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Rett Syndrome

Conditions

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What is Rett Syndrome?

Rett syndrome is a genetic disorder due in most cases to a change in a specific gene called MECP2. The MECP2 gene is located on the X chromosome. The disorder affects primarily girls and women, and with a prevalence of one in 10,000 women, it is the most common neurological condition in females.

Rett syndrome can affect the function of the brain in a wide variety of ways, ranging from language, communication, autonomic motor function and breathing functions. While devastating, the condition is compatible with long life.

Texas Children’s Hospital is the preeminent institution in the country researching and treating patients with Rett syndrome. The Texas Children’s Blue Bird Circle Clinic is a multidisciplinary center providing family-centered care for patients with Rett syndrome. Specialists from neurology, epilepsy, orthopedics, pulmonology, physical medicine, rehabilitation and cardiology all contribute to the care of our patients. The Blue Bird Circle Rett Syndrome Clinic at Texas Children’s sees 300-400 Rett syndrome patients a year.

In addition, Texas Children’s Hospital is home to the Jan and Dan Duncan Neurological Research Institute, one of the leading institutions studying Rett syndrome. The institute is led by Dr. Huda Zogbhi, who is credited with identifying the gene that causes Rett syndrome and is considered a world-renowned expert on Rett syndrome and other neurological disorders.

Symptoms

Those affected by Rett syndrome will experience normal development in the first months and year and then experience a regression or loss of skills. Rett syndrome causes problems in brain functions that are responsible for cognitive, sensory, emotional, motor and autonomic function. People with Rett syndrome are impaired in hand use and spoken language and have problems with sensations, mood, movement, breathing, cardiac function, as well as chewing, swallowing and growth.

  • Motor
  • Language
  • Communication
  • Breathing
  • Autonomic

Causes

Rett syndrome is caused by a mutation of the MECP2 gene. The gene mutation occurs from a pattern of inheritance.

Diagnosis

A genetic test or DNA analysis may be ordered to confirm if a patient has Rett syndrome. A doctor will extract a small amount of blood from the patient which will be sent to a lab for review. In addition to a genetic test, other imaging tests like MRI and CT scan may be necessary.

Treatment

Currently there are no curative treatments for Rett syndrome, but many therapies do exist that improve quality of life. Thanks to the development and research of the MECP2 gene, Rett syndrome may be diagnosed at an earlier age. Rett syndrome research is promising, and many think a cure will one day be achieved.

Patient Stories

Additional resources

To learn more about the Epilepsy Center at Texas Children’s Hospital and to inquire about admissions and patient candidates, please contact 832-822-0959.