Trisomy 21: amaxabiso eziqhelekileyo

Trisomy - ubukho chromosome extra eziliqela okanye omnye iseti chromosome. Eyona ndlela kakhulu ithandwa - kodwa kukho i chromosome engaphezulu kwi-13, 18 kunye chromosome 21.

Down engqondweni

Igama yesibini kwesi sifo - trisomy 21. wakhe wokuqala luphononongwa practice yakhe waza wachaza uGqr Lengdon Daun ngo-1866. Ugqirha ilungelo Ndizicacisile iimpawu eziphambili ingxaki, kodwa yena akazange akwazi ukuchonga ngokuchanekileyo unobangela sifo. Sombulula imfihlelo trisomy 21, abaphengululi bakwazi kuphela ngo-1959. Emva koko kwafunyaniswa ukuba izifo unalo imvelaphi yemfuza. Iikopi chromosome 21 gene banoxanduva iimpawu syndrome, ezizezi, ekho umgadi chromosome extra kukhokelela ngezifo ezinjalo. Yinto eyaziwayo ukuba yeseli ngalinye yabantu iqulethe izibini engamashumi amabini anesithathu zofuzo. Isiqingatha sokuqala uhamba iqanda ukusuka kunina, kwaye eyesibini - ngokusebenzisa isidoda uyise. Kodwa ngamanye amaxesha ayiwenzi, kwaye chromosome akakwazi ukwahlula phezulu, ngoko ukususela omnye wabazali ungafumana onke unit engaphezulu. Kufuneka kuqatshelwe ukuba amakhwenkwe kunye namantombazana ubunzima Down syndrome ngokufanayo. I indawo okuyo ye abazali nabo Akukhathaliseki. Ngokutsho manani, omnye unesifo trisomy 21 abantwana abasibhozo.

Oonobangela kunye nengozi trisomy 21. Izinga kwezalathisi risk

Oonobangela Down engqondweni akukaqondwa kakuhle. Izazinzulu nangoku bexambulisana malunga nesi sifo. Into kuphela ukuba uyavuma, kukuba trisomy 21 kusisiphumo yokusilela leendibano amaninzi phakathi zofuzo ngamnye. Kwaye akukho sifo njengelifa. Kodwa kukho indlela ethile: Ukuba ubudala sikanina ngaphaya kwama-35, ukuvela esi sifo yanda nge pesenti ezintathu. Yaye abadala njengomfazi ozalayo, kungona ingozi yokuba usana trisomy 21. Ngoko ke, ingozi yokuba umntwana kwabasetyhini kwiminyaka engamashumi amabini anesihlanu ubudala yi-1 umntwana 1250 abantwana, yaye emva amane - kuzalwa umntwana 1 ukuya ku-30. Kufuneka kuqatshelwe ukuba ubudala katata alunasiphumo kwi kokuvela esi sifo. Woman Down syndrome abe umntwana kunye namathuba amahlanu ekhulwini abantu kunye nezifo - azifumani. Abazali umntwana lesi sifo, umngcipheko trisomy-21, umntwana wesibini ekhulwini elinye.

Iindlela ukuba bazimisele ezingaqhelekanga chromosomal

Wonke umfazi uceba ukukhulelwa, ngoku ixhalabele ngempilo elizayo usana lwakho. amayeza Modern kusenza sikwazi ukubona uphuhliso ezininzi zophendlo lwezifo komntwana esibelekweni. Njengoko kukhankanyiwe ngasentla, ingozi okulindelekileyo trisomy 21 ngokuphindaphindiweyo kwanda lomama. Ngenxa yokuba abo Abafazi bonke ubudala usemngciphekweni, athi ukuvavanyela kwithuba leenyanga ezintathu yokuqala yokukhulelwa. Kodwa hayi kuphela ubudala ube isizathu apho ugqirha kukho inkxalabo ukuba olungekazalwa ukuze aphuhlise trisomy 21. Izinga apho analysis eyabelwe:

• leengxaki azalwa zokukhulelwa ezidlulileyo, ezifana ezingaqhelekanga chromosomal;
• phambi nevynoshennyh nokukhulelwa;
• ubukho izihlobo izifo abakhulelweyo naso esibi;
• Izifo ezosulelayo ukukhulelwa ekuqaleni;
• exposure radiation;
• yokuqala yokuzalwa nale syndrome;
• ukwamkelwa kwi zigaba zokuqala iziyobisi kunye naMahlathi.

Localulo isampulu yegazi olwenziwa; kwandule ke isampuli yabekwa kwindawo izixhobo ezikhethekileyo, esebenzisa apho ibhaqa phambi ngezifo. Ngu ubungqina njengoko kumiselwe yi-trisomy-21, amaxabiso eqhelekileyo zithathelwa ingqalelo kunye neminye imiba njongo. Ezi ziquka: lomama, ubunzima, ubukho iziqhamo, ubukho okanye ukungabikho imikhwa emibi kunye nabanye. Yaba kuphela emva kokuba wenziwe uviwo olupheleleyo, iingozi ibalwe, kwaye isalathisi "trisomy 21" kuqinisekiswa - umfazi umenywa kokubonisana ugqirha, apho waye waxelelwa malunga ubukho ekucingelwa Down engqondweni kwi usana olungekazalwa. Ibhinqa isigqibo ukuphazamisa ukukhulelwa. Kodwa baxilonga iziphumo kuphela abanakho ukukunika elinamanci ekhulwini uxilongo. Ukuba analysis unika iziphumo ezidibanisayo, ugqirha ngokuqhelekileyo lityumbe CVS okuhlatywa.

Iimpawu kunye Iimpawu Down Syndrome

Njengomgaqo, trisomy 21 ifumaneka kwimizuzu yokuqala embalwa yobomi yosana. Kukho eziliqela iimpawu zangaphandle apho ugqirha uyakwazi ukubeka isifo. Ezi ziquka:

• intamo emfutshane, impumlo atshabalalisa kunye nobuso, umlomo encinane, ezinkulu, ngokuqhelekileyo elibukhali ulwimi, Mongoloid yamehlo, i iindlebe encinane likhubazeke;
• isibhakabhaka ephosakeleyo, ulwimi kunye vee, ibhulorho omthebelele empumlo;
• iingalo emifutshane ububanzi, izandla kunye mhlambi mnye, yokuhlasela emfutshane ngomnwe eliphakathi;
• amatshatshazi amhlophe phezu iris iso;
• akathetheleleki;
• kwezihlunu buthathaka kakhulu;
• ugobile esifubeni.

Le ngezifo amalungu zangaphakathi

Sinokuthi abantu abaye unesifo "trisomy 21", izinga co-morbidities ezinjalo:

• yesifo senhliziyo;
• ezahlukahlukeneyo izifo zesisu phecana;
• ingozi yokuba nomhlaza iphezulu kakhulu kubantu abasempilweni;
• ukungeva;
• ukungaboni ;
• belele;
• ukutyeba;
• nokuqunjelwa;
• aqaqambayo bobusana;
• isifo i-Alzheimer.

Trisomy 21. Izalathi eqhelekileyo ukwenza izinto yezengqondo-iimvakalelo

Mhlawumbi sigulo iqhelekileyo abantwana, wabeka uphethwe enjalo kukwaphula ingqondo-iimvakalelo. Abantu abane trisomy 21 ngezifo kunzima ukufunda, bengengabo kufike abantu ekhaya, ngenkankulu usilwe usoyise. Amaxesha amaninzi aba bantwana mhlawumbi ukuqina okanye iyingozi ngokupheleleyo. Aba bantu kungenzeka kakhulu ukuba ndidandathekile. Kodwa ke, kufanele kuphawulwe ukuba aba bantwana uthando kakhulu, abathobelayo kwaye uphulaphule. Loo maKristu abizwa ngokuba 'umntwana elanga. "

Down kaThixo Syndrome Treatment

Ngelishwa, le leengxaki ngexesha namhlanje alinyangeki. Into kuphela ukuba ukunceda abantu abanjalo - ukuba ukunyanga intsebenziswano morbidities. Ngoko ke kunokwenzeka ukuba sandise ubomi 'ilanga abantu "kunye nokuphucula umgangatho wobomi.

Wezulu Down syndrome

Kwiminyaka yakutshanje, iminyaka yobomi babantu nokuphazamiseka kwi chromosome 21 linyuke kakhulu. Zonke Bulelani kuphuculo lomgangatho iimvavanyo kwaye unyango. Umntu nale syndrome angaphila umgangatho ukuya kwiminyaka engamashumi amahlanu anesihlanu okanye ngaphezulu. Ngenxa ukuhlanganiswa eluntwini abantu Down syndrome Usenokuphila ubomi obupheleleyo, abantwana - ukuya ezikolweni rhoqo. Namhlanje siyazi ukuba abaninzi abantu bakwazi ukwenza igalelo elikhulu nakubomi babo baba nodumo.

Tips esebenzayo for Parents abantwana "elanga"

Abazali ingxelo yokuba usana lwabo luyagula Down syndrome, kukho imiba emininzi enxulumene inkathalo ngakumbi kwaye bekhulisa umntwana. Kude kube kutshanje kuluntu lwethu thina abacalulwa abantu abanjalo. Esi simo sengqondo iye yaphuhliswa ngenxa yokungabikho kwengcaciso. Kodwa kamva, ulwazi ngakumbi nangakumbi ufumana ibutho labantu ahluke kancinane kuthi. Ngoku yenza inani elikhulu amaziko, nto leyo kuza nabazali babo "nomntwana elanga." Abazange nje ukuba impumelelo yabo kunye namava, kodwa ukuze bafundise abantwana ukuqhelana kobunzima basekhaya nokuzibuyisela eluntwini yanamhlanje. Kubalulekile ukuba ukujongana kuphela uphuhliso engqondweni womntwana, kodwa emzimbeni. Iziphumo ezincumisayo ukunika umzimba kunye nonyango lwezigulo zasemsebenzini. Kuyimfuneko ukuba ukufundisa umntwana ukuba bakhonze ngokwabo. Kubalulekile ukuba abandakanyeke emntwaneni "enelanga" kwasebusaneni. Kukho izixhobo ezininzi kakhulu kuphuhliso aba bantwana. Kwaye ukuba abantu abasondeleyo ukunceda umntwana wakho ukumelana inkalo ekhethekileyo, kusenokwenzeka ukuba umntwana cishe aziyi kwahluka oontanga babo. Yena akanako nje ukuya kwisikolo rhoqo, kodwa ukufunda wobugcisa, yaye ngaloo ndlela abe lilungu epheleleyo yoluntu.