Rett syndrome | Better Health Channel
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Rett syndrome

Summary

Rett syndrome is a severe genetic disorder of the nervous system. It is usually only seen in girls and affects all body movement. It causes loss of speech and hand use. Girls with Rett syndrome need therapy to help them with movement and communication.

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Rett syndrome is a severe genetic disorder of the nervous system. It is usually only seen in girls and affects all body movement. It causes loss of speech and hand use. Girls with Rett syndrome need therapy to help them with movement and communication. Mutations in the gene MECP2, which is located on the X chromosome at Xq28, are a cause of Rett syndrome.

Symptoms of Rett syndrome


People are diagnosed with Rett syndrome if they display a certain set of symptoms in their first three or four years. These include:
  • a period of normal early development
  • slowed head growth
  • severe impairment of expressive language
  • loss of purposeful hand use, followed by repetitive hand movements such as clapping, tapping and wringing
  • shakiness of the upper body - this may extend to the legs and arms
  • unsteady walk (if they can walk). They walk with stiff legs and feet wide apart.

Other effects of Rett syndrome


Other effects of Rett syndrome that may be present, but are not necessary for diagnosis include:
  • breath holding, hyperventilation and air swallowing
  • spinal curvature, rigid (inflexible) muscles and contracted joints
  • seizures (fits)
  • bluish-red feet and legs because of poor circulation
  • teeth grinding and difficulty swallowing.

Four stages of Rett syndrome


Rett syndrome progresses through four stages. These are:
  • early onset (between six to 18 months).
  • rapid destructive phase - this occurs between the age of one and four years.
  • plateau stage - the symptoms get no worse or their intensity lessens. This stage can last for years.
  • late motor deterioration (loss of movement) - this starts between five and 25 years of age and can last for decades.

Treatment for Rett syndrome


Therapy can help slow the progress of movement loss. Therapy includes:
  • physiotherapy to prevent deformities of the joints and to improve movement
  • occupational therapy to improve hand use
  • horseback riding
  • music therapy
  • hydrotherapy - exercise in water.

Communication with a child with Rett syndrome


People with Rett syndrome have a keen desire to communicate. They can communicate through:
  • touch
  • pictures and letters
  • word boards
  • using eye gaze
  • switch-operated voice output devices.

Education for a child with Rett syndrome


People with Rett syndrome attend all types of schools. They need:
  • early exposure to toys and music
  • age-appropriate activities
  • a school environment that provides strong motivation.

Where to get help

  • Rett Syndrome Association of Australia Inc. Tel. 0418 561 796

Things to remember

  • In Australia, Rett syndrome affects about 1 in 15,000 females aged 5 to18 years
  • Development is usually normal until the age of 6 to 18 months
  • It is hard to know how much a person with Rett syndrome understands or how intelligent they are because of their communication problems
  • Rett syndrome wasn't recognised until 1983.

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This page has been produced in consultation with and approved by:

Rett Syndrome Association of Australia (RSAA) logo

(Logo links to further information)


Rett Syndrome Association of Australia (RSAA) logo

Fact sheet currently being reviewed.
Last reviewed: December 2012

Content on this website is provided for education and information purposes only. Information about a therapy, service, product or treatment does not imply endorsement and is not intended to replace advice from your doctor or other registered health professional. Content has been prepared for Victorian residents and wider Australian audiences, and was accurate at the time of publication. Readers should note that, over time, currency and completeness of the information may change. All users are urged to always seek advice from a registered health care professional for diagnosis and answers to their medical questions.


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Rett syndrome is a severe genetic disorder of the nervous system. It is usually only seen in girls and affects all body movement. It causes loss of speech and hand use. Girls with Rett syndrome need therapy to help them with movement and communication.



Content on this website is provided for education and information purposes only. Information about a therapy, service, product or treatment does not imply endorsement and is not intended to replace advice from your qualified health professional. Content has been prepared for Victorian residence and wider Australian audiences, and was accurate at the time of publication. Readers should note that over time currency and completeness of the information may change. All users are urged to always seek advice from a qualified health care professional for diagnosis and answers to their medical questions.

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