Rett Syndrome

With the right therapies, treatments and supports, children who have Rett syndrome can live long, fulfilling lives.

Remarkable Care for Kids

  • Clinical excellence: The Rush Rett Multidisciplinary Clinic is a designated Rett Syndrome Clinical Research Center of Excellence by Rettsyndrome.org (formerly known as the International Rett Syndrome Foundation). The Rush clinic is one of only 14 centers nationwide to earn this distinction. 
  • Multidisciplinary care: The Rush Rett Multidisciplinary Clinic meets on Friday mornings and brings together a team of adult and pediatric gastroenterologists, a rehabilitation physician, pediatric cardiologists, pediatric neurologists and a family medicine doctor who specializes in developmental issues in girls. Patients and their families can see up to five specialists in one day, which helps consolidate multiple aspects of care.
  • Leaders in pediatric neurology: Leading clinician-researchers in pediatric neurology at Rush are dedicated to finding new approaches and treatments for rare neurological diseases in children, including Rett syndrome.
  • Access to clinical trials: At Rush, your child may have access to clinical trials that are studying new treatments and approaches to caring for children with Rett syndrome.
  • Genetic testing and counseling: The Section of Genetics at Rush provides genetic counseling, testing and support for families facing neurological genetic disorders like Rett syndrome.

What is Rett syndrome?

Rett syndrome is a neurological and developmental disorder that primarily affects girls. Babies with Rett syndrome appear to be developing normally before symptoms begin surfacing, typically within one to two years of life.

Ultimately, Rett syndrome leads to problems in cognitive, sensory, emotional, motor and autonomic functions, as well as seizures. Children who have Rett syndrome also often struggle with heart, breathing and digestive disorders.

However, with the right therapies, treatments and supports, children who have Rett syndrome can live long, fulfilling lives.

Symptoms of Rett syndrome

Some symptoms of Rett syndrome include the following:

  • Loss of muscle tone (or hypotonia); legs and arms appear floppy
  • Loss of ability to grasp objects
  • Loss of ability to speak
  • Problems with balance or coordination
  • Repetitive hand movements
  • Loss of ability to walk
  • Anxiety
  • Intellectual disability
  • Epilepsy
  • Scoliosis

Having these symptoms does not necessarily mean your child has Rett syndrome. Other conditions have similar symptoms. Your pediatrician and/or a pediatric neurologist at Rush can help you determine the root of the problem and the best course of action.

Rett syndrome: what you should know

  • Rett syndrome is caused by a rare genetic mutation on the MECP2 gene.
  • Rett syndrome is often misdiagnosed for autism, cerebral palsy or developmental delay. Getting a second opinion is important.
  • There is currently no cure for Rett syndrome. Instead, treatment typically revolves around alleviating symptoms, slowing the loss of abilities and improving movement and communication.

Care for Rett syndrome at Rush

Your child will receive care from the Rush Rett Multidisciplinary Clinic, a Rett Syndrome Clinical Research Center of Excellence. At the clinic, a team of specialists will work with you, your child and each other to create a comprehensive, personalized care plan tailored to your child’s specific needs.

Diagnosis: Your pediatric neurologist will assess your daughter with a full neurological exam and a simple blood test to determine if she has a genetic mutation on the MECP2 gene, which is a strong indication of Rett syndrome.

Medications: Medications can be used to help address the health conditions that many girls with Rett syndrome experience, including breathing problems, irregular heartbeat, gastrointestinal conditions and seizures.

Therapies: There are a number of complementary therapies that can help improve your child’s mobility, strengthen her ability to use her hands, gain independence, communicate and socialize. Some of these therapies include physical therapy, occupational therapy, speech-language therapy and nutrition counseling.

Clinical trials: Clinician researchers at Rush are leading an effort to find life-changing treatment for this disease. Participating in clinical trials offers your child an opportunity to receive advanced treatments and contribute to finding effective treatments for all children with Rett syndrome. Talk to your pediatric neurologist to determine if your child is a good candidate for a clinical trial.