Trisomy 21: kuongorora, zviratidzo, kurapwa, migumisiro

Chii chinonzi trisomy 21?

Kuuya muchikamu che "chromosomal abnormalities", trisomy inyaya yemachromosomes, nemamwe mazwi genetic material. Chokwadi, mumunhu asina Down's syndrome, machromosome anoenda ari maviri maviri. Kune 23 mapeya emachromosome muvanhu, kana makumi mana nematanhatu echromosomes. Isu tinotaura nezve trisomy kana imwe yemaviri isina maviri, asi matatu machromosomes.. Iyi chromosomal anomaly inogona kuitika panguva yekugoverwa kweiyo genetic nhaka yevaviri vanobatana, panguva yekusikwa kwemagametes (oocyte uye urume), ipapo panguva yekusangana.

Nepo trisomy ichigona kukanganisa chero maviri emakromosomes, inonyanya kuzivikanwa ndeye trisomy 21, iyo inobata 21st machromosomes.

Iyo inonyanya kuzivikanwa uye inoshanda trisomy, trisomy 21, inonziwo Down chirwere, inoonekwa paavhareji mu 27 pamuviri kubva pa 10. Kuwanda kwayo kunowedzera nezera reamai. Zvinofungidzirwa kuti kune vangangoita 000 vanhu vane Down's syndrome muFrance (vanenge 50 vanozvarwa pagore muFrance).

Ziva kuti kune zvikamu zvitatu zveDown's syndrome:

• yemahara, yakakwana uye ine homogeneous trisomy 21, inomiririra ingangoita 95% yemakesi e trisomy 21:

makromozomu matatu 21 akapatsanurwa kubva kune mumwe, iyo inomaly ine chekuita nezvese kromosome 21 uye yakaonekwa mumaseru ese akaongororwa (angangoita ayo akaongororwa murabhoritari);

• mosaic trisomy 21:

masero ane 47 chromosomes (kusanganisira 3 chromosomes 21) anogara nemasero ane 46 chromosomes, kusanganisira 2 chromosomes 21. Chikamu chezvikamu zviviri zvemasero chinosiyana kubva kune imwe nyaya kuenda kune imwe, asiwo kubva kune imwe nhengo kana imwe. imwe nyama kune imwe mumunhu mumwe chete;

• trisomy 21 by translocation:

iyo karyotype (kureva, kurongeka kwemakromozomu ese) inoratidza makromozomu matatu 21, asi asiri ese akaunganidzwa pamwechete. Imwe yemachromosomes matatu 21 inogona semuenzaniso kuva nemakromosomes maviri 14, kana 12 ...

Zvinokonzera uye njodzi zvinhu zveDown's syndrome

Trisomy 21 inokonzerwa nekusagovera zvakanaka kwemakromosome panguva yekupatsanurwa kwesero kunoitika panguva yekusangana. Panguva ino, hazvisati zvanyatsojeka kuti sei izvi zviri kuitika. Kune rumwe rutivi, tinoziva chinhu chikuru chengozi: zera remangwana amai.

Mukadzi mukuru, anowedzera mukana wekusununguka mwana ane trisomy, uye fortiori ane trisomy 21. Kubva pa 1/1 kusvika kumakore 500, mukana uyu unokwira kubva pa20/1 kusvika kumakore 1, ipapo 000/30 kusvika 1 makore, uye kunyange kubva 100/40 kusvika 1 makore.

Ziva kuti pamusoro pezera raamai, kune zvimwe zviviri zvinozivikanwa zvengozi yekuva nemwana ane Down's syndrome, zvinoti:

• kuvapo kwechromosomal abnormality yakabatana nechromosome 21 mune mumwe wevabereki (izvo zvinozoguma ne trisomy ne translocation);
• ndatozvara mwana ane Down's syndrome.

Ndezvipi zviratidzo zveDown's syndrome?

Pamusoro pechimiro chemusoro nechiso (mudiki uye wakatenderera musoro, wakadzikwa zvishoma midzi yemhino, maziso akaparadzana, mutsipa diki uye wakafara, nezvimwewo), kune zvimwe zviratidzo zvemuviri: strabismus, maoko akasimba uye zvigunwe zvipfupi, kureba kupfupi (kashoma kupfuura tsoka nhanhatu mumunhu mukuru), kushata kwetsandanyama (hypotonia), uye dzimwe nguva zvimwe kana zvishoma zvakakomba malformations, mwoyo, maziso, kugaya, mapfupa.

Hurema hwepfungwa hwekusimba kwakasiyana, huchikanganisa hunyanzvi hwekubvisa, hunoonekwa zvakare. Ziva, zvisinei, kuti kukosha kukuru kana kushoma kwekushomeka kwenjere hakubvisi kumwe kuzvitonga muvanhu vabatwa. Zvese zvinoenderana nerutsigiro, dzidzo uye kutariswa kwemwana wega wega ane Down's syndrome.

Ndeipi mhedzisiro uye matambudziko eDown's syndrome?

Mibairo yeDown's syndrome haisi imwe kunze kwezviratidzo zvainokonzeresa, kutanga nekuremara kwenjere.

Asi kunze kwezviratidzo zvekare, trisomy 21 inogona kukonzera zvirwere zve ENT sphere, kunzwisiswa kwehutachiwana, kuwedzera kwengozi yekusanzwa nekuda kwekugara uchibatwa nenzeve, matambudziko ekuona (myopia, strabismus, kutanga cataracts ), pfari, kukanganiswa kwekubatana (scoliosis). , kyphosis, hyperlordosis, luxable kneecaps, etc.) yakabatana ne ligament hyperlaxity, matambudziko ekugaya, zvirwere zvinowanzoitika zve autoimmune, kana zvimwe zvinowanzoita kenza (udiki leukemia, lymphoma muhukuru kunyanya) ...

Kuongorora: bvunzo yeDown's syndrome iri kufamba sei?

Parizvino muFrance, bvunzo yekuongorora yetrisomy 21 inopiwa zvakarongeka kuvakadzi vane pamuviri. Inowanikwa munzvimbo yekutanga yekuongororwa ropa pamwe chete neultrasound, iyo inoitika pakati pemasvondo gumi nerimwe negumi nematatu eamenorrhea, asi inoramba ichibvira kusvika kumasvondo gumi nemasere eamenorrhea.

Kuongororwa kwemaserum markers (mapuroteni) muropa raamai, pamwe chete nezviyero zve ultrasound (nuchal translucency kunyanya) uye pazera remangwana amai, inobvumira kuverenga kwenjodzi yekuzvara mwana ane Down's syndrome.

Ziva kuti izvi zvinogoneka uye kwete chokwadi. Kana njodzi iri pamusoro pe1/250, inonzi "yakakwirira".

Kana njodzi yakaverengerwa iri pamusoro pe1/250, ongororo dzekuwedzera dzinopihwa: non-invasive prenatal screening, kana amniocentesis.

Trisomy 21: kurapwa kupi?

Parizvino, hapana kurapwa kwe "kurapa" trisomy 21. Iwe uri mutakuri weichi chromosomal abnormality kwehupenyu.

Nekudaro, nzira dzekutsvagisa dziri kuongororwa, kunyanya nechinangwa, kwete chekubvisa chromosome yakawandisa, asi yekukanzura simba rayo. Asi kunyangwe zvazvo chromosome iyi iri diki pane idzi, ine majini anopfuura mazana maviri nemakumi mashanu. Kuidzima zvachose, kana kutoinyararidza, kunogona kuva nemigumisiro yakaipa.

Imwe nzira iri pakudzidza ine kunanga mamwe majini echromosome 21 yakawandisa, kuitira kuti aite paari. Aya ndiwo majini ane hukama hwepedyo nekudzidza, ndangariro kana kugona kuziva muvanhu vane Down's syndrome.

Trisomy 21: manejimendi ayo

Kuti mwana ane Down's syndrome asvike pane imwe nhanho yekuzvimiririra mukukura, uye asatambure zvakanyanya matambudziko maererano neutano hwake, kunotevera kurapwa kunopfuura kurairwa.

Nekuti pamusoro pezvingangoitika zvekuzvarwa malformations, trisomy 21 inowedzera njodzi yezvimwe zvirwere zvakadai se hypothyroidism, pfari kana kurara apnea syndrome. Kuongororwa kwechiremba kwakakwana naizvozvo kunodiwa pakuzvara. kutora stock, asiwo nguva dzose pamusoro pehupenyu.

Panyaya yehunyanzvi hwemotokari, mutauro, kutaurirana, kutsigirwa kubva kune akati wandei nyanzvi kunodiwa kuitira kubatsira vana vane Down's syndrome kukudziridza kugona kwavo kusvika pakakwirira. Naizvozvo, psychomotor therapists, physiotherapists kana kutaura varapi inyanzvi idzo mwana ane Down's syndrome anofanira kugara achiona kuti afambire mberi.

Yakapararira munyika yose yeFrance nemhiri kwemakungwa, maCAMSPs, kana kuti nzvimbo dzekutanga dzemishonga-social action, dzinonzi dzinokwanisa kuchengeta vana vane Down's syndrome. Zvose zvekupindira kunoitwa neCAMSPs zvakavharwa neHealth Insurance. MaCAMSP anopihwa mari nechikamu che80% kubva kuPrimary Health Insurance Fund, uye 20% neGeneral Council iyo yavanovimba nayo.

Iwe zvakare haufanirwe kuzeza kufona kune akasiyana masangano aripo akatenderedza Down's syndrome, nekuti vanogona kuendesa vabereki kune nyanzvi uye zvimiro zvinokwanisa kuchengeta mwana wavo.

Zuva reWorld Down Syndrome Day

Gore rega rega, Kurume 21 iWorld Down's Syndrome Day. Zuva iri harina kusarudzwa netsaona, sezvo ari 21/21, kana 03/3 muchiRungu, izvo zvinoenderana nekuvapo kwemakromosomes matatu 21.

Rakarongwa kekutanga muna 2005, Zuva iri rine chinangwa chekuti veruzhinji vazive nezvechirwere ichi, icho pari zvino chiri chikonzero chikuru chekuremara kwepfungwa muvanhu vane hurema hwepfungwa. Pfungwa iyi ndeyekusimudza ruzivo nezvechirwere ichi kuitira kubatana kuri nani kwevanhu vane chirwere munharaunda, uye kuenderera mberi nekutsvaga kuti vatarisire zvirinani padanho rekurapa neredzidzo.

Masokisi asina kufananidzwa ekusimudzira ruzivo nezve Down's syndrome

Yakatangwa mu2015 nesangano re "Down Syndrome International" (DSI) uye yakatumirwa neTrisomy 21 France, iyo # socksbatlle4Ds (Socks battle for Down Syndrom) oparesheni inosanganisira kupfeka masokisi asina kuenderana eWorld Down Syndrome Day, iyo Kurume 21st. Chinangwa: kusimudzira siyana uye mutsauko, asiwo kuita kuti hupenyu hwevanhu vane Down's syndrome huzivikanwe uye masangano anoshanda kuvatsigira.