Prader-Willi syndrome in medicine called a rare hereditary disease, which is characterized by the absence or lack of functioning of certain genes or parts of the 15th paternal chromosomes. For the first time this pathology was described in 1956 in Switzerland by pediatricians and H. A. Prader Willi, in whose name and named the syndrome. Its frequency is 1 in 000 newborns 12-15. Symptoms and signs Prader-Willi syndrome also vary and the disease depends generally on the particular case.
Signs of Prader-Willi syndrome
Some symptoms of Prader-Willi syndrome can be detected at the stage of pregnancy. First of all, it is a low mobility of the fetus and its correct position. Even after birth expressed muscular hypotonia that persists throughout the first year of baby's life. In addition, children with the syndrome manifests reduction swallowing and sucking reflex, which complicates the process of feeding. Violation of motor functions have also caused by muscular hypotonia, so sick children can be difficult to sit, keep your head and so on. N. However, it is important to note that hypotension and reduced to the age of 6-7 years, virtually disappears.
Prader-Willi syndrome in children is also manifested a constant feeling of hunger and the lack of saturation. This feature of the disease usually occurs in the second or fourth year of life. Against this background gradually developed hyperphagia or overeating, obsessive thoughts about food and obsessive behavior, which is aimed at the continuous search of food and the satisfaction of hunger. Such symptoms will inevitably lead to obesity, which in the case of this disease occurs mainly on the trunk and proximal extremities. These signs of Prader-Willi syndrome in children often leads to such complications as obstructive sleep apnea, manifested stop breathing during sleep.
Other typical symptoms of the disease are:
- Reduced growth;
- The elongated shape of the head;
- Almond-shaped eyes;
- The broad bridge;
- The thin upper lip and a small mouth;
- Low-lying ears;
- Acromicria (disproportionately small hands and feet);
- Weak pigmentation of the skin, hair and iris, which is observed in 75% of cases;
- Hip dysplasia;
- Decreased bone density;
- Squint (strabismus);
- Thick saliva and dental problems;
- Later puberty.
Already at birth, Prader-Willi syndrome in children manifests itself in violation of the genitals. The boys with the disease observed hypoplasia of the penis and scrotum, and dramatically reduced the level of testosterone in girls - hypoplasia of the labia and sometimes cancer. Subsequently disease leads to a lack of or delay in puberty and infertility.
One of the main features of Prader-Willi syndrome is also a psychomotor retardation. The coefficient intellectual development in patients of 20-80 units, while the norm is 85-115 units of measure. At the same time the children suffering from the disease usually have good visual memory, can learn to read and even have a fairly rich passive vocabulary speech but they are much worse than understanding.
Prader-Willi syndrome in children is usually accompanied by poor auditory and visual memory, math skills, and writing skills are very difficult for them. It should be noted that often in children with the syndrome of developing diabetes.
Diagnosis of Prader-Willi syndrome
Early diagnosis of Prader-Willi syndrome and subsequent treatment can improve the prognosis of the disease. The diagnosis is usually based on clinical manifestations of the disease, but today commonly used genetic testing, which experts recommend especially for newborns. This is due to the fact that the presence of the syndrome in children is much more difficult to determine, since it is impossible to test their abilities, allowing to diagnose Prader-Willi syndrome clinical manifestations.
Genetic testing is a method of DNA methylation in order to clarify whether there is a 15 chromosome abnormalities that lead to disease. This method of diagnosis of Prader-Willi syndrome helps to identify 97% of cases.
It should also be noted that the disease is often misdiagnosed because it is often confused with Down syndrome, which occurs much more frequently. Moreover, such a characteristic feature of Prader-Willi syndrome, obesity, can also be present in Down's syndrome. For this reason, a great number of cases remain undetected.
Treatment of Prader-Willi syndrome
As the disease is a genetic anomaly, for the treatment of Prader-Willi syndrome to date there are no effective drugs. At the same time apply some remedial measures to help improve the quality of life of patients. First of all they should be aimed at improving muscle tone, so sick children need special massage treatments and physiotherapy.
Treatment of Prader-Willi syndrome also includes a diet with restriction of fats and carbohydrates. To avoid obesity, you need to constantly monitor the quality and caloric food intake. Furthermore, the treatment is often recommended use of hormone therapy with gonadotropins, which can increase the growth of the child and the patient recover muscle tone. This contributes to proper distribution of calories in the body, preventing obesity.
Treatment of Prader-Willi syndrome also involves a special technique of sick children, classes for defectology, speech therapist and psychologist.