Prader-Willi Syndrome: Causes, Symptoms And Treatment
A rare disease with genetic roots is known as Prader-Willi syndrome. which is expressed through several varied biological and psychological symptoms and which at first do not seem to have much relationship with each other.
This syndrome is related to growth and intellectual development problems, but its scope goes beyond these areas.
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 first vital stages from birth.
The causes of Prader-Willi syndrome are believed to have to do with a failure in the genes associated with a region of chromosome 15 of paternal origin which are not expressed as one would expect. This is why the symptoms are noticeable from the first days after childbirth.
Symptoms
The main symptoms of Prader-Willi syndrome are muscle atony (i.e., low muscle tone that causes the muscles to be flaccid by default), the growth retardation, problems in psychomotor development and intellectual disability mild.
Other more specific symptoms are problems when sucking during breastfeeding, tendency towards obesity and hunger that is difficult to satisfy a relative insensitivity to pain (in some cases), underdeveloped genitals and sleep disturbances.
In addition, because of growth difficulties and a propensity for obesity, Prader-Willi syndrome also It is related to problems such as susceptibility to diabetes, although this tendency could also have genetic roots. The presence of feet and hands that are somewhat smaller than normal also usually appears in these cases.
The psychological 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 homeostasis of the body, 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 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 average.
Normally, this intellectual disability has to do with limitations in working memory and difficulties when performing mathematical operations (dyscalculia). That is why it is common for these people forget elements that must be kept in memory to carry out a sequence of actions.
Language development is also usually delayed in boys and girls with Prader-Willi syndrome. Furthermore, their use of language requires them to 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.
Diagnosis
The diagnosis of this disease, as in all diseases, It 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 Molecular Diagnostic tests in a laboratory environment.
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 cushioning the negative impact that symptoms can produce on people’s quality of life.
Of course, the detection and diagnosis of Prader-Willi syndrome is essential 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 carried out and the coping styles that are developed in the face of everyday problems.
Early attention in these cases is essential and, also, 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, monitoring meals and creating 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 your 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.
