Mwana ari pasi-izvi zvinorevei? Zviratidzo uye Zviratidzo zveArt Syndrome

Izwi rokuti "pasi" munharaunda yemazuva ano rinowanzoshandiswa sechinhu chinonyadzisa. Panyaya iyi, vanaamai vakawanda vane moyo unononoka vachimirira migumisiro ye ultrasound, vachitya kuzvidya mwoyo zviratidzo. Mushure mezvose, mwana mumhuri chiratidzo chakaoma, chinoda muviri uye mupfungwa mupfungwa. Saka chii chinonzi Down syndrome? Ndezvipi zviratidzo zvaro uye zviratidzo?

Chii chinonzi Down Syndrome?

Down's Syndrome iyi inonzi genetic pathology, congenital chromosomal anomaly. Iyo inoperekedzwa nekutsauka kwevamwe zviratidzo zvemishonga uye kuputsa kwekugadzirwa kwemuviri. Zvakakosha kucherechedza kuti shoko rokuti "chirwere" haritauri pano, sezvo iri mubvunzo wegadziriro yemamiriro ezvinhu uye zvimwe zviito, i.e. Nezve syndrome.

Kunyanya kutaurwa kwechirwere kwaifungidzirwa chakacherechedza makore 1500 apfuura. Ndiyo zera iro rinonzi kunosara kwemwana ane zviratidzo zvepasi syndrome inowanikwa muNecropolis yeguta reFrance reChalon-sur-Saone. Kuvigwa kwakanga kusiri kwakasiyana nedzimwe nguva, iyo inogona kugumiswa kuti vanhu vane zvikanganiso zvakafanana vakanga vasina kuiswa pasi pekumanikidzwa kwevanhu.

Down syndrome yakatanga kurondedzerwa muna 1866 nechiremba weBritish John Langdon Down. Zvino musayendisiti akadana ichi chiitiko "Mongolism". Mushure mechinguva, chirwere chacho chakatumidzwa zita remapiyona.

Ndezvipi zvikonzero?

Zvikonzero zvinoita kuti vana vane Down's syndrome vaoneke, zvakazozivikanwa muna 1959 chete. Zvadaro musayendisiti weFrance Gerard Lezhen akaratidza maitiro ehutano hwehutano huno.

Zvakazoitika kuti chikonzero chechokwadi chechirwere ndechekuonekwa kweimwe chromosomes. Inoumbwa pachigamba chekuberekwa. Mumunhu ane hutano, makumi maviri nemaviri emakromosomes ari mumusero mumwe nomumwe, mumasero ekuita zvepabonde (egg masero nemademoni masero) pane imwe hafu yavo - 23. Asi panguva yekudyara, mazai ne spermatozoon vanobatanidza, mazita avo emagetsi anobatana nekuumba sero itsva - zygote.

Nokukurumidza zygote inotanga kugovana. Munguva iyi, pane nguva inouya apo nhamba yekromosomes muzvigadzirira-ku-split seviri yakapetwa kaviri. Asi vanobva vatanga kuenda kumapuranga akasiyana esero, mushure mokunge yakakamurwa nehafu. Uye pano kunouya kukanganisa. Apo ma-chromosomes maviri maviri anosiyana, anogona "kubata" mumwe. Iyo zygote inoramba ichiparadzanisa kazhinji, embryo inoumbwa. Saka pane vana vane Down syndrome.

Mafomu echirwere

Kune marudzi matatu eA Down syndrome zvichienderana nemamwe maitiro ezve genetic nzira dzakatangira:

• Trisomy. Iyi ndiyo nyaya yekare, iyo inowanikwa ndeye 94%. Inoitika apo kukanganisa kunowanikwa apo 21 mapaundi ema-chromosomes anoparadzanisa panguva yekuparadzaniswa.
• Translocation. Urwu urwu hweA Down syndrome hauna kufanana, mu 5% chete yematambudziko. Panguva imwe chete, chikamu che chromosome kana gasi rose rinotamirwa kune imwe nzvimbo. Genetic material inogona "kutumbuka" kubva kune imwe chromosome kuenda kune imwe, kana mukati memukati mome. Mukubuda kwechirwere chakadaro, mazita ekuberekwa kwebaba anoita basa rinokosha.
• Mosaicism. Chimwe chinonyanya kuwanikwa chechirwere chinoitika mu 1-2% yemhosva. Nekuputsa uku, mamwe masero mumuviri ane chitubu chemachromosomes - 46, uye imwe chikamu-yakawedzerwa, i.e. 47. Vana vanoenda pasi vari nehanaic syndrome vanogona kusiyanana nevezera ravo, asi zvishoma nezvishoma mushure mekuvandudza mupfungwa. Kazhinji kuongorora kwakadaro kwakaoma kusimbisa.

Kuratidzwa kwechirwere

Kuvapo kweArt's syndrome mumwana zviri nyore kuziva pakarepo mushure mekuberekwa. Zvakakosha kubhadhara zvinotevera zviratidzo:

• Musoro wehukuru hukuru, flat flat;
• Chiso chinotarisa, chakanyatsogadzirirwa nemhino;
• Chidiki chiduku, muromo, nzeve;
• Meso ane hutano hwekunze uye oblique incision;
• Kazhinji muromo unozarurirwa zvishoma;
• Makumbo madiki, minwe, mutsipa;
• Yakaneta mutsara inzwi;
• Zvichindwe zvakapetwa nechemberi rinoputika (monkey) panga.

Kazhinji kazhinji, vacheche neArt's syndrome vanozivikanwa nezviratidzo izvi. Vanogona kugadziriswa kwete chete nenyanzvi, asiwo nemunhuwo zvake. Ipapo hutachiona hunosimbiswa nekuongororwa kwakanyatsorongeka uye rutsva rwekuedzwa.

Ndeipi ngozi yechirwere?

Kana mhuri yakaberekwa pasi, unofanirwa kubata izvi nekufungisisa kwakakodzera. Sezvo mutemo, vana ava, kuwedzera kune zviratidzo zvekunze, vanoita hutano hwakakomba:

• Chisimba chekudzivirira;
• Congenital heart diseases ;
• Abnormal development of the chest.

Pamusana pezvikonzero izvi, kukonzerwa nevana kunowanzosangana nehutachiona hwehutana, hunotambura nemapfupa emapapu. Mukuwedzera, kukura kwayo ndiko Nekudzokera shure mukukura kwepfungwa uye kwemuviri. Kumbomira kuumbwa kwekudya kwegumbo kunogona kutungamirira pakuderera kwebasa re enzyme uye kuoma mukugadzira zvokudya. Kazhinji vana-pasi vanoda kushanda kwemwoyo wakaoma. Mukuwedzera, anogona kukura kusagadzikana kweimwe nhengo dzomukati.

Dzimwe nguva kudzivisa migumisiro isina kufadza kubatsira maitiro anotorwa nenguva. Saka, kuongororwa kwemazuva ano kuchiri kukosha pachikwata chekurera mukati memwana asina kuberekwa.

Matambudziko emapoka

Paavhareji, chiitiko che Down Down chirwere chiri 1: 600 (1 mwana pa600). Zvisinei, zviratidzo izvi zvinosiyana zvichienderana nezvinhu zvakawanda. Masoro anowanzoberekwa nevakadzi mushure memakore makumi matatu nemashanu. Mukuru wacho mukadzi, inonyanya kuisa mukana wekuonekwa kwemwana asina kukwana. Nokudaro, zvakakosha kuti vanaamai vane makore makumi matatu nemakumi mashanu vatarisise zviongorori zvezvemishonga zvakakosha pamatanho akasiyana ekudzivirira.

Zvisinei, kuberekwa kwevana vane Down syndrome kunoitika kune vanamai pasi pemakore makumi maviri nemashanu. Zvinotsanangurwa kuti zvikonzero zveizvi zvinogonawo kuva nguva yebaba, kuvapo kwehukama hwepedyo hwemhuri uye, kusinganzwisisiki, nguva yembuya.

Diagnostics

Nhasi iwe unogona kuona kuti Down's syndrome inenge yavapo padanga rekudzivirira. Izvo zvinonzi "kuongorora kwakadzika" zvinosanganisira zvidzidzo zvakawanda. Nzira dzose dzekuongororwa asati aberekwa dzinonzi dzinotanga kuberekwa uye dzinogadziriswa kuva mapoka maviri:

• Kuvhiringidzika - kureva kushandiswa kwekuvhiya muamniotic fluid;
• Kwete-isina kuvhiringidza - pasina kupinda mukati mumuviri.

Boka rokutanga rezvipimo rinosanganisira:

• Amniocentesis. Nete inokosha inobereka fence ye amniotic fluid. Mitsara iri mune iri mvura yakasvibiswa kune mazita ekuongorora maitiro ekuvapo kwechromosomal kusagadzikana. Nechepfungwa, nzira yacho inogona kutakura ngozi kune ramangwana rekuzvarwa, naizvozvo haisi kupiwa kune munhu wose.
• Fence duku shoma (biopsy), iyo ndiyo envelopu ye fetus (chorion). Zvinotendwa kuti zvinhu zvakagadzirirwa zvinopa chikonzero chinonyatsovimbika chekuongorora kwemajini.
  

Boka rechipiri rekushandisa rinosanganisira rakachengeteka, somuenzaniso, zvidzidzo zve ultrasound uye biochemical. Down syndrome pa ultrasound inowanikwa kubva muvhiki yechiviri yekubata. Kazhinji tsvakurudzo yakadaro inosanganiswa neropa rekuongorora. Kana pane njodzi yokuti mukadzi achava nemwana pasi, anofanirwa kupinda mumatambudziko akawanda.

Inogona kudziviswa here?

Kudzivirira kutaridzika kwomwana ane Down's syndrome kunogoneka chete musati mutezo unotanga nehupenyu hwekuongorora mai nababa. Kuongororwa kwakakosha kucharatidza dambudziko rekuitika kwechirwere chechiromosomal mune ramangwana fetus. Panguva imwecheteyo, zvinhu zvakawanda zvinotorwa munyaya-yezera raamai, baba, mbuya, kuvapo kwewanano nevana vehama, matambudziko ekuberekwa kwevana vari pasi mumhuri.

Sezvo wakadzidza nezvechinetso panguva yekutanga, mukadzi ane kodzero yekuzvisarudzira pakarepo. Kurera mwana neArt's syndrome yakanyanya kuoma uye inopedza nguva. Upenyu hwake hwose mwana akadai achada kurapwa kwepamusoro-kura. Zvisinei, hazvifaniri kukanganwa kuti kunyange vana vane dambudziko rakadaro vanogona kupinda chikoro zvizere uye kubudirira kubupenyu.

Pane chirwere here?

Inofungidzirwa kuti Down syndrome haibvumiri kurapwa, sezvo ichi ichi chirwere chekuberekwa. Zvisinei, kune nzira dzekuderedza kuonekwa kwayo.

Vana vane Down's syndrome vanoda kunyanya kutarisirwa. Pamwe chete nehutano hwakakosha, vanoda kurera zvakakodzera. Havagoni kudzidza kudzidzira kuzvitarisira kwenguva yakareba, saka zvakakosha kuvadzidzisa unyanzvi uhwu. Mukuwedzera, vanoda kugara vachirovedzwa nemudzidzisi wekutaura uye chiremba-physotherapist. Pano pane zvirongwa zvekugadzirisa zvirwere zvevana vakadaro, zvichivabatsira kukura nekugadzirisa munharaunda.

Mazuva ano shanduko yekusimudzira shanduro sekurapa nemasero ekudzivirira kunogona kubhadhara mucheche mukukura kwemuviri wemwana. Therapy inogona kusimbisa kukura kwemapfupa, kukura kwehuropi, kuvandudza kudya kwakakodzera kwemuviri, uye kusimbisa hutachiona. Kuiswa kwemasero emadziviri mumuviri kunotanga pakarepo mushure mokuberekwa.

Pane uchapupu hwekubudirira kwekurapa kwenguva refu nemimwe mishonga. Vanovandudza mararamiro uye vanoita kuti zvive nehupenyu hwekurera mwana ane Down syndrome.

Down and Society

Vana vane Down's syndrome vane zvakaoma zvikuru kutarisana nevanhu. Asi vanoda ruzivo. Vana veAlls vane ushamwari kwazvo, zviri nyore kuonana, zvakanaka, pasinei nemafungiro evanhu. Nokuda kwehutsika idzi ivo vanowanzozonzi "vana vezuva".

MuRussia, mafungiro kune vana vanotambura nekromosomal anomalies haisi yakanaka-natured. Mwana ari kuseri kumashure mukubudirira angave nyaya yekusekwa pakati pezera rake, izvo zvichava nemigumisiro inokuvadza kukura kwepfungwa.

Vanhu vane Down's syndrome vachawana matambudziko muupenyu hwavo hwose. Havangopindi muchikoro chechikoro, kuchikoro. Vane dambudziko pakuwana basa. Hazvisi nyore kwavari kuti vatange mhuri, asi kunyange kana ichibudirira, kune matambudziko ane mukana wokuva nevana. Vanhu vari pasi havana maturo, uye vakadzi vane njodzi yakakura yokuva nevana vanorwara.

Zvisinei, vanhu vane Down syndrome vanogona kutungamirira hupenyu hwakakwana. Ivo vanogona kudzidza, pasinei nokuti izvi zvinotanga kuitika kwavari zvishoma nezvishoma. Pakati pevanhu vakadaro kune vatadzi vane matarenda mazhinji avo veTheater of the Simple-minded yakagadzirwa muMoscow muna 1999.