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[title] => SVJETSKI DAN OSOBA S DOWN SINDROMOM Višak kromosoma je i više ljubavi!
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Down sindrom je najčešća kromosomopatija koja se javlja kod ljudi, a uzrokovana je pojavom viška genetskog materijala na 21. kromosomu, i upravo zbog toga na današnji dan, prvi dan proljeća, obilježavamo Svjetski dan osoba s Down sindromom.
Glavna misija je inkluzija - uključenje u redovito školovanje, društvo, život, a Svjetski dan osoba s Down sindromom često se obilježava i nošenjem različitih šarenih čarapa, obzirom da ih osobe s Downom ne mogu upariti, uz poruku kako smo svi isti u različitosti, uz poticanje tolerancije i svijesti o pravima osoba s Downom.
---
---
Down sindrom uzrokuje pogrešan prijenos kromosoma tijekom stanične diobe spolnih stanica. Tako se u jednoj stanici nađe višak cijelog ili dijela jednog kromosoma, kromosoma koji je numeriran brojem 21. Stanica sadržava 23 različita kromosoma numerirana brojevima od 1 do 22, te 23. spolni kromosom. Najčešće nastaje u jajnoj stanici prije, rjeđe nakon oplodnje, dok se u manjem broju slučajeva pojavljuje u spermijima. U tom slučaju stanice ne sadrže 46 kromosoma, već 47 jer se pojavljuje jedan prekobrojni kromosom, kromosom broj 21. Budući da postoje tri kopije 21. kromosoma, sindrom Down se često još naziva i “trisomija 21”, piše Hrvatska zajednica za Down sindrom.
Kao najčešći predisponirajući rizični čimbenik za pojavu ovog sindroma spominje se dob majke. Rizik kod trudnica u dobi od 20 godina iznosi 0,066 % ili 1:1.500 i višestruko je niži u odnosu na majke u dobi od 40 godina, kod kojih iznosi 1,0 % ili 1:100, piše Hrvatski zavod za javno zdravstvo.
Iako incidencija nije visoka, s obzirom na trajne teškoće koji ostavlja na pojedinca, njegovu obitelj i zajednicu, Down sindrom predstavlja značajan javnozdravstveni problem. Radi se o osjetljivom pitanju koje zahtjeva multidisciplinarni pristup u prevenciji i organizaciji skrbi za osobe s ovim sindromom. Za sve osobe s Down sindromom potrebno je osigurati adekvatnu zdravstvenu i socijalnu skrb te ih uključiti u programe osposobljavanja za samostalni život. Posebnu pažnju potrebno je posvetiti programima potpore obitelji koja skrbi o ovom vulnerabilnom dijelu populacije. Potrebno je kontinuirano provoditi programe osvješćivanja zajednice i zagovarati programe inkluzije osoba te programe potpore njihovim obiteljima.
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Down sindrom je najčešća kromosomopatija koja se javlja kod ljudi, a uzrokovana je pojavom viška genetskog materijala na 21. kromosomu, i upravo zbog toga na današnji dan, prvi dan proljeća, obilježavamo Svjetski dan osoba s Down sindromom.
Glavna misija je inkluzija - uključenje u redovito školovanje, društvo, život, a Svjetski dan osoba s Down sindromom često se obilježava i nošenjem različitih šarenih čarapa, obzirom da ih osobe s Downom ne mogu upariti, uz poruku kako smo svi isti u različitosti, uz poticanje tolerancije i svijesti o pravima osoba s Downom.
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Down sindrom uzrokuje pogrešan prijenos kromosoma tijekom stanične diobe spolnih stanica. Tako se u jednoj stanici nađe višak cijelog ili dijela jednog kromosoma, kromosoma koji je numeriran brojem 21. Stanica sadržava 23 različita kromosoma numerirana brojevima od 1 do 22, te 23. spolni kromosom. Najčešće nastaje u jajnoj stanici prije, rjeđe nakon oplodnje, dok se u manjem broju slučajeva pojavljuje u spermijima. U tom slučaju stanice ne sadrže 46 kromosoma, već 47 jer se pojavljuje jedan prekobrojni kromosom, kromosom broj 21. Budući da postoje tri kopije 21. kromosoma, sindrom Down se često još naziva i “trisomija 21”, piše Hrvatska zajednica za Down sindrom.
Kao najčešći predisponirajući rizični čimbenik za pojavu ovog sindroma spominje se dob majke. Rizik kod trudnica u dobi od 20 godina iznosi 0,066 % ili 1:1.500 i višestruko je niži u odnosu na majke u dobi od 40 godina, kod kojih iznosi 1,0 % ili 1:100, piše Hrvatski zavod za javno zdravstvo.
Iako incidencija nije visoka, s obzirom na trajne teškoće koji ostavlja na pojedinca, njegovu obitelj i zajednicu, Down sindrom predstavlja značajan javnozdravstveni problem. Radi se o osjetljivom pitanju koje zahtjeva multidisciplinarni pristup u prevenciji i organizaciji skrbi za osobe s ovim sindromom. Za sve osobe s Down sindromom potrebno je osigurati adekvatnu zdravstvenu i socijalnu skrb te ih uključiti u programe osposobljavanja za samostalni život. Posebnu pažnju potrebno je posvetiti programima potpore obitelji koja skrbi o ovom vulnerabilnom dijelu populacije. Potrebno je kontinuirano provoditi programe osvješćivanja zajednice i zagovarati programe inkluzije osoba te programe potpore njihovim obiteljima.
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Goran Sebelic/Cropix
Prvi dan proljeca ujedno je i Dan osoba s Down sindromom. Obicaj je da se na taj dan nose razlicite carape kako bi se barem na taj nacin skrenula pozornost na tu bolest.
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15. svibanj 2024 06:07
