Pediatria pre prax 4/2007

DOWN SYNDROME AT THE PRESENT TIME

Down syndrome is caused by extra chromosome 21. The incidence is 1 to 750 of newborns. In average 64 infants with DS are born annually in Slovakia. Down syndrome, phenotypic expression of trisomy 21 (the presence of 3 copies of chromosome 21 in all cells), is the more frequent and more known chromosomal abnormality in human beings. DS is associated with mental retardation, impair immune system, congenital heart and gastrointestinal anomalies, impaired thyroid function and other metabolic disorders. Down syndrome´s essence is anable to treat, but by suitable stimulating program we can improve the cognitive function of children with DS. The optimal health care and education are exacting not only for parents, but also for professionals, but thanks to them the majority of children are integrated in normal life stream.

Keywords: Down syndrome, trisomy 21, cognitive function, optimal health care, ethical attitude.