Rett syndrome (RTT) is a rare genetic neurological and developmental disorder that affects the way the brain develops. The condition was first reported in 1966 by Dr. Andreas Rett (an Austrian paediatric neurologist) but has only recently become widely recognized as a discrete disease entity.
It is a progressive inability to use muscles for eye, body movements and speech. It is one of the most common causes of mental difficulties in females.
Rett syndrome affects approximately one in 10,000 live female births. There is less than one per cent chance of having a second child with Rett syndrome.
It is rarely seen in males. Males have a different genetic combination from females. Boys who have the genetic mutation that causes Rett syndrome are affected in devastating ways. Most of them die before birth or in early infancy.
Rett syndrome is caused by a change in the DNA (mutation) named MECP2 that is found on the X chromosome.
Presentation of the Disease
Most babies with Rett syndrome seem to develop normally at first, but after about six months of age, they lose skills they previously had – such as the ability to crawl, walk, communicate or use their hands.
Over time, children with Rett syndrome have increasing problems with the use of muscles that control movement, coordination and communication. Rett syndrome can also cause seizures and intellectual disability.
The most pronounced changes generally occur at 12 to 18 months of age, suddenly, or over a period of weeks or months.
Seizures occur in about half of cases. The girls typically survive into adulthood, but are at risk of sudden unexplained death.
Rett syndrome is described in four stages, although symptoms will often overlap between each stage. Signs and symptoms of Rett syndrome can be subtle in the early stages. If you begin to notice physical problems or changes in behavior of your child after apparently normal development then you should consult your doctor.
If your pediatrician suspects Rett syndrome after evaluation, he or she may recommend a genetic test (DNA analysis) to confirm the diagnosis.
Although there’s no cure for Rett syndrome, potential treatments are being studied. Current treatment focuses on improving movement and communication and providing care and support for children and adults with Rett syndrome and their families.
Treating Rett syndrome requires a multi-disciplinary team approach. Children with Rett syndrome need help with most daily tasks, such as eating, walking and using the bathroom. This constant care can be exhausting and stressful for families. Families need intense support as well.
Survival is relatively good and patients are usually over the age of 10 and 70 per cent are 35 years old. This prolonged survival implies providing multi-disciplinary care over the long term. There is a high incidence of unexplained sudden death in adulthood.
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