Learn About Rett Syndrome
Rett Syndrome was first described by Austrian pediatric doctor, Andreas Rett in 1966. Rett discovered that there were clinical features, by which to classify children with Rett Syndrome. This disorder most often affects girls. This disparity is because boy fetuses with Rett Syndrome, do not often survive this disorder.
What is Rett Syndrome?
Rett Syndrome is defined as a neuro-developmental disorder. It is classified as autism, type of disorder. Rett Syndrome is caused by a mutated gene. This gene is on the X chromosome, and can arise somewhat sporadically. This process is believed to occur through germ-line mutations.
Looking at the clinical features, Andreas Rett discovered, one can get a clue as to how this syndrome is determined. One of these features is a marked deceleration in the growth of one's head. If this feature is suspected in your child, you should check with your pediatrician. Your pediatrician will able to fully look at this and any other features of Rett Syndrome.
Another of the features is possessing small hands and feet. This means that the hands and feet are smaller than what is considered normal. Children with Rett Syndrome, often exhibit repetitive hand motions. This is almost a nervous motion that they can't seem to help. Some of them may even, mouth words or wring their hands at the same time.
When girls, specifically, are diagnosed with Rett Syndrome, certain features are found in them. Girls tend to experience gastrointestinal problems when they have this syndrome. And up to 80% of girls will experience seizures, as well.
Are their specific symptoms for Rett Syndrome?
There are some symptoms commonly experienced by those who have Rett Syndrome. Doctors typically look at these symptoms, along with clinical features, in determining this disorder. One of the prevalent symptoms, is the lack of verbal skills. This is not simply a delay, but in essence, no ability to speak.
Another common symptom is not being able to move on their own. Approximately, 50% of females with Rett Syndrome are non-ambulatory. Many with Rett Syndrome also are diagnosed with scoliosis. Scoliosis is the existence of a curvature of the spine. Because of many of these symptoms are related to autism, specialists believe Rett is also connected to autism.
How is Rett Syndrome treated?
Treatment for this syndrome can take on various forms. Although there are common clinical features, and symptoms suffered by this disorder, each case is specific. Therefore treatment would be specialized for each individual patient. For those who have gastrointestinal problems, these issues would be addressed medically. Sufferers with scoliosis would be monitored to make sure their conditions did not worsen.
Another popular way to treat Rett patients is through communication skills practice. This is done in the hope of providing some measure of normality to their lives. Parental counseling is also a major way of dealing with this disorder. There are difficulties, inflicted on a family, because of Rett Syndrome. Because of them, families may need additional support. This is also a good way to tap into help through their community.
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