Pradera-Willie's syndrome

Pradera-Willie's syndrome in medicine call a rare hereditary disease of which absence or insufficient functioning of some genes or their parts of the 15th fatherly chromosome is characteristic. For the first time this pathology was described in 1956 in Switzerland by pediatricians A. Prader and H. Willie on whose surnames the syndrome is called. Frequency makes it 1 case on 12-15 000 newborn children. Symptoms and manifestations of a syndrome of Pradera-Willie happen various, and the course of a disease depends, as a rule, on a specific case.

Signs of a syndrome of Pradera-Willie

Some signs of a syndrome of Pradera-Willie can be found at a pregnancy stage. First of all, it is low mobility of a fruit and its wrong situation. After the birth the hypomyotonia which remains for the first year of life of the kid is expressed. Besides, at children with a syndrome decrease in deglutitory and sucking reflexes is shown that complicates feeding process. Disturbance of development of motive functions at them is also caused by a hypomyotonia therefore it is difficult for sick children to sit, hold the head, etc. However it is important to note that hypotonia decreases and to age of 6-7 years practically disappears.

Pradera-Willie's syndrome at children is also shown by constant feeling of hunger and lack of saturation. This symptom of a disease usually arises during a second or fourth the child's lives. On this background the hyperphagia or a gluttony, the notions of compulsion about food and obsessivny behavior which is sent to continuous questings and satisfaction of feeling of hunger gradually develops. Such symptoms inevitably lead to obesity which in case of this disease is observed generally on a trunk and proximal departments of extremities. Quite often leads these signs of a syndrome of Pradera-Willie at children to such complication as obstructive to the apnoea which is shown an apnoea in a dream.

Act as other typical symptoms of a disease:

• Decrease in growth;
• The extended shape of the head;
• Amygdaloid section of eyes;
• Wide nose bridge;
• Thin upper lip and small mouth;
• Low located auricles;
• Acromicria (disproportionally small brushes and feet);
• Weak xanthopathy, irises and a hair which is observed in 75% of cases of a disease;
• Dysplasia of hip joints;
• Rachiocampsis;
• The lowered density of bones;
• The increased drowsiness;
• Squint (strabismus);
• Dense saliva and problems with teeth;
• Late puberty.

Already at the birth Pradera-Willie's syndrome at children is shown by disturbance of development of generative organs. At boys with this disease the underdevelopment of a penis and a scrotum is observed, and the level of testosterone is sharply reduced, girls have an underdevelopment of vulvar lips and quite often a uterus. Further the disease results in absence or a delay of puberty and infertility.

One of the main signs of a syndrome of Pradera-Willie is also the delay of psychomotor development. The coefficient of intellectual development at patients makes 20-80 units whereas norm is the indicator of 85-115 units. Together with it the children having this disease, as a rule, have good visual memory, can learn to read and even to possess quite rich passive dictionary, however their speech is much worse, than understanding.

Pradera-Willie's syndrome at children usually is followed by bad acoustical and visual memory, mathematical skills and writing skills are given them very difficult. It should be noted that quite often at children with such syndrome the diabetes mellitus develops.

Diagnosis of a syndrome of Pradera-Willie

Early diagnosis of a syndrome of Pradera-Willie and the subsequent treatment allow to improve the forecast of development of a disease. The diagnosis is made, as a rule, on the basis of clinical displays of a disease, but genetic testing which specialists recommend first of all for newborns is often used today. It is caused by the fact that at children to define existence of a syndrome much more difficultly as it is impossible to check their abilities allowing to carry out diagnosis of a syndrome of Pradera-Willie on clinical manifestations.

Genetic testing is held by a DNA methylation method for the purpose of examination whether are present at the 15th chromosome of a deviation, the diseases leading to emergence. This way of diagnosis of a syndrome of Pradera-Willie helps to reveal 97% of cases of a disease.

It is also worth noting that often the disease is diagnosed incorrectly as it is quite often confused to a Down syndrome which meets much more often. Besides such characteristic sign of a syndrome of Pradera-Willie as obesity, can be present also at a Down syndrome. For this reason huge number of cases of a disease remain not revealed.

Treatment of a syndrome of Pradera-Willie

As the disease is genetic anomaly, for treatment of a syndrome of Pradera-Willie there are no effective medicines today. Together with it some medical actions helping to improve quality of life of patients are applied. First of all they have to be directed to increase in a muscle tone therefore sick children need special massage procedures and physical therapy.

Treatment of a syndrome of Pradera-Willie includes also diets with restriction of fats and carbohydrates. To avoid obesity, it is necessary to watch quality and caloric content of the eaten food constantly. Besides, at treatment use of hormonal therapy by means of gonadotrophins which allow to increase growth of the sick child is quite often recommended and to recover a tone of muscles. It promotes the correct distribution of calories in an organism, interfering with obesity.

Treatment of a syndrome of Pradera-Willie also assumes special techniques of development of sick children, occupations with the speech pathologist, the logopedist and the psychologist.