What is the cause of Rett's syndrome?
At present, there is much evidence that the violation has a genetic origin. Pathology is almost always found only in girls. The appearance of Rett syndrome in boys is an exception and is rarely recorded.
The mechanism of the development of the disorder is directly related to the mutation in the genome of the baby's apparatus, in particular, with the breakage of the x chromosome. As a result, there is a morphological change in the development of the brain, which completely stops its growth by the year 4 of the child's life.
What are the main symptoms that indicate the presence of Rett syndrome in children?
As a rule, in the first months the baby looks absolutely healthy and does not differ from his peers: body weight, head circumference fully comply with the established norms. That is why any suspicion of doctors in violation of its development does not arise.
The only thing that can be noted in girls before six months is the manifestation of atony (lethargy of the muscles), which is also characterized by:
- lowering of body temperature;
- sweating of feet and palms;
- pallor of the skin.
Already closer to the 5th month of life, symptoms of a lag in the development of motor movements begin to appear, among which are turning on the back and crawling. In the future, difficulties are noted in the transition from the horizontal position of the body to the vertical, and it is also difficult for babies to stand on their legs.
Among the immediate symptoms of this disorder, we can distinguish:
- discrepancy of growth rate;
- disproportionate sizes of the arms and legs to the body, small head;
- speech development disorder;
- unbending knee joints when walking;
- violation of posture;
- the appearance of seizures;
- delay of psycho-motor development.
Separately it is necessary to say that the genetic disease Rett syndrome in the hertized state (when the disease progresses) is always accompanied by a violation of the respiration process. Such children can be fixed:
- apnea (sudden, sudden stop of breathing);
- aerophagia (ingestion of air, which leads to frequent regurgitation);
- hyperventilation (supersaturation of the lungs with oxygen as a result of rapid and shallow breathing).
Also, among the bright, especially noticeable to the mothers of the symptoms, you can identify frequent, repetitive movements. In this case, the most often noted are various manipulations with handles: the baby seems to wash out or rub them against the surface of the body, as if with a bruise. Such children often bite clenched fists, which is accompanied by increased salivation.
What are the stages of the disorder?
Having considered the characteristics of disorders of the Rett syndrome, let's talk about what stages of the development of pathology are usually allocated:
- The first stage - primary signs appear in the interval of 4 months -1,5-2 years. Characterized by a slowdown in growth.
- The second stage is the loss of acquired skills. If up to a year the little girl has learned to pronounce some words and walk, then by 1.5-2 years they are lost.
- The third stage is the period of 3-9 years. It is characterized by relative stability and progressive mental retardation.
- The fourth stage - there are irreversible changes in the vegetative system, the musculoskeletal system.
By the age of 10, the ability to move independently can be completely lost.
Rhett's syndrome does not respond to treatment, so all therapeutic measures for this disorder are symptomatic and aimed at alleviating the general well-being of the girl. The forecast for this violation is unclear until the end. the disease is observed for no more than 15 years. It should be noted that some patients die in adolescence, but many patients reach the age of 25-30 years. Most of them are immobilized, and move in wheelchairs.