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Sindrom Down je neizlječiv kromosomski poremećaj koji nastaje uslijed pogrešnog prijenosa kromosoma tijekom stanične diobe spolnih stanica te uzrokuje pojavu viška jednog kromosoma ili samo dijela kromosoma. Tako osobe sa sindromom Down na 21. kromosomskom paru imaju tri umjesto dva kromosoma, a od tuda dolazi i naziv trisomija 21. Osobe sa sindromom Down imaju specifičan fizički izgled s karakteristikama: kosi položaj očiju, kratki i široki vrat s previše kože, kratke šake, mišićnu hipotoniju, malena glava, okruglo lice izravnanog profila i kraći prsni koš. Osim zaostatka u tjelesnom razvoju, prisutan je i zaostatak u mentalnom razvoju, ali većina djece ima lake do umjerene intelektualne teškoće. Sindrom Down predstavlja rizik za razna zdravstvena oboljenja, a u zdravstvene teškoće ubrajaju se: srčane greške, problemi s probavnim sustavom, problemi s respiratornim sustavom, s jezikom, s kožom, problemi s hranjenjem, bolesti štitnjače, problemi s imunitetom, otorinolaringološki problemi te mnogi drugi. Dijagnostika sindroma Down provodi se: ultrazvučnim pregledom, analizom hormona, probirom seruma majke, amniocentezom i kariotipizacijom. Cilj ovog rada bio je osvijestiti probleme djece sa sindromom Down te život i rad njihovih roditelja. Uz roditelje, u radu i razvoju djeteta sa sindromom Down pomaže i stručni tim koji se sastoji od logopeda, edukacijskog rehabilitatora, fizioterapeuta i psihologa. Već od ranog djetinjstva, djecu sa sindromom Down trebalo bi uključiti u socijalni život, u ranu intervenciju te što više educirati kako bi postali što više samostalniji. Samim time imaju jednake mogućnosti razvoja svojih spoznajnih, tjelesnih, društvenih i emocionalnih sposobnosti. U ovom radu prikazan je i prikaz slučaja desetogodišnje djevojčice sa sindromom Down te individualni pregled njenog razvoja i učenja, poteškoće sa kojima se susrela, procjene od strane stručnjaka te njena integracija u društvo (dječji vrtić, škola). Dječji vrtić je za djecu sa sindromom Down od velike važnosti jer tamo djeca uče, steknu znanja s područja socijalizacije, discipline, povećavaju samostalnost, finu motoriku te se potiče djetetova komunikacija kroz igru i druženja sa ostalom djecom. Djecu sa sindromom Down potrebno je uključiti i u školski sustav gdje postaju članovi društva, ostvaruju bolju svakodnevnicu i pripremaju se za što samostalniji oblik življenja. Medicinska sestra ima vrlo važnu ulogu u edukaciji i informiranju roditelja i samih osoba sa dijagnozom sindroma Down te i cjelokupne populacije. Vrlo je važno da medicinska sestra svojim znanjem i djelovanjem umanjuje prisutnost predrasuda u svrhu održavanja i unaprjeđenja kvalitete života osoba sa sindromom Down. Syndrome Down is an incurable chromosomal disorder that results from chromosome misfolding during cell division of germ cells and causes the appearance of an excess of one chromosome or only part of the chromosome. Thus, people with syndrome Down have three instead of two chromosomes on the 21st chromosome pair, hence the name trisomy 21. People with syndrome Down have a specific physical appearance with characteristics: oblique eye position, short and wide neck with too much skin, short fists, muscular hypotonia, small head, round face with a flattened profile and shorter chest. Except for a lag in physical development, there is also a mental developmental disability, but most children have mild to moderate intellectual disabilities. Syndrome Down is a risk for various health conditions, and health problems include: heart defects, digestive problems, respiratory problems, tongue, skin, feeding problems, thyroid disease, immunity problems, otorhinolaryngological problems and many others. Syndrome Down diagnosis is performed by: ultrasound examination, hormone analysis, maternal serum screening, amniocentesis and karyotyping. The aim of this paper was to raise awareness of the problems of children with syndrome Down and the life and work of their parents. Next to the parents, a professional team consisting of speech therapists, educational rehabilitator, physical therapists and psychologists helps in the work and development of the child with syndrome Down. From an early age, children with syndrome Down should be included in social life, early intervention and educated as much as possible to become more independent. Therefore, they have equal opportunities to develop their cognitive, physical, social and emotional abilities. This paper also presents a case report of a 10-year-old girl with syndrome Down and an individual review of her development and learning, the difficulties she encountered, estimates by experts and her integration into society (kindergarten, school). Kindergarten is of great importance for children with syndrome Down because it is there that children learn, acquire knowledge in the field of socialization, discipline, increase their independence, fine motor skills and encourage children's communication through play and socializing with other children. Children with syndrome Down need to be included in the school system where they become members of society, achieve a better everyday life and prepare for the most independent form of living. The nurse has a very important role in educating and informing parents and individuals with a diagnosis of syndrome Down and the entire population. It is very important for the nurse to reduce the presence of prejudice in her knowledge and actions in order to maintain and improve the quality of life of people with syndrome Down. |
