Ziyini izimbangela ze- Down Syndrome ? Zikhona izinhlobo ezahlukene? Ingabe kukhona okumele ukwenze ukuze unciphise ingozi uzoba nengane nge-Down Syndrome? Ungakwazi yini ukubikezela ingozi yakho ngokusekelwe eminyakeni yakho? Lezi zimbalwa nje zemibuzo abazali abazoba nayo futhi abanye bayabuza.
Kuyini I-Down Syndrome?
I-Down syndrome ibhekisela kwizici ezithile ezenzeka ezinganeni nakubantu abadala abanenombolo engavamile ye-chromosomes yenombolo engu-21.
Njengabantu, sinama-chromosomes angu-46 noma ama-chromosomes angu-23. Amabhulozi angu-22 abhekwa njengama-autosome, kanti elinye i-chromosomes yobulili-noma i-XY yomfana kanye no-XX ngentombazane.
I-Down syndrome-trisomy 21-ivela uma kunezinhlobo ezingu-3 kunezinombolo ezingu-21 zama-chromosomes (ngakho-ke, i-trisomy 21).
Ukuqonda i-Genetics
Uhlobo oluvame kakhulu lwe-Down syndrome-ephelele i-trisomy 21-livela njengomphumela wenqubo ebizwa ngokuthi i-nondisjunction. Uma iseli lihlukanisa, elinye lamabili ama-chromosomes liya kwindodakazi ngayinye ngayinye. Ngesixhumanisi, ama-chromosomes amabili womabili ayahlukanisi kahle okwenza amakhophi angu-2 we-chromosome aya esitokisini esisodwa futhi awekho amakhophi aya kwelinye iseli. Iseli elithola amakhophi angu-2 e-chromosome engama-21 inesibopho se-Down's syndrome.
Iningi lama-trisomie (amakhophi angu-3 ama-chromosomes) awahambisani nokuphila. Kubantu abadala, i-trisomy 21 iholela ku-Down syndrome.
Kunamanye ama- trisomi futhi . Izinsana ezine- trisomy 18 , i-Edwards syndrome, kungenzeka manje ngezinye izikhathi zisinde ebuntwaneni. I-Klinefelter's syndrome (47 i-XXY) yenzeka ku-1 kwabantwana abangu-500.
Izinhlobo
Ukuze uqonde kangcono izakhi zofuzo ze-Down syndrome kubalulekile ukuba uqale uchaze izinhlobo ezahlukene.
Gcwalisa i-Trisomy 21 - I-trisomy Complete 21 iphelele njengoba kuchazwe ngenhla, ngenqubo ebizwa ngokuthi i-nondisjunction.
I-Translocation Down syndrome noma i-Translocation Trisomy 21 -Inqubo yokudlulisa i-Down syndrome ivame ukuqala ngaphambi kokukhulelwa komzali onalo hlobo lwe-Down syndrome.
Esikhathini sokudluliselwa kwamandla, ingxenye ye-chromosome eyodwa ihlukana futhi ixhunywe kwenye i-chromosome ngesikhathi se-meiosis-inqubo yokwahlukana kwamaseli okwenzeka ekwakheni amaqanda nesidoda. Le nqubo ibangele amakhophi angu-3 e-chromosome 21, kodwa ikhophi eyodwa ifakwe kwenye i-chromosome, ngokuvamile i-chromosome 14. Ngamanye amazwi, umntwana (umzali onjalo) uphela ngama-chromosomes angu-45, kodwa uhlala futhi usebenza ngokuvamile ngoba wonke izinto eziphathelene nobulili ezidingekayo kwi-chromosome yesi-21 isesekhona. Labazali abanokuthi "ukulinganisela" ukudluliselwa akunazo izici ze-Down syndrome.
Uma laba bazali banezingane, noma kunjalo, izinsana ziphela ngamakhophi angu-3 we-chromosome 21, kodwa ngokungafani ne-nondisjunction trisomy, i-chromosome eyengeziwe ifakwe kwenye i-chromosome. Funda kabanzi mayelana nokuthutha .
UMoseic Down Syndrome - I- Mosaic Down syndrome yiyona ndlela ejwayelekile kakhulu ye-Down syndrome futhi kwenzeka njengomphumela wezinguquko zofuzo ezenzeka emva kokukhulelwa. Ezinganeni ezine-mosaic Down syndrome, akuzona zonke amangqamuzana anomakhophi angu-3 we-chromosome 21.
Izimpawu ingane inayo zizotholakala ngamaphesenti amangqamuzana emzimbeni one-chromosome eyengeziwe.
Ukuthi i-Trisomy 21 ivela kanjani
Njengoba kuphawuliwe ngenhla, i-trisomy 21 ingenzeka ngokusebenzisa izinqubo ze-nondisjunction noma i-translocation phakathi nokuhlukaniswa kweseli. Akekho oqiniseka ukuthi kungani lezi "zengozi" ehlukaniswa ngamaseli zenzeka, futhi empeleni, ucabangela inani elikhulu lezingqamuzana zamangqamuzana ezenziwa kusukela ekubunjweni kwe-gametes (umuthi namaqanda) kumntwana osanda kuzalwa, kuyamangalisa lokhu akusho kwenzeke njalo.
Ezingxenyeni ezingu-90% zezingane, i-chromosome eyengeziwe iphuma kumama (iqanda).
Cishe u-4% wesikhathi esivela kubaba (insimu) futhi isikhathi sonke senzeke ngemuva kokukhulelwa.
Izingozi Zezingozi
Okuwukuphela kwengozi eyaziwayo engozini ye-Down syndrome ngalesi sikhathi kufaka:
- Ukwandisa iminyaka yobudala
- Ukuba nengane yangaphambilini ene-Down syndrome
- Ukuba nomlando womndeni we-Down syndrome
Kubalulekile ukuqaphela ukuthi izici ezimbili zokubeka ingozi ziyizinto eziyingozi kuphela ngenxa yokudluliselwa kwe-trisomy 21, ngakho-ke yizici ezingozini ezingaphansi kwama-5% amacala we-Down syndrome.
Kubalulekile ukuqaphela ukuthi ayikho imvelo (njengama-toxins, i-carcinogens, njll) noma izici zokuziphatha ezixhunyaniswe nokuthuthukiswa kwe-Down syndrome. Okunye ngaphandle kokukhula ngeminyaka yobudala, kubonakala sengathi kwenzeka ngokungahleliwe.
Ubudala bomama
Isigameko se-Down syndrome sanda ngokucacile ngeminyaka yobudala, nakuba kubalulekile ukuqaphela ukuthi cishe izingane ezingu-80 zine-Down syndrome zizelwe abesifazane abangaphansi kweminyaka engama-35 ubudala.
Ingozi ye-Down syndrome eneminyaka yobudala:
- Ubuneminyaka engu-25 - 1 ku-1,200
- I-age 30 - 1 ngo-900
- Ubuneminyaka engu-35 - 1 ngo-350
- Ubudala obungama-40 - 1 ku-100
- Uneminyaka engu-45 - 1 ku-30
- Ubuneminyaka engu-49 - 1 ku-10
Ingozi Ekhulayo Ngokuzalwa Kwesikhathi Esizayo
Uma abazali banezingane ezine-Down syndrome, le ngozi yokuba nomunye ingane ene-Down syndrome ingu-1 ku-100. Kodwa kuye ngokuthi uhlobo lwe-Down syndrome le ngozi ingase ibe ephakeme noma ephansi.
Lapho ingane isusa i-Down syndrome, ukululekwa ngokwezakhi kungasiza ekunqumeni ukuthi umama, ubaba, noma abathwali bezinkampani, ngakho-ke ingozi ekukhulelweni okuzayo.
Ingabe Ifa?
Uhlobo olulodwa kuphela lwe-Down syndrome-translocation Down syndrome-lubhekwa njengefa. Njengoba lolu hlobo lwe-Down syndrome lubalelwa ku-4% kuphela lwamacala e-Down syndrome, bese-ke, kuphela i-1/3 rd yalezi zingane zicatshangwa ukuthi zizuze i-translocation, kuphela u-1% we-Down syndrome okwamanje "uyifa."
Kwabazali bomntwana onesifo se-Down syndrome ngenxa ye-translocation, kungase kube khona amathuba okwanda kwe-Down syndrome ekukhulelweni okuzayo. Lokhu kungenxa yokuthi omunye wabazali abangu-2 angase abe umphathi othintekayo we-translocation. Ngezinye izikhathi akekho umzali wengane ene-transmation trisomy 21 engumsizakalo olinganiselayo, futhi esimweni esinjalo akuyona ingozi eyengeziwe yokwehla kwe-Down syndrome esikhathini esizayo sokukhulelwa. Ngokuphathelene nokwelulekwa kwezakhi zofuzo, kubalulekile ukuthi abazali bomntwana onokudluliselwa kwemoto bazi ukuthi ezinye izingane zabo zingabathwali be-translocation elinganisiwe, futhi ngokwabo bangabungozi bokuba nengane ene-Down syndrome esikhathini esizayo.
Ukuhlolwa kokubeletha
Izithandani eziningi zincoma ukuthi abesifazane abakhulelwe abaneminyaka engama-35 noma ngaphezulu bayahlolwa ukuhlolwa kwangaphambi kokubeletha kwe-Down syndrome. Lesi yisinqumo somuntu siqu futhi siyisiqondiso kuphela. Abantu abashadile bangakhetha ukuhlolwa ngesikhathi esincane noma ukuhlolwa kwe-forego ekudala.
Ukululekwa nge-Genetic
Kuye ngokuhlolwa okucutshangwayo, nomlando womuntu siqu nomndeni wezimo zezokwelapha, ezinye imibhangqwana zikhetha ukubhekana nokwelulekwa kwezakhi zofuzo. Lokhu kunenzuzo ngezindlela ezimbalwa
- Ubudala bomama kuphela abuzobikezela cishe ukuzalwa okungama-80% wabantwana abane-Down syndrome, ngakolunye uhlangothi, futhi kungaba nezinye izingozi zokukhulelwa kwabesifazane abangaphezu kweminyaka engama-35.
- Kukhona ezinye izifo zofuzo, ezifana nokungafani kwe-chromosome yobulili engatholakala kwezinye, kodwa hhayi ezinye, izivivinyo ngokuvamile ezenzelwe i-Down syndrome.
- Ezinye izifo zofuzo zigijimela emindeni esingazihlolisisi.
Omunye umbuzo obalulekile okufanele ubuze ngaphambi kokuhlolwa kungani ungathanda ukwazi uma ingane yakho ine-Down syndrome. Ungenza noma yini ehlukile? Ucabanga ukuthi kuzokusiza ukulungiselela ikusasa? Umeluleki wezakhi zofuzo angakusiza ukuthi ubuze le mibuzo futhi wenze izinqumo ezikuhle kuwe mayelana nokuhlolwa.
Izinketho zokuhlola
Kunezinketho eziningana zokuhlola ezikhona nge-Down syndrome, ngayinye eyenziwa ngesikhathi esithile sokukhulelwa, nokuba nezinga elihlukile lokuzwela, ukucaca, kanye nezindlela ezingamanga (imibono yezokwelapha okusho ngokuyisisekelo ikhono lokuthatha into ngaphandle kwabazali abesabisayo ngesizathu .) Ezinye zezivivinyo ezitholakala zifaka:
- Ukuhlolwa kwe-Serum alpha-fetoprotein - Funda mayelana nokuphikisana kwe-alpha-fetoprotein, i-triple, i-quad, noma ukuhlolwa kwe-penta.
- Ukuhlolwa kwe-Ultrasound - Ukuhlolwa kwe-Nuchal ngokunyanga kwe-syndrome ephansi ngokuvamile kwenziwa phakathi kwamaviki angu-11 no-14.
- I-Amniocentesis - Amniocentesis ye-Down syndrome ivame ukwenza phakathi kwamaviki angu-15 no-20.
- Isampula ye-chorionic villus - Isibonelo sakwaChornionic villus ngokuvamile senziwa phakathi kwamaviki ayishumi nambili.
Ngaphansi
Uma ungumzali ucabanga ngokuvivinya i-Down syndrome, lokhu kungaba yisikhathi esikhulu kakhulu. Akukho okubaluleke kakhulu kithi kunempilo nenjabulo yezingane zethu kanye nezingane ezizayo. Uma ucabangela lokhu, cabangela umcabango owodwa ngaphambi kokuba uhambe.
Uma unomntwana onesifo se-Down syndrome, ingabe lo mntwana wayeyojabula? Ngokuqinisekile, ikakhulukazi kwezinye zezinkinga zezokwelapha ezihambisanayo , ukuba nengane ene-Down syndrome kungaba nzima kubazali. Kunjalo nakanjani. Kodwa ungabona ukumomotheka? Ubona kangaki izingane (nabantu abadala) abane-Down syndrome bemomotheka? Abaningi benu bayothi "kaningi." Manje cabanga ngezinye izingane kanye nabantu abadala abahlakaniphile obuphezulu abasebenza kakhulu. Uyabona ukumomotheka okuningi?
Lokhu kuphawula akusho ukuthi kunganciphisa ukwesaba. Lokho ukwesaba kuyiqiniso futhi kubalulekile ukuphuma ngaphandle. Kodwa njengabazali, ngokuvamile sithi ithemba lethu elikhulu kakhulu ukuthi izingane zethu ziyoba nokuphila "okujabulisayo" nokuthi injabulo ayixhomeke njalo ekubeni ne-IQ ephezulu, noma ibukeka njengabo bonke abantu. Eqinisweni, izingane eziningi kanye nabantu abadala abane-Down syndrome kubonakala bekwazi ukumomotheka ngezikhathi lapho labo abangenayo i-syndrome babanjwa, njengokugqumisa ngezinto esingeke sishintshe esikhathini esidlule noma sikhathazeke noma besabe ikusasa.
Ngaphezu kwalokho, naphezu kwezimo zezokwelapha ezihlobene ne-Down syndrome, cishe izingane ezingu-80 ezizalwa nge-Down syndrome namuhla zilindeleke ukuba zifinyelele eminyakeni engama-60.
Uma ucabanga ngokuhlola, noma ufunde ukuthi ungaba nengane ene-Down syndrome, thatha umzuzwana ukufunda le mzali kumzali omusha onomntwana one-Down syndrome.
Imithombo:
I-National Institute of Child and Development. Yini ebangela i-Down syndrome? Kubuyekezwe 01/17/14.