What is Rett syndrome in children?

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 6 to 18 months. After that, they start to lose certain skills as their development slows.

Symptoms of Rett syndrome vary, and can be mild or severe. A child may have uncontrolled hand movements, and trouble eating and swallowing. They may lose their ability to walk or speak, or have seizures. Many people with this condition live into adulthood. But they need ongoing care and supervision.

What causes Rett syndrome in a child?

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 1 child with this condition is very small—less than 1 in 100.

Which children are at risk for Rett syndrome?

About 9 in 10 to 19 in 20 cases of Rett syndrome affect girls. In rare cases, a male is diagnosed with the disorder.

What are the symptoms of Rett syndrome in a child?

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)

Some of these symptoms can also be caused by other health problems. Always have your child see their healthcare provider for a diagnosis.

How is Rett syndrome diagnosed in a child?

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.

How is Rett syndrome in a child treated?

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:

• · Medicines. Your child’s healthcare provider may prescribe medicines to help with breathing problems or motor problems. Anticonvulsant medicines may be prescribed to control seizures.

• Physical therapy and hydrotherapy. Physical therapy may help a child maintain or improve their mobility. Hydrotherapy is physical therapy that’s done in water.

• Occupational therapy. This type of therapy can help with skills like getting dressed and feeding. It can also help reduce uncontrolled hand movements.

• Speech and language therapy. A speech-language pathologist can help with communication issues.

• Regular medical care. Your child will need regular evaluations to check for scoliosis and any heart problems.

• Nutritional help. 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.

• Equipment. 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 will likely need special educational assistance.

What can I do to prevent Rett syndrome in my child?

It’s not known how to prevent Rett syndrome. The gene mutation that causes the condition occurs randomly. But if you have a child or another family member with this disorder, ask your healthcare provider about genetic testing.

How can I help my child live with Rett syndrome?

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 .

When should I call my child's healthcare provider?

Call your child’s provider right away if your child has any of the following:

• Loss of speech

• Loss of balance

• Loss of coordinated hand movements

• Loss of muscle tone

• Delayed head growth

• Breathing problems

Key points about Rett syndrome in children

• Rett syndrome is a rare genetic developmental and neurological disorder.

• This condition almost always affects girls.

• Children with this disorder often develop normally for their first 6 to 18 months. Then they start to lose certain skills as their development slows.

• Symptoms include loss of balance, loss of speech, and delayed head growth.

• There is no cure. But treatment, such as physical therapy, can help manage symptoms.

Next steps

Tips to help you get the most from a visit to your child’s healthcare provider:

• · Know the reason for the visit and what you want to happen.

• · Before your visit, write down questions you want answered.

• · At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.

• Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.

• Ask if your child’s condition can be treated in other ways.

• Know why a test or procedure is recommended and what the results could mean.

• Know what to expect if your child does not take the medicine or have the test or procedure.

• If your child has a follow-up appointment, write down the date, time, and purpose for that visit.

• Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.