Prader-Willi syndrome: causes, symptoms and treatment

A rare genetic root disease is known as Prader-Willi syndrome which is expressed through several varied biological and psychological symptoms and which at first do not seem to be closely related to each other.

This syndrome is related to growth and intellectual development problems, but its scope goes beyond these areas.

What is Prader Willi syndrome?

Prader-Willi syndrome, identified in the 1950s by Swiss doctors Alexis Labhart, Andrea Prader and Heinrich Willi, is a congenital disease that can be identified in the early vital stages from birth.

The causes of Prader-Willi syndrome are believed to be related to a fault in genes associated with a region of chromosome 15 of paternal origin, which are not expressed as expected. This is why the symptoms are noticeable from the first days after delivery.

Symptoms

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

Other more specific symptoms are problems when sucking during lactation, tendency towards obesity and hunger that is difficult to satisfy, a relative insensitivity to pain (in some cases), underdeveloped genitalia and sleep disturbances.

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

The psychological 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, that is, 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 abnormal functioning of a region of the brain known as the hypothalamus.

intellectual disability

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

Normally, this intellectual disability has to do with limited working memory and difficulties when performing mathematical operations (dyscalculia). That is why it is frequent that these people forget elements that have to be kept in memory to carry out a sequence of actions.

Language development is also often 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. In addition, they frequently have certain difficulties when using and interpreting somewhat sophisticated sentences, such as those that contain negations.

However, people with this syndrome need not 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 in all diseases, It must always be performed by accredited specialists from the health system.

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

Treatment of Prader-Willi syndrome

Being caused by genetic inheritance, there is no cure for Prader-Willi syndrome, and the efforts made through medical and psychological intervention are aimed at cushion the negative impact that the symptoms can produce on the quality of life of the people.

Of course, the detection and diagnosis of Prader-Willi syndrome is essential to be able to act in time and prevent these trends of genetic origin damage the mental and behavioral faculties that must be developed during childhood and adolescence, vital stages in which the person is especially sensitive to the type of learning that is carried out and the coping styles that are developed in the face of problems everyday.

Early attention in these cases is essential and, furthermore, very grateful, since these boys and girls 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.

Administration of growth hormone, monitoring meals, and creating meal plans exercise to keep the muscles as fit as possible are widely used approaches in these cases, as well as psychotherapy aimed at teaching these people strategies to improve their well-being and so that your self-esteem not be affected too much. In some cases, in addition, it will also be necessary to use sexual hormones and it is almost always necessary to control the appearance of possible symptoms of diabetes mellitus.