The child with congenital disease: genetically conditioned syndromes and congenital anomalies

The child with congenital disease: genetically conditioned syndromes and congenital anomalies.

A series of lectures presenting the current state of knowledge about the course of dis-ease in individuals with the most common genetically conditioned syndromes and congenital anomalies. Lectures are designed for students from the third to fifth year of studies.

A series of 15 lectures is intended for full-time students and part-time students who are interested in issues related to genetically determined syndromes and the quality of life of pa-tients with these kind of diseases, i.e., patients who suffer from congenital disorders. The aim of the course is to present the current state of knowledge of the most common genetically de-termined syndromes, including Turner syndrome, which occurs in 1 out of 2000 births of fe-male babies; this means that each year in Poland at least several dozen girls are born with the disease. Progress in medical science not only makes possible the early recognition of genet-ically determined syndromes, but also provides for more effective treatment of the symptoms. The life span of many of these patients is more and more often close to the average age of the general population, which imposes on the rest of society a duty to include the chronically ill in all types of human activity, including science. Today, women with Turner syndrome pursue higher education, and they frequently receive advanced academic degrees.

These lectures are designed to prepare students to create programs that support the as-pirations of patients with congenital conditions. In Poland, for the majority of genetic diseas-es, there is a lack of specialized psychologists prepared to work with particular syndromes, even though the population of those in Poland having such syndromes can number in the thousands. There is public demand for specialists who are knowledgeable about congenital disease, and know how to deal with these conditions from the biomedical side, but who are not involved in the treatment of somatic symptoms. These specialists instead focus on quality of life issues, competency assessment, and job counseling. They support patients in many situations, such as how to reveal to a partner that one has an incurable congenital disease.

The workload resulting from the selection of the proposed series of lectures is 80 hours per semester: 30 hours devoted to participation in lectures and credits, 25 hours for preparation for classes and final credits, and 25 hours for library searches in classical form (Biblioteka Główna Biblioteka Lekarska, Biblioteka Warszawawskiego Uniwersytetu Medycznego / Medical University of Warsaw) and the Internet.