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 genetic mutation.
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.
It causes impaired social interactions, loss of language skills, and repetitive hand movements. Although many symptoms resemble those of an 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 growth slows and language and social 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. 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 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. Ongoing evaluation of the child’s physical and neurologic status is needed.
Genetic testing for the mutated gene 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.
The most helpful treatment of Rett syndrome is with a medical team approach that includes physical, occupational, and speech/language therapists. Most people with Rett syndrome need extensive support 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.
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.
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 resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
Individuals with Disabilities Education Act (IDEA): A United States law that makes available free appropriate public education to eligible children with disabilities and ensures special education and related services to those children
Americans with Disability Act: A United States law that prohibits discrimination based on disability
Section 504 of the Rehabilitation Act: A United States law that guarantees certain rights to people who have disabilities
International Rett Syndrome Foundation: An organization providing educational, support, community, and information resources for all people with Rett syndrome
