Prader-Willi syndrome

It will have happened to many of you, there are times when you do not satisfy anything you eat, you would be eating food all the time, but fortunately it only lasts a few days, until that state of anxiety fades.

People who suffer from it are not so good Prader-Willi syndrome (SPW), a congenital non-inherited pathology that affects one in 15,000 people and is characterized by insatiable appetite, hypotonia (low muscle tone), insufficient sexual development and poor mental and physical development. Naturally, if the diet is not controlled, and with the little that moves who suffers, it also leads to obesity.

The causes of this disease are found in different genetic mechanisms that are based on the loss or inactivation of genes that are expressed on the paternal chromosome 15 (15q11q13).

It is easier to diagnose the SPW in adults, the characteristics of the sufferer are particular and allow to suspect and diagnose the disease, in addition to the poor physical and mental development, a small mouth, almond eyes or the corners of the mouth are observed downwards with the fine upper lip, among other aspects. But there are also signs before a baby is born to diagnose this syndrome, especially a mother who is not first-time will perceive it, because they move less than normal and are in a position of buttocks in the womb, so they need a cesarean birth

The lack of movement even before birth is reflected by his hypotonia, which is maintained during the first two years of the child's life. In principle, as we have already mentioned, its development is slower and not as feasible, so in many cases they take their first steps over 2 years. They need a special diet, as they are unable to suck well enough to get the necessary nutrients due to their low muscle tone, which changes later, usually in preschool age, since as we said at the beginning, one of the symptoms is constant hunger and lack of control over food.

Those who suffer from SPW never feel satisfied after eating, since the hypothalamus center of satiety fails, they eat everything they find and if necessary they invent and lie to continue eating.

Fortunately, the neonatal diagnosis is anticipated more and more, being able to modify and control the problem, although there is no treatment yet, the quality of life is improved. The professionals and specialists who collaborate in the treatment of this syndrome are Neonatologists, pediatricians, endocrinologists, neurologists, psychologists and geneticists.

In the daily routine, all the areas surrounding the child should be informed about their problem, even at home, it will be convenient for the whole family to follow a similar diet, preferably low in calories. The school must take into account the guidelines to be followed and the patients themselves must be aware of their problem once they can understand it, the mental retardation they suffer is mild, explaining the problems in which excessive feeding can lead to help them put On your part.

It is necessary that they have clear dietary guidelines that will help reduce food anxiety, but will not eradicate it. Although they remain at bay with your diet, the insatiable appetite will remain active for life.

Prader-Willi syndrome is very complicated, so we recommend you visit the website of the Spanish Association for Prader-Willi Syndrome in case you need more information.

Video: Prader-Willi Syndrome Explained by Mayo Clinic (May 2024).