It is thought that Rett syndrome happens in about one in every 10,000 girls. It rarely affect boys, however if boys
are affected they are always affected far more severely than girls. The cause is due to a genetic abnormality, called a ‘mutation’.
This abnormality or mutation is usually found on one of the sex chromosomes – the X chromosome. The most common mutation
is called the MECP2 mutation. A different and much less commonly found genetic mutation is nearly always seen in those children
with Rett syndrome who have a very severe type of epilepsy.
Symptoms
Girls with Rett Syndrome may show normal development for the first six or more months of their life. Then between 6 to
30 months of age, their development slows down and may even go backwards. They become less interested in play, lose the ability
to speak and may become irritable and scream for no obvious reason. They stop using their hands purposefully and they may,
instead, begin to move their hands in a repetitive way, often with hand-wringing or hand-washing movements.
Epilepsy eventually happens in about 70 per cent of those children. It usually begins after the age of two years but may
begin in the first year of life.
The seizures may be of various types including generalised seizures (where the child goes blank), myoclonic (jerk) seizures
and tonic seizures (where the child stiffens).
A particular type of seizure called infantile spasms may also happen and this is usually in the first year of life in girls
with the less common genetic mutation. Often more than one seizure type is present. Frequently, girls with Rett syndrome have
periods of rapid or slow breathing. These periods are sometimes associated with faints, which can be mistaken for epileptic
seizures. Some girls will also have a disturbance of their heart rate and rhythm. When boys are affected, the epileptic seizures
nearly always start within the first few weeks or months of life and are often extremely difficult to treat.
Diagnosis
The discovery of the genetic mutation in Rett syndrome has made it much easier to diagnose the condition. However, it is
obviously important for doctors to think about the condition in the first place so that the blood test can then be done to
look for the genetic mutation. This common mutation is found in about 80 per cent (eight out of every 10) girls with Rett
syndrome.
Treatment
Treatment of this condition can be very difficult. Anti-epileptic drugs are often used, but it is a trial and error situation
till it is established which drug works best for that individual
Outlook
The seizures usually become less of a problem in adolescence and early adult life but only occasionally will the seizures
stop completely. With Rett syndrome there is usually increasing difficulty with walking and they may eventually not be able
to walk. Many older children and teenagers will need special attention to prevent scoliosis (bending or curvature of the spine).
Feeding may also be a problem, particularly in early childhood and some children will need to be fed through a nasogastric
tube (tube inserted through the nose) or even a feeding gastrostomy tube (tube inserted directly into the stomach).
The life-span of people with Rett syndrome is shortened, but most lives into early and middle adulthood. Unfortunately,
most boys with Rett Syndrome will have a very shortened life-span.
For help and support try
Rett Syndrome Association UK, www.rettsyndrome.org.uk,
Contact a Family, www.cafamily.org.uk
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