Rett Syndrome

Rett syndrome is a rare genetic developmental and neurological disorder. It almost exclusively affects girls. Children with this disorder often develop normally for their first six to 18 months. After that, they start to lose certain skills as their development slows.

Rett syndrome is caused by changes (mutations) in a gene called MECP2. This gene makes a protein that’s believed to control the functions of many other genes. It also has a key role in brain development. When there is less of the MECP2 protein, parts of the brain can’t develop correctly.

Rett syndrome is a genetic disorder, but it’s rarely passed down from parents to children. Instead, the gene mutation occurs randomly. So the risk of having more than one child with this condition is very small—less than 1 in 100.

One of the early signs of Rett syndrome is a loss of milestones that a child already had. Symptoms can range from mild to severe. This depends on the type and location of the MECP2 gene mutation, and how severe it is.

Symptoms may include:

• Loss of speech
• Loss of walking or crawling skills
• Uncontrollable hand movements
• Impaired thinking (cognitive) abilities
• Reduced eye contact
• Irritability
• Social isolation
• Teeth grinding
• Trouble chewing and swallowing
• Trouble sleeping
• Breathing problems, such as breathing very fast (hyperventilation) and breath holding
• Gastrointestinal problems
• Loss of muscle tone (hypotonia)
• Rigid, stiff muscles
• Small head size (microcephaly)
• Curvature of the spine (scoliosis)

A healthcare provider can make a diagnosis. This involves doing a physical exam, taking a detailed health history, and also seeing symptoms as the child is growing. A blood test may also be done to confirm that there is a change to the MECP2 gene.

There is no cure for Rett syndrome. Treatment focuses on managing symptoms, slowing down the loss of abilities, and helping with communication.

Treatment may include:

• Your child’s health care provider may prescribe medicines to help with breathing problems or motor problems. Anticonvulsant medicines may be prescribed to control seizures.
• Physical therapy may help a child maintain or improve their mobility. Hydrotherapy is physical therapy that’s done in water.
• Occupational therapy can help with skills like getting dressed and feeding. It can also help reduce uncontrolled hand movements.
• A speech-language pathologist can help with communication issues.
• Your child will need regular evaluations to check for scoliosis and any heart problems.
• Eating a healthy diet can help manage symptoms and keep your child at an appropriate weight. Your child’s provider can help you create a nutrition plan for your child.
• A child with Rett syndrome may need special equipment, such as a communication device, or braces to help with scoliosis. They may need a walker or wheelchair, or splints to help change their hand movements.

Children with Rett syndrome can grow up and live well into adulthood. They will require ongoing care and help with daily tasks throughout their lives. Parents can also help by advocating for the right treatment and supports for their child, both during the school years and beyond.

Caring for a child with Rett syndrome can be very stressful. So it can be helpful to connect with other parents of children with this disorder. For more information, and to learn about resources, visit the International Rett Syndrome Foundation.

Contact your child’s healthcare provider right away if your child has:

• Loss of speech
• Loss of balance
• Loss of coordinated hand movements
• Loss of muscle tone
• Delayed head growth
• Breathing problems

At Children's National, our dedicated Rett Syndrome Clinic is here to help. For information or to schedule an appointment, email the Neurodevelopmental Pediatrics team.