Prader-Willi syndrome: causes, symptoms and treatment.

A genetic disease with physical and psychological symptoms related to growth.

Prader-Willi syndrome is a rare, genetically rooted disease that expresses itself which expresses itself through various biological and psychological symptoms that at first do not seem to be closely related to each other.

The syndrome is associated with problems of growth and intellectual development, but its scope extends beyond these areas.

What is Prader-Willi syndrome?

Prader-Willi syndrome, identified in the 1950s by Swiss physicians Alexis Labhart, Andrea Prader and Heinrich Willi, is a congenital condition that can be identified early in life. can be identified in early life from birth onward..

The causes of Prader-Willi syndrome are thought to have to do with a defect in the genes associated with a region of chromosome 15 of paternal origin, which are not expressed as expected.which are not expressed as expected. This is why symptoms are noted from the first days after birth.

Symptoms

The main symptoms of Prader-Willi syndrome are muscle atonia (i.e. a low muscle tone that causes the muscles to be flaccid by default), growth retardation growth retardation, problems in psychomotor development, and mild intellectual disability. intellectual disability.

Other more specific symptoms include sucking problems during breastfeeding, a tendency toward obesity and hunger, and a a tendency towards obesity and hunger that is difficult to satisfyIn some cases, a relative insensitivity to pain, underdeveloped genitalia and sleep disturbances.

In addition, because of the growth difficulties and the propensity to obesity, Prader-Willi syndrome is also associated with a tendency towards obesity. is related to problems such as a propensity to diabetes, although this tendency could also be genetically rooted. The presence of somewhat smaller than normal feet and hands also tends to appear in these cases.

The psychic aspects related to the symptom, such as anomalies in appetite control, have to do with alterations in parts of the brain responsible for regulating the homeostasis of the organism, i.e. the balance in which the processes carried out by the body must be maintained.

In the case of the tendency to eat a lot, this symptom has to do with an abnormal functioning of a region of the brain known as the hypothalamus.

Intellectual disability

The IQ of people with Prader-Willi syndrome usually hovers around a score of 70significantly below the average.

Normally, this intellectual disability is related to limitations in working memory and difficulties in performing mathematical operations (dyscalculia). That is why it is frequent that these people forget elements that they have to keep in memory in order to perform a sequence of actions..

Language development is also usually delayed in children with Prader-Willi syndrome. In addition, their use of language requires them to use generic words and many unfinished or too short sentences. unfinished or too short sentences.. In addition, they often have some difficulty using and interpreting somewhat sophisticated sentences, such as those containing negations.

However, people with this syndrome do not necessarily develop an aversion to the use of language or verbal communication specifically, and may experience pleasure in reading.

Diagnosis

The diagnosis of this disease, as with all diseases, should always be performed by accredited specialists of the health system..

This begins with a recognition of the symptoms and with the testimony of the parents, and continues with the use of genetic tests of Molecular Diagnostics in a laboratory environment.

Treatment of Prader-Willi syndrome

Being caused by genetic inheritance, there is no cure for Prader-Willi syndrome, there is no cure for Prader-Willi syndrome.The efforts made through medical and psychological intervention are oriented to cushion the negative impact that the symptoms can have on the quality of life of individuals.

Of course, the detection and diagnosis of Prader-Willi syndrome is fundamental to be able to act in time and prevent these genetic tendencies from damaging the mental and behavioral faculties that should develop during childhood and adolescence, vital stages in which the person is especially sensitive to the type of learning that takes place and the coping styles that are developed in the face of everyday problems.

Early attention in these cases is fundamental and, moreover, very grateful, since these children have a high capacity to learn. In any case, the intervention will involve very varied areas of the health system, given the diversity of symptoms of this syndrome: dermatology, endocrinology, neurology, etc.

The administration of growth hormone, the supervision of meals and the creation of exercise plans to keep the musculature as fit as possible are very common approaches in these cases, as well as psychotherapy aimed at teaching these people strategies to improve their wellbeing and to ensure their self-esteem and so that their self-esteem is not greatly affected. In some cases, it will also be necessary to use sex hormones and it is almost always necessary to control the appearance of possible symptoms of Diabetes mellitus.