Rett Syndrome: What You Should Know About This Childhood Condition

This article is for parents and caregivers of children who are living with Rett syndrome, or anyone who wants to learn more about Rett syndrome. The goal of this activity is to help you talk to and work with your child's doctor about Rett syndrome.

You will learn about:

• What Rett syndrome is and its stages

• Rett syndrome symptoms and how they may appear

• Complications (additional problems) that may happen

• Talking to your doctor about Rett syndrome

• Questions to ask your doctor and healthcare team

Rett syndrome is a rare genetic condition that affects the way the brain develops. It is caused by a gene mutation that almost always happens by chance. A gene mutation is a change in the information inside cells that determines traits or characteristics.

Rett syndrome is most often found in female children. Most people have a pair of sex chromosomes in each of their cells -- 2 X chromosomes in females and 1 X and 1 Y chromosome in males. Most people who have Rett syndrome will have the mutation on their X chromosome. Since males only have 1 X chromosome, they rarely live past birth if they develop the mutation.

Most babies born with Rett syndrome appear to grow and develop as expected during their first 6 months. But over time, they can begin to have problems using the muscles that control their movements and coordination and may start losing skills like being able to crawl, walk, communicate, or use their hands.

Symptoms of Rett syndrome can include:

• Slowed or delayed growth

• A small head (microcephaly)

• Problems thinking, learning, understanding, and communicating (language, speaking, eye contact)

• Staring or blinking

• Hand movements such as repeatedly rubbing, squeezing, tapping, or clapping

• Muscle weakness or stiffness

• Breathing problems

• Irritability and crying

• Loss of interest in other people, toys, or their surroundings

• Seizures

Complications (additional problems) that may happen with Rett syndrome can include problems with:

• Sleep

• Eating and nutrition

• Bladder and bowels, such as constipation or lack of control over going to the bathroom (peeing or pooping)

• Muscles, bones, and joints

• Pain from digestive system or bone problems

• Behavior and anxiety

Some children may need care and help with daily activities, including after they become adults. And while most will live into adulthood, they may not live as long someone who does not have Rett syndrome because of heart problems and other health conditions that may happen.

When symptoms happen can vary from child to child, but the most common ones usually appear between 12 and 18 months of age and can happen suddenly or slowly.

Which symptoms happen can also vary, but they may be subtle at first or in the early stage of Rett syndrome:

• Stage 1, or early onset, starts between 6 and 18 months of age and can last for a few months or a year. Babies may have less eye contact, start to lose interest in toys, and have delays in their sitting or crawling

Stages 2 to 4 can include:

• Stage 2, or rapid deterioration, between 1 and 4 years of age. Children may lose skills they already had and have slowed head growth, movement and coordination problems, unusual hand movements, a loss of communication, and cry for no reason

• Stage 3, or plateau, often starts between 2 and 10 years of age and can last for years. Problems with movement can continue and seizures may happen. But behavior, hand use, and communication may improve

• Stage 4, or late motor deterioration, usually starts after age 10 with a lowered ability to move, muscle weakness, and joint and spine problems. But understanding, communication, and hand skills can be stable or improve, and seizures may happen less often

Talk to your child's doctor right away if you start to notice any physical problems, loss of skills, or changes in their behavior, especially if they happen after your child has already reached any of their growth and development milestones.

Finding (diagnosing) Rett syndrome involves carefully watching and tracking your child's growth and development. Your doctor will also ask about medical and family histories and may recommend a blood test to do genetic testing for Rett syndrome. You can ask about genetic counseling to help you understand what the results may mean for your child and family.

While there's no cure for Rett syndrome, finding it early can help you get the care and support you and your child need.

Questions you can ask your doctor and healthcare team about Rett syndrome can include:

• What growth and development milestones should we be tracking and recording?

• How is Rett syndrome diagnosed?

• What symptoms of Rett syndrome should I look for, and could there be other causes for these symptoms?

• What kind of care and treatment is available?

• Are there specialists or other healthcare team members my child should see?

• Is there a support group we can join?

• What should I do if I or my child start to feel stressed or depressed?

• Where can I find more information and resources?

Congratulations!

You have successfully completed the program Rett Syndrome: What You Should Know About This Childhood Condition.

View Additional Materials on this topic that you may find useful:

Rett Syndrome

Rett Syndrome Diagnosis and Treatment

Living With Rett Syndrome

Rett Syndrome Fact Sheet