Rett syndrome is a rare neurological disorder that almost exclusively affects females. A random gene mutation causes it. Almost all patients need caregiver support their whole life. Many children with Rett syndrome live a high quality of life into adulthood.
Rett syndrome is a rare neurodevelopmental (brain and nerve) disorder. Children with Rett syndrome appear to develop typically in the first year of life, but they lose the ability to use their hands purposefully. Other development then slows as they get older.
Rett syndrome causes developmental challenges throughout childhood. As children get older, these challenges stop progressing but do not go away. People with Rett syndrome may have challenges throughout their lives, although they can live to middle age or have close to a typical lifespan.
Rett syndrome almost exclusively affects females. About 1 in every 10,000 to 15,000 baby girls are born with Rett syndrome. It affects babies of all racial and ethnic groups.
Rett syndrome is a genetic syndrome. It occurs because of a mutation (change) in the MECP2 gene. This mutation occurs spontaneously (randomly). It is not usually inherited. The chance of passing down Rett syndrome from a healthy parent to a child is less than 1%.
Babies may not show any signs of Rett syndrome in the first few months or years of life. As they get older, signs of developmental delays or other symptoms become more apparent. Rett syndrome symptoms primarily affect children’s:
About 85% to 90% of people who have Rett syndrome have muscle weakness and slowed growth. These symptoms often occur because children have difficulty swallowing or chewing. Swallowing problems can lead to not eating enough.
Other symptoms of Rett syndrome include:
Rett syndrome progresses in four stages. Children show slightly different symptoms during each stage. Not everyone goes through every stage. For example, some people with Rett syndrome are never able to walk.
Rett syndrome stages are:
Usually, parents first notice symptoms of Rett syndrome during a child’s early years. Healthcare providers who suspect that a child may have Rett syndrome use a genetic test to look for the MECP2 gene mutation. This genetic screening is a blood test. It doesn’t require any special preparation or a hospital stay.
Rett syndrome treatment varies based on specific symptoms. For example, children who have seizures may take antiseizure medications. For difficulty with motor skills and language, children may benefit from:
Your child may need care from other specialists, such as:
Some Rett syndrome symptoms can increase a child’s risk of health complications. For example, swallowing problems or breathing issues can lead to a risk of aspiration pneumonia. This type of pneumonia occurs when food, saliva or other liquids go into the lungs instead of the stomach.
Children who have scoliosis may also develop lung problems. Uncontrolled seizures also can increase the risk of health complications.
There is no cure for Rett syndrome. When children receive appropriate treatment, they often manage their symptoms effectively into adulthood.
Because a random gene mutation causes Rett syndrome, there is nothing parents can do to prevent it. However, if you have a family member with Rett syndrome, you may ask your healthcare provider about genetic testing. Genetic counselors can guide prospective parents about health risks and possible treatment options.
The long-term effects of Rett syndrome can vary significantly. Almost all people with Rett syndrome will need caregiver support for their whole life.
Many people with Rett syndrome live a high quality of life well into their 40s and beyond. For some people, other health complications may shorten life expectancy.
Some neurological disorders share similar symptoms with Rett syndrome. Some of these conditions include:
You may want to ask your healthcare provider:
A note from Cleveland Clinic
Rett syndrome is a rare neurological disorder. Many children show few to no symptoms in their first year of life. Then development slows as a child gets older. The severity of Rett syndrome symptoms can vary significantly. Almost all patients need caregiver support throughout their entire life. With treatment, many patients learn to manage their symptoms and live a high quality of life into adulthood. As knowledge and support about the disorder grow, more people with Rett syndrome have close to typical life expectancy.
Last reviewed by a Cleveland Clinic medical professional on 05/06/2021.
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