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I-Down's Syndrome: izibonakaliso ezinganeni ezisanda kuzalwa, ukuxilongwa nezifo

Kuze kube manje, i-Down's syndrome iyinto engavamile kakhulu yesifo sofuzo. Isisekelo salesi sifo senziwa ngisho nangesikhathi sokubunjwa kwe-ovum noma isidoda. Ingane enale nkinga inesethi ye-chromosome ehlukile. Akuvamile. Uma ingane evamile inama-chromosomes angu-46, khona-ke ingane-phansi-47.

Isici Sengozi

Izimbangela zokubonakala kwesifo asikaze zihlolwe ngokugcwele. Kodwa-ke, odokotela abavela emhlabeni wonke bafika esinqumweni esisodwa. Biphikisana ngokuthi: omdala owesifazane obelethayo, ukwandisa ingozi yokuzalwa kwengane enalesi sifo. Kulesi simo, ubulili bomntwana, iminyaka kababa kanye nemvelo yokuhlala akukhathaleki.

Iminyaka eyingozi kunazo zonke owesifazane emva kweminyaka engamashumi amathathu nanhlanu. Amathuba okuzalwa kwengane eneqoqo elingalungile yama-chromosomes landa izikhathi eziningana. Lokhu kuyiqiniso ikakhulukazi emindenini esenayo "ilanga elincane" elinjalo. Izimpawu ze-Down's syndrome emntwaneni osanda kuzalwa zivela esibelethweni. Ngeviki leshumi nambili lokukhulelwa, i-ultrasound ingabonisa i-pathology. Kodwa lokhu akusona isiqinisekiso sokuthi ingane izozalwa ingenampilo. Umphumela wangempela ungafundwa kuphela emva kokubeletha. Kodwa lokhu akwanele. Ukuqinisekisa ukuxilongwa noma ukuyikhipha, udinga ukuqhuba izivivinyo ezikhethekile. Izimpawu zangaphandle ze-Down's syndrome ezisanda kuzalwa akuzona zonke iziqinisekiso zokuphambuka.

I-Down syndrome: izimpawu ezinganeni ezisanda kuzalwa

Igama elithi "syndrome" ekwelashweni lisho inhlanganisela yezimpawu ezizibonakalisa ngokwabo esimweni esithile somuntu. Ngo-1866, ososayensi nodokotela uJohn Down baqoqa izimpawu ezinzima eziqenjini elithile labantu abanalo lesi sifo. Ukuhlonipha lo muntu, futhi wabiza ngokuthi i-syndrome.

Ngokuvamile, izimpawu ze-Down's syndrome ezisanda kuzalwa zibonakala ngokushesha ngemva kokuzalwa. Izingane ezinjalo, ngeshwa, zizalwa kaningi. Kuzo zonke izinsana ezingamakhulu ayisikhombisa, kukhona ingane eyodwa ene-Down syndrome. Ngesikhathi esifanayo, izingane eziningi zibona izimpawu ezifanayo:

  • Ubuso buhlelwe phansi futhi bube lukhulu. Ukuma okufanayo kunemuva kwekhanda.
  • Isikhumba sesikhumba sibonakala entanyeni.
  • Kunethoni ye-muscle eyancishisiwe.
  • Ingane ine-flit in the oblique, futhi izingonyama zabo ziphakanyiswa. Ufometha "isibaya sama-Mongolian", noma okuthiwa ijwabu leso lesithathu.
  • Izitho zomntwana zifushane, uma kuqhathaniswa nezinye izingane.
  • Unamalungu aguquguqukayo kakhulu.
  • Iminwe ingamamitha afanayo, ngakho-ke isundu sinjengokubanzi nesicaba.
  • Ingane inokukhula okuncane. Ngokuvamile kaningi ngokukhula, ukugqithisa ngokweqile kuvela.

Izici ezinjalo zibhekwa yi-Down syndrome. Cishe zonke izimpawu zihlotshaniswa nokukhishwa kwe-skull nobuciko bokubukeka, kanye nokuphazamiseka kwamathambo nezicubu zomzimba. Nokho, kunezinye izimpawu. Abahlangane kaningi.

Izimpawu ezingavamile

I-Down syndrome (izimpawu ezisanda kuzalwa zivame ukuboniswa zisencane) zingatholakala, zibheke kwezinye izinkomba. Phakathi kwabo:

  1. Umlomo omncane uphinde uthule umlenze omncane.
  2. Iphutha elincane lokukhuluma ulimi: lihlala liphuma emlonyeni. Ngokuhamba kwesikhathi, kungakha imibimbi.
  3. I-chincane encane, kanye nekhala elifushane nebhuloho elibanzi lekhaleni.
  4. Umfutho omfushane.
  5. Ezintendeni zezandla zingase zakhiwe amaphuphu angemuva.
  6. Inyawo elikhulu lide kakhulu nakwezinye. Futhi ezinyaweni ezansi ngaphansi kwalo kukhona ipulazi.

Lezi zibonakaliso ze-Down's syndrome esanda kuzalwa ngeke zibonakalise ngokushesha, kodwa njengoba zikhula. Ngendlela, uma esekhulile, ingane ngokuvamile inenkinga ngesistimu yenhliziyo.

Yini engabonakali ekuqaleni kokubona

Ngisho nezibonakaliso ezingenhla azikwazi njalo ukuqinisekisa ukuthi ingane ine-Down syndrome. Izimpawu ezisanda kuzalwa zingase zibonakale ngokucacile. Odokotela baxilonga ukungezwani kwangaphakathi okungatholakali ngokushesha lapho umntwana ezalwa. Esikhathini esizayo, odokotela kufanele banake izici ezinjalo:

  • Ukuqothuka kwesisu;
  • I-leukemia ye-congenital;
  • I-lens opacity ne-pigmentation kubafundi;
  • Isakhiwo esingavamile sesifuba;
  • Izifo zezinhlelo zokugaya ukudla kanye nezindlela ze-genitourinary.

Bonke bangakwazi ukukhuluma ngokungavamile kwe-chromosomal. Izimpawu ezinjalo ze-Down's syndrome emntwaneni zitholakala kuphela ezimweni eziyishumi ezingaphezu kwekhulu. Futhi ezinye izingane ziqaphele ukuba khona kwama-fontanelles amabili. Ngaphezu kwalokho, azivali isikhathi eside kakhulu. Kuyasungulwa ukuthi zonke izingane ezinalezi zinkinga zifana kakhulu. Futhi izici zabazali ekubukeni kwazo ngokuvamile azibonakali.

Izifo

Kunezindlela eziningana zokukhomba lokhu okungahambi kahle:

  1. Ngosizo lwe-ultrasound, ubukhulu be-"collar" bomntwana obuthene buzimisele. Uma kukhona uketshezi oluncane oluphakathi kwamasonto ayishumi nesishiyagalolunye namashumi ayisishiyagalolunye okukhulelwa kule ndawo, khona-ke kukhona ingozi yokungavamile kwe-chromosomal. Kodwa-ke, indlela yokuziphatha ayibonisi ngaso sonke isikhathi imiphumela efanele.
  2. Indlela ehlanganisiwe. Isisekelo salo sisezingeni lokuthi i-ultrasound yenziwa futhi ukuhlolwa kwegazi okhethekile kuthathwa ngesikhathi esifanayo.
  3. Ukufundwa kwe-amniotic fluid. Abesifazane abathile, ngokusizwa kwalolu daba, batholakala ukuthi banengozi enkulu yokuba nengane ene-Down's syndrome, kufanele baqhubeke nokucwaninga okuqhubekayo ukuze banqume umphumela oqondile.

Izinhlobo zokuphambuka

Izimpawu nezibonakaliso ze-Down's syndrome enganeni esanda kuzalwa zingase zihluke. Kuyavunywa ukuthi ukuphambuka akubonakali ngamabili, kodwa ngamakhophi amathathu we-chromosome engamashumi amabili nanye. Kodwa kukhona nezinye izinhlobo ze-pathology. Mayelana nabo kubaluleke kakhulu ukwazi. Okokuqala, lokhu kungukuthi okuthiwa yi-Down's syndrome. Kubonakala ngokunamathiselwe kwe-chromosome engamashumi amabili nanye kunoma yimuphi omunye. Lokhu kuphambuka akuvamile. Kwenzeka cishe ngamaphesenti amathathu wamacala.

Isifo se-Mosaic sibonakala esimweni lapho i- chromosome eyengeziwe engenawo wonke amaseli omzimba. Le-anomaly ibonakala ngamaphesenti amahlanu weziguli. Olunye uhlobo lwe-syndrome ukuphindaphinda kwengxenye ye-chromosome engamashumi amabili nanye. Kubangela ukukhubazeka okungapheli. Lokhu kuphambuka kubonakala nge-fission yama-chromosomes athile.

Izimpawu ze-fetus

Izingane ezisanda kuzalwa ezine-Down's syndrome zivame ukutholakala. Izimpawu zingabonwa hhayi kuphela kumntwana oye wavela, kepha futhi kusukela ebusweni. Lokhu kuphambuka, njengoba sekushiwo kakade, kungabonakala ku-ultrasound phakathi kwamasonto ayishumi nambili neshumi nane okukhulelwa. Kulesi simo, hlola hhayi ubukhulu bendawo yekholomu, kodwa futhi ubukhulu besithambo esiswini. Uma kuncane kakhulu noma engekho ngokuphelele, lokhu kubonisa ukuba khona kwe-syndrome. Okufanayo kungashiwo nge-collar zone, uma ivulekile ngaphezu kwe-2.5 mm.

Ngezinsuku ezedlule, awukwazi ukubona lokhu kuphela, kodwa nabanye. Kodwa iziguli kufanele ziqonde ukuthi akunakwenzeka ukuthola ngokunembile lesi sifo ebusweni. Kubonakala ukuthi u-5% wezibonakaliso ezibonwe kwi-ultrasound kungenzeka kube amanga.

Izingane ezisanda kuzalwa ezine-Down's syndrome: izimpawu zengane

Abazali abaningi bayamangala kakhulu ukubukeka kwengane yabo. Noma kunjalo, lokhu kungafihla izinkinga eziningi ezinkulu. Izingane ezinjalo zitholakala ezifweni eziningi. Bangabhekana nezifo ezinjalo:

  • Lala ukuthuthukiswa ngokomqondo nangokwenyama.
  • Umbono nokukhubazeka kokuzwa okungahle kwenzeke ngokungalindelekile.
  • Ukunciphisa ekuthuthukiseni amakhono amakhono emoto.
  • Ukuhamba ngokweqile kwamathambo, amalunga nemisipha.
  • Umzimba omncane kakhulu.
  • Izinkinga ngamaphaphu, isibindi nesimiso sokugaya.
  • Isifo senhliziyo esibulalayo kanye nezifo zegazi, kuhlanganise ne-leukemia.

Isinqumo esifanele

Ngenxa yobuchwepheshe besimanje, owesifazane ufunda mayelana nokuba khona kwe-chromosomal pathologies ebusweni. Esikhathini sokuqala, umama angaphazamisa ukukhulelwa, ngaleyo ndlela enqabe ukuphila komntwana ongakazalwa. I-Down syndrome ayiyona isifo esibulalayo. Kodwa unina wengane angakwazi ukunquma kusengaphambili ukuthi kwenzeke yini nokuthi kwenzekani. Kuze kube manje, lokhu okungajwayelekile kwe-chromosomal kuyinto evamile kakhulu. Ungakwazi ukuhlangana nomuntu futhi ungakholelwa ngisho ukuthi une-Down syndrome. Yiqiniso, kunzima kakhulu ukukhulisa ingane enjalo. Ukuphila kwakhe kuyoba okuhlukile kwezinye zezingane. Kodwa akekho oshiwo ukuthi ngeke ajabule. Umama kuphela onelungelo lokunquma isiphetho sakhe.

Izincomo zabazali

Kubalulekile ukuthi ubaba nomama "baby solar" bakhumbule amaqiniso alandelayo:

  1. Izingane ezine-Down's Syndrome ziqeqeshwe ngokugcwele, nakuba zinokulibaziseka kwentuthuko. Ukuze wenze lokhu, udinga ukusebenzisa izinhlelo ezikhethekile.
  2. Izingane ezinjalo zikhula ngokushesha uma zihlangene nabangane abavamile. Kungcono uma bekhuliswa emindenini, hhayi ezikoleni ezikhethekile zokubhoda.
  3. Ngemuva kwesikole, iziguli ezine-chromosome engamashumi amabili nanye zingathola imfundo ephakeme. Ungagxili kakhulu ekuguleni kwengane.
  4. "Izingane zelanga" zinomusa futhi zinobungane kakhulu. Bayakwazi ukuthanda nokudala imindeni ngobuqotho. Kodwa-ke, baneengozi enkulu kakhulu yokuba nengane ene-Down syndrome.
  5. Ngenxa yokuhlinzekwa okusha kwezokwelapha, abantu abanjalo bangakwazi ukuphila isikhathi eside kuze kube yiminyaka engamashumi amahlanu.
  6. Musa ukusola ngokuzalwa kwe "ingane enelanga." Ngisho nabesifazane abanempilo enhle bangakwazi ukubeletha umntwana onjalo.
  7. Uma umndeni wakho unomntwana onalesi simo esingavamile, ingozi yokuvela komntwana ofanayo ingamaphesenti ayisodwa.

I-Down syndrome (izimpawu ezisanda kuzalwa zikhonjisiwe kulesi sihloko) ivumela izingane ukuba zikhule, zithuthukise futhi zijabulele ukuphila. Umsebenzi wethu ukuwasekela, ukunakekelwa nokuthandana.

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