Health Care of Children with Down Syndrome

Sindrom Down (SD) ili trisomija 21 je najčešći poremećaj u broju kromosoma, čiji je glavni uzrok njihovo nerazdvajanje. Dokazivanje SD je moguće provesti prenatalnom dijagnostikom (trostruki test, amniocenteza i dr.). SD je prepoznatljiv po karakterističnim fizičkim obilježjima (mišićna hipotonija, kosi položaj očnih otvora, kratke šake, mala glava i dr.) te smanjenim intelektualnim kapacitetom. Mnoge fizičke karakteristike Sindroma Down mogu se naći i kod zdrave djece, stoga je potrebno izraditi kariotip koji će potvrditi ili opovrgnuti postojanje SD. Među osobama sa SD postoji varijabilnost među zdravstvenim problemima, što posljedično utječe i na funkcionalni status pojedinca. Najčešći problemi s kojima se suočavaju djeca/osobe sa SD, kao i tim zdravstvenih djelatnika koji ih prati kroz život, su: problemi sa srcem i probavnim sustavom, bolesti imunološkog sustava, problemi s dišnim sustavom, poremećaji razvoja mozga i neurološki problemi, problemi lokomotornog sustava, ORL i stomatološki problemi, kožne bolesti, bolesti oka, hematološke i onkološke bolesti te problemi sa prehranom i promjenama metabolizma. Također je poznato kako je kod djece sa SD usporen psihomotorni razvoj, kao što je i češća pojava poremećaja u ponašanju i pojavi psihijatrijskih bolesti. Zdravstvena skrb djece sa SD je kontinuirana i počiva na holističkom i multidisciplinarnom pristupu. Zdravstvena skrb djece sa SD započinje odmah nakon rođenja tzv. Ranom Razvojnom Intervencijom (prilagođeni program napravljen radi specifičnih potreba pojedinog djeteta), čiji je cilj pomoći svakom djetetu optimizirati svoje sposobnosti u svakom području razvoja te prevenirati moguće posljedice kašnjenja. Sastavni dio zdravstvene skrbi je edukacija svih zdravstvenih djelatnika, a posebice medicinskih sestara koje su permanentno uključene u zdravstvenu njegu i skrb, kao i multidisciplinarni pristup edukaciji roditelja o čijem razumijevanju i angažmanu ovise uspjesi habilitacije i rehabilitacije djece sa SD. Uz već navedene oblike zdravstvene skrbi, od izuzetne je važnosti integracija djece sa SD u redovne vrtiće i škole te sve ostale oblike socijalizacije. Sve osobe sa SD su individue, a jedino zajedničko im je upravo Sindrom Down. Cilj zdravstvene skrbi je omogućiti svim osobama sa SD maksimalno iskorištavanje svojih kapaciteta i da budu ravnopravni članovi društva, ukratko rečeno, omogućavanje što veće samostalnosti u svakodnevnom životu u obitelji i zajednici.Down Syndrome (SD) or trisomy 21 is the most common disorder in chromosome number, whose main cause is their non-disjunction. Proving SD is possible to conduct with prenatal diagnostics (triple test, amniocentesis, etc.). SD is recognized by its characteristic physical features (muscular hypotonia, inclined position of eye opening, short hands, small head, etc.) and reduced intellectual capacity. Many physical characteristics of Down Syndrome can be found in healthy children, so it is necessary to prepare a karyotype to confirm or refute the existence of SD. Among persons with SD there is variability among health problems, which consequently affects the functional status of the individual. The most common problems faced by children/persons with SD, as well as health care team that follows them through life, are: heart and digestive system problems, immune system diseases, problems with the respiratory system, disorders of brain development and neurological problems, musculoskeletal problems system, ENT and dental problems, skin diseases, eye diseases, hematologic and oncologic diseases and problems with eating and changes in the metabolism. It is also known that children / persons with SD delayed psychomotor development, as well as the frequent occurrence of behavioral disorders and psychiatric illnesses. Health care of children/people with SD is continuous and is based on a holistic and multidisciplinary approach. Health care of children with SD starts immediately after birth with so called Early Developmental Intervention (custom program made for the purpose of specific needs of the individual child), whose goal is to help each child to optimize their abilities in every area of development, and to prevent the possible consequences of delays. An integral part of health care is the education of all health care professionals, especially nurses, who are constantly involved in the care and welfare, as well as a multidisciplinary approach to the education of parents whose understanding and engagement depends successes of habilitation and rehabilitation of children/people with SD. In addition to these forms of health care, it is of great importance integration of children with SD in regular kindergartens and schools and other forms of socialization. All persons with SD are individuals, and the only thing in common is precisely Down syndrome. The goal of health care is to enable all persons with SD to maximize their capacities and to be equal members of society, in a word, to enable them to what greater autonomy in daily life in the family and community