What is Rett syndrome?

Rett syndrome is a rare genetic disorder caused by a mutation (change) in a gene on the X chromosome. It mainly affects females.

Rett syndrome affects the nervous system, causing intellectual and physical disability. While it is a lifelong condition and currently has no cure, treatments and therapies can help manage symptoms, especially if started early.

What are the symptoms of Rett syndrome?

Rett syndrome can cause symptoms ranging from mild to severe, which can begin at different ages in different children. Most children show the first signs of the condition between 6 and 18 months of age. Children are usually diagnosed around 3 years of age.

Some key features of Rett syndrome are:

• speech problems
• problems with fine motor skills (being able to use your hands)
• repetitive hand movements — such as wringing, squeezing, clapping or tapping
• problems with walking

Children with Rett syndrome may also have slow head growth, small hands and feet, and abnormal muscle tone. They can also experience breathing problems and teeth grinding.

People with Rett syndrome may also:

• respond in an unusual way to pain
• have disturbed sleep
• maintain intense eye contact
• show little interest in social interaction
• have anxiety

CHECK YOUR SYMPTOMS — Use the Symptom Checker and find out if you need to seek medical help.

What causes Rett syndrome?

Rett syndrome usually results from a random genetic mutation — a new change that is not passed down from a parent.

When should I see my doctor?

If you are worried that your child is not reaching language and movement milestones at an appropriate age, you may decide to see a doctor. If you have taken your child to the doctor before, they can help compare your child's development with previous visits.

How is Rett syndrome diagnosed?

Children are diagnosed with Rett syndrome based on their symptoms. This can be difficult as not all children have the same symptoms.

Genetic testing can confirm the diagnosis.

ASK YOUR DOCTOR — Preparing for an appointment? Use the Question Builder for general tips on what to ask your GP or specialist.

How is Rett syndrome treated?

Treatment can help manage the symptoms of Rett syndrome.

Therapies such as physiotherapy, occupational therapy and hydrotherapy can help improve movement. Devices and methods are available to help with communication.

Medicines may help with seizures, breathing difficulties or digestion problems.

In some cases, surgery might be recommended for problems with the feet or spine.

Nutrition

People with Rett syndrome may have problems with their teeth and mouth. This can make it hard to eat enough, and children may need help with:

• changing food texture
• helping with positioning during mealtimes
• using special utensils

Some people with Rett syndrome need a feeding tube to get enough nutrition.

Living with Rett syndrome

Around 6 out of 10 children with Rett syndrome live into middle age.

People with Rett syndrome will need lifelong personal care with assistance and equipment. Each person's needs depend on their individual symptoms.

Your child may be eligible for early intervention support through the National Disability Insurance Scheme (NDIS), which can help you access supports.

What are the complications of Rett syndrome?

Rett syndrome can lead to:

• seizures
• scoliosis
• feeding problems
• constipation

Can Rett syndrome be prevented?

Currently, there is no known way to prevent Rett syndrome. However, the complications of Rett syndrome can be prevented by getting treatment and support early.

FIND A HEALTH SERVICE — The Service Finder can help you find doctors, pharmacies, hospitals and other health services.

Resources and support

• The Rett Syndrome Association of Australia supports people with Rett syndrome and their families.
• Visit the Centre for Genetics Education to read more about genetic conditions and genetic counselling.
• Raising Children Network can help you understand how to use the health and disability service system.
• Find out whether you are eligible for financial support through the NDIS.
• See The Kids Research Institute's graphic on 'Uptime' - activities in standing and walking.

Languages other than English

• The Kids Research Institute has information on scoliosis and nutrition in Rett syndrome available in some community languages.
• Raising Children Network has information on developmental delay available in community languages.

Information for Aboriginal and/or Torres Strait Islander peoples

• The Our Right to Learn and Play story talks about how to get support at school for First Nations children with disability.
• NACCHO has a series of videos about First Nations people, disability and the NDIS.