The advent of genetic diseases in children usually becomes a complete surprise for the parents who do not have such problems with health. However, only some of these diseases are hereditary. Most of them, including Rett syndrome are due to random mutation parental genes. It is an innate progressive disease occurs predominantly in girls. It has a characteristic clinical picture, which allows you to easily identify this pathology.
Rett syndrome symptoms
A feature of Rett syndrome is that in the first months of life the child develops according to age. Of course, there may be some lag in the formation of psychomotor skills that rarely leads to concern parents or doctors. However, from the fifth month of life there are pathological symptoms that gradually increase.
The clinical picture of Rett syndrome varies according to the stage of the disease, for a total of four stands. First, the child is slowing monthly growth of head circumference, practically stops psychomotor development, reduced muscle tone. The next stage is more pronounced, begins in the second year of life. The child becomes very restless, not sleeping, he stops to chat with others. The most important diagnostic feature of the disease is the loss of previously acquired skills, both motor and speech, as well as the emergence of a kind of automatism as a "hand-washing".
In the fourth year, in the third stage of Rett syndrome, the child shows signs of a sharp decline in the level of intelligence. Also recorded seizures and fluctuating muscle tone. Approximately ten years the disease becomes the fourth stage, which is characterized by progressive dysmotility. There are problems with the coordination of movements. Muscle atrophy, this leads to a curvature of the spine and the stunted growth of the child. In severe cases, there comes a strong depletion and the loss of the possibility of independent movement.
Rett syndrome, the reasons
Development of disease is caused by gene mutation in the X-chromosome. Rett syndrome can be both hereditary and, most of all, a spontaneous disease. Specific localization of the modified genes in the so-called "female" chromosome ensures that the disease is diagnosed mainly girls. The development of the Rett syndrome in boys observed very rarely, because they receive from parents, two different chromosomes - X and Y.
If a gene mutation has occurred at the father, male children are born in a family without a pathology. Receiving the same mother-chromosome changes, the boys may die while still in her body or in the first months of life. However, they do not manage to reach the age when they begin to appear the first signs of the disease. In rare cases, the survival of Rett syndrome in boys appears virtually the same symptoms as that of the girls.
Rett syndrome, treatment
Modern medicine is powerless in the face of genetic pathology. It is no exception, and Rett syndrome, which treatment is directed primarily to the symptoms, not the cause of the disease. Selecting therapeutic agents depends on the prevailing disease symptoms at each stage. For example, to reduce anxiety, improve sleep, and cupping and apply soothing anticonvulsants.
The appearance of symptoms of muscular dystrophy requires the appointment of a diet with high calorie content. It contributes to the preservation of body weight, which inevitably declines as the disease progresses. Rett syndrome treatment necessarily involves physical therapy and exercises that allows you to maintain muscle tone in the normal motor activity and maintain.
Violation of the child's contact with the outside world due to a sharp decline in its intellectual capacity, may be somewhat flattened by a special psychological programs. They contribute not only to the development of certain abilities to communicate, but also the formation of minimal self-help skills that Rett syndrome is very important.
Genetic diseases are different severity and irreversibility of its effects, which can manifest itself in violation of many body functions. Among the main symptoms of such diseases as Rett syndrome, one can note a significant decline in mental abilities of the child, as well as the restriction on his motor abilities. All this, together often leads to the need for ongoing care of such patients. However, a special curative effect allows for multiple child to adapt to the world.