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Rett Syndrome

By Stephen Brian Sulkes, MD

Rett syndrome is a neurodevelopmental disorder that affects development after an initial 6-month period of normal development in girls almost exclusively.

  • 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 focuses on the management of symptoms and educational support.

Rett syndrome is a rare neurodevelopmental and genetic disorder occurring almost only in girls that causes impaired social interactions, loss of language skills, and repetitive hand movements. Girls with Rett syndrome are usually born after a full-term, uneventful pregnancy and delivery. Although many symptoms resemble those of an autism spectrum disorder, including difficulties with social skills and communication, Rett syndrome is a separate disorder with a known inherited cause.

Girls with Rett syndrome appear to develop normally until some time between the age of at least 6 months and 4 years. 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. Intellectual disability develops and is usually severe. Seizures often occur, and over time mobility may be affected.


  • Doctor's evaluation

  • Genetic testing

Doctors make the diagnosis by observing signs and symptoms during the child’s early growth and development. Ongoing evaluation of the child’s physical and neurologic status is needed. Genetic testing is used to confirm the diagnosis.


  • Regular medical re-evaluations

  • Special education support

Slight spontaneous improvements in social interaction may occur in late childhood and early adolescence, but the language and behavior problems remain. Treatment is most helpful with a medical team approach which includes physical, occupational, and speech/language therapies. Most girls with Rett syndrome need extensive support and specialized educational programs.

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—where the children have every opportunity to interact with nondisabled peers and have equal access to community resources.

There is no cure yet identified, and long-term prognosis, including expected life span, is variable. Many factors, including how well seizures are controlled, whether the person retains the ability to walk, and nutrition, contribute to a better prognosis.

* This is the Consumer Version. *