A genetic disease with physical and psychological symptoms related to growth.
It is known as Prader-Willi syndrome, a rare disease of genetic origin that is expressed through various biological and psychological symptoms that do not seem to be closely related to each other at first.
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 stages of life from birth.
It is believed that the causes of Prader-Willi syndrome have to do with a failure in the 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.
The main symptoms of Prader-Willi syndrome are muscle atony (that is, low muscle tone that makes the muscles flaccid by default), growth retardation, problems in psychomotor development, and mild intellectual disability.
Other more specific symptoms are problems when it comes to sucking during lactation, the tendency towards obesity and hunger that is difficult to satisfy, a relative insensitivity to pain (in some cases), underdeveloped genitalia and sleep disorders.
In addition, due to growth difficulties and a propensity for obesity, Prader-Willi syndrome is also linked to problems such as propensity for diabetes, although this trend could also be genetically rooted. The presence of feet and hands somewhat smaller than normal also usually appears in these cases.
The psychic aspects related to the symptom, such as abnormalities in appetite control, have to do with alterations in parts of the brain responsible for regulating the body’s homeostasis, that is, the balance in which the processes must be maintained. carried out by the body.
In the case of the tendency to eat a lot, this symptom has to do with an abnormal function of a region of the brain known as the hypothalamus.
The IQ of people with Prader-Willi syndrome is typically around 70, significantly below average.
Normally, this intellectual disability has to do with the limitation in working memory and difficulties when performing mathematical operations ( dyscalculia ). That is why it is common for these people to forget elements that they have to keep in memory to perform a sequence of actions.
Language development is also often delayed in boys and girls with Prader-Willi syndrome. In addition, their use of language requires that they use generic words and many unfinished or too short sentences. In addition, they often have certain difficulties when 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 specifically, and they can experience pleasure in reading.
The diagnosis of this disease, as in all diseases, must always be carried out by accredited specialists of 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 for Molecular Diagnosis in a laboratory environment.
Prader-Willi syndrome treatment
As it is caused by genetic inheritance, there is no cure for Prader-Willi syndrome, and the efforts made through medical and psychological intervention are aimed at mitigating the negative impact that the symptoms can produce on the quality of life of women. people.
Of course, the detection and diagnosis of Prader-Willi syndrome is essential to be able to act in time and prevent these genetic tendencies from damaging the mental and behavioral faculties that must develop during childhood and adolescence, vital stages in which the person is especially sensitive to the type of learning that takes place and the styles of coping that develop in the face of everyday problems.
Early care 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.
The administration of growth hormone, the supervision of meals and the creation of exercise plans 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 their self-esteem is not greatly affected. In some cases, in addition, it will also be necessary to use sex hormones and it is almost always necessary to monitor the appearance of possible symptoms of diabetes mellitus.