Rett syndrome is a rare genetic disorder that affects the way the brain develops. It occurs almost exclusively in girls.
Most babies with Rett syndrome develop normally at first, but symptoms start to surface after 6 months of age. Over time, children with Rett syndrome have increasing problems with movement, coordination and communication that may affect their ability to use their hands, communicate and walk.
Although there's no cure for Rett syndrome, potential treatments are being studied. Current Rett syndrome treatment focuses on improving movement and communication and providing care and support for affected children and their families.
Babies with Rett syndrome are generally born after a normal pregnancy and delivery. Most grow and behave normally for the first six months. After that, signs and symptoms start to appear. The most pronounced changes generally occur at 12 to 18 months of age and occur over a period of weeks or months.
Rett syndrome symptoms include:
Stages of Rett syndrome
When to see a doctor
Rett syndrome is a genetic disorder, but in only a few cases is it inherited. Instead, the genetic mutation that causes the disease occurs randomly and spontaneously — often when sperm are formed and occasionally after the sperm and egg come together (conception).
Rett syndrome in boys
A very small number of boys have a less destructive form of Rett syndrome. Like girls with Rett syndrome, these boys are likely to live to adulthood but are still at risk of a number of health and behavior problems.
Rett syndrome is rare. It affects children of all races. The only known risk factor is having random genetic mutations known to cause the disease. In rare cases, inherited factors may play a role.
Complications of Rett syndrome include:
Preparing for your appointment
Your child's doctor will look for developmental problems at regular checkups. If your child shows any symptoms of Rett syndrome, she or he will likely be referred to a pediatric neurologist or developmental pediatrician for testing and diagnosis.
It's a good idea to be well prepared for your child's appointment. Here's some information that may help you get ready.
What you can do
Questions to ask might include:
What to expect from your doctor
Tests and diagnosis
Diagnosing Rett syndrome involves careful observation of your child's growth and development and answering questions about her or his medical and family history.
Your child may also have certain tests to help rule out conditions that can cause some of the same symptoms as Rett syndrome. Some of these include:
The tests your child needs depend on her or his particular signs and symptoms. They can include:
If your child's doctor still suspects Rett syndrome after considering other possibilities, he or she will use specific guidelines for diagnosis.
Official diagnostic criteria
The criteria required for a diagnosis of Rett syndrome include:
In addition to these core symptoms, children with Rett syndrome may have other signs and symptoms. Unless these core symptoms are present, however, your child does not have Rett syndrome.
Treatments and drugs
Treating Rett syndrome requires a team approach, including regular medical care; physical, occupational and speech therapy; and academic, social and job training services. The need for support doesn't end as children become older — it's usually necessary throughout life.
Treatments that can help children and adults with Rett syndrome include:
Because Rett syndrome is a severe and incurable disorder, parents understandably search for treatments that will improve their child's symptoms and quality of life. Alternative therapies that have been tried in children with Rett syndrome include:
There's not much evidence that these approaches are effective, though some parents who have used them report good results.
Coping and support
Children with Rett syndrome need help with most daily tasks, such as eating, walking and using the bathroom. This constant care can be exhausting and stressful for families. It's natural to feel overwhelmed at times. Talking about your problems can help relieve your feelings of stress. Arrange for outside help to ease your load.
Many families affected by Rett syndrome care for their children at home, often with the help of outside caregivers who can give parents a break. Other families choose residential care, especially when their children become adults.
Each family and each child with Rett syndrome is different. But connecting with other families facing the same problems can help you feel less alone. Online support and information are available from the International Rett Syndrome Association and other organizations.
There is no known way to prevent Rett syndrome. In most cases, the genetic mutation that causes the disorder occurs spontaneously. Even so, people who have a child or other family member with Rett syndrome may want to discuss genetic testing with their doctor.
Last Updated: 2010-06-18
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