Rett syndrome

What is Rett syndrome?#

Rett syndrome is a severe condition of the nervous system. It is almost only seen in females and affects all body movement. It may cause speech problems, such as an inability to learn to speak or a loss of speech, difficulty walking or loss of the ability to walk, and loss of purposeful hand use. People with Rett syndrome need a range of therapies to help them with movement and communication.

What causes Rett syndrome?#

Rett syndrome is caused by a change in the MECP2 gene, which is thought to disrupt the normal function of neurons and other cells in the brain. In most cases there is no family history of the condition, and the genetic change arises randomly in one individual.

How is Rett syndrome diagnosed?#

There are two broad types: “typical” (or “classic”) Rett syndrome and “atypical” (or “variant”) Rett syndrome.

A diagnosis of typical Rett syndrome involves a period of regression (returning to a less developed state) during the first five years of life, followed by recovery or stabilisation, together with:

• partial or complete loss of purposeful hand skills (learned movements such as grasping, holding or self-feeding)
• partial or complete loss of language skills
• walking (gait) abnormalities, such as an unsteady walk or an inability to walk
• repetitive hand movements, such as wringing, squeezing, clapping, tapping, mouthing, or washing and rubbing movements

A diagnosis of atypical Rett syndrome requires a period of regression during the first five years of life, followed by recovery or stabilisation, plus at least two of the four features above. Other features that can support an atypical diagnosis include scoliosis (curvature of the spine) or kyphosis, breathing disturbances while awake, inappropriate laughing or screaming spells, bruxism (teeth grinding) while awake, a reduced response to pain, sleep disturbances, intense eye communication (“eye pointing”), abnormal muscle tone, slowed growth, small hands and feet, and cold or bluish hands or feet.

Genetic testing#

A genetic test that reveals a change in the MECP2 gene is used to confirm a diagnosis that a medical professional has already made or suspects. The genetic test on its own is not enough to confirm Rett syndrome, because this gene change is also seen in other conditions.

The stages of Rett syndrome#

Rett syndrome generally progresses through four stages:

• Stage 1 – early onset. Between about 6 and 18 months, development slows and some developmental milestones may not be met.
• Stage 2 – rapid regression. Usually between one and four years of age, with loss of acquired skills such as purposeful hand use, speech and walking. Other symptoms may also appear.
• Stage 3 – plateau. Abilities stabilise and the intensity of symptoms may lessen. This stage can last for years.
• Stage 4 – late motor deterioration. This can begin between 5 and 25 years of age and last for decades, though it does not occur in everyone. It involves reduced movement, muscle weakness and joint stiffness.

Treatment and therapies#

There is no cure for Rett syndrome, but therapy can help slow the loss of movement. Approaches include:

• physiotherapy to prevent joint deformities and improve movement
• occupational therapy to improve hand use
• music therapy
• hydrotherapy (exercise in water)
• horseback riding and other environmental enrichment activities

Drug trials, including those of the investigational compound Anavex 2-73, have been underway, with children and adults who have Rett syndrome and their families taking part at trial centres.

Communicating with a child who has Rett syndrome#

Children with Rett syndrome have a keen desire to communicate. Methods may include:

• touch
• pictures, letters and word boards
• eye gaze, used with computer-based or tablet devices
• switch-operated voice output devices

Education#

Most children with Rett syndrome attend specialist schools; some attend a mix of specialist and mainstream school, and some attend mainstream school only. They benefit from a school environment that provides strong motivation, early exposure to toys and music, and activities that suit their age and stage of development.

Genetic counselling and support#

If your child has been diagnosed with Rett syndrome, it may help to speak with a genetic counsellor. Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you understand Rett syndrome, what causes it, how it is inherited, and what the diagnosis means for your child’s health and development. They are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs.

Support groups can also connect you with other individuals and families affected by Rett syndrome, and may organise gatherings for people living with the condition.

Where to get help#