Rett Syndrome

Rett syndrome is a rare condition that affects the brain and nervous system (neurological) and causes developmental delays. Children begin to lose abilities around age 6 to 18 months. 

What Is Rett Syndrome?

Rett syndrome is a rare condition that affects how the brain develops. It causes nerve cells in the brain to lose function, which means it is a neurodevelopmental disorder. Children with Rett syndrome lose language and motor skills, such as crawling or walking. Rett syndrome is very rare. It affects 1 in 10,000 females and even more rarely affects males. 

Children who develop Rett syndrome usually have a typical birth. Symptoms begin to show between ages 6 to 18 months. The child may miss developmental milestones or lose abilities they had, such as talking or walking. It’s important to remember that people with Rett syndrome can understand more than they are able to communicate. 

What Are the Symptoms of Rett Syndrome?

The level of severity varies per child. Rett syndrome leads to difficulty in most aspects of living, including eating, speaking, breathing, moving and learning. While every case of Rett Syndrome is unique, there are similar symptoms, such as:

    • Loss of speech
    • Repetitive or uncontrollable (involuntary) hand movements
    • Loss of mobility or difficulty walking (gait disturbances)
    • Loss of muscle tone
    • Seizures
    • Curving of the spine (scoliosis)
    • Breathing issues
    • Changes or disruptions in sleep
    • Slowed rate of growth for head, feet and hands

What Causes Rett Syndrome?

Rett syndrome is usually due to a change (mutation) in a gene called MECP2 on the X chromosome. In nearly all cases it is not inherited, which means a parent cannot pass it on to a child. If a family has a child with Rett syndrome, the chance of having a second child with the disorder is very low.

How Is Rett Syndrome Diagnosed?

Only a doctor can diagnose Rett syndrome. A blood test can tell if the child has the MECP2 mutation that causes Rett syndrome. The blood test is not enough information for a diagnosis. A doctor must make a diagnosis that is based on noting certain signs and symptoms. There are four main points (criteria) that a doctor will use for a Rett syndrome diagnosis. These include:

  1. Partial or complete loss of purposeful hand skills
  2. Partial or complete loss of spoken language
  3. Impaired or no ability to walk (also called gait abnormalities)
  4. Repetitive hand movements such as:
    • Wringing, squeezing, clapping or tapping hands
    • Mouthing or putting hands in mouth
    • Washing or rubbing hands that seems to be uncontrollable (this is typical of Rett syndrome)

How Is Rett Syndrome Treated?

Rett syndrome does not have a cure. Treatment can include medication for symptoms like breathing problems or seizures. Occupational therapy can help with fine motor skills and activities of daily living, such as dressing and feeding. Physical therapy can help with walking or mobility. Some people may need special equipment like braces, splints or wheelchairs.

Many people with Rett syndrome can live into middle age or older. Researchers continue to study the disorder to learn more about it.

When Should I Get Help for My Child?

If you are worried about your child’s development, talk to your doctor. The sooner caregivers understand their child’s diagnosis and its impacts, the better they can support their child and adapt the environment to meet the child’s needs.

Nationwide Children’s is an International Rett Syndrome Foundation (IRSF) Center of Excellence. The designation recognizes Nationwide Children’s continued dedication to providing best-in-class clinical care for Rett syndrome.


Our team is happy to answer questions or address any concerns you may have.