Rett syndrome is one of the five pervasive developmental disorders (PDD). It is a rare neurological disorder that shares some symptoms with autism. The symptom that easily distinguishes Rett syndrome from autism is that people who have it have slowed head growth. It almost exclusively affects girls. There is currently no cure for the disorder, although the majority of people who have it reach middle adulthood.
Austrian physician Andreas Rett identified Rett Syndrome in 1966. The common symptoms of Rett syndrome include slowed brain and head growth, mental retardation, writhing hand and limb movements, loss of muscle tone, problems walking, poor body weight, and seizures.
It is easy to confuse Rett syndrome with autism because early symptoms of the disorder are similar to those of autism. Babies with Rett syndrome usually appear to grow normally until they are six to 18 months of age, but they gradually lose skills that they once had.
Rett syndrome is caused by mutations in the MECP2 gene found on the X chromosome. The MECP2 gene is believed to control the functions of other genes. When the MECP2 gene doesn’t work properly, other genes produce abnormal proteins. Although this hypothesis on how defects on the MECP2 gene cause Rett Syndrome is scientifically plausible, it has not yet been confirmed.
The disorder mostly affects girls. Current estimates on the prevalence of Rett syndrome in females is one in every 10,000 to 15,000 live births. In most cases, Rett syndrome occurs randomly. Although the disorder is genetic, less than 1% of recorded cases are inherited. One theory why Rett syndrome is almost absent in boys is that boys do not have the spare X chromosome girls have that helps them survive the disorder. The MECP2 gene is located on the X chromosome, and girls have two X chromosomes, while boys only have a single one and a Y. Because of this, boys with defective MECP2 genes die shortly after they are born.
Although there is no cure for Rett syndrome, there are many treatments available that address some of its symptoms. Drugs may be used to lessen difficulty in walking and breathing, and also to suppress seizures and tendencies of children to harm themselves. Heart problems and scoliosis can also develop, so there should be regular checkups. There are also many therapies that help children gain some skills for self-care.
Research is still being done on how exactly a mutated MECP2 gene causes Rett syndrome. If researchers can figure out how the gene works with other genes, and what genes and proteins fail to operate normally, they may be able to come up with treatments that can fix the malfunctioning genes. Developmental disorders like Rett syndrome and autism are very complex and difficult to solve, but scientists are doing their best to find a cure.
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