20.500.12556/RUL-137010 Družina otroka s CHARGE-sindromom diplomsko delo Family of children with CHARGE syndrome diploma work Uvod: CHARGE-sindrom je redka genetska okvara, ki je posledica mutacije gena in prizadene več organov v telesu. Otroka, rojenega s tem sindromom, čaka dolgotrajno zdravljenje, številne operacije in posledično tudi dolgotrajne hospitalizacije. Potrebna je individualna obravnava otroka in njegove družine z multidisciplinarnim timom. Pri obravnavi je treba upoštevati smernice v družino usmerjene skrbi. Otrok s CHARGE-sindromom je pri življenjskih aktivnostih doživljenjsko odvisen od pomoči družine. Namen: Namen diplomskega dela je opisati družino otroka s CHARGE-sindromom. Cilj diplomskega dela je na podlagi intervjuja z mamo otroka, ki ima CHARGE-sindrom, opisati CHARGE-sindrom in življenje družine. Metode dela: V diplomskem delu je uporabljena deskriptivna metoda dela s pregledom literature v angleškem in slovenskem jeziku in prikaz primera. Primer je prikazan s pomočjo intervjuja, pri tem je uporabljen polstrukturiran vprašalnik. Razprava in zaključek: CHARGE-sindrom je stanje, ki ga povzroči mutacija gena CHD7. Otrok, rojen s tem sindromom, preživi v bolnišnici veliko časa, saj potrebuje številne kirurške posege in multidisciplinarno obravnavo. Pri obravnavi otroka je pomembna v družino usmerjena skrb, ki temelji na zaupanju med družino in zdravstvenimi delavci. Za družino otroka s CHARGE-sindromom je življenje stresno in naporno, zato družina potrebuje psihosocialno pomoč. Introduction: CHARGE syndrome is a rare genetic defect caused by a mutation in a gene that affects several organs in the body. A child born with this will receive long-term treatment for long-term surgery syndrome and, consequently, permanent hospitalization. Individual treatment of the child and his family with a multidisciplinary team is needed. The instructions in family-oriented care should be followed during the treatment. A child with CHARGE syndrome is lifelong dependent on the help of his family. Objective: The purpose of this thesis is to describe the family of a child with CHARGE syndrome. The purpose of the diploma work is to describe CHARGE syndrome and family life on the basis of interviews with the mother of a child with CHARGE syndrome. Methods used: The diploma thesis uses a descriptive method of work with a review of literature in English and Slovenian and a case study. The example is presented with the help of an interview, using a semi-structured questionnaire. Discussion and conclusion: CHARGE syndrome is a condition caused by a mutation in the CHD7 gene. A child born with this syndrome spends a lot of time in hospitals in need of surgery and multidisciplinary treatment. Family care based on trust between the family and healthcare professionals is important when treating a child. For a family of children with CHARGE syndrome, life is stressful and stressful, so the family needs psychosocial help. diplomska dela zdravstvena nega CHARGE-sindrom v družino usmerjena skrb zdravstveni delavci sprejemanje doživljanje diploma theses nursing care CHARGE syndrome family centered care healthcare workers acceptance experience true false false [M. Doles] Slovenski jezik Angleški jezik Diplomsko delo/naloga 2022-05-28 07:46:14 2022-05-28 07:46:17 2022-09-15 04:14:34 0000-00-00 00:00:00 2022 0 Ljubljana 0 Ljubljana 26 str., [3] str. pril. 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616-083 111930 109606403 19990.pdf 19990.pdf 1 FA65FCF144FEB005130BFB25C74BA81E 8ec567ba808a1ae5d42397b57bb3a6f11d17a32c9797b1bcd5e49bd06f7d1088 5afa2f19-de49-11ec-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=156854 Zdravstvena fakulteta 0 0 0