Zempilo, Diseases and nemibandela
Child phantsi - kuthetha ntoni? Imiqondiso neempawu ze Down syndrome
Igama elithi "phantsi" kwibutho lanamhlanje isoloko ngakumbi isetyenziswa ukuba anyeliswe. Kulo mba, oomama abaninzi ngomoya bated elinde ukuba iziphumo ultrasound, ngenxa yokoyika mpawu ephazamisayo. Ngapha koko, lo mntwana apha ekhaya - kuba nobunzima kufuna uxinezeleko ngokwasemzimbeni nangokwasengqondweni. Ngoko ke yintoni Down syndrome? Ziziphi iimpawu kunye neempawu?
Yintoni Down syndrome?
Down kaThixo syndrome - le ezingaqhelekanga, yemfuza, iziphene chromosomal angahlangani. Oko kukhatshwa alahle ezinye zezempilo kunye ukuphazamiseka uphuhliso oluqhelekileyo ngokomzimba. Kubalulekile ukuqaphela ukuba igama elithi "sifo" ayikho Akusebenzi, kuba sithetha iseti iimpawu kunye neempawu ezithile, ie le onaso.
Ukukhankanywa yokuqala onaso kuthiwa kwenzeka kwiminyaka 1500 eyadlulayo. Bubo ke obu kuthiwa kumabhodlo umntwana iimpawu Down engqondweni, efumaneka necropolis esixeko French ka Chalon-sur-Saône. Yokungcwaba kwakungekho ezahlukeneyo ukusuka njengesiqhelo, apho umntu ukucinga ukuba abantu abakhubazeke ezifanayo akulindelekanga phantsi uxinzelelo loluntu.
Ngokuba lixesha lokuqala Down syndrome kuchazwa 1866 yi igqirha British John Langdon Ezantsi kaThixo. Ke inzululwazi le meko "mongolism." Emva kwexesha elithile, loo ngezifo yathiywa emva discoverer.
Yintoni?
Malunga izizathu apho kukho abantwana Down syndrome, oko kwazeka kuphela ngo-1959. Ke kwiimeko genetic kwesi sifo sele wazibonakalisa sisazinzulu French Gerard Lejeune.
Kwathi kanti loo ndawo isizathu sokuba le syndrome - ukuvela kukho isibini engaphezulu zofuzo. Oku kwenziwa kwinqanaba ifakwe. Ngokuqhelekileyo, umntu esempilweni kwiseli nganye 46 izibini zofuzo iiseli intsholongwane (iqanda kunye amadlozi kunye) kukho ngqo isiqingatha - 23 Kodwa ngexesha ukuchumisa iqanda amadlozi fuse, ikhithi yazo yemfuza ziyadibana zenze iseli entsha - a elilodwa.
Kungekudala, lo elilodwa uqalisa bababele. Ngethuba lale nkqubo, kuza ixesha xa inani zofuzo iseli ukulungele ukwabelana luphindiwe. Kodwa nangoko ndikuchithachithe kwiipali malunga esiseleni, ngoko yahlulwe kubini. Oku kulapho lwenzeka isiphoso. Xa isibini amathuba 21th zofuzo, xi nga "ubambe 'omnye komnye. Elilodwa liyaqhubeka ngokuphindaphindiweyo Sinasabelo kwakheka mbungu. Ngoko kukho abantwana Down syndrome.
iintlobo syndrome
Kukho iintlobo ezintathu Down syndrome, kuxhomekeke iimpawu iindlela genetic kwazo;
- Trisomy. Le meko ezaziwa livela - 94%. Oku kwenzeka xa kukho ukuphazamiseka kwenye divergence 21 izibini zofuzo ngexesha hlula.
- Ukufuduselwa. Olu hlobo Down syndrome ingaphantsi eqhelekileyo,% 5 kuphela amatyala. Ngenxa yoko kukho ukugqithiselwa yinxalenye chromosome sakhi yonke okanye kwenye indawo. zofuzo nga 'tsiba' ukusuka chromosome enye ukuya kwenye okanye phakathi chromosome efanayo. Imbonakalo esi sifo lidlala indima impahla ubawo genetic obungahexiyo.
- Mosaicism. Eyona ndlela abangafane kuvele onaso, ifumaneka kuphela ngo-1-2% yamatyala. Ekubeni ukugxojwa enjalo yeseli umzimba iqulethe isethi eqhelekileyo zofuzo - 46, kwaye enye inxalenye - anda, ie, 47. Abantwana zayimosaic Down syndrome inokuba i eyahlukileyo kancinane oontanga babo, kodwa kancinci emva kuphuhliso engqondweni. Ngokuqhelekileyo, isifo kunzima ukuqinisekisa.
Ukubonakalalisa syndrome
Ukuba umntwana Down engqondweni abonakala kalula ngoko nangoko emva kokuzalwa. Kuyimfuneko ukuba banikele ingqalelo ezi mpawu zilandelayo:
- intloko ubungakanani encinane, emva caba entloko;
- ubuso tyaba, atshabalalisa ibhulorho empumlo;
- isilevu encinane, emlonyeni, iindlebe;
- iliso ngomphetho iimpawu kunye noqhoqhoqho elibhalwe ngokumileyo;
- ngokufuthi wavula umlomo wakhe;
- ezimfutshane omzimba, iminwe, emqaleni;
- kwezihlunu elibuthathaka;
- yesundu ezibanzi ne ibala ezinqamlezayo (nyani) emhlambini.
Kakhulu, abantwana kunye Down syndrome zibonakaliswa yi le miqondiso. Bayakwazi ukubona kuphela yingcali, kodwa abantu abaqhelekileyo. Emva koko, uxilongo ingqinwa ukuhlolwa eneenkcukacha kunye nenani wohlalutyo.
syndrome njani yingozi?
Ukuba usapho wazalelwa phantsi, kufuneka ukuluphatha ngenkathalo. Ngokuqhelekileyo aba bantwana, ukongeza iimpawu zangaphandle, nesifo esibi;
- okukwazi othile;
- yesifo senhliziyo ;
- uphuhliso okungaqhelekanga kwesifuba.
Ngenxa yezi zizathu, umntwana phantsi kaninzi kalula kusulelo ebuntwaneni, abaphethwe zizifo miphungeni. Ukongeza, ukukhula kwayo liphathelene kunye nophuhliso engqondweni nasemzimbeni. kumiswa Slow kwenkqubo okucola kubandakanya ukuncitshiswa kumsebenzi transcriptase, kunye nobunzima ukudla. Amaxesha amaninzi umntwana phantsi abadinga a uqhaqho lwentliziyo enzima. Ukongezelela, oko ukuphuhlisa kwekhono zeminye imibutho.
Ngamanye amaxesha, ukuba intlungu ezingentle manyathathelo athatyathiweyo ngexesha ukunceda. Ngoko ke, kubalulekile ukuba balobe kwinqanaba lophuhliso pre-natal umntwana.
amaqela ingozi
Kwi-avareji, komntwana esesesizalweni ngenxa Down esithi - 1: 600 (1 umntwana 600). Nangona kunjalo, la manani azifani, kuxhomekeke kwizinto ezininzi. naphezulu Abantwana basoloko wazalwa kubafazi kwama-35 eminyaka. Okona mfazi, kokukhona ingozi yokuba umntwana abakhubazekileyo. Ngoko ke, oomama engama-35 Kubaluleke gqitha ukuba zonke iimviwo zonyango eziyimfuneko kumanqanaba ahlukeneyo yokukhulelwa.
Noko ke, ukuzalwa abantwana Down syndrome kwenzeka koomama ukuya kwiminyaka engama-25. Kuye kwafunyaniswa ukuba izizathu oku kube ubudala kayise, ubukho kwemitshato anxulumene ngokusondeleyo kunye, Isimanga ngokwaneleyo, ubudala ugogo.
ekuxilongweni
Namhlanje nokuxilonga Down syndrome ibe kwinqanaba yokukhulelwa. Babizwa ngokuba "yovavanyo Down syndrome" kuquka lonke uluhlu izifundo. Zonke iindlela kokuxilongwa phambi kokuzalwa kuthiwa siswini kwaye imiqathango yahlulwe ngamaqela amabini:
- invasive - kwegazi ebandakanya ayehlasela isithuba amniotic;
- non-invasive - akukho lalwano emzimbeni.
Iqela lokuqala ndlela ziquka:
- Amniocentesis. ucingo inaliti Special ukuvelisa fluid. Iiseli eziqulathwe kule ulwelo yathotyelwa kwimeko yokufunda yemfuza ubukho ukungaqheleki chromosomal. Enyanisweni, indlela kunokuba yingozi kuba nekamva ndingekazalwa, ngoko alikwazi ukugunyazisa yonke into.
- Kucingo olubiyele imali encinci kwithishyu (biopsy), icandelo iqokobhe ezingekazalwa (chorion). Kukholelwa ukuba umbandela ngenxa unika isiphumo oluthembekileyo ngakumbi kwizifundo yemfuza.
Iqela lesibini ndlela ziquka ngakumbi ekhuselekileyo, umzekelo, ultrasound kunye nezifundo nemvelo. Down syndrome ibanjiwe ultrasound ukusuka kwiveki ye-12 yokukhulelwa. Ngokuqhelekileyo, isifundo eso kudityaniswe iimvavanyo zegazi. Ukuba kukho i-risk yokuba umfazi phantsi nomntwana, kufuneka zidlule isethi yonke ngophengululo.
Ngaba ndiya nqanda nto?
Ukuthintela ukubonakala umntwana Down syndrome kunokuba kuphela ukuya ekuqaleni ekukhawulweni ngomama yemfuza kunye noyise phando. Iimvavanyo eyodwa iza kubonisa iqondo umngcipheko izifo chromosomal kwi olungekazalwa elizayo. Oku kuthatha ingqalelo izinto ezininzi - ubudala umama, utata, umakhulu, ubukho izalamane igazi imitshato, syndrome nokuzalwa Ezantsi entsatsheni.
Chonga iingxaki ukukhulelwa kwangethuba, umfazi ukhululekile ukuba isigqibo malunga bayahlelwa olungekazalwa. Ukukhulisa umntwana kunye syndrome Down kaThixo - yinkqubo entsonkothileyo kakhulu ixesha elide nelityayo ixesha. ubomi bam bonke lo mntwana kuya kufuneka care yodidi oluphezulu. Kodwa asimele silibale ukuba nkqu nabantwana abakhubazeke ezinjalo ngokupheleleyo esikolweni aze aphumelele ebomini.
Ingaba ikhona indawo unyango?
Kucingwa ukuba Down syndrome asinyangeki, njengoko sisifo yemfuza. Noko ke, kukho iindlela ukuthomalalisa iimpawu zakhe.
Abantwana abane Down syndrome kufuneka ube ingqalelo. Kunye unyango high-high, bafuna uqeqesho olufanelekileyo. Ziphila ixesha elide akakwazi kufunda indlela ukuthatha unonophelo ngokwabo, ngoko ke kufuneka ukuba ukubethelela ezi zakhono. Ukongeza, kufuneka iiseshoni rhoqo leengxaki zokuthetha umzimba. Kukho ngokukodwa inkqubo kwisimo ukuba aba bantwana, libanceda ukuba ukuphuhlisa nokulungelelanisa kuluntu.
Le lophuhliso lwenzululwazi mihla njengoko unyango cell stem kunokusivala ukuba ukuqhwalela ukukhula komntwana. Therapy nga bunjani ukukhula ithambo, uphuhliso ingqondo, ukuseka ukutya enyama yangaphakathi, ukuphucula nezifo. Ukuqaliswa iiseli isiqu umzimba umntwana kuqala ngoko nangoko emva kokuzalwa.
Kukho ulwazi malunga ukusebenza konyango ixesha elide iziyobisi ezithile. Ziphucula ukutya kunye nempembelelo entle ekuphuhliseni umntwana Down syndrome.
Down ne Society
Abantwana abane Down syndrome kunzima kakhulu ukumelana eluntwini. Kodwa kwangaxeshanye na unxibelelwano kunyanzelekile. Abantwana mabenze banobubele kakhulu, kulula ukuya kwi kumfowunelwa, eyakhayo, nangona kukutshintshatshintsha. Kuba ezi mpawu kudla ngokuthiwa "umntwana elanga."
ERashiya, isimo sengqondo ngokubhekisele abantwana chromosomal ukungaqheleki, akukho omhle ezahlukeneyo. Umntwana libe lisalele ngasemva kuphuhliso, unako ukuba isifundo ukuhlekwa phakathi kweentanga zabo, nto leyo iba nefuthe elibi ekukhuleni kwakhe engqondweni.
Abantu Down syndrome baya ubunzima kubo bonke ubomi babo. Bona musa nje ukuba abancinane, esikolweni. Bakufumanisa kunzima ukufumana umsebenzi. Akukho lula ukuqala usapho, kodwa ukuba uyasilela, kukho iingxaki kunye ukukwazi ukuba abe nabantwana. naphezulu Madoda ephuthileyo, kwaye abafazi basengozini yokuzalwa wembewu egulayo.
Noko ke, abantu abane Down syndrome kunokukhokelela ubomi ngokupheleleyo. Bona bayakwazi ukufunda, nangona ukuba le nkqubo ukuba ngokucotha kakhulu. Phakathi aba bantu kukho abadlali abaninzi abanetalente, leyo Theatre of Simple yasekwa ngo-1999 eMoscow.
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