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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.
Rett syndrome 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 symptoms, especially if started early.
What are the symptoms 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.
They can deteriorate quickly between the ages of 1 and 4, but then they are likely to stablise for a few years. As they grow up, they are likely to be irritable, cry a lot and have autistic like features. They may lose their hand skills, language ability and their ability to coordinate walking, and they may develop repetitive hand movements such as wringing and squeezing or clapping and tapping.
Other symptoms of Rett syndrome are:
- slow head growth
- little interest in social interaction
- breathing problems
- teeth grinding
- not responding normally to pain
- disturbed sleep
- intense eye contact
- abnormal muscle tone
- small hands and feet
- anxiety
- tummy problems
How is Rett syndrome diagnosed?
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.
How is Rett syndrome managed?
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. Medicines 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
