Rett Syndrome in Children

Rett syndrome is a rare genetic disorder that affects how a child’s brain develops. While most people affected by Rett syndrome are girls, there are many boys with the syndrome as well. As one of the first sites designated as a Rett Syndrome Center of Excellence by the International Rett Syndrome Foundation, Children's Health℠ make it easy for you to get all the care your child needs, all in one place.

We have participated in many research trials because we’re determined to find a cure and improve treatments for Rett syndrome. Our expert team can also manage your child’s symptoms – from improving their movement to strengthening their heart health.

What is Rett Syndrome?

Rett syndrome can sometimes be noticed as young as 6 months of age when a child has trouble reaching for things or holding them with their hands. Then, their head grows more slowly than a typically developing child (a condition known as acquired microcephaly). Over time, people with Rett Syndrome lose their ability to speak, walk, sleep or feed themselves. Seizures (quick, uncontrollable disturbances in the brain) are common, too.

What are the different types of Rett Syndrome?

Broadly speaking, there are two main types of Rett syndrome:

Classical Rett Syndrome

This is the most common form of Rett syndrome. Over time, a child loses their ability to speak, walk, sleep or feed themselves.

Atypical Rett Syndrome

A child with atypical Rett syndrome has many of the same symptoms as a child with classical Rett syndrome, but they are more likely to have seizures.

What are the signs and symptoms of Rett Syndrome?

  • Loss of previously acquired language
  • Loss of motor skills
  • Abnormal hand movements
  • Agitation and irritability
  • Breathing problems
  • Cognitive (thinking) disabilities
  • Curvature of the spine (scoliosis)
  • Irregular heartbeat (arrhythmia)
  • Loss of the ability to communicate
  • Loss of normal movement and coordination
  • Pain
  • Seizures
  • Slowed growth
  • Unusual eye movements

How is Rett Syndrome diagnosed?

Your Children’s Health doctor will perform a detailed physical exam of your child and ask about their medical history and your family’s medical history.

Here’s what you can expect during an exam:

  • Your doctor will ask if your child has seizures and what you observed.
  • Your doctor will learn more about your child’s development by asking questions about their communication, sleep patterns and cognitive skills.
  • Your doctor will measure your child’s head circumference (because a small head is a symptom of Rett syndrome).

Your doctor might prescribe the following tests:

  • Electroencephalogram (EEG) to look for underlying brain patterns of Rett syndrome. An EEG is performed by placing electrodes on the scalp and recording the brain’s electrical activity.
  • Genetic testing to identify changes (also called pathogenic variants) in your child's DNA that can reveal more about your child’s condition and what symptoms they may experience.
  • MRI to rule out other causes of your child’s symptoms and to look for factors that may affect your child’s needs and treatment.

What causes Rett Syndrome?

Rett syndrome is caused by a genetic change. There is nothing you could have done to prevent your child from getting Rett syndrome.

How is Rett Syndrome treated?

While there is currently no known cure for Rett syndrome, we offer many treatments that can help manage your child’s symptoms.

For example:

  • If your child isn’t getting adequate nutrition, we’ll have you work with a nutritionist to make sure your child is getting the nutrients they need to grow as strong as possible.
  • If your child has behavioral issues, we’ll introduce you to a behavioral therapist who can help manage things like irritability, crying and hyperactivity.
  • If your child has heart problems, we’ll partner with a cardiologist to make sure your child gets the heart care they need.
  • If your child has scoliosis, we’ll have them meet with an orthopedic specialist who can recommend bracing or surgery
  • If your child has seizures, we’ll put your child on anti-seizure medications. If medication doesn’t work, we may prescribe a high-fat, low carb diet (ketogenic diet).
  • If your child has a sleep disorder, we’ll send them to our Sleep Disorders Center for an evaluation.
  • If your child has difficulty walking, we’ll refer you to a physical or occupational therapist (OT) to help improve their walking and increase muscle tone.

Rett Syndrome in Children Doctors and Providers

While Rett Syndrome is rare, our team of expert neurologists has expertise in the condition and can match your child with the best available.

Frequently Asked Questions

  • What is the life expectancy of a child with Rett Syndrome?

    Children with Rett syndrome have numerous medical challenges that can contribute to death at an earlier age than their peers. Currently, many women with Rett syndrome are living into middle age.

  • What are the treatment goals for Rett Syndrome?

    The main goals of treatment are to:

    • Optimize function and support new learning
    • Improve the ability to communicate and socialize
    • Support nutrition and maintain oral feeding as much as possible
    • Enhance comfort