What is it?
Rett Syndrome is a serious neurodevelopmental disorder of the grey matter in the brain. Children with it develop normally at first, then between 6 and 18 months begin a serious decline. The child loses purposeful use of their hands and the ability to speak. There are distinctive hand movements such as wring and washing. Motor functions deteriorate (apraxia) affecting all movement including walking, eye movement and speech.
People with Rett Syndrome often have seizures, intellectual disability and gastrointestinal disorders.
The condition is almost exclusively found in females. When the signs of this disorder are first noted they can be confused with those of Angelman Syndrome, cerebral palsy and autism.
What causes it?
Rett Syndrome is caused by mutations in a specific gene on the X chromosome; in 95% this is a new mutation and not inherited from either parent.
This syndrome leads to many medical problems and so a wide range of treatments from surgery to medication to therapy will probably be necessary. Occupational Therapy can be very helpful in enabling the child to perform everyday skills such as dressing and eating. Physiotherapy can help improve mobility. Music Therapy can help with emotional and social skills. Speech-Language Therapy can help with communication and eating.
Because scientists have identified the specific gene causing the condition, there is hope that one day it will be possible to cure Rett Syndrome.
The condition has wide ranging effects and so comprehensive assessment of the needs of the child is essential.
Looking down the road
People with Rett Syndrome need ongoing support and can live to 40 years or more.