It is known as Prader-Willi syndrome, a rare disease with genetic roots that is expressed through various biological and psychological symptoms that at first do not seem to be very 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 the Swiss doctors Alexis Labhart, Andrea Prader and Heinrich Willi, is a congenital disease that can be identified in the early stages of life from birth .

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


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

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

In addition, because of growth difficulties and propensity to obesity, Prader-Willi syndrome is also related to problems such as propensity to diabetes, although this tendency may also be genetically rooted. The presence of slightly smaller than normal hands and feet is also common in these cases.

The psychic aspects related to the symptom, such as anomalies in appetite control, have to do with the alterations in parts of the brain responsible for regulating the body’s homeostasis, 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 70 , significantly below the average.

This intellectual disability is usually related to limited working memory and difficulties in performing mathematical operations (dyscalculia). This is why it is frequent that these people forget elements that they have to keep in their memory in order to perform 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 often have certain difficulties in using and interpreting somewhat sophisticated sentences, such as those containing denials.

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


The diagnosis of this disease, as with all diseases, must always be made by accredited specialists in the health system .

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

Treatment of Prader-Willi syndrome

As it is caused by genetic inheritance, there is no cure for Prader-Willi syndrome , and efforts through medical and psychological intervention are aimed at cushioning the negative impact that the symptoms may 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 tendencies of genetic origin from damaging 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 done and the coping styles that are developed in the face of daily problems.

Early attention in these cases is fundamental and, furthermore, 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 muscles as fit as possible are popular approaches in these cases, as well as psychotherapy aimed at teaching these people strategies to improve their wellbeing and so that their self-esteem is not greatly affected. In some cases, 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.