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. Typically, girls 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 Intellectual Disability Intellectual disability is significantly below average intellectual functioning present from birth or early infancy, causing limitations in the ability to conduct normal activities of daily... read more develops and is usually severe. Seizures Seizures in Children Seizures are a periodic disturbance of the brain’s electrical activity, resulting in some degree of temporary brain dysfunction. When older infants or young children have seizures, they often... read more often occur, and over time mobility may be affected. Children may develop scoliosis Scoliosis Scoliosis is abnormal curvature of the spine. Scoliosis can be present at birth or can develop during adolescence. Mild forms may cause only mild discomfort, but more severe forms can cause... read more 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.

Doctors make the diagnosis of Rett syndrome by observing symptoms during the child’s early growth and development. 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.

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.

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 drugs to control seizures, 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.

The following are English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.