Ingane phansi - kusho ukuthini? Izimpawu nezinkomba-Down syndrome

Igama elithi "phansi" emphakathini wanamuhla is more ukucindezelwa kwakuvame ukusetshenziswa njengezaba ukuthuka. Kule ndaba, omama abaningi nge umoya bated elinde imiphumela ultrasound, ngenxa yokwesaba izimpawu kokuphazamisa. Phela, lo mntwana phansi umndeni - kungcono nosizi olwaluvame kudinga ukucindezeleka ezingokomzimba nezingokwengqondo. Ngakho-ke yini i-Down Syndrome? Yiziphi izimpawu zesifo?

Uyini-Down syndrome?

Down Syndrome - lokhu kwakuphambene nemvelo zofuzo, uyisithulu chromosomal okungavamile. It kuhambisana ayenqaba ezinye izinkomba zezempilo kanye ukuphazamiseka ukuthuthukiswa evamile ngokomzimba. Kubalulekile ukuphawula ukuthi igama elithi "isifo" awusebenzi, kusukela sikhuluma iqoqo izici kanye nezici ezithile, okusho yalesi sifo.

Ukukhuluma zokuqala syndrome kusolakala ukuthi kwenzeka eminyakeni 1500 edlule. Lona yobudala isibaluli izinsalela ingane nge izimpawu of Down Syndrome, atholakala yamathuna lomuzi okukhulunywa kuzo isiFulentshi Chalon-sur-Saône. Lalikanye akuhlukile kokujwayelekile, okuyindawo eyodwa singaphetha ngokuthi abantu abakhubazekile ezifanayo kungukuthi ngaphansi kwengcindezi yomphakathi.

Ngokokuqala ngqá-Down syndrome achazwa 1866 udokotela waseBrithani uJohn Langdon Down. Khona-ke usosayensi ngokuthi lesi simo "mongolism." Ngemva kwesikhathi esithile, zokugula yethiwa owathola.

Ziyini izimbangela?

Mayelana izizathu lapho zikhona izingane ezine-Down syndrome, yabe seyaziwa kuphela ngo-1959. Khona-ke conditionality zofuzo kwalesi sifo kuye kwabonisani usosayensi French Gerard Lejeune.

Kwavela ukuthi imbangela yangempela yalesi sifo - ukuvela i pair extra lezakhi zofuzo. Kumiswa It is at the stage of kokukhulelwa. Ngokuvamile, umuntu enempilo kwengqamuzana ngalinye kunesikhungo 46 ngazimbili lezakhi zofuzo kumaseli lwegciwane (iqanda isidoda) kukhona ncamashi nengxenye - 23. Kodwa ngesikhathi ukuzalanisa iqanda nesidoda fuse, ikhithi yabo zofuzo zihlanganiswa, zakha kokuba ingqamuzana elisha - a zygote.

Maduzane, zygote iqala ukwehlukana. Kule nqubo, kuza isikhathi lapho inani lezakhi zofuzo engqamuzaneni ungesinye ukulungele sabelane kabili. Kodwa ngokushesha ziyahlakazeka zingene izingongolo okuphambene iseli ngalesosikhathi she ahlukaniswe isigamu. Lapha kulapho kwenzeka iphutha. Lapho lo msebenzi kodwa akukho 21th pair wama-chromosomes, kungaba "ubambe 'komunye nomunye. Zygote liyaqhubeka ngokuphindaphindiwe sabelane kwakhiwa umbungu. Ngakho kukhona izingane ezine-Down syndrome.

amafomu yalesi sifo

Kukhona amafomu ezintathu-Down syndrome, kuncike izici izindlela genetic nesenzakalo yabo:

• Trisomy. Lokhu Yisimo esivamile nesenzakalo yayo - 94%. Kwenzeka lapho kukhona ukuphazamiseka ngesikhathi kwehlukana 21 ngazimbili wama-chromosomes ngesikhathi division.
• Translocation. Lolu hlobo Down syndrome bungavami,% 5 kuphela amacala. Ngakho kukhona ukudluliselwa ingxenye chromosome lonke isakhi sofuzo noma kwenye indawo. nesidoda okunikelwe kungaba "gxuma 'komunye chromosome komunye noma ngaphakathi chromosome efanayo. Ukubukeka yilesi sifo kudlala juqu indima zofuzo impahla uyise.
• Mosaicism. Ifomu kakhulu akuvamile okwenzeka yalesi sifo, itholakala kuphela 1-2% of amacala. Nge ukuhlukumeza okunjalo iseli umzimba iqukethe iqoqo evamile wama-chromosomes - 46, kanti enye ingxenye yaba - anda, okungukuthi, 47. Izingane nge KaMose syndrome Down kungaba ezahlukene kancane kontanga, kodwa kancane ngemuva sokukhula kwengqondo. Ngokuvamile, kokutshelwa ngokukhubazeka kwengane kunzima ukuqinisekisa.

Ukubonakaliswa sifo

Lokho ingane ine-Down Syndrome baziwa kalula ngokushesha emva kokuzalwa. Kuyadingeka ukuba banake izici ezilandelayo:

• ikhanda owayemude encane, ngemuva flat ikhanda;
• flat ubuso, isicaba ibhuloho ekhaleni;
• kwesilevu encane, umlomo, izindlebe;
• iso nge isici emhlambini futhi i umqhewu etshekile;
• ngokuvamile wavula umlomo wakhe;
• nemilenze esifushane, iminwe, intamo;
• obuthaka imisipha ithoni;
• zesundu ezibanzi nge isikhumba transverse (monkey) phinda.

Ngokuvamile, izingane ezine-Down syndrome abaqashelwa lezizibonakaliso. Abakwazi ukunquma hhayi kuphela onguchwepheshe, kodwa futhi abantu abavamile. Khona-ke, uphethwe kuqinisekiswa lihlolwa ngokucophelela futhi eziningi cwaningo.

syndrome kanjani yingozi?

Uma umndeni owazalwa ezansi, kudingeka aphathe ngayo ukunakekelwa ngenxa. Ngokuvamile lezi zingane, ngaphezu izimpawu zangaphandle, ukuthuthukisa isifo esiyingozi:

• amasosha omzimba kahle;
• yesifo senhliziyo azalwa naso ;
• ukuthuthukiswa okungavamile esifubeni.

Ngenxa yalezi zizathu, ingane phansi kaningi wadalula ebuntwaneni izifo, baphathwa izifo yamaphaphu. Ngaphezu kwalokho, ekukhuleni kwayo lihlotshaniswa nge ukuthuthukiswa engqondweni nasemzimbeni. kumiswa Slow wokugaya ukudla kuhambisana nokuncipha umsebenzi enzyme, nobunzima ukugaya. Ngokuvamile umntwana phansi abadinga ukuhlinzwa kwenhliziyo kuyinkimbinkimbi. Ngaphezu kwalokho, kungaba ukuthuthukisa ukungasebenzi kwekhono nezinye izitho.

Ngezinye izikhathi, yokugwema imiphumela engasi mihle ezathathwa ngesikhathi ukusiza. Ngakho-ke, kubaluleke kakhulu ukuba ahlolisise at esiteji ukuthuthukiswa pre-natal yengane.

amaqembu ingozi

Ngokwesilinganiso, tigameko Down Syndrome - 1: 600 (1 ingane e 600). Nokho, lezi zibalo iyashiyana izinto eziningi. Izingane nezimbi zivame ezizalwa omama engaphezu kwengu-35. Omdala owesifazane, aba maningi amathuba okuba ingane abanokukhubazeka. Ngakho-ke, omama zeminyaka 35 kubaluleke kakhulu ukuthatha zonke nokuhlolwa odokotela kudingekile emazingeni ahlukahlukeneko wendlela ukukhulelwa.

Nokho, ukuzalwa kwezingane ezine-Down syndrome kwenzeka nakomama kuze kube iminyaka engu-25. Kwatholakala ukuthi izizathu lokhu kungase kube yobudala kababa, khona imishado ezihlobene eduze futhi, Isimanga siwukuthi, engu-ugogo.

ukuhlola

Namuhla ukuxilonga-Down syndrome bangase babe at the stage of sokukhulelwa. Okubizwa ngokuthi "yokuhlola-Down syndrome:" kuhlanganisa lahlukene izifundo. Zonke izindlela ukuxilongwa ngaphambi kokuzalwa libizwa kokubeletha kanye kunemibandela ngamaqembu amabili:

• koda - ukuhlinzwa ezihilela ayehlasela isikhala amniotic;
• non-koda - akukho Ukungena emzimbeni.

Iqembu lokuqala izindlela zihlanganisa:

• Amniocentesis. Special inaliti kocingo ukukhiqiza amniotic fluid. Amaseli eziqukethwe lolu ketshezi yabekwa cwaningo zofuzo khona chromosomal kwezinso. Kwakucatshangwa ukuthi indlela kungaba yingozi ngoba ikusasa lalowo ezingenzeka embungwini, ngakho-ke akuveli linqume konke.
• Fence esincane izicubu (biopsy), i-fetus igobolondo ingxenye (chorion). Kukholakala ukuthi into okuholela inika yi eziqinile ne izifundo zofuzo.
  

Iqembu izindlela yesibili zibandakanya ngaphezulu evikelekile, isibonelo, ultrasound futhi izifundo kwamakhemikhali. Down syndrome ukutholwa ultrasound kusukela ngesonto 12 okukhulelwa. Ngokuvamile, isifundo esinjalo is kuhlangene ukuhlolwa igazi. Uma kukhona ingozi ukuthi umfazi lo waba nomntwana phansi, idinga zidlule lonke iqoqo survey.

Ngingaba ngikuvimbele?

Vimbela ukubukeka ingane ene-Down syndrome kungaba kuphela ekuqaleni nje ebamba isisu nge unina zofuzo noyise inhlolovo. ukuhlolwa Special sizobonisa degree of ingozi yezifo chromosomal ku-fetus esizayo. Lokhu ucabangela izici eziningi - yobudala unina, noyise, ugogo, khona izihlobo igazi imishado, ukubeletha Down Syndrome emkhayeni.

Thola izinkinga ekukhulelweni kokuqala, lona wesifazane sikhululekile ukuzinqumela ngekusasa umbungu. Ukukhulisa ingane ene-Down Syndrome - inqubo eyinkimbinkimbi kakhulu futhi isikhathi esiningi. Kukho konke ukuphila kwami kulesi ingane bazodinga ukunakekelwa eliphezulu. Kodwa akufanele sikhohlwe ukuthi ngisho nezingane ezikhubazekile enjalo kungaba ngokugcwele esikoleni futhi ziphumelele ekuphileni.

Ingabe ikhona ukwelashwa?

Kucatshangwa ukuthi i-Down Syndrome akwelapheki, njengoba kuba isifo esidluliselwa ngofuzo. Nokho, zikhona izindlela kuzenza ngcono izimpawu zakhe.

Izingane ezine-Down syndrome kudingeka ukuba anake. Kanye ephezulu ukwelashwa okusezingeni eliphakeme, zidinga ukuqeqeshwa efanele. Ziyakwazi isikhathi eside angeke ufunde indlela azinakekela ngayo wona, ngakho udinga ukuba bagxilise lamakhono. Ngaphezu kwalokho, badinga amaseshini njalo nodokotela osiza abanezinkinga zokukhuluma kanye physiotherapist. Kukhona eziklanyelwe Uhlelo lokuhlumelelisa La bantwana bona, ukuzisiza zihlakulele futhi ngizama ukuzijwayeza indlela umphakathi.

Lesi senzakalo lwesayensi yanamuhla njengoba stem ukwelashwa cell liyakwazi le lag ekuthuthukiseni ngokomzimba ingane. Ukwelashwa Ungakwazi kujwayeleke bone ukukhula, ukuthuthukiswa kobuchopho, ukusungula umsoco izitho zangaphakathi, ukuthuthukisa nokuvikeleka. Ukwethulwa kwe-stem cell emzimbeni wengane baqale ngokushesha emva kokuzalwa.

Kukhona ulwazi mayelana ukuphumelela ukwelashwa eside kwezidakamizwa ezithile. Babe ngcono umzimba futhi nethonya elihle ku-ukuthuthukiswa ingane ene-Down syndrome.

Down and Society

Izingane ezine-Down syndrome, kunzima kakhulu ukuzivumelanisa umphakathi. Kodwa ngesikhathi esifanayo kuba zokuxhumana ibalulekile. Izingane nezimbi banobungane kakhulu, kulula ukuya ku Oxhumene naye, omuhle, naphezu kwesimo senhliziyo kwemizwelo. Ngenxa yalezi zimfanelo ngokuvamile zibizwa ngokuthi "umntwana welanga."

ERussia, isimo sengqondo maqondana nezingane kanye chromosomal angahlangani, akukho abathakazelelwayo ezahlukene. Ingane lags ngemuva ekuthuthukisweni, bangaba kuncike ukuhlekwa ontanga yabo, okuyinto kuba nomthelela ongemuhle ekukhuleni kwakhe kwengqondo.

Abantu abane-Down syndrome kuyodingeka nobunzima ukuphila kwabo konke. Abazi nje ukuya enkulisa, esikoleni. Sinenkosi inkinga yokungatholi umsebenzi. Akulula ukuqala umndeni, kodwa ngisho uma ehluleka, kukhona izinkinga kanye namandla okuba izingane. Abesilisa nezimbi engenazithelo, futhi abesifazane engozini lokuzalwa yenzalo ogulayo.

Nokho, abantu abane-Down syndrome Ungaphila impilo egcwele. Bayakwazi ukufunda, naphezu kweqiniso lokuthi kule nqubo zingabantu kancane kakhulu. Phakathi kwabo kukhona abadlali abaningi abanamakhono, okuyiwona Theatre of Simple yasungulwa ngo-1999 eMoscow.