Autism is a congenital disease, which is characterized by difficulty with spoken language, understanding the emotions of others, the inability to express their emotions, communication problems, and sometimes a decrease of intelligence.The severity of the disease can vary from mild to severe.Mild autism almost no effect on the man, but when severe function of the human brain often completely disrupted and function normally can not.
Rett syndrome is a severe form of autism found only in girls and is usually diagnosed in the first two years of life.The diagnosis is like a sentence.Rett syndrome - a rare disease, it can develop in only one girl in ten or fifteen thousand, and in most cases is manifested at an early age.Changes in social and intellectual development begin to occur as early as six to eighteen months.
Symptoms of Rett syndrome
first sign of Rett syndrome is a slow growth of the head, the other primary symptom - the disappearance of muscle tone.The child does not know his hands intelligentl
Causes of Rett syndrome
Rett syndrome girls in most developing due to a mutation of a particular gene of the X chromosome.Causes of mutation of this gene and the manner in which they lead to the disease so far unknown to the end.
Under the existing hypothesis, one gene affect other genes that are involved in the development.Despite the fact that Rett syndrome is most likely is a genetic disease, a damaged gene from their parents almost never inherited by a child.This is a completely random mutations occurring in the DNA of the girl.Today, in addition to belonging to the female sex, no other risk factors for Rett syndrome was found.
If a gene mutation that leads to Rett syndrome, occurs in boys, they die shortly after birth.This is due to the fact that boys X chromosome and only one disease is rapidly fatal ends.
diagnosis of Rett syndrome
Rett syndrome is diagnosed on the basis of behaviors and identification of specific symptoms.For diagnosis, as a rule, these observations sufficient.The doctor should talk to the child's parents, to understand when these symptoms are evident.To confirm the diagnosis carried out a genetic study, which is suspected to confirm the diagnosis of Rett syndrome in eighty per cent of girls.Sometimes genetic study helps to predict the severity of the disease.
Treatment of Rett syndrome
Currently, for complete cure of Rett syndrome are no means no.However, there are methods to ensure that the girl was able to live as best as possible with the disease.
Medication can relieve cramps and remove some of the problems that are associated with the movements arising in Rett syndrome.A speech therapist can help with some speech difficulties, physiotherapy improve mobility and labor (rehabilitation) therapy will learn everyday actions - to dress themselves, bathe, etc.
According to experts, the quality of life through therapy Rett syndrome sufferers definitely improving.In some cases, perhaps even actively participated in various activities down to study at school.
forecast Rett syndrome
Symptoms of Rett syndrome does not improve with time, the illness lasts a lifetime.Most patients die before thirty years.Symptoms over time remain stable or slowly deteriorating.Live independently patients with Rett syndrome are rarely able to, they usually need constant care.