Rett Syndrome

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KEY POINTS

• Rett syndrome is a very rare disorder in which a baby develops normally for the first 6 months, then starts to have problems such as trouble with moving, talking and understanding, and breathing.
• A treatment plan for Rett syndrome may include medicine for some of the symptoms and physical and speech therapy to improve skills.

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What is Rett syndrome?

Rett syndrome is a very rare disorder in which a baby develops normally for the first 6 months before having symptoms. It almost always affects females.

Rett syndrome may also be called a pervasive developmental disorder, because a child who has it does not develop normally in several ways.

Rett syndrome is a lifelong, disabling condition. Most women with Rett syndrome will need a wheelchair and most live at least into their 40s.

What is the cause?

Rett syndrome is caused by problems with the MECP2 gene. Because of the damage to this gene, some parts of the brain tend to be smaller than normal in girls with Rett syndrome. What damages this gene is not known.

What are the symptoms?

Rett syndrome develops in stages. From birth to about 6 months of age, the development and head size of a child with Rett's appear normal. Between 6 to 18 months of age, your child may start having symptoms such as:

• Slowed head growth
• Repeated hand movements such as hand washing, hand wringing, or clapping, but not able to use hands to grab or pick things up
• Loss of social skills, for example, avoiding eye contact and withdrawing
• Jerky body movements and an unsteady walk or walking on toes
• Trouble talking or understanding what others say
• Very fast breathing or stopping breathing for short periods
• Seizures

How is it diagnosed?

Your healthcare provider will ask about your child's development at each well child visit. Tell your provider about any concerns you have and any behavior that seems unusual. As a parent or caregiver, you are usually the first to notice unusual behaviors in your child. Do not ignore problems, thinking that your child is just a little slow and will "catch up." Early treatment helps reduce symptoms. It increases your child's ability to grow and learn new skills.

Your child's healthcare provider will examine your child and ask about your child's symptoms and your family history of any medical and mental problems. A simple blood test can confirm the diagnosis. Your child's healthcare provider may recommend genetic testing.

If your healthcare provider thinks your child may have Rett syndrome, he or she will refer you to specialists such as a psychologist, psychiatrist, speech therapist, or neurologist. They can do more testing and advise you about treatment. Your school district may also provide testing services for your child.

How is it treated?

A treatment plan for Rett syndrome may include medicine for some of the symptoms and physical and speech therapy to improve skills.

In many cases, families are unable to care for a child with Rett syndrome without help. In some cases, home healthcare may enable the child to keep living at home. In other cases, the child may be placed in a supervised living facility.

How can I help my child?

• Your child’s therapist can help you learn ways to work with your child at home.
• Look for your child’s strengths. No one knows what your child may be able to do in time, so don’t set your expectations too low. Encourage your child to try new things.
• Be patient with your child’s communication. She may not be able to put her needs and feelings into words. Watch your child’s body language for signs that she is upset or that something is wrong.
• Join a support group. Support groups can help by sharing common concerns and solutions to problems with other families in the same situation. You can find these services through your healthcare provider, schools, therapy programs, and local and national support organizations.
• See a mental health professional to help you cope with your stress.
• Learn as much as you can about Rett syndrome. For more information, contact:
• The International Rett Syndrome Foundation
  https://www.rettsyndrome.org/
  800-818-7388