What is Rett Syndrome? Rett Syndrome is a complex neurological disorder. It affects mainly girls. Although signs of Rett syndrome may not be initially obvious, it is present at birth and becomes more evident during the second year. Whilst there is variability in the severity of the disorder, most people with Rett syndrome are profoundly and multiply disabled and totally dependent on others for their needs throughout their lives.
Why is it called Rett Syndrome? A syndrome is a group of features that occur together to characterise a medical condition. The pattern of characteristics associated with Rett syndrome was first described in 1966 by the Austrian doctor, Professor Andreas Rett.
Why does Rett Syndrome occur? Rett syndrome in genetic in origin. It is probably the most common genetic cause of profound intellectual and physical disability in girls, occurring more commonly than 1 in 10,000 female births. Recently it has been detected that a large proportion of people with Rett syndrome have a mutation, or fault, on the MECP2 gene on the X chromosome.
How is Rett Syndrome diagnosed? Rett syndrome is now confirmed in most cases by carrying out a genetic test and also through clinical diagnosis - looking for signs and behaviours. Here are the typical signs:
-After appearing to make normal progress, a period of stagnation in development from about the end of the first year, which lasts until regression occurs
- A regression period when skills in speech and hand movement are reduced, which occurs between about 9 and 30 months
- Development of repetitive hand movements (wringing, patting, clapping, tapping, mouthing)
- Appearance of stiff or clumsy posture or gait
- A normal head circumference at birth but a slowing of head growth between 2 months and 4 years approximately
- Absence of other disease, syndrome or injury to account for above features
Other features often seen include:
- Breathing irregularities including hyperventilation, breathholding and air swallowing
- Epilepsy - over 50% of people with Rett syndrome have some form of epileptic seizure at some time
- With age, muscles become increasingly rigid, joint deformities and muscle wasting may occur
- Unsteady wide-based gait (about half of those with Rett syndrome achieve independent mobility)
- Development of scoliosis (curvature of the spine)
- Growth retardation
The above information was put together by the Rett Syndrome Association UK, who are a national organisation giving help, advice and support to parents, carers, siblings and professionals - in fact anybody involved with a child or adult who has Rett syndrome.
For further information, please visit: www.rettsyndrome.org.uk
This entry was posted
on Monday, October 8th, 2007 at 7:15 am and is filed under Articles