Kuyini i-Down Syndrome? Izimpawu, Izimbangela, Nokwelapha

I-Down syndrome yisimo se-genetic esenzeka lapho umuntu ezalwa enekhophi eyengeziwe ye-chromosome 21. Lolu lwengeziwe lwe-genetic material lushintsha indlela umzimba nobuchopho bomntwana obukhula ngayo, okuholela ekuhlukaneni kokubili komzimba nangokwengqondo.

Cishe umntwana oyedwa kwabayi-700 e-United States uzalwa ene-Down syndrome, okwenza kube yisimo esivamile kakhulu se-chromosomal. Abantu abane-Down syndrome bangaphila impilo egcwele, ezazimele ngokusekelwa okufanele nokunakekelwa.

Kuyini i-Down Syndrome?

I-Down syndrome ivela lapho amaseli enama-chromosome angu-47 esikhundleni se-46 evamile. I-chromosome eyengeziwe engu-21 ithonya indlela umzimba okhula futhi usebenza ngayo kusukela ekuzalweni.

Lesi simo saqala saqondwa uDkt. John Langdon Down ngo-1866, okuyindlela esithola ngayo igama. Namuhla, siqonda ukuthi iyindlela ehlukahlukene ye-genetic eyenzeka ngokwemvelo engase ienzeke kunoma iyiphi imindeni, kungakhathaliseki uhlanga, ubuzwe, noma isizinda sezomnotho.

Abantu abane-Down syndrome bahlanganyela izici ezithile zomzimba, kodwa umuntu ngamunye uhlukile ngebuntu lakhe, amakhono, namandla. Abaningi baphila impilo ezazimele, baqasha imisebenzi, bakha ubuhlobo, futhi benegalelo elibalulekile emphakathini wabo.

Ziyini Izinhlobo ze-Down Syndrome?

Kunezinhlobo ezintathu eziyinhloko ze-Down syndrome, ngayinye ibangelwa ukuguqulwa okuhlukile kwe-genetic. Uhlobo oluvamile kakhulu luthinta cishe abantu abayi-95% abanesimo.

I-Trisomy 21 uhlobo oluvamile kakhulu, lapho wonke amakheli emzimbeni enamakhopi amathathu e-chromosome 21 esikhundleni sezibili. Lokhu kwenzeka ngesikhathi sokwenziwa kwamaseli okuzala futhi kuchaza iningi lamacala.

I-Translocation Down syndrome ivela lapho ingxenye ye-chromosome 21 inamathela kwenye i-chromosome. Lolu hlobo luthinta cishe abantu abayi-3-4% abane-Down syndrome futhi ngezinye izikhathi lungadluliselwa kubazali.

I-Mosaic Down syndrome uhlobo oluyimfihlo kakhulu, oluthinta abantu abayi-1-2% kuphela. Kulolu hlobo, amanye amaseli ana i-chromosome eyengeziwe engu-21 kanti amanye awanawo, okungase kuholele ezimpawu ezilula.

Ziyini Izimpawu ze-Down Syndrome?

I-Down syndrome ithonya abantu ngezindlela ezahlukene, kodwa kunezici ezithile zomzimba nokuthuthukiswa ongaziqaphela. Akuwona wonke umuntu ozoba nazo zonke lezi zici, futhi zingase zibe lula noma zibonakale kakhulu.

Izici zomzimba zivame ukubandakanya:

• Amehlo afana ne-almond abekwe phezulu
• Ubuso obuqhele futhi obuqhele ngaphezulu kwempumulo
• Izindlebe ezincane nomlomo
• Ulwimi oluphuma
• Intamo emfushane nokuphakama okuphansi
• Izandla ezincane ngomugqa owodwa esandleni
• Ukuqina kwemisipha olukhululekile (okubizwa ngokuthi i-hypotonia)
• Izinhlangothi ezinobuningi

Lezi zici zomzimba ngokuvamile azinamona futhi zimane nje yingxenye yendlela i-Down syndrome ethinta ngayo ukubonakala. Ukuqina kwemisipha olukhululekile, noma kunjalo, kungathinta ukunyakaza nokuthuthukiswa eminyakeni yokuqala.

Ukuhlukahluka kokuthuthukiswa kuvame ukubandakanya:

• Ubuphengephenge bokucabanga obuvela kokulula kuya kokuphakathi
• Ukulibaziseka kokukhuluma nokuthuthukiswa kolwimi
• Ukulibaziseka kokuthuthukiswa kwamakhono omota (ukuhlala, ukuhamba, amakhono omota amahle)
• Ukuhlukahluka kokufunda okuthonya inkumbulo nokuqonda
• Ubunzima bokuqaphela

Khumbula ukuthi lezi zinselele azichazi amandla omuntu. Ngokusekelwa okufanele, ukuqeqeshwa, kanye nemfundo, abantu abane-Down syndrome bangafinyelela ezintweni ezimangalisayo futhi baphile impilo egcwele.

Yini ebangela i-Down Syndrome?

I-Down syndrome ivela ngenxa yephutha ngesikhathi sokuhlukaniswa kwamaseli okuholela kwi-chromosome eyengeziwe engu-21. Lokhu kwenzeka ngokungahleliwe futhi ngokwemvelo ngesikhathi sokwenziwa kwamaseli okuzala.

Imbangela evamile kakhulu ibizwa ngokuthi "i-nondisjunction," okusho ukuthi ama-chromosome awabelani kahle ngesikhathi sokuhlukaniswa kwamaseli. Uma lokhu kwenzeka eselini leqanda noma lesidoda, umntwana ophuma ekugcineni uba nama-chromosome amathathu angu-21 esikhundleni sezibili ezivamile.

Lolu shintsho lwe-genetic lungahleliwe futhi alubangelwa yilutho abazali abalwenzile noma abangazange balwenze. Aluhlobene nokudla, indlela yokuphila, izici zemvelo, noma noma yini eyenzeke ngesikhathi sokukhulelwa.

Ezimweni ezingavamile ezihilela i-translocation Down syndrome, omunye umzali angaba ne-chromosome ehlanganisiwe eyandisa amathuba okuba nomntwana one-Down syndrome. Noma kunjalo, iningi lamacala livela ngokungahleliwe ngaphandle komlando womndeni.

Ziyini Izici Zengozi ze-Down Syndrome?

Isifo esiyinhloko sokuthola i-Down syndrome yi-maternal age, nakuba abantwana abanesimo bazalwa kumama abazo zonke iminyaka. Ukuqonda lezi zici kungakusiza wenze izinqumo ezinolwazi mayelana nokunakekelwa kwangaphambi kokuzalwa.

Izici eziyinhloko zengozi zibandakanya:

• Iminyaka yomzali omkhulu ngaphezu kweminyaka engu-35 (ingozi iyanda kancane ngeminyaka)
• Umnwana wangaphambili one-Down syndrome
• Ukuba ngumthwali we-genetic translocation (okungavamile)
• Iminyaka yobaba engaphezu kweminyaka engu-40 (ukwanda kancane kengozi)

Kubalulekile ukuqonda ukuthi ukuba nezici zengozi akusho ukuthi umntwana wakho uzoba ne-Down syndrome. Abantwana abaningi abane-Down syndrome bazalwa kumama abancane, futhi iningi lamama amadala linabantwana abangenazo izimo ze-chromosomal.

Ingozi iyanda ngeminyaka yomzali omkhulu ngoba amaqanda amadala anethuba elikhulu lokuba neziphambeko ngesikhathi sokuhlukaniswa kwamaseli. Eminyakeni engu-35, ingozi cishe iy-1 ku-350, kanti eminyakeni engu-45, cishe iy-1 ku-30.

Ziyini Izingozi Ezingase Zenzeke kwi-Down Syndrome?

Abantu abane-Down syndrome bangase bahlangane nezinselele ezithile zezempilo ekuphileni kwabo konke, kodwa iningi lalezi zingaphathwa kahle ngokunakekelwa okufanele kwezokwelapha. Ukuhlola okuvamile nokungenelela kwangaphambi kwesikhathi kwenza umehluko omkhulu.

Ukukhathazeka okuvamile kwezempilo kubandakanya:

• Ukuhluleka kwenhliziyo (kuvela cishe ku-40-50% yabantwana)
• Izinkinga zokuzwa nokutheleleka kwelindlebe okuvamile
• Izinkinga zobumona kufaka phakathi i-cataracts ne-refractive errors
• I-sleep apnea ngenxa yokwahlukahluka komoya
• Izinkinga ze-thyroid
• Izinkinga zokugaya ukudla njenge-constipation noma i-celiac disease
• Ukukhula komngcipheko wokutheleleka

Lezi zimo zizwakala zikhathaza, kodwa khumbula ukuthi iningi lingaphathwa ngempumelelo. Isibonelo, ukuhluleka kwenhliziyo kuvame ukulungiswa ngokuhlinzwa, kuvumela abantwana ukuba baphile impilo esebenzayo, enempilo.

Izingozi ezingavamile kodwa ezinzima kakhulu zingase zibandakanye:

• Ubuphengephenge bokucabanga obukhulu
• I-Leukemia (ingozi encane ephakeme)
• I-Alzheimer's disease (ingozi ephakeme kubantu abadala)
• I-Atlantoaxial instability (ukungazinzi komgogodla wentamo)
• Ukuhluleka kwenhliziyo okunzima okudinga ukuhlinzwa okuningi

Ukuqapha okuvamile kwezokwelapha kusiza ukubamba lezi zinkinga ngokushesha lapho zitholakala khona. Iqembu lakho lezempilo lizokwenza uhlelo lokunakekelwa oluqondene nezidingo zomntwana wakho.

I-Down Syndrome Ihlonishwa Kanjani?

I-Down syndrome ingatholakala ngaphambi kokuzalwa ngokuhlolwa kokuhlola noma kuqinisekiswe ngokuhlolwa kokuxilonga. Ngemva kokuzalwa, odokotela ngokuvamile bangakwazi ukuqaphela isimo ngokusekelwe ezicini zomzimba kanye nokuxilongwa kwe-genetic.

Ngesikhathi sokukhulelwa, ukuhlolwa kokuhlola kungabonisa ingozi ephakeme kodwa akukwazi ukuxilonga i-Down syndrome. Lokhu kubandakanya ukuhlolwa kwegazi okuqapha amaprotheni athile nama-hormone, kanye nokuhlolwa kwe-ultrasound okubuka izimpawu zomzimba.

Ukuhlolwa kokuxilonga kunikeza izimpendulo eziqondile ngokuqapha ama-chromosome ngokuqondile. I-Amniocentesis ne-chorionic villus sampling (CVS) zingakuqinisekisa i-Down syndrome ngesikhathi sokukhulelwa, nakuba zithwala ingozi encane yokuphulukana nokubeletha.

Ngemva kokuzalwa, odokotela bavame ukusola i-Down syndrome ngokusekelwe ezicini zomzimba kanye nezindlela zokuthuthukiswa. Ukuhlolwa okulula kwegazi okuthiwa yi-karyotype kungakuqinisekisa ukuxilongwa ngokubonisa i-chromosome eyengeziwe engu-21.

Yini Ukwelapha kwe-Down Syndrome?

Nakuba kungekho ukwelapha i-Down syndrome, ukungenelela kwangaphambi kwesikhathi kanye nokuqeqeshwa okusekela kungasiza abantu ukuba bafinyelele amandla abo aphelele. Ukwelapha kugxile ekunakekeleni izidingo ezithile zezempilo nokusekela ukuthuthukiswa.

Izinsizakalo zokungenelela kwangaphambi kwesikhathi ngokuvamile zibandakanya:

• Ukuqeqeshwa komzimba ukuthuthukisa ukuqina kwemisipha namakhono omota
• Ukuqeqeshwa kokukhuluma ukuze kusekelwe ukuthuthukiswa kokuxhumana
• Ukuqeqeshwa kokusebenza kwamakhono okuphila kwansuku zonke
• Izinhlelo zemfundo ekhethekile eziqondene nezidingo zokufunda
• Ukuphathwa kwezokwelapha kwezimo zezempilo ezihambisanayo

Lezi nsizakalo zisebenza kangcono lapho ziqalwa ngokushesha okukhulu, ngokukhethekile ebuntwaneni. Imiphakathi eminingi inikeza izinhlelo eziphelele zokungenelela kwangaphambi kwesikhathi ezenzelwe ngokukhethekile abantwana abane-Down syndrome.

Ukuphathwa kwezokwelapha kunakekela izinkinga ezithile zezempilo njengoba zivela. Lokhu kungase kubandakanye ukuhlinzwa kwenhliziyo ngenxa yokuhluleka kwenhliziyo, izinto zokuzwa ngenxa yokulahleka kokuzwa, noma imithi ye-thyroid ngenxa yezinkinga ze-thyroid.

Kuyo yonke impilo, abantu abane-Down syndrome bazuza ekusekelweni okuqhubekayo emfundweni, emisebenzini, nakumakhono okuphila okwaziyo. Abantu abaningi abadala abane-Down syndrome basebenza, bahlala ngokuzimele noma ngokuzimele ngokulinganisela, futhi bagcina ubuhlobo obukhulu.

Unganakekela Kanjani Ekhaya Ngesikhathi se-Down Syndrome?

Ukukhathalela umntwana one-Down syndrome ekhaya kubandakanya ukudala indawo yokusekela, ekhuthaza ukuthuthukiswa ngenkathi uhlangabezana nezidingo zakhe ezihlukile. Uthando lwakho nokuzinza kwenza umehluko omkhulu.

Gxilisa ekuqaliseni amasiko asiza umntwana wakho ukuba azizwe ekhululekile futhi eqinisekile. Abantwana abane-Down syndrome bavame ukuthuthuka ngamashejuli abikezelwayo nethemba elicacile.

Khuthaza ukuzimela ngokuhlukanisa imisebenzi ezinzwaneni ezincane, ezilawuleka. Gubha izinqoba ezincane futhi ubekezelele inqubo yokufunda, njengoba ukuthuthukiswa kungase kwenzeke kancane kodwa kuwuthuthuko obalulekile.

Hlala uxhumana neqembu lakho lezempilo nabaphakeli bokuqeqeshwa. Ukuxhumana okuvamile kusiza ukuqinisekisa ukuthi umntwana wakho uthola ukunakekelwa okuqhubekayo kuzo zonke izindawo.

Ungakhohlwa ukunakekela wena nomndeni wakho. Ukukhathalela umntwana onezidingo ezikhethekile kungase kube nzima, futhi ukufuna ukusekelwa kwamanye imindeni, amaqembu okusekela, noma izinsizakalo zokunakekelwa okuphazamisekile kuyinto evamile futhi ewusizo.

Nini Okufanele Ubone Udokotela Nge-Down Syndrome?

Uma uthola ukuthi umntwana wakho angase abe ne-Down syndrome, kubalulekile ukuxoxa ngokukhathazeka kwakho nodokotela wakho ngokushesha okukhulu. Ukuxilongwa kwangaphambi kwesikhathi kuholela ezimpumelelweni ezinhle ngezinsizakalo zokungenelela ngokushesha.

Funani ukunakekelwa kwezokwelapha ngokushesha uma umntwana wakho one-Down syndrome ebonisa izimpawu zezingozi ezinkulu njengokuphefumula okunzima, ukukhathala okukhulu, noma ukushintsha kokuziphatha okungase kubonise izinkinga zenhliziyo.

Ukuhlola okuvamile kubalulekile ekuqapheni ukukhula, ukuthuthukiswa, kanye nokuhlola izimo zezempilo ezihambisanayo. Udokotela wakho uzokuncoma isimiso esithile esisekelwe ezidingweni zomntwana wakho.

Xhumana nodokotela wakho uma uqaphela izimpawu ezintsha, ukuwohloka kokuthuthukiswa, noma uma umntwana wakho ebonakala ehlupheka kakhulu kunokuvamile ngemisebenzi yansuku zonke.

Kufanele Uzilungiselele Kanjani Ukuya Kulo Dokotela?

Ukulungiselela ukuya kudokotela kusiza ukuqinisekisa ukuthi uthola okuningi ngesikhathi sakho nabaphakeli bezempilo. Letha uhlu lwemithi yamanje, izimpawu zakamuva, nanoma yimiphi imibuzo ofuna ukuyixoxa.

Gcina irekhodi lemigomo yokuqhubekela phambili yomntwana wakho, ngisho noma iphelile kamuva kunokuvamile. Lolu lwazi lusiza odokotela ukuba baqaphe intuthuko futhi balungise izinhlelo zokwelapha.

Ungangabazi ukubuza imibuzo mayelana nanoma yini ongayiqondi. Cela ulwazi olubhaliwe noma izinsiza ezingakusiza ukusekela kangcono umntwana wakho ekhaya.

Cabanga ukuletha ilungu lomndeni noma umngani ukusekela, ikakhulukazi ngezikhathi zokubonisana okubalulekile noma lapho uxoxa ngezinketho zokwelapha.

I-Down Syndrome Ingavikeleka Kanjani?

I-Down syndrome ayikwazi ukugwemeka ngoba ivela ngenxa yesenzakalo se-genetic esingahleliwe ngesikhathi sokwenziwa kwamaseli. Noma kunjalo, ukuqonda izici zengozi kungakusiza wenze izinqumo ezinolwazi mayelana nohlelo lokuzalwa komndeni nokunakekelwa kwangaphambi kokuzalwa.

Ukubonisana kwe-genetic ngaphambi kokukhulelwa kungakusiza uqonde izici zakho zengozi futhi uxoxe ngezinketho zokuhlola ezitholakalayo. Lokhu kuwusizo ikakhulukazi uma unemlando womndeni wezimo ze-chromosomal.

Uma uhlela ukukhulelwa, ukugcina impilo enhle ngokudla okufanele, amavithamini angaphambi kokuzalwa, kanye nokunakekelwa okuvamile kwezokwelapha kusekela umphumela omuhle kakhulu wokukhulelwa.

Khumbula ukuthi iningi labantwana abane-Down syndrome bazalwa kubazali abangenazo izici zengozi ezaziwayo, futhi ukuba nezici zengozi akusho ukuthi umntwana wakho uzoba nesimo.

Yini Okubalulekile Mayelana ne-Down Syndrome?

I-Down syndrome yisimo se-genetic esithinta ukuthuthukiswa nokufunda, kodwa ayivimbeli abantu ukuba baphile impilo enenjongo, egcwele. Ngokusekelwa okufanele, ukunakekelwa kwezokwelapha, namathuba emfundo, abantu abane-Down syndrome bangafinyelela ezintweni ezimangalisayo.

Ukungenelela kwangaphambi kwesikhathi nokusekelwa okuqhubekayo kwenza umehluko omkhulu ezimpumelelweni. Izinkonzo eziqala ngokushesha, amathuba angcono umntwana wakho anawo okuthuthukisa amandla akhe aphelele.

Umuntu ngamunye one-Down syndrome uhlukile, ngamandla akhe, izinselele, nobuntu. Gxila entuthukweni yomntwana wakho kunokumqhathanisa nabanye.

Khumbula ukuthi awuwedwa kule ndlela. Kunezinto eziningi, amaqembu okusekela, nabachwepheshe abalungele ukukusiza wena nomndeni wakho ukuba ukhule ndawonye.

Imibuzo Evamile Ebuzwayo Mayelana ne-Down Syndrome

Q1: Yini isikhathi sokuphila sabantu abane-Down syndrome?

Isikhathi sokuphila sabantu abane-Down syndrome siye saqina kakhulu eminyakeni embalwa edlule. Namuhla, abantu abaningi abane-Down syndrome baphila eminyakeni yabo engu-60 nangaphezulu, abanye befika eminyakeni engu-70 noma engu-80. Ukuthuthuka kwenzeka kakhulu ngenxa yokunakekelwa kwezokwelapha okungcono, ukungenelela kwangaphambi kwesikhathi, nokuphathwa kwezimo zezempilo ezihambisanayo njengokuhluleka kwenhliziyo. Isikhathi sokuphila somuntu siqu siyacishe sibe yinto ebalulekile, ukuba khona kwezingozi, kanye nokufinyelela ekuqaphelweni kwezokwelapha okuhle ekuphileni konke.

Q2: Abantu abane-Down syndrome bangaba nabantwana?

Yebo, abanye abantu abane-Down syndrome bangaba nabantwana, nakuba amanani okukhulelwa aphansi kunabantu abavamile. Abafazi abane-Down syndrome bangakhulelwa futhi babe nabantwana, nakuba bangase bahlangane nezingozi eziphakeme ngesikhathi sokukhulelwa futhi abantwana babo banethuba elingu-50% lokuba ne-Down syndrome. Amadoda ane-Down syndrome ngokuvamile awanalo amandla okuzala ngenxa yokukhiqizwa okuncane kwama-sperm. Noma ubani one-Down syndrome ocabanga ngokuba nomntwana kufanele asebenze eduze nabaphakeli bezempilo ukuze aqonde izingozi futhi athole ukusekelwa okufanele.

Q3: Yiliphi izinga lokuzimela abantu abane-Down syndrome abangakwazi ukulifinyelela?

Izinga lokuzimela liyahluka kakhulu phakathi kwabantu abane-Down syndrome, kodwa abaningi bangafinyelela ekuzimeleni okukhulu ngokusekelwa okufanele. Abanye abantu bahlala ngokuzimele, baqasha imisebenzi, baphathe imali yabo, futhi bagcine ubuhlobo. Abanye bangase badinge ukusekelwa okwengeziwe ngemisebenzi yansuku zonke kodwa bangase bahlanganyele ngokunenjongo emphakathini wabo. Izici eziyinhloko zibandakanya ukungenelela kwangaphambi kwesikhathi, imfundo enhle, ukusekelwa komndeni, namakhono omuntu. Abantu abaningi abane-Down syndrome bangafunda amakhono okuzinakekela, basebenze emisebenzini esekelwayo, futhi bajabulele imisebenzi yokuphumula.

Q4: Ingabe kukhona imithi noma izithasiselo ezisiza nge-Down syndrome?

Okwamanje, ayikho imithi ephila i-Down syndrome ngokwayo, kodwa izindlela ezahlukene zokwelapha zingase zikwazi ukunakekela izimo zezempilo ezihambisanayo. Isibonelo, imithi ye-thyroid iphila i-hypothyroidism, kanti imithi yenhliziyo ilawula izinkinga zenhliziyo. Ucwaningo oluthile luhlola izindlela ezingase zisebenze zokwelapha izimpawu zokucabanga, kodwa ayikho izindlela zokwelapha eziqinisekisiwe okwamanje. Qaphela izithasiselo noma izindlela zokwelapha ezingaqinisekiswanga ezithengiswa nge-Down syndrome. Hlala ukhulumisana nodokotela wakho ngaphambi kokuqala noma iyiphi imithi emisha noma izithasiselo.

Q5: Ngingawusekela kanjani ilungu lomndeni noma umngani one-Down syndrome?

Indlela engcono kakhulu yokusekela umuntu one-Down syndrome iwukumbheka ngenhlonipho futhi ugxile emakhonweni akhe kunokulinganiselwa. Mbumbathisa emisebenzini yomndeni nasemihlanganweni yomphakathi, xhumana naye ngokuqondile kunokusebenzisa abaphathi, futhi ubekezelele ukwahlukahluka kokuxhumana. Nikeza usizo olusebenzayo uma kudingeka, kodwa ungacabangi ukuthi udinga usizo kuyo yonke into. Funda nge-Down syndrome ukuze uqonde kangcono okuhlangenwe nakho kwabo, futhi gubha izimpumelelo zabo njengoba ungenza kunoma ubani. Okubaluleke kakhulu, bona umuntu kuqala, hhayi isimo kuphela.