| Sažetak | Individuals suffering from Down syndrome have widespread body frame abnormalities and impaired brain development and function; the latter leading to impaired intellectual disability. It is caused by having a partial or complete third copy of chromosome 21, and there exists 3 forms: simple trisomy 21, translocation trisomy and mosaic trisomy. Symptoms include intellectual disabilities/mental retardation, early onset Alzheimer’s disease and the appearance of various phenotypic features, such as narrow slanted eyes, flat nose and short stature. In addition, cardiac heart defects are very frequent and have significant impact on life expectancy. The most common being from the group of endocardial cushion defects, with forms of common AV canal being the typical and major presentation. Left untreated, it can be complicated with pulmonary hypertension causing symptoms such as tachydyspnea, cyanosis and failure to thrive. There are also other health problems throughout the body, like thyroid function abnormalities along with nutritional disorders13. As the many issues listed above that are vital to health and well-being of individuals with DS remain to be studied, this an important and exciting time for chromosome 21 trisomy research.
Today all children with congenital heart defect are treated, including those accompanying Down syndrome. Together with the changing attitude towards children with trisomy 21, there are many issues to be concerned using a multi-systemic approach (medical, educational, environmental), to deal with other organic diseases and also cognitive development, to allow DS patients to extract their maximum potential and increase their chances of living a rich, independent community life. |
