X disorders are also available through the clinic.
Our fragile X research
The Fragile X Clinic within the Child Development Unit is one of 26 clinics nationwide in the Fragile X Clinical and Research Consortium sponsored by the National Fragile X Foundation. Clinics in the consortium provide individuals and families affected by fragile X-associated disorders with evaluation and care supported by the latest medical, educational and research knowledge available.
The consortium is actively establishing “best practice” recommendations for evaluation and ongoing care in fragile X, enrolling fragile X families into a national registry to be used for research and research recruitment, and building a nationwide network for collaborative research efforts.