Rett syndrome
Rett Syndrome is a genetic disorder primarily seen in girls. Since the discovery of a genetic mutation there have also been a few males with the disorder. There is usually a typical infant stage until 6-18 months old. A slowdown or stagnation of skills begins followed by the inability to control her hands, a loss of communication skills and a slowing down in the rate of head growth. Other signs include: crying inconsolably, withdrawal or isolation, disorganized breathing and seizures, teeth grinding, difficulty chewing, apnea and hyperventilation.
The symptom most likely to cause difficulties with those who suffer from Rett Syndrome is apraxia which is an inability to perform motor functions. Long-term care is usually needed.
Why is Rett Syndrome confused with autism?
In the early stages there are frequently repetitive movements that are frequently seen in those who have autism. Because Rett Syndrome is not seen as frequently a misdiagnosis of autism may occur.
What causes Rett Syndrome?
Rett syndrome is caused by mutations in the MECP2 gene, which is found on the X chromosome. Because the MECP2 gene does not function properly in those with Rett syndrome, insufficient amounts or structurally abnormal forms of the protein are formed. The absence or malfunction of the protein is thought to cause other genes to be abnormally expressed, but this hypothesis has not yet been confirmed. Rett Syndrome is thought to be a sporadic rather than inherited condition.
