Prader-Willi syndrome: causes, symptoms and treatment

It is known as Prader-Willi syndrome, a rare disease of the genetic root which is expressed through various biological and psychological symptoms and which, at first glance, do not seem very related to each other.

This syndrome is linked to problems with growth and intellectual development, but its scope goes 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 disease that it can be identified in the early stages of life from birth.

The causes of Prader-Willi syndrome are thought to be related a gene failure associated with a region of chromosome 15 of paternal origin, Which are not expressed as one would expect. That is why the symptoms are noticeable from the first days after childbirth.

symptoms

The main symptoms of Prader-Willi syndrome are muscle weakness (I.e. poor muscle tone which makes muscles flabby by default), the growth retardation, psychomotor development problems and intellectual disability Light.

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

Additionally, due to growth difficulties and a propensity to obesity, Prader-Willi syndrome is linked to problems such as the propensity to diabetes, although this tendency could also be genetic. The presence of slightly smaller than normal feet and hands also occurs in these cases.

Psychic aspects linked to the symptom, such as abnormalities in appetite control, have to do with alterations in the parts of the brain responsible for regulating the body’s homeostasis, that is to say the balance in which the processes carried out by the body must be nurtured.

In the case of the tendency to eat a lot, this symptom is linked to abnormal functioning of a region of the brain called the hypothalamus.

Intellectual disability

The CI of people with Prader-Willi syndrome is usually around 70, Significantly below average.

Usually, this intellectual disability is related to the limitation of working memory and difficulties in performing mathematical operations (dyscalculia). This is why it is common for these people forget the elements that must be kept in memory 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 incomplete sentences too short. In addition, they often have difficulty using and interpreting somewhat sophisticated sentences, such as those containing negations.

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

diagnostic

The diagnosis of this disease, as in all diseases, it should always be performed by accredited healthcare system specialists.

It begins with recognition of symptoms and testimony from parents, and continues with the use of molecular diagnostic genetic testing in a laboratory environment.

Treatment of Prader-Willi syndrome

Be caused by genetic inheritance, there is no cure for Prader-Willi syndromeAnd efforts through medical and psychological interventions aim to lessen the negative impact that symptoms can have on people’s quality of life.

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

Early care in these cases is essential and also very grateful, because these boys and girls have a great capacity for learning. In all cases, the intervention will concern very varied areas of the health system, given the diversity of symptoms of this syndrome: dermatology, endocrinology, neurology, etc.

Administering growth hormone, monitoring meals, and creating exercise plans to keep the muscles as fit as possible are very common approaches in these cases. as well as psychotherapy aimed at teaching these people strategies to improve their well-being and so that their self-esteem is not greatly affected. In some cases, moreover, 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.

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