| Abstract | Sindrom Down kromosomski je poremećaj koji nastaje uslijed viška jednog kromosoma ili dijela kromosoma, a često se upotrebljava i izraz trisomija 21 zbog toga što postoje tri kopije 21. kromosoma. Poznati su neki čimbenici rizika kao na primjer starost majke, ali to nije uvijek slučaj. Kod majki koje su starije od 35 godina, dokazano je da je rizik nešto veći. Postoji puno nepoznanica o nastajanju sindroma Down i njegovim čimbenicima rizika. U svijetu je učestalost sindroma Down 1:600-800 novorođenih, a prema SZO-u, RH spada u skupinu zemalja s nižom stopom rođene djece sa sindromom Down. Tri su tipa sindroma Down: klasični, mozaički i translokacijski tip. Klinička slika sastoji se od karakterističnih fizičkih obilježja kao što su mala glavica, mala usta, male uši, višak kože na vratu, male šake. Često je značajno izraženo oštećenje kognitivnih funkcija odnosno intelektualno oštećenje. Psihomotorni razvoj je usporen, a intelektualne poteškoće su često brojne. Djeca sa sindromom Down uglavnom kasne u razvoju za zdravom djecom pa je tako dijete sa sindromom Down u dobi od 6 godina jednako umnom razvoju zdravog djeteta od 3 godine. Dijagnoza se većinom postavlja prenatalno ili po rođenju djeteta. Najčešće se prenatalno primjenjuje ultrazvuk, trostruki test, četverostruki test, amniocenteza i biopsija korionskih resica. Liječiti sindrom Down se ne može, ali se mogu liječiti popratne bolesti i poremećaji. Osobama sa sindromom Down potrebna je velika pomoć i podrška koju najprije mogu očekivati od roditelja, obitelji i prijatelja. Bitan oblik podrške je i Hrvatska zajednica za Downov sindrom koja uvelike pomaže osobama sa sindromom Down u socijalizaciji jer je osobama sa sindromom Down ponekad teško uklopiti se, stvarati prijateljstva i sudjelovati u interakciji. Osobama s invaliditetom, među koje se ubrajaju i osobe sa sindromom Down, često su narušena ljudska prava kao što je pravo na život bez diskriminacije, pravo na život, pravo na život u obitelji te mnoga druga prava. Konvencija UN-a o pravima djeteta zalaže se za djecu s invaliditetom i nastoji im osigurati dostojanstvo, posebnu skrb i olakšati sudjelovanje u zajednici. Cilj rada bio je ispitati znanje i informiranost zdravstvenih djelatnika o osobama sa sindromom Down, te procijeniti njihove stavove i iskustva. U istraživanju je sudjelovalo 1798 ispitanika. Pokazalo se da postoje razlike u stavovima ispitanika prema osobama sa sindromom Down s obzirom na osobno iskustvo, te da su pozitivni stavovi ispitanika prema osobama sa sindromom Down povezani s boljim znanjem o sindromu Down. |
| Abstract (english) | Down syndrome is a chromosomal disorder that results from an excess of one chromosome or part of a chromosome, and the term trisomy 21 is often used because there are three copies of chromosome 21. Some risk factors are known, such as the age of the mother, but this is not always the case. In mothers over the age of 35, the risk has been shown to be slightly higher. There are many unknowns about the development of Down syndrome and its risk factors. The frequency of Down syndrome in the world is 1: 600-800 newborns, and according to the WHO, the Republic of Croatia belongs to the group of countries with a lower rate of children born with Down syndrome. There are three types of Down syndrome: classical, mosaic, and translocation type. The clinical picture consists of characteristic physical features such as a small head, small mouth, small ears, excess skin on the neck, small hands. Impairment of cognitive functions or intellectual impairment is often significantly expressed. Psychomotor development is slowed, and intellectual difficulties are often numerous. Children with Down syndrome are generally late in development for healthy children, so a child with Down syndrome at the age of 6 is equal to the mental development of a healthy child at 3 years of age. The diagnosis is usually made prenatally or after the birth of a child. Ultrasound, triple test, quadruple test, amniocentesis and chorionic villus sampling are most commonly used prenatally. Down syndrome cannot be treated, but concomitant diseases and disorders can be treated. People with Down syndrome need a lot of help and support that they can expect from parents, family and friends first. An important form of support is the Croatian Down Syndrome Association, which greatly helps people with Down syndrome in socialization, because it is sometimes difficult for people with Down syndrome to fit in, make friends and participate in interaction. People with disabilities, including people with Down syndrome, often have their human rights violated, such as the right to life without discrimination, the right to life, the right to family life, and many others. The UN Convention on the Rights of the Child advocates for children with disabilities and seeks to ensure their dignity, special care and facilitate their participation in the community. The aim of the study was to examine the knowledge and information of health professionals about people with Down syndrome, and to assess their attitudes and experiences. The study involved 1,798 respondents. It was shown that there are differences in the attitudes of the respondents towards people with Down syndrome with regard to personal experience, and that the positive attitudes of the respondents towards people with Down syndrome are associated with better knowledge about Down syndrome. |
