Kanjani ukuba umuntu aphile ngokuzinikela sitholakele Williams syndrome?

With ukuthuthukiswa entuthukweni yezobuchwepheshe yokuphila komuntu uye atjhaphuluke khudlwana. Nokho, njengoba sazi, kumelwe ukhokhele konke. Ukungcoliswa imvelo, ukuphila ukucindezeleka njalo, ukudla ukudla yokufakelwa kubathinta kabi zofuzo lomuntu. Zenzeka ekhulwini lamashumi amabili saholela isintu eziningi izifo ezintsha, izidakamizwa okuyiwona kungekho khona. Bayanda izingane zizalwa ezihlukahlukene abakhubazekile. Ngo-1961, usosayensi New Zealand George Williams wathola entsha isifo esidluliselwa ngofuzo, kamuva ngegama lakhe - Williams syndrome. Naphezu ukufana amagama ngesifo, njengabo syndrome Williams-Campbell (hypoplasia azalwa naso ze- bronchi), abazi kuhlobene futhi unezinye lutho ngamunye.

Williams syndrome noma isifo kwenzeka kwelinye 10,000 izinsana. Ngeshwa, akunjalo ezingavamile. Kuze kube manje, lwathola ukuthi imbangela eyinhloko lesi sifo umonakalo-chromosome lwesikhombisa-chromosome setha umbungu lapho besanda wokukhula kwengane esiswini. The main lolwehlukanisa ingane kokuba lo ukuphambuka ekuthuthukisweni - ". Ubuso brownie" okubizwa ngokuthi "ubuso Elf" noma izimpawu zangaphandle zezifo kuhlangene, ngokuvamile retardation engqondo okuncane noma okusesilinganisweni, i-calcium ngokweqile egazini, kunomthelela ongemuhle ekusebenzeni inhliziyo. Ingane nge kokutshelwa ngokukhubazeka kwengane ikude ngemuva ekuthuthukiseni zontanga, ngemva kwesikhashana uqala ukukhuluma, it has izinkinga nge ngekwendzawo ngeso ikhono. Ngaphezu kwalokho, abantu unesifo - Williams syndrome baphile ngaphansi kakhulu kunabanye abantu. Lokhu kungenxa calcification ithuthuka ngokushesha we imisipha yenhliziyo ngenxa calcium zandiswe igazi. Ngokuvamile, ukufa ekuseni isiguli kubangelwa khona izinkinga ezingathi sína yisimiso senhliziyo nemithambo yegazi.

Zonke izingane unesifo azalwa naso baba Williams syndrome zinenkinga efanayo isici izici zobuso: encane nekhala elimile ebunzini ewumngcingo, izindebe ezigcwele, nezihlathi ezinkulu, futhi constricted amadevu akhe, uvalwe ukuvala umlomo wakhe. Lezi zingane zivame ukuba obathandayo kakhulu, zihlukaniswa talkativeness ngokweqile nomusa. Abaningi babo babe ukuzwa ephelele kanye nekhono oluvelele zomculo. Lokhu ochwepheshe mkhuba elihlobene ne ubukhulu okwandisiwe kwesokunxele Lobe yesikhashana zobuchopho, okuyilona elisebenzayo futhi eyejwayelekile abaculi abanamakhono.

Zokusebenza kwengqondo ngokuvamile belulekwa abazali bezingane kwezinso zofuzo ezifanayo zisencane ukunikeza ingane esikoleni umculo. Lokho kwenza inqubo komphakathi, inkulumo ethi futhi nokuthuthukisa amathalente, ivumela ingane ukuba izizwe kufanelekile. Mangithi ukuthi izingane Williams syndrome, alien ubuthakathaka bobuntu ezifana ukwesaba, ihlazo, izakhiwo. Abakwazi ngempela ngokujabula enze esiteji phambi izihlwele lababukeli.

Imiphumela yaloku kuhlola okungenhla Kubi zingenziwa kuphela ngemva kokuzalwa kwengane. Reveal kwezinso ezifanayo kwengane esiswini phambi efika ukukhanya akunakwenzeka. Ingane ukuthi nginesifo Williams syndrome abadinga ukunakekelwa okukhethekile kwabazali yakhe, kwakufanele bonyana kusukela ekuzalweni ukuzizwa uthando lwabo futhi singakhethi, kodwa noma kunjalo, ngeke ahlukaniswe. Lezi zingane ekwazi ukuya esikoleni njalo futhi ubonise imiphumela emihle ezifundweni zabo. Njengomthetho, kuphela amakilasi abaphezulu.

Abantu noWilliams syndrome ungaba izingane Nokho, kabili ingozi yokuba okungenamsoco yengane yabo. Abazali abanombono isifo esidluliselwa ngofuzo, awokuthi kakhulu yokudlulisela izingane babo abangakazalwa. Izibikezelo Esinembile inganikelwa kuphela ngemva ukuhlaziywa isazi zofuzo.