I-Trisomy 21: ukuhlolwa, izimpawu, ukwelashwa, imiphumela

Iyini i-trisomy 21?

Iza esigabeni "se-chromosomal abnormalities", i-trisomy iyindaba yama-chromosomes, ngamanye amazwi izinto zofuzo. Ngempela, kumuntu ongenayo i-Down's syndrome, ama-chromosome ahamba ngamabili. Kunamapheya angama-23 ama-chromosome kubantu, noma ama-chromosome angama-46 esewonke. Sikhuluma nge-trisomy lapho okungenani eyodwa yamapheya ingenawo ama-chromosome amabili, kodwa amathathu.. Lokhu kuphazamiseka kwe-chromosomal kungenzeka ngesikhathi sokusatshalaliswa kwefa lofuzo labalingani ababili, ngesikhathi sokwakhiwa kwama-gametes (i-oocyte nesidoda), bese kuthi ngesikhathi sokuvundiswa.

Nakuba i-trisomy ingathinta noma yimaphi ama-chromosome, eyaziwa kakhulu i-trisomy 21, ethinta ipheya yama-chromosome yama-21.

I-trisomy evamile nesebenzayo, i-trisomy 21, ebizwa nangokuthi I-Down syndrome, ibhekwa ngokwesilinganiso kwabakhulelwe abangu-27 kwabangu-10. Imvamisa yaso iyanda ngeminyaka kamama. Kulinganiselwa ukuthi kunabantu ababalelwa ku-000 abane-Down's syndrome eFrance (cishe izingane ezizalwa ezingama-50 ngonyaka eFrance).

Qaphela ukuthi kunezigaba ezintathu ze-Down's syndrome:

• i-trisomy 21 yamahhala, ephelele ne-homogeneous, emele cishe u-95% wamacala e-trisomy 21:

ama-chromosome amathathu angu-21 ahlukene ukusuka kwelinye, okudidayo kuthinta yonke i-chromosome 21 futhi kwabonwa kuwo wonke amaseli ahloliwe (okungenani lawo ahlaziywa elabhorethri);

• i-mosaic trisomy 21:

amaseli anama-chromosome angu-47 (okuhlanganisa nama-chromosome angu-3 21) ahlala kanye namaseli anama-chromosome angu-46, okuhlanganisa nama-chromosome angu-2 21. Ingxenye yezigaba ezimbili zamaseli iyahlukahluka kusukela kwesinye isihloko kuya kwesinye, kodwa futhi nesitho esisodwa noma kwesinye. izicubu kuya kwesinye kumuntu ofanayo;

• trisomy 21 by translocation:

i-karyotype (okungukuthi, ukuhlelwa kwawo wonke ama-chromosome) abonisa ama-chromosome amathathu 21, kodwa akuwona wonke aqoqwe ndawonye. Enye yama-chromosome amathathu 21 ingaba nama-chromosome amabili 14, noma 12 ...

Izimbangela kanye nezici zobungozi ze-Down's syndrome

I-Trisomy 21 iphumela ekusabalaleni kabi kwama-chromosome phakathi nokuhlukana kwamaseli okwenzeka ngesikhathi sokuvundisa. Okwamanje, akukacaci kahle ukuthi kungani lokhu kwenzeka. Ngakolunye uhlangothi, siyazi ingozi enkulu engozini: iminyaka yomama wesikhathi esizayo.

Owesifazane osekhulile, maningi amathuba okuthi azale ingane ene-trisomy, kanye ne-fortiori ene-trisomy 21. Kusukela ku-1/1 kuya ku-500 iminyaka, leli thuba likhuphuka lisuka ku-20/1 liye eminyakeni engu-1, bese kuba ngu-000/30 kuya Iminyaka engu-1, futhi isuka ku-100/40 iye ku-1 unyaka.

Qaphela ukuthi ngaphezu kweminyaka yobudala kamama, kunezinye izici ezimbili ezibonwayo eziyingcuphe yokuba nengane ene-Down's syndrome, okuyilezi:

• ukuba khona kokungajwayelekile kwe-chromosomal okuxhunyaniswe ne-chromosome 21 komunye wabazali (okubese kuholela ku-trisomy ngokushintshashintsha);
• esevele wazala ingane ene-Down's syndrome.

Yiziphi izimpawu ze-Down's syndrome?

Ngaphezu kokubonakala kwesici sekhanda nobuso (ikhanda elincane neliyindilinga, impande ephawulwe kancane yekhala, amehlo ahlukene, intamo encane futhi ebanzi, njll.), kukhona ezinye izimpawu ezibonakalayo zomzimba: i-strabismus, izandla eziqinile neminwe emifushane, ubude obufushane (akuvamile ukuba ngaphezu kwamamitha ayisithupha kumuntu omdala), ithoni yemisipha ebuthakathaka (hypotonia), futhi ngezinye izikhathi ukukhubazeka okubi kakhulu noma okuncane, inhliziyo, i-ocular, i-digestive, i-orthopedic.

Ukukhubazeka kwengqondo okuhlukahluka kokuqina, okuthinta amandla okukhipha, nakho kuyabonwa. Qaphela, nokho, ukuthi ukubaluleka okukhulu noma okuncane kokushoda kobuhlakani akubandakanyi ukuzimela okuthile kubantu abathintekile. Konke futhi kuncike ekusekelweni, emfundweni nasekuqashweni kwengane ngayinye ene-Down's syndrome.

Iyini imiphumela kanye nezinkinga ze-Down's syndrome?

Imiphumela ye-Down's syndrome ayizona ezinye ngaphandle kwezimpawu ezizibangelayo, eziqala ngokukhubazeka kwengqondo.

Kodwa ngale kwezimpawu zakudala, i-trisomy 21 ingabangela izifo ze-ENT sphere, ukuzwela okukhulu kwezifo, ingozi eyengeziwe yokungezwa ngenxa yezifo ezivamile zezindlebe, izinkinga ezibukwayo (i-myopia, i-strabismus, i-cataracts yokuqala), isithuthwane, ukukhubazeka kwamalunga (scoliosis). , i-kyphosis, i-hyperlordosis, i-kneecaps ephathekayo, njll.) exhunywe ku-hyperlaxity ye-ligament, izinkinga zokugaya ukudla, izifo ezivame kakhulu zokuzivikela komzimba, noma umdlavuza ovame kakhulu (i-leukemia yengane, i-lymphoma ekukhuleni ikakhulukazi) ...

Ukuhlolwa: kuhamba kanjani ukuhlolwa kwe-Down's syndrome?

Njengamanje eFrance, ukuhlolwa kokuhlolwa kwe-trisomy 21 kunikezwa ngokuhlelekile kwabesifazane abakhulelwe. Iqukethe endaweni yokuqala yokuhlolwa kwegazi okuhambisana ne-ultrasound, okwenzeka phakathi kwamaviki ayi-11 nayi-13 e-amenorrhea, kodwa kuhlala kungenzeka kuze kube amasonto angu-18 e-amenorrhea.

Ukuhlolwa kwezimpawu ze-serum (amaprotheni) egazini likamama, okuhambisana nezilinganiso ze-ultrasound (i-nuchal translucency ikakhulukazi) kanye neminyaka yobudala yomama ozayo, kuvumela ukubalwa kwengozi yokubeletha ingane ene-Down's syndrome.

Qaphela ukuthi lokhu kungenzeka futhi akusona isiqiniseko. Uma ingozi ingaphezu kwe-1/250, ibhekwa "phezulu".

Uma ubungozi obaliwe bungaphezu kuka-1/250, ukuhlolwa okwengeziwe kunikezwa: ukuhlolwa kokubeletha okungahlaseli, noma i-amniocentesis.

I-Trisomy 21: yikuphi ukwelashwa?

Okwamanje, akukho ukwelashwa “kokwelapha” i-trisomy 21. Ungumthwali walokhu kungavamile kwe-chromosomal ukuphila kwakho konke.

Nokho, izindlela zocwaningo ziyahlolwa, ikakhulukazi ngenjongo, hhayi yokukhipha i-chromosome eyeqile, kodwa yokukhansela ithonya layo. Kodwa nakuba le chromosome incane kunazo zonke kulawa, iqukethe izakhi zofuzo ezingaphezu kuka-250. Ukuyisusa ngokuphelele, noma ukuyithulisa, kungase kube nemiphumela engemihle.

Enye indlela esacwaningwayo ihlanganisa ukukhomba izakhi zofuzo ezithile ze-chromosome 21 ngokweqile, ukuze kusebenze kuzo. Lezi izakhi zofuzo ezinokuxhumana okuseduze nokufunda, inkumbulo noma ubunzima bokuqonda kubantu abane-Down's syndrome.

I-Trisomy 21: ukuphathwa kwayo

Ukuze ingane ene-Down's syndrome ifinyelele izinga elithile lokuzimela lapho isikhulile, futhi ingahlushwa izinkinga eziningi ngokwempilo yayo, ukulandela umkhondo wezokwelashwa kungaphezu kokululekwa.

Ngoba ngaphezu kokukhubazeka okungenzeka kokuzalwa, i-trisomy 21 yandisa ingozi yezinye izifo ezifana ne-hypothyroidism, isithuthwane noma i-apnea syndrome. Ngakho-ke kudingeka ukuhlolwa okuphelele kwezokwelapha lapho uzalwa. ukuthatha isitoko, kodwa futhi njalo phakathi nokuphila.

Mayelana namakhono emoto, ulimi, ukuxhumana, ukusekelwa kochwepheshe abaningana kuyadingeka ukuze usize izingane ezine-Down's syndrome zithuthukise amakhono azo aze afike phezulu. Ngalokho, ama-psychomotor Therapists, ama-physiotherapist noma abelaphi benkulumo zingochwepheshe ingane ene-Down's syndrome okuyodingeka ibabone njalo ukuze ithuthuke.

Ukusabalala kulo lonke elase-Mainland France naphesheya kwezilwandle, ama-CAMSP, noma izikhungo zangaphambi kwesikhathi ze-medico-social action, ziyakwazi ukunakekela izingane ezine-Down's syndrome. Konke ukungenelela okwenziwa ama-CAMSP kungaphansi koMshwalense Wezempilo. Ama-CAMSP axhaswe ngama-80% yisikhwama somshuwalense wezempilo oyisisekelo, kanti ama-20% axhaswe nguMkhandlu Jikelele athembele kuwo.

Akufanele futhi ungangabazi ukubiza izinhlangano ezihlukahlukene ezikhona ezizungeze i-Down's syndrome, ngoba zingadlulisela abazali kochwepheshe nezinhlaka ezikwazi ukunakekela ingane yabo.

Usuku Lomhlaba Lwe-Down Syndrome

Njalo ngonyaka, uMashi 21 wuSuku Lomhlaba Lwe-Down's Syndrome. Lolu suku aluzange lukhethwe ngenhlanhla, njengoba lungomhla ka-21/21, noma 03/3 ngesiNgisi, olunanela ukuba khona kwama-chromosome amathathu angu-21.

Lolu suku luhlelwe okokuqala ngo-2005, luhlose ukwenza umphakathi wazi kangcono ngalesi sifo, okuyisona sizathu esiyinhloko sokukhubazeka kwengqondo kubantu abanokukhubazeka kwengqondo. Umbono owokubili ukuqwashisa ngalesi simo ukuze kuhlanganiswe kangcono abantu abanalesi sifo emphakathini, nokuqhubeka nokucwaninga ukuze ubanakekele kangcono bobabili ezingeni lezokwelapha nelemfundo.

Amasokisi angafani ukuze aqwashise nge-Down's syndrome

Yaqalwa ngo-2015 yinhlangano “Down Syndrome International” (DSI) futhi yasakazwa ngabakwa-Trisomy 21 France, ukuhlinzwa kwe-# socksbatlle4Ds (Amasokisi empi ye-Down Syndrom) kuhlanganisa ukugqoka amasokisi angafani nge-World Down Syndrome Day, ngoMashi 21. Umgomo: ukukhuthaza ukuhlukahluka nomehluko, kodwa futhi nokwenza kwaziwe ukuphila kwabantu abane-Down's syndrome kanye nezinhlangano ezisebenzela ukubasekela.