Rett syndrome is a rare neurodevelopmental disorder caused by a genetic problem that occurs almost exclusively in girls and affects development after an initial 6-month period of normal development.
Rett syndrome is caused by a mutation in a gene.
Symptoms include a decline in language and social skills after an initial period of normal development.
Diagnosis is based on a doctor's observation of the child’s early growth and development and genetic testing.
Treatment involves a multidisciplinary approach that is focused on the management of symptoms and educational support.
Rett syndrome is a rare neurodevelopmental and genetic disorder diagnosed most often in girls. Affected boys are identified much less often than girls because affected male fetuses often die before birth. Girls with Rett syndrome are usually born after a full-term, uneventful pregnancy and delivery.
Rett syndrome is caused by mutation of a gene or genes that are needed for brain development.
This syndrome causes impaired social interactions, loss of language skills, and repetitive hand movements. Although many symptoms resemble those of autism spectrum disorder, including difficulties with social skills and communication, Rett syndrome is a separate disorder.
Symptoms of Rett Syndrome
Girls with Rett syndrome appear to develop normally until some time between 6 months and 18 months of age.
When the disorder begins, head and brain growth slows and language skills deteriorate. As the disorder progresses, children typically display repetitive hand motions resembling washing or wringing. Purposeful hand movements are lost, walking is impaired, and trunk movements are clumsy. Social skills become impaired. Breathing problems may occur. Intellectual disability develops and is usually severe. Seizures often occur, and over time mobility may be affected. Later, children may develop scoliosis and often have heart problems. They may have slowed growth and tend to have difficulty maintaining weight.
Slight spontaneous improvements in social interaction and communication may occur in late childhood and early adolescence, but the language and hand behavior problems remain.
Diagnosis of Rett Syndrome
A doctor's evaluation
Genetic testing
Doctors make the diagnosis of Rett syndrome by observing symptoms during the child’s early growth and development and by following established criteria. They continually evaluate the child’s physical and neurologic status.
Genetic testing for the gene abnormalities and other genes is done to confirm the diagnosis.
Treatment of Rett Syndrome
Medical team support
Special education support
Management of symptoms
Treatment of seizures and hand behavior problems with antiseizure and behavioral medications
Possibly trofinetide
There is no cure for Rett syndrome.
Children with Rett syndrome are best supported by a medical team approach that includes physical, occupational, and speech/language therapists. Most people with Rett syndrome need extensive social and support services and specialized educational programs.
Doctors may give medications to control seizures and hand behavior problems, help relieve breathing problems, or to help problems with movement.
Trofinetide is a medication available for the treatment of Rett syndrome in adults and children who are 2 years of age and older. It helps the brain grow and develop and helps improve motor skills, communication, and social interactions.Trofinetide is a medication available for the treatment of Rett syndrome in adults and children who are 2 years of age and older. It helps the brain grow and develop and helps improve motor skills, communication, and social interactions.
Regular medical re-evaluations are needed to monitor the progression of scoliosis and to monitor heart problems.
Nutrition support may be needed to help affected children maintain their weight.
In the United States, the federal Individuals with Disabilities Education Act (IDEA) requires public schools to provide free and appropriate education to children and adolescents with Rett syndrome. Education must be provided in the least restrictive, most inclusive setting possible—that is, a setting where the children have every opportunity to interact with nondisabled peers and have equal access to community resources. The Americans with Disability Act and Section 504 of the Rehabilitation Act also provide for accommodations in schools and other public settings.
Prognosis for Rett Syndrome
The long-term prognosis, including expected life span, is variable. However, usually children survive well into adulthood with the support of a medical team. Many factors, including how well seizures are controlled, whether the person retains the ability to walk, and nutrition, affect the prognosis.
More Information
The following English-language resource may be useful. Please note that The Manual is not responsible for the content of this resource.
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