Rett syndrome is a problem with the development of the nervous system. It is most common in girls. Boys with Rett syndrome are usually stillborn or die shortly after birth.
Many people with Rett syndrome live into adulthood. Most have severe disabilities, including an inability to talk or walk.
Rett syndrome is most often caused by nonhereditary mutations on a specific gene on 1 X chromosome.
Females have 2 X chromosomes. Males have 1 X and 1 Y chromosome. Males usually die from Rett syndrome because they lack a second normal X chromosome. The second normal X chromosome in girls may provide some protection.
In Rett syndrome, the mutated gene affects methyl cytosine binding protein 2 (MECP2). When it is mutated, there is a deficiency of this important protein. Not everyone with the MECP2 mutation will have Rett syndrome. Some females may be normal or have only mild symptoms.
It is not clear what causes the Rett gene to mutate. Rett syndrome is usually nonhereditary. This means it does not run in families.
There are no known risk factors for Rett syndrome.
Children with Rett syndrome will start developing normally. They will smile, move, and pick items up with their fingers. But by 18 months of age, the developmental process seems to stop or reverse itself. The age of onset and the severity of symptoms are different from person to person. There are 4 stages. Symptoms for each stage include:
Stage I: Early Onset Stage
- Occurs at age 6-18 months
Can last for months and include:
- Less eye contact with parents
- Less interest in toys and play
- Slow head growth
- Calm, quiet baby
Stage II: Rapid Destructive Stage
- Occurs at age 1-4 years
Can last weeks to months and include:
- Small head
- Developmental/intellectual disability
- Inability to purposely use hands
- Loss of previous ability to talk
- Repeatedly moving hands to mouth
- Other hand movements, such as clapping, tapping, or random touching
- Hand movements stop during sleep
- Holding breath, gaps in breathing, taking rapid breaths
- Irregular breathing that stops during sleep
- Teeth grinding
- Laughing or screaming spells
- Decreased social interactions
- Trouble sleeping
- Cold feet
- Trouble crawling or walking
Stage III: Plateau Stage
- Occurs at preschool through school years
Can last for years and include:
- Difficulty controlling movement
- Less irritability and crying
- Communication that may improve
Stage IV: Late Motor Deterioration Stage
- Occurs at age when stage III ceases, can be anywhere from age 5-25
Can last up to decades and include:
- Decreased ability to walk
- Muscle weakness or wasting
- Stiffness of muscles
- Spastic movements
- Curvature of the spine
- Breathing trouble and seizures that often decrease with age
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You will be asked about your child’s symptoms and medical history. A physical and neurological exam will be done. Genetic testing can often confirm the diagnosis. Your doctor may also do tests to rule out other conditions, like autism.
Some symptoms of Rett syndrome are similar to those of autism. Children with autism, who are more often boys, do not maintain person-to-person contact. Most girls with Rett syndrome, though, prefer human contact to focusing on inanimate objects. These differences may give the first clue in diagnosing Rett syndrome.
Physical and developmental symptoms can often lead your doctor to a Rett syndrome diagnosis.
Your child's bodily fluids may be tested. This can be done with blood tests.
Your child's brain may be tested. This can be done with:
- Electroencephalogram (EEG)
There is no cure for Rett syndrome. People with this condition need to be monitored for problems of the bones and heart.
Treatment aims to control symptoms and includes:
Medications that may help with symptoms include:
- Anticonvulsants to control seizure activity
- Stool softeners or laxatives if constipated
- Drugs to help with breathing
- Drugs to ease agitation
- Drugs to relieve muscle spasms
To support nutrition, your doctor may recommend:
These therapies will help manage physical and general care challenges:
- Occupational therapy—to help those learn to perform daily activities, such as dressing and eating
- Physical therapy—to help with improvement coordination and movement
- Speech therapy aids—to build communication skills
- Social workers—to help a family cope with caring for a child with Rett syndrome
Techniques for Limiting Problem Behaviors
Keeping a diary of your child's behaviors and activities helps determine the cause of agitation. The following may help to prevent or control behavior problems:
- Warm baths
- Soothing music
- Quiet environment
There is no way to prevent Rett syndrome. If you have questions about the risk of Rett syndrome in your family, talk to a genetic counselor.
International Rett Syndrome Foundation
National Institute of Neurological Disorders and Stroke
Ontario Rett Syndrome Association
Kazantsev AG, Thompson LM. Therapeutic implication of histone deacetylase inhibitors for central nervous system disorders. Nature Review Drug Discovery. 2008;7:854-868.
Rett syndrome. EBSCO DynaMed website. Available at: http://www.dynamed.com/topics/dmp~AN~T115304/Rett-syndrome. Accessed January 28, 2021.
Rett syndrome fact sheet. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/disorders/rett/detail_rett.htm. Accessed January 28, 2021.
Last reviewed March 2020 by EBSCO Medical Review Board Chelsea Skucek, MSN, BS, RNC-NIC Last Updated: 01/28/2021