Rett syndrome
The appearance of genetic pathology in children, as a rule, becomes a complete surprise to parents who do not have such deviations in health. However, only some of these diseases are hereditary. Most of them, including Rett syndrome, arise due to accidental mutation of parental genes. This congenital progressive disease occurs primarily in girls. It has a characteristic clinical picture, which makes it possible to identify this pathology without problems.
Rett syndrome, symptoms
A feature of Rett syndrome is that in the first months of life, a child develops in accordance with age. Of course, there may be some lag in the formation of psychomotor skills, which rarely leads to anxiety for parents or doctors. However, already from the fifth month of life, pathological symptoms appear, which gradually increase.
The clinical picture of Rett syndrome changes depending on the stage of the disease, there are four of them. First, the child's monthly increase in head circumference slows down, psychomotor development practically stops, and muscle tone decreases. The next stage, more pronounced, begins in the second year of life. The child becomes very restless, does not sleep well, stops communicating with others. The most important diagnostic sign of the disease is the loss of all previously acquired skills, both motor and speech, as well as the appearance of a kind of automatism in the form of “hand washing”.
In the fourth year of life, in the third stage of Rett syndrome, the child shows signs of a sharp decline in the level of intelligence. Seizures and fluctuations in muscle tone are also noted. By about ten years of age, the disease enters the fourth stage, which is characterized by progressive motor impairment. There are problems with coordination of movements. The muscles atrophy, which leads to curvature of the spine and stunted growth of the child. In severe cases, severe exhaustion and loss of the ability to move independently occurs.
Rett syndrome, causes
The development of the disease is caused by a mutation of genes in the X chromosome. Rett syndrome can be both hereditary and, most often, a spontaneously arisen pathology. The specific localization of the altered genes in the so-called "female" chromosome contributes to the fact that the disease is diagnosed mainly in girls. The development of Rett syndrome in boys is very rare, since they receive from their parents two different chromosomes - X and Y.
If a gene mutation occurs in the father, male children in such a family are born without pathology. When boys receive an altered chromosome from their mother, they may die while still in her body or in the first months of life. However, they do not have time to reach the age when the first signs of the disease begin to appear. In rare cases of survival, Rett syndrome in boys manifests itself with almost the same symptoms as in girls.
Rett syndrome, treatment
Modern medicine is powerless over genetic pathology. Rett syndrome is no exception, the treatment of which is aimed primarily at the symptomatology, and not at the cause of the disease. The choice of therapeutic agents depends on the predominant signs of the disease at each stage. So, sedatives and anticonvulsants are used to reduce anxiety, improve sleep and relieve seizures.
The onset of symptoms of muscular dystrophy requires the appointment of a high-calorie diet. This helps maintain body weight, which inevitably decreases as the disease progresses. With Rett syndrome, treatment necessarily includes physical therapy, which allows you to maintain muscles in normal tone and maintain physical activity.
Violation of the child's contact with the outside world, caused by a sharp decrease in his intellectual capabilities, can be somewhat mitigated with the help of special psychological programs. They contribute not only to the development of some communication skills, but also to the formation of minimal self-care skills, which is very important in Rett syndrome.
Genetic diseases are distinguished by the severity and irreversibility of their consequences, which can manifest themselves in the violation of many body functions. Among the main symptoms of such a pathology as Rett syndrome, one can note a significant decrease in the child's mental abilities, as well as a limitation of his motor abilities. All this, taken together, often leads to the need for constant care for such a patient. However, a special therapeutic effect allows the child to adapt somewhat to the world around him.
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The information is generalized and provided for informational purposes only. At the first sign of illness, see your doctor. Self-medication is hazardous to health!
