Umlando, Izimbangela Nezici
I-Down syndrome yisimo sokubeletha esibangelwa i-chromosome eyengeziwe. Ukuba khona kwenombolo engaphezulu 21 ye-chromosome kubangela izici zobuso ezihlukile, izici zomzimba kanye nokukhubazeka okuqondayo okubonwe kubantu abane-Down syndrome. Ngenkathi abantu abane-Down syndrome banezici ezithile ezifanayo, kubalulekile ukukhumbula ukuthi umuntu ngamunye onesifo se-Down syndrome ungumuntu onamandla nezibuthakathaka.
Ukuze uqonde ukuthi kusho ukuthini ukuba ne-chromosome eyengeziwe, kusiza ukuba nolwazi olusisekelo mayelana nama- chromosomes.
Ama-Chromosomes
Ama-Chromosomes ngokuyinhloko amaphakheji olwazi lofuzo olutholakala kuwo wonke amangqamuzana omzimba womuntu. Iningi labantu linama-chromosomes angama-46 ahlelwe ngamabili ngamanani angu-23 we-chromosomes. Kunezimbhangqwana ezingamashumi amabili nambili zalokho okubizwa ngokuthi ama-autosomes kanye neqembu elilodwa lama-chromosomes ocansi. Abesifazane bane-X chromosomes amabili namadoda ane-X ne-Y chromosome. Abantu abane-Down syndrome bane-nucleusome eyengeziwe engu-21 - nesimo esibizwa nangokuthi i-trisomy 21. Esikhundleni sama- chromosomes angu-46, banama-47. Ukuba namakhophi amathathu wezinto zokwelapha ku-chromosome 21 yilokho okubangela i-Down syndrome.
Umlando we-Down Syndrome
I-Down syndrome yachazwa okokuqala nguDkt. John Langdon Down ngo-1866. Wayengudokotela eNgilandi enesithakazelo esikhethekile ekunciphiseni kwengqondo. Ngesikhathi engowokuqala ukuchaza ezinye zezici ezihlukile zabantu abanesifo se-Down syndrome, kwaze kwaba ngo-1959 ukuthi imbangela ye-Down syndrome , i-chromosome eyengeziwe 21, yatholwa uDkt. Jerome Lejeune owayefunda i-chromosomes (i-specialty okuthiwa i-cytogenetics).
Ama-chromosomes angabonwa ngaphansi kwe-microscope futhi uDkt Lejeune wayengowokuqala ukubona ama-chromosomes angu-47 emasethini omuntu one-Down syndrome kunama-46.
Down Syndrome Izici
Ngesikhathi umuntu ngamunye onesifo se-Down syndrome ehlukile futhi akekho umuntu oyedwa onesifo se-Down syndrome ozoba nazo zonke izibonakaliso nezimpawu ze-Down syndrome , ukubuka okuyisisekelo kungakunika ulwazi oludingekayo ukuthi usebenze ekunakekeleni ingane yakho.
Izici zobuso nezibonakalayo
Abantu abane-Down syndrome banezici zobuso obuhlukile ezibenza bafanane, kanye nemindeni yabo. Bangakwazi ukuba nama-almond ahlotshwe ngamapulangwe e-epicanthic, izindawo ezinemibala ekhanyayo emehlweni abo abizwa ngokuthi ama-brushfield, amacembe amancane athembekileyo, umlomo omncane olimini olukhulayo, nezindlebe ezincane. Futhi banobuso obunzima futhi amaphrofayili athile obuhle kakhulu.
Ezinye izici zomzimba ezitholakala kubantu abanesifo se-Down syndrome zihlanganisa i- crease eyodwa ezandleni zezintende zezandla zabo, iminwe emifushane eminwe kanye nomunwe wesihlanu ongena ngaphakathi obizwa ngokuthi i-clinodactyly. Unenhloko encane epholile emuva (brachycephaly), nezinwele eziqondile ezihle futhi ezincane. Ngokuvamile, bavame ukuba nesigamu esifushane nemilenze emifushane futhi bangaba nendawo enkulu kunazo zonke phakathi kwezinyawo ezinkulu nezincane.
Izinkinga zezokwelapha
Izingane ezine-Down syndrome zisengozini enkulu yokuthuthukisa izinkinga ezithile zezokwelapha. Ngenkathi abantu abaningi abane-Down syndrome bengenayo izinkinga ezinkulu zezokwelapha, kuhle ukuqaphela izinkinga ezingase zibe khona ukuze kutholakale ukwelashwa okufanele ngaphambi kwesikhathi ngaphambi kokuba kube nezinkinga ezinkulu.
Cishe zonke izinsana ezine-Down syndrome zinomsindo ophansi we-muscle okuthiwa i-hypotonia. Lokhu kusho ukuthi imisipha yabo ibuthakathaka futhi ibonakala i- floppy. Ngenkathi lokhu kungeyona inkinga yezokwelashwa nge-se, kubalulekile ngoba ithoni ye-muscle ingathinta ingane enekhono le-Down syndrome lokufunda nokukhula. I-Hypotonia ayikwazi ukuphulukiswa kepha ngokuvamile ithuthukisa ngokuhamba kwesikhathi.
I-Hypotonia ingaholela kwezinye izinkinga zamathambo noma zethambo ezifana nokungazinzi kwe-atlantoaxial ukuthi abanye abantu abane-Down syndrome bangakwazi.
Abaningi bezingane abane-Down syndrome bazoba nenkinga ethile yombono njengokungaboni kahle, ukubhekwa phambili, ukuwela amehlo ngisho nokuvinjelwa kwamathanga.
Abantwana abangama-40% abanesifo se-Down syndrome bazalwa benesiphambeko senhliziyo esingaba sebumnene kuya esibi. Kwesinye isikhathi phakathi kwama-40-60% wezingane abane-Down syndrome bazoba nokunye ukulahleka kokuzwa. Ezinye izinkinga zibonwa kancane kancane zihlanganisa amaphutha omzimba, izinkinga ze-thyroid kanye ne-rarely leukemia.
Ukukhubazeka kwengqondo
Bonke abantu abane-Down syndrome banezinga elithile lokukhubazeka kwengqondo. Bafunda kancane kancane futhi banenkinga ngokucabanga okunengqondo nokwahlulela, kodwa banamandla okufunda. Akunakwenzeka ukubikezela izinga lokukhubazeka kwengqondo ebantwaneni abane-Down syndrome ngesikhathi sokuzalwa (njengoba kungenakwenzeka ukubikezela i-IQ yimuphi usana ekuzalweni).
Kubalulekile ukuthi izinsana nabantu abane-Down syndrome bathole ukusekelwa, isiqondiso, imfundo kanye nokwelapha okufanelekile ukuze kukhuliswe amandla abo futhi bavumele baphile ukuphila okugculisayo.
Imithombo
I-Grayerson, i-K., Amantombazane ane-Down Syndrome - Umholi Omusha Wabazali , i-Woodbine House, ngo-1995.
I-Chen, H., i-Down syndrome, i- Emedicine , ngo-2007