Rett syndrome is a condition that affects the nervous system , causing intellectual and physical disability. While it is a life-long condition with no cure, treatment and therapies can help manage its symptoms, especially if started early.
What is Rett syndrome?
Rett syndrome is a rare genetic disorder caused by a mutation in a gene on the X chromosome. It is named after Andreas Rett, the doctor who originally described it. The disorder usually results from a random genetic mutation rather than being inherited. It mainly affects girls.
Symptoms or signs of Rett syndrome
Rett syndrome can cause different symptoms, ranging from mild to severe, that can show up at different ages in different children. Most children show the first signs of the condition between 6 and 18 months of age.
Most children with Rett syndrome have:
- slow head growth
- repetitive hand movements, such as clapping or tapping
- problems with speech and communication
- unsteady walking
- little interest in social interaction
Some children have problems with feeding or breathing, muscle weakness or contractions, and seizures. Some children also develop other problems such as anxiety, sleep disturbances and gastrointestinal problems.
Rett syndrome diagnosis
Children are diagnosed with Rett syndrome based on their symptoms. This can be difficult as children can have different symptoms. Also, some symptoms are the same as those caused by other conditions, such as Angelman syndrome and Prader-Willi syndrome. Genetic testing can be done to confirm the diagnosis.
Living with Rett syndrome
Treatment can help manage the symptoms of Rett syndrome.
Therapies such as physiotherapy, occupational therapy and hydrotherapy can help improve movement, and various devices and methods might help with communication. Medications may help with symptoms such as seizures, or difficulties with breathing or digestion. In some cases, surgery might be recommended for problems such as deformities of the feet or spine.
Because it was described relatively recently, not a lot is known about how children with Rett syndrome progress into middle age and beyond.
Where to go for help
Rett Syndrome Association of Australia supports people with Rett syndrome and their families. And you can read more about genetic conditions in general and genetic counselling.
The Raising Children Network’s Disability Services Pathfinder can help you understand how to use the health and disability service system.
You might be able to get financial support through the NDIS or the Better Start for Children with Disability initiative, depending on where you live.
Last reviewed: November 2016