Down Syndrome

Abstract

Down sindrom je najčešći genetski poremećaj. Prvi ga je opisao John Langdon Down 1866. godine po kome je dobio naziv. Down sindrom uzrokuje pogrešan prijenos kromosoma tijekom stanične diobe spolnih stanica. Tijekom diobe u jednoj stanici se nađe višak cijelog ili dijela jednog kromosoma, kromosoma koji je označen brojem 21. Zbog toga se Down sindrom naziva i klasična trisomija 21. Osobe koje imaju Down sindrom imaju zajednička obilježja - kose oči, malene uši i nos, široki vrat i suhu kožu, smanjeni tonus mišića, kratke ruke, glavu smanjenog opsega, ali i oštećenja – zastoj u tjelesnom rastu i razvoju, auditivne, vizualne i govorne poteškoće i mentalno zaostajanje. Djeci s Down sindromom treba pomoć defektologa i logopeda te rana intervencija. Oni poput svih ostalih prolaze faze djetinjstva, adolescencije i odrastanja, igraju se, sudjeluju u interakciji, imaju svoje potrebe i prava, pohađaju redovnu nastavu i zapošljavaju se na otvorenom tržištu rada te postaju samostalni i sastavni dio društva. Poticanje i učenje otvaraju priliku djeci. Učenje treba početi onog trena kada se utvrdi poteškoća. Ne može se reći što djeca s Down sindromom mogu ili ne mogu. Učenjem će oni pokazati svoje mogućnosti, sposobnosti i vještine. Dijete s Down sindromom treba dovesti do uspjeha jer se tako povećava samopouzdanje i razvija pozitivna slika o sebi. Down sindrom pogađa sve rasne skupine i može se javiti u bilo kojoj obitelji, bez obzira na zdravlje roditelja, ekonomsku situaciju ili način života. Cilj ovog diplomskog rada je pobliže prikazati obilježja i značajke Down sindroma.Down syndrome is the most common genetic disorder. It is named after John Langdon Down who first described the condition in 1866. Down syndome is caused by an anomaly during the formation of reproductive cells. In that process, a part or a whole extra chromosome 21 becomes attached to another chromosome and instead of two normal copies of chromosome 21 there is also that extra material resulting in three copies of genetic material from chromosome 21. That is why the disorder is also called trisomy 21. People with Down syndrome have these features in common – upward slanting eyes, small ears and nose, short neck with excess skin at the back, dry skin, poor muscle tone, short hands, small head but also slower physical development, cognitive imapairment, delayed language and speech development. Children with Down syndrome require special education experts, speech therapists and early intervention. Like all other children, they go through all phases of childhood, adolescence and growing up - they play, interact with others, have their needs and rights, attend regular schools and work on regular job positions. Encouragement and education give them a wide variety of options to choose from. It is not universal what children with Down syndrome can or cannot do, theit abilities and skills vary and are shown as they develop and learn new things. It is important to help them grow to increase their self- esteem and to feel good about themselves. Down syndrome occurs in all ethnic and economic groups. The aim of this paper is to discuss some of Down syndrome features