Summary

  • Rett syndrome is a severe disorder of the nervous system.
  • In Australia, Rett syndrome affects one female in 9,000 live female births. 
  • In general, development appears normal in a child with Rett syndrome until the age of 6 to 18 months.
  • The degree of disability, be it intellectual or physical, can vary widely among people with Rett syndrome.
Rett syndrome is a severe disorder of the nervous system caused, in most cases, by a mutation in the MECP2 gene. The disorder is almost only seen in females and affects all body movement. It may cause loss of speech and hand use. Females with Rett syndrome need therapy to help them with movement and communication.

Diagnosis of Rett syndrome

A diagnosis of Rett syndrome is based on meeting a defined set of symptoms or criteria. The most recent revision to the diagnostic criteria was made in 2010. A genetic test which reveals a mutation in the MECP2 gene is used to confirm a diagnosis already determined or suspected by a medical professional. However, the gene mutation alone is not enough to confirm Rett syndrome, as it is also seen in other disorders.To date, five per cent of diagnosed cases do not have a MECP2 gene mutation. 

Types of Rett syndrome

The two broad classifications of Rett syndrome are ‘typical’ or ‘classic’ Rett syndrome and ‘atypical’ or ‘variant’ Rett syndrome.

Typical Rett syndrome

The five criteria that must all be met for a person to receive a diagnosis of ‘typical’ or ‘classical’ Rett syndrome are: 

  • a period of regression during the first five years of life, followed by recovery or stabilisation
  • partial or complete loss of acquired purposeful hand skills
  • partial or complete loss of acquired spoken language (loss of acquired language is based on best acquired language skill. For example, if a child learned to babble and then lost that ability, it would be considered a loss of acquired language)
  • gait abnormalities, such as an impaired ability to coordinate walking or an absence of the ability to walk 
  • stereotypic repetitive hand movements such as hand wringing or hand squeezing, clapping or tapping, mouthing and hand washing or hand rubbing.

Atypical Rett syndrome

Certain criteria must be met for a person to be given a diagnosis of ‘atypical’ or ‘variant’ Rett syndrome. These include having a period of regression followed by recovery or stabilisation, at least two of the four essential symptoms required for a diagnosis of ‘typical’ or ‘classical’ Rett syndrome, and at least five of the common 11 symptoms, which include: 

  • breathing disturbances while awake 
  • inappropriate laughing or screaming spells
  • bruxism (teeth grinding) while awake
  • diminished response to pain
  • sleep disturbances
  • intense eye communication (‘eye pointing’)
  • abnormal muscle tone
  • growth retardation
  • small hands and feet
  • cold or bluish hands or feet 
  • scoliosis (curvature of the spine) or kyphosis.

Stages of Rett syndrome

Four stages have been suggested to describe the progression of Rett syndrome over time. They are: 

  • early onset (stage 1) – between the ages of 6 and 18 months, development slows, developmental milestones may not be met
  • rapid destructive phase (stage 2) – loss of acquired skills. Generally occurs between the age of one and four years
  • plateau period (stage 3) – symptoms get no worse or their intensity lessens. This stage can last for years
  • late motor deterioration (loss of movement) (stage 4) – begins between five and 25 years of age, can last for decades but may not occur in all individuals.

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)
  • stimulation.

Communication with a child with Rett syndrome

Children with Rett syndrome have a keen desire to communicate. Method (s) may include: 

  • touch
  • pictures and letters
  • word boards
  • their eyes and via the use of computer-related devices such as My Tobii and iPad
  • switch-operated voice output devices.

Education for a child with Rett syndrome

Most children with Rett syndrome attend special schools, some a mixture of special and mainstream, and a few just mainstream. They need: 

  • early exposure to toys and music
  • age-appropriate activities
  •  school environment that provides strong motivation.

Where to get help

More information

Genes and genetics

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A-Z of genetic conditions

Content Partner

This page has been produced in consultation with and approved by: Rett Syndrome Association of Australia (RSAA)

Last updated: March 2019

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