Ziziphi izibangela ze- Down Syndrome ? Ngaba kukho iintlobo ezahlukeneyo? Ingaba kukho nto enokuyenza ukunciphisa umngcipheko uya kuba nomntwana onesifo se-Down Syndrome? Ngaba unokukwazi ukuxela ingozi yakho ngokusekelwe kwiminyaka yakho? Le yimibuzo embalwa yimibuzo kubazali kwaye abanye bayabuza.
Yintoni I-Down Syndrome?
I-Down syndrome ibhekisela kwiimpawu ezithile ezenzeka kubantwana nakubantu abadala abanenombolo engavumelekanga ye-chromosomes ye-21.
Njengabantu, sinama-chromosomes angama-46 okanye ama-23 amabini ama-chromosomes. Iimbini ezi-22 zibhekwa njenge-autosome, kwaye enye ibini i-chromosomes yesini-mhlawumbi i-XY yinkwenkwana kunye ne-XX kwintombazana.
I-Down syndrome-trisomy 21-ivela xa kukho i-3 kunokuba i-chromosomes yeenombolo ezingama-21 (ngoko ke, i-trisomy 21).
Ukuqonda i-Genetics
Uhlobo oluqhelekileyo lwe-Down syndrome-epheleleyo i-trisomy 21-luvela ngenxa yenkqubo ebizwa ngokuba yi-nondisjunction. Xa iseli lihlula, enye yeqela le-chromosomes iya kwintombi nganye yentombi. Nge-nondisjunction, ii-chromosomes ezimbini zebini azidibanisi kakuhle ezikhokelela kwiikopi ezi-2 ze-chromosome ziya kwelinye iseli kwaye akukho zikopi eziya kwesinye iseli. Iseli efumana iikopi ezi-2 ze-chromosome yesi-21 ixanduva lwe-Down's syndrome.
Uninzi lwamaxesha athile (iikopi ezi-3 zama-chromosomes) azihambelani nobomi. Kubantu abadala, i-trisomy 21 iphumela kwi-Down syndrome.
Kukho nezinye iimeko eziphathekayo . Iintsana ezine- trisomy 18 , i-syndrome ye-Edwards, ngoku ngoku ikwazi ukusinda ebuntwaneni. I-Klinefelter's syndrome (47 XXY) ivela kwi-1 kwiintsana ezingama-500.
Iintlobo
Ukuqonda kakuhle i-genetics ye-Down syndrome kubalulekile ukuba uqale uchaze iintlobo ezahlukeneyo.
Gcwalisa i-Trisomy 21 - Ukugqiba i-trisomy 21 kwenzeka njengoko kuchaziwe ngasentla, nge-process ebizwa ngokuba yi-nondisjunction.
Ukutshintshiselwa kwe-Down syndrome okanye iTranslocation Trisomy 21 -Inkqubo yokudlulisa i- Down syndrome iqala rhoqo ngaphambi kokuqalwa komzali womntwana onolu hlobo lwe-Down syndrome.
Kwi-translocation, inxalenye ye-chromosome iyaphula kwaye iyanamathela kwelinye i-chromosome ngethuba le-meiosis-inkqubo yokwahlukana kweeseli eyenzekayo ekwakheni amaqanda kunye nesidoda. Le nkqubo ibangela iikopi ze-chromosome ezingama-3, kodwa enye ikopi iqhotyoshelwe kwelinye i-chromosome, ngokuphindaphindiweyo i-chromosome 14. Ngamanye amazwi, umntwana (umzali onjalo) uphela ngama-chromosomes angama-45, kodwa uhlala kwaye usebenza ngokuqhelekileyo kuba onke izinto eziyimfuza ezifunekayo kwi-chromosome yesi-21 isaphila. Aba bazali "abanokulinganisela" ukufudlulela abanalo naziphi iimpawu ze-Down syndrome.
Nangona aba bazali banabantwana, ke ke, iintsana ziphela ngeikopi ze-chromosome ezingama-21, kodwa ngokungafani ne-nondisjunction trisomy, i-chromosome eyongezelelweyo ifakwe kwenye i-chromosome. Funda kabanzi malunga nokuthunyelwa .
UMosesic Down Syndrome - I- Mosaic Down syndrome yindlela eqhelekileyo ye-Down syndrome kwaye ivela ngenxa yeenguqu zezofuzo ezenzeka emva kokuchumisa. Kubantwana abane-mosaic Down syndrome, akuzona zonke iiseli ezinama-3 ikopi ye-chromosome 21.
Izimpawu ukuba umntwana uya kuzixhomekeka kwipesenti zamaseli emzimbeni onayo i-chromosome eyongezelelweyo.
Indlela iTrisomy 21 ivela ngayo
Njengoko kuphawuliwe ngasentla, i-trisomy 21 inokuvela kwiinkqubo ze-nondisjunction okanye ukudluliselwa ngexesha lohlulo lweseli. Akukho mntu uyazi isizathu sokuba le "ngengozi" ekwahlukana kweseli yenzeka, kwaye ngokwenene, ukuqwalasela inani elikhulu leeseli zesebe ezenzeka kwi-gametes (i-sperm kunye namaqanda) kwintsana esanda kuzalwa, kuyamangalisa oko kwenzeka rhoqo.
Kwi-nondisjunction, malunga ne-90% yabantwana, i-chromosome eyongezelelweyo iphuma kumama (iqanda).
Phantse i-4% yexesha elivela kubaba (i-sperm) kunye nalo lonke ixesha livela emva kokucoca.
Izinto zobungozi
Izinto eziziwayo kuphela zeengozi ze-Down syndrome ngeli xesha ziquka:
- Ukwandisa iminyaka yobudala
- Ukuba nomntwana odlulileyo ene-Down syndrome
- Ukuba nomlando weentsapho ze-Down syndrome
Kubalulekile ukuba uqaphele ukuba izinto ezimbini zokubeka ingozi zizinto ezibeka umngcipheko kuphela ngenxa yokuthunyelwa kwe-trisomy 21, kwaye ke zizinto ezinobungozi ezingaphantsi kwama-5% eengxaki ze-Down syndrome.
Kwakhona kubalulekile ukuba uqaphele ukuba ayikho nayiphi na indawo yendalo (njengetyex, i-carcinogens, njl.) Okanye izinto zokuziphatha ezidibene nokuphuhliswa kwe-Down syndrome. Ngaphandle kokunyuka kunye nobudala bomama, kubonakala ngathi kwenzeka ngeziza.
Umama woMama
Iziganeko ze-Down syndrome zikhula ngokucacileyo ngeminyaka yobudala, nangona kubalulekile ukuqaphela ukuba malunga nama-80% abantwana abane-Down syndrome bazalwa kwabasetyhini abangaphantsi kweminyaka engama-35 ubudala.
Umngcipheko we-Down syndrome oneminyaka ubudala:
- Umdala wama-25 ukuya ku-1 kwi-1,200
- Ubuneminyaka engama-30 ukuya kwe-1 ngo-900
- Ubuneminyaka 35 - 1 ngo-350
- Ubudala 40 - 1 kwi-100
- Umdala 45 - 1 ngo-30
- Ubuneminyaka engama-49 ukuya kweyoku-1 ngo-10
Umngcipheko ophezulu oza kuzalwa ngokuzayo
Ukuba abazali banomntwana one-Down syndrome, le mngcipheko wokuba nomnye umntwana onesifo se-Down syndrome ngowona-1 kwi-100. Kodwa kuxhomekeke kuhlobo lwe-Down syndrome le mngcipheko unokuba phezulu okanye ungaphantsi.
Xa umntwana usuhambisa i-Down syndrome, ukululekwa ngezofuzo kunokunceda ukuba unqume ukuba ngaba unina, ubaba, okanye ayenayo imithwalo yezinto kwaye ngoko ingozi yokukhulelwa kwangaphambili.
Ngaba Ifa?
Uhlobo olulodwa lwe-Down syndrome-ukudluliselwa kwe-Down syndrome-lubonwa njengelifa. Ekubeni lolu hlobo lwe-Down syndrome lubangele kuphela i-4% yamatyala e-Down syndrome, kwaye ke, kuphela i-1/3 yodabantwana bacingelwa ukuba bazuze ifa lokutshintshwa, kuphela i-1% ye-Down syndrome okwangoku "ifa."
Kubazali bomntwana abane-Down syndrome ngenxa yokutshintshiselwa, kunokukho ukwanda okwenyukayo kwe-Down syndrome ekukhulelwe kwangaphambili. Oku kungenxa yokuba omnye wabazali aba-2 unokuba ngumphathiswa olinganiselayo wokuthutha. Ngamanye amaxesha umzali womntwana onokutshintshela i-trisomy 21 ungumphathiswa olinganiselayo, kwaye kwimeko enjalo akukho mngcipheko we-Down syndrome ekukhulelwe kwangaphambili. Ngokubhekiselele ekucebiseni i-genetic, kubalulekile ukuba abazali bomntwana onokufuduka kwabo bazi ukuba abanye abantwana babo bangaba ngabaphathi be-translocation efanelekileyo, kwaye nabo ngokwabo bangasengozini yokuba ne-Down syndrome kwixesha elizayo.
Ukuvavanywa kwangaphambi kokubeleka
Abagqithisi abaninzi bancomela ukuba abafazi abakhulelweyo abaneminyaka engama-35 okanye ngaphezulu bavavanyelwa i-Down syndrome. Esi sinqumo somntu siqu kwaye sisisikhokelo kuphela. Ababini banokukhetha ukuvavanya ubuncinci okanye ukuhlolwa kwe-forego ekudala.
Ukululekwa ngeGenesis
Ngokuxhomekeke kwiimvavanyo ezicatshangelwayo, kunye nembali yentsapho kunye neyentsapho yeemeko zonyango, ezinye iibini ezikhethiweyo zikhetha ukufumana iingcebiso zofuzo. Oku kunenzuzo ngeendlela ezimbalwa
- Ubudala bomama kuphela abuyi kuqikelela malunga nama-80% okuzalwa kweintsana ezine-Down syndrome, ngakwesinye icala, kwaye kukho enye ingozi yokukhulelwa kwabasetyhini abangaphezu kweminyaka engama-35.
- Kukho ezinye izifo eziphathekayo, ezifana nesifo se-chromosome esingaqhelekanga esinokufunyanwa kwezinye, kodwa kungekho enye, iimvavanyo eziqhelekileyo zenziwe kwi-Down syndrome.
- Ezinye izifo zofuzo zihamba kwiintsapho esingazivavanyi.
Omnye umbuzo obalulekileyo ofuna ukuwucela ngaphambi kokuvavanya kutheni ufuna ukwazi ukuba umntwana wakho unesifo se-Down syndrome. Ngaba unokwenza okungafaniyo? Ngaba ucinga ukuba kunokukunceda ulungiselele ikamva? Umcebisi wezofuzo unokukunceda ukuba ubuze le mibuzo kwaye wenze ukhetho olulungeleyo malunga nokuhlola.
Izinketho zokuvavanya
Kukho iindlela ezininzi zokuvavanya ezifumanekayo kwi-Down syndrome, nganye eyenziwa ngexesha elithile lokukhulelwa, nokuba neqondo elihlukeneyo lobuthathaka, ubunqwenela kunye neempembelelo ezingamanga (iigqirha zonyango ezithetha ngokukodwa ukukwazi ukuthatha into ngaphandle kootshaba abazali ngaphandle kwesizathu .) Ezinye zeemvavanyo ezikhoyo ziquka:
- Ukuhlolwa kwe-Serum alpha-fetoprotein - Funda malunga neengxabano ze-alpha-fetoprotein, i-triad, i-quad, okanye i-penta.
- Ukuvavanywa kwe-ultrasound - Ukuhlolwa kwesilingo se-Nuchal ye-syndrome esezantsi kubakho rhoqo phakathi kweeyure ezili-11 ne-14.
- Amniocentesis - Amniocentesis ye-Down syndrome ivame ukuqhutyelwa phakathi kweeveki ezili-15 neye-20.
- Isampuli ye-Chorionic villus - Isampuli ye-Chornionic villus idla ngokuphakathi kweeveki ezili-10 ne-12.
Okukwintsusa
Ukuba ungumzali ucinga malunga nokuvavanywa kwe-Down syndrome, le nto ingaba ixesha elixhalabisa kakhulu. Akukho nto ibaluleke ngakumbi kuthi kunempilo nolonwabo lwabantwana bethu nabantwana bokamva. Ukuqwalasela oku, cinga ngcamango enye ngaphambi kokuba uhambe.
Ukuba unomntwana one-Down syndrome, ngaba umntwana uyavuya? Ngokuqinisekileyo, ngokukodwa kwezinye zeengxaki zonyango ezichaphazelekayo , ukuba nomntwana one-Down syndrome kunzima kubazali. Iyaqhubeka ngaphandle kokutsho. Kodwa ngaba unokubona ukumomotheka? Ubona kaninzi kangakanani abantwana (kunye nabantu abadala) abane-Down syndrome bemomotheka? Uninzi lwakho luza kuthi "rhoqo." Ngoku cinga ngamanye abantwana kunye nabantu abadala beengqondo eziphezulu ezisebenza kakhulu. Ngaba ubona uncumo obuninzi?
Le ngxelo ngokuqinisekileyo ayifanelekanga ukunyaniseka naluphi na ukwesaba. Ezi ntswelo zinyani kwaye zibalulekile ukuphuma ngaphandle. Nangona kunjalo, njengabazali, sihlala sithi ithemba lethu elikhulu kukuba abantwana bethu baya kuba "nolonwabo" ubomi kunye nokuba unoyolo aluhlali kuxhomekeke ekubeni ne-IQ ephezulu, okanye ukhangele njengawo wonke umntu. Enyanisweni, abantwana abaninzi kunye nabantu abadala abane-Down syndrome kubonakala bekwazi ukukrokra ngamaxesha apho abo abangenayo i-syndrome babanjwe, njengokukhazimula ngezinto esingenako ukutshintsha kwixesha elidlulileyo okanye ukuxhalabela okanye ukwesaba ikusasa.
Ukongeza, nangona iimeko zonyango ezinxulumene ne-Down syndrome, malunga ne-80% yabantwana abazalwa nge-Down syndrome namhlanje kulindeleke ukuba bafikelele kwiminyaka engama-60.
Ukuba ucinga malunga nokuhlola, okanye ufunde ukuba unomntwana ophethe i-Down syndrome, thatha isikhashana ukuba ufunde le leta kumzali omtsha onentsana ene-Down syndrome.
Imithombo:
Isizwe seSizwe soPhuhliso lwaBantwana kunye noPhuhliso lwaBasebenzi Yintoni ebangela i-Down syndrome? Ukuhlaziywa 01/17/14.