Trisomy 21: Amanani evamile

Trisomy - khona chromosome eziningana noma omunye owengeziwe kule isethi chromosome. Inketho ethandwa kakhulu - kuba khona -chromosome eyengeziwe esikhathini 13, 18 nele-chromosome 21.

Down Syndrome

Igama lesibili yalesi sifo - trisomy 21. yakhe yokuqala lucwaningwa umkhuba wakhe futhi kuchazwe Dr. Lengdon Daun ngo-1866. Doctor kwesokudla uchazele ikhomishana ngokutshalwa izimpawu eziyinhloko engaphansi, kodwa akazange akwazi ukuba ayichaze imbangela yalesi sifo. Axazulule impicabadala trisomy 21, abacwaningi bakwazi kuphela ngo-1959. Khona-ke kwatholakala ukuthi lesi sifo has a umsuka zofuzo. Amakhophi ne-chromosome 21 izakhi zofuzo banesibopho izici syndrome, okungukuthi khona-chromosome eyengeziwe kuholela zokugula ezinjalo. Kuyaziwa ukuthi engqamuzaneni ngalinye lomuntu, iqukethe ngazimbili amabili nantathu wama-chromosomes. Ingxenye yokuqala udabula neqanda elivela kumama, kanti eyesibili - ngokusebenzisa isidoda esivela kubaba. Kodwa ngezinye izikhathi uchitheka, futhi chromosome ayikwazi behlukana, ngakho kusukela omunye wabazali ungathola zonke iyunithi owengeziwe. Kufanele kuqashelwe ukuthi abafana namantombazane uhlushwa-Down syndrome ngokufanayo. Isikhundla ezindawo ka the abazali futhi akunandaba. Ngokwezibalo, elilodwa lihlupheka kusukela trisomy 21 izingane eziyisishiyagalombili.

Izimbangela Nezingozi ingozi trisomy 21. Izinga izinkomba ingozi

Izimbangela Down Syndrome bengayiqondi ngokugcwele. Ososayensi namanje bebaphikisana ngani lesi sifo. Okuwukuphela kwento uyavuma, wukuthi trisomy 21 kuwumphumela ukwehluleka kokusebenzisana eziningi phakathi izakhi zofuzo zomuntu ngamunye. Futhi akuyona esiwufuzo. Nokho kukhona indlela ethile yokuma: uma yobudala kamama idlula iminyaka engu-35, kwavela lesi sifo landa ngamaphesenti angu ezintathu. Futhi omdala obelethayo, nengozi isuke inkulu ukuthi ingane ngeke trisomy 21. Ngakho, ingozi yokuba ingane ogulayo abesifazane engamashumi amabili nanhlanu ubudala 1 ingane izingane 1250, futhi ngemva amane - 1 ingane-30 izinsana. Kufanele kuqashelwe ukuthi iminyaka zikababa akunamthelela okuvela kuyo lesi sifo. Owesifazane abane-Down syndrome bangase babe nomntwana egula okungenzeka amaphesenti ayisihlanu amadoda nge isifo - kukhona nenzalo. Abazali abanombono ingane nale sifo, ingozi trisomy 21, ingane amaphesenti omunye wesibili.

Izindlela ze-ukuzimisela chromosomal kwezinso

Wonke umuntu wesifazane ihlela uzokhulelwa, ukukhathazeka ngempilo ikusasa ingane yakho. imithi zanamuhla zisenza sikwazi ukubona ukuthuthukiswa eziningi sokugembula we ingane esibelethweni. Njengoba kushiwo ngenhla, ingozi olulindelekile ka trisomy 21 ngokuphindaphindiwe kwandisa omama ubudala. Ngoba labo abesifazana abanhliziyo yobudala isengozini, linqume ukuhlolwa e senyanga yokuqala sokukhulelwa. Kodwa hhayi kuphela ubudala bangaba isizathu lapho udokotela kunezinto ezikhathazayo-fetus angagcina trisomy 21. Izinga lapho ukuhlaziywa babelwe:

• zokugula azalwa naso e ukukhulelwa langaphambilini, ezifana chromosomal kwezinso;
• khona nevynoshennyh ukukhulelwa;
• khona izihlobo we abakhulelwe izifo ezinzima azalwa naso;
• izifo ezithathelwanayo ekukhulelweni ekuseni;
• njalo yokuchayeka emisebeni ye;
• lokuzalwa lokuqala nale syndrome;
• ukwamukelwa kusaqalwa zezidakamizwa teratogenic.

Ukuze ukuhlaziya igazi amasampuli wenziwa, bese isampuli wafakwa apharathasi ekhethekile, esebenzisa okuyinto kuthola khona egunjini lokuhlolwa kwezifo. Ngu ubufakazi bezimo njengoba kunqunywa trisomy 21, amagugu evamile ziyabhekelelwa kanye nezinye izinto umgomo. Lezi zihlanganisa: yobudala omama, isisindo, khona izithelo, ukuba khona noma ukungabi imikhuba emibi kanye nabanye. Kwaba ngemva ke kwenziwa ukuhlolisisa egcwele, izingozi ibalwa, kanye inkomba "trisomy 21" baqinisekisa - owesifazane umenywe kokubonisana udokotela wezifo zabesifazane, lapho etshelwa mayelana nokuba khona esolwa Down Syndrome e somntwana ongakazalwa. Owesifazane angase anqume ukuphazamisa sokukhulelwa. Kodwa ukuhlolwa imiphumela kuphela abakwazi ukunikeza ngamaphesenti ayikhulu uphethwe. Uma ukuhlaziywa inika yi omuhle, udokotela ngokuvamile limisa CVS wokubhoboza.

Izimpawu kanye Izimpawu-Down Syndrome

Njengomthetho, trisomy 21 butholakala imizuzu embalwa yokuqala yokuphila komntwana. Kunezindlela eziningana izimpawu zangaphandle ngawo udokotela singayisebenzisa kanjani ngokuphumelelayo le uphethwe. Lezi zihlanganisa:

• intamo esifushane, ekhaleni isicaba futhi ubuso, umlomo omncane, esikhulu, ulimi ngokuvamile ophumile, Mongoloid kwamehlo, i-izindlebe kancane sikhubazekile;
• okungalungile esibhakabhakeni, ulimi kanye anemifantu, ibhuloho flat ikhala;
• izingalo kanye ububanzi, izandla nomunye nesibaya, ndlela yokuhlasela yokuhlanganisa izihlangu esifushane umunwe phakathi;
• namabala amhlophe ku iris we iso;
• isisindo kancane;
• enganamandla kakhulu imisipha ithoni;
• ugobile esifubeni.

I zokugula kwezitho zangaphakathi

Singasho ukuthi abantu abaye batholakala bene-"trisomy 21", izinga co-morbidities ezifana:

• yesifo senhliziyo azalwa naso;
• ahlukahlukene izifo emathunjini ipheshana;
• ingozi yomdlavuza lingaphezulu kakhulu kunezinye abantu enempilo;
• ubuthulu;
• angaboni kahle ;
• ukulala zokuphelelwa umoya;
• ukukhuluphala;
• ukuqunjelwa;
• zibe kwezinsana;
• Alzheimer.

Trisomy 21. Izinkomba evamile ukubonakaliswa psycho-ngokomzwelo

Mhlawumbe lesi sifo ezivamile ezinganeni, okuyinto wafaka kokutshelwa ngokukhubazeka kwengane kungukuphula ukuthuthukiswa psycho-ngokomzwelo. Abantu ne trisomy 21 zokugula nzima ukufunda, lokho akusho ukuthi kufike abantu ekhaya, neze kahle. Ngokuvamile lezi zingane sezikhulile noma fuzz ft noh hujan noma njengendlela esiwugwadule ngokuphelele. Laba bantu kungenzeka kakhulu bacindezelekile. Kodwa-ke kufanele kuqashelwe ukuthi lezi zingane sezikhulile obathandayo kakhulu, ayamlalela futhi ikukhonzile. Zibizwa ngokuthi "umntwana welanga."

Down Syndrome Ukwelashwa

Ngeshwa, le zokugula ngesikhathi sanamuhla alelapheki. Into kuphela engasiza abantu abanjalo - kufanele iphathe co-morbidities. Ngakho kungenzeka ukunweba ukuphila we "ilanga abantu" futhi ukuthuthukisa izinga lempilo.

Isibikezelo-Down syndrome

Eminyakeni yamuva, isilinganiso sobude bokuphila kwabantu iziyaluyalu ku-chromosome 21 kukhuphuke khudlwana. Zonke sibonga ngcono ikhwalithi ukuhlolwa kanye lokwelatshwa. Umuntu yilesi sifo angaphila izinga engamashumi amahlanu nanhlanu noma ngaphezulu. Ngenxa ukuhlanganiswa phakathi umphakathi wabantu abane-Down syndrome bangaphila impilo egcwele, izingane - ukuya ezikoleni ezivamile. Namuhla siyazi eziningi abantu wakwazi ukwenza umnikelo omkhulu empilweni yomphakathi ngisho ngibe usaziwayo.

Amathiphu Esiwusizo Abazali nezingane "solar"

Abazali owamtshela ukuthi ingane yabo iyagula-Down syndrome, zikhona izingqinamba eziningi ezihlobene ukunakekelwa okwengeziwe kanye bekhulisa ingane. Kuze kube muva nje emphakathini wethu thina ukubandlululwa abantu abanjalo. Lesi simo sengqondo siye athuthukile ngenxa yokungabikhona kolwazi. Kodwa muva nje, ukwaziswa okwengeziwe nokuningi uthola umphakathi wabantu athé ukwehluka kithi. Manje-ke kudala inqwaba izikhungo, okuyinto kungavela nabazali bazo "ingane welanga." Abenzi kuphela musa abazaba izimo abaphumelela nabahluleka nakho, kodwa futhi nokuba ngifundise izingane ziyakujabulela ukuzivumelanisa nobunzima yasekhaya futhi ukuhlanganisa emphakathini wanamuhla. Kubalulekile ukubhekana hhayi kuphela ukuthuthukiswa nangokwengqondo wengane, kodwa futhi ngokomzimba. Imiphumela emihle nika umsebenzi yokwelapha kanye occupational therapy. Kuyadingeka ukuba ukufundisa ingane ukukhonza ngokwabo. Kubalulekile ukuba bahlanganyele ingane "libalele 'kusukela esewusana. Kukhona amasu amaningi sokuthuthukiswa lezi zingane. Futhi uma abantu abaseduze ukusiza ingane yakho ukubhekana ngokuphumelelayo isici esikhethekile, kungenzeka ukuthi ingane cishe ngeke zihluke ontanga yabo. Akakwazi vele uye esikoleni esivamile, kodwa futhi ukufunda imisebenzi ethile, futhi ngaleyo ndlela babe ilunga eliphelele umphakathi.