Mwana pansi - zikutanthauza chiyani? Zizindikiro za matenda Down

Mawu "pansi" masiku ano nthawi zambiri ntchito ngati chipongwe ndi. Pa nkhani imeneyi, amayi ambiri ndi bated mpweya kuyembekezera zotsatira za ultrasound, chifukwa cha kuwopa zizindikiro akusokoneza. Ndipotu, mwana pansi m'banja - ndi vuto linalake kuti amafuna nkhawa thupi ndiponso maganizo. Nanga ozerezeka? ndi zizindikiro ndi zizindikiro zotani?

Ozerezeka ndi chiyani?

Pansi ndi matenda - chosayenerera pamajini, kobadwa nako chromosomal chosayenerera. Iwo limodzi ndi kukana ena zizindikiro thanzi ndi kusokonezeka chitukuko yachibadwa thupi. Nkofunika kudziwa kuti mawu akuti "matenda" sichiri, popeza tikulankhula ya makhalidwe ndi maonekedwe enieni, mwachitsanzo wa matendawa.

Kungotchula oyambirira matendawa ankati zinachitika zaka 1500 zapitazo. Izi ndi zaka zimachitika zotsalira za mwana ndi zizindikiro za matenda Down a, opezeka necropolis za mzinda wa ku France Chalon-sur-Saône. Manda sanali wosiyana alipidwa, wochokera tinganene kuti anthu olumala ofanana sali pansi kuthamanga anthu.

Kwa nthawi yoyamba syndrome Down limafotokonzera 1866 ndi dokotala John Langdon Down a British. Kenako wasayansi wotchedwa zodabwitsazi "mongolism." Patapita nthawi, kudwala ndi unatchedwa anatulukira lapansi.

ndi zoyambitsa chiyani?

About zifukwa zomwe pali ana ndi matenda pansi, anadziwika kokha mu 1959. Ndiye conditionality chibadwa cha matenda chimene chasonyeza ndi French wasayansi Gerard Lejeune.

Kunapezeka kuti chifukwa chenicheni cha matendawa - zikamera ya nsapato zapadera DNA. Iwo apangidwa pa siteji ya umuna. Mwachibadwa, munthu wathanzi mukachipinda ndi awiriawiri 46 DNA maselo nyongolosi (dzira ndi umuna ndi) pali ndendende theka - 23. Koma pa nthawi ya chonde kwa dzira ndi umuna lama fuyusi, zida zawo majini kuphatikiza kupanga latsopano selo - ndi zygote.

Posachedwapa, zygote ayamba kugawa. Pa ndondomekoyi, apo pakubwera nthawi imene topangira DNA selo ndi okonzeka kugawana ndi kawiri. Koma nthawi yomweyo kumwazikana kwa mizati osiyana khungu, ndiye iye wagawanika pa theka. Apa ndi pamene zolakwa kumachitika. Pamene osemphana 21th awiri DNA, zikhoza "akathyole" wina ndi mnzake. Zygote akupitiriza mobwerezabwereza kugawa anapanga mwana wosabadwayo. Choncho pali ana ndi matenda Down.

mitundu ya matendawa

Pali mitundu itatu ya matenda Down, malingana ndi maonekedwe a zimagwirira majini a asayembekezere:

• Trisomy. Izi ndi tingachipeze powerenga nkhani ya pakuwonekera kwake - 94%. Kumachitika pamene pali chisokonezo pa divergence awiriawiri 21 DNA pa magawano.
• Translocation. Mtundu uwu wa syndrome Pansi ndi zochepa wamba, 5% ya milandu. Choncho pali kulanda mbali ya khromozomu jini lonse kapena kwina. zakuthupi majini akhoza "kudumpha" kuchokera khromozomu wina ndi mzake kapena mu khromozomu chomwecho. Maonekedwe a syndrome ichi chimagwira zikuluzikulu udindo majini bambo zakuthupi.
• Mosaicism. Kwambiri kawirikawiri zikuchitika mawonekedwe a matendawa, imapezeka mu 1-2% ya milandu. Ndi kuphwanya ngati selo thupi lili akonzedwa yachibadwa DNA - 46, ndipo gawo lina - kuchuluka, ie, 47. Ana ndi matenda zithunzi Down angakhale osiyana pang'ono ndi anzawo, koma pang'ono m'mbuyo ku chitukuko maganizo. Childs, monga matenda ndi zovuta kuti atsimikizire.

Chiwonetsero cha matendawa

Kuti mwana ali ndi matenda Down ali mosavuta anazindikira yomweyo pambuyo pa kubadwa. M'pofunika kulabadira zinthu zotsatirazi:

• mutu wa kukula yaing'ono, lathyathyathya kumbuyo kwa mutu;
• lathyathyathya nkhope, flattened mphuno mlatho;
• ang'ono chibwano, pakamwa, makutu;
• diso ndi khola khalidwe ndi kudula oblique;
• Nthawi zambiri adatsegula pakamwa pake;
• yochepa miyendo, zala khosi;
• lotereli minofu kamvekedwe;
• migwalangwa yotakata ndi khungu yopingasa (nyani) pindani.

Nthawi zambiri, ana ndi matenda Down akuzindikiridwa ndi zizindikiro. Iwo akhoza kudziwa osati katswiri, komanso anthu wamba. Ndiye, matenda zikutsimikiziridwa ndi kuyendera zambiri ndipo ambiri kufufuza.

Koopsa syndrome?

Ngati banja anabadwa pansi, muyenera kuchitira ndi chisamaliro chifukwa. Kawirikawiri ana awa, kuwonjezera zizindikiro zakunja kukhala matenda:

• chitetezo chokwanira mkhutu;
• kobadwa nako matenda a mtima ;
• nthenda chitukuko cha pachifuwa.

Pazifukwa izi, mwana pansi zambiri poyera kuti matenda ndili mwana akudwala matenda m'mapapo mwanga. Komanso kukula amagwirizana kukula m'maganizo ndi m'thupi. Wosakwiya mapangidwe dongosolo m'mimba mwina zikuphatikizapo kuchepetsa ntchito enzyme, ndi mavuto chimbudzi. Kawirikawiri mwana pansi kudziŵa opaleshoni yovuta mtima. Komanso amatha kukanika ziwalo zina.

Nthawi zina, kupewa zotsatira zoipa za zochita anatengedwa mu nthawi kuthandiza. Choncho, n'kofunika kuti kafukufuku pa siteji ya chisanadze-Natal kukula kwa mwanayo.

anthu okhudzidwa

Pafupifupi kufala kwa matenda Down a - 1: 600. (1 mwana mu 600). Komabe, Chiwerengerochi ikhoza kusintha kutengera zinthu zambiri. zotsika ana nthawi zambiri anabadwa kwa akazi zaka zoposa 35. Akulu mkazi, wamkulu chiopsezo ndi mwana olumala. Choncho amayi a zaka 35 Nkofunika kuti atenge zofunika mayeso onse zachipatala pamisinkhu yosiyanasiyana mimba.

Komabe, kubadwa kwa ana ndi matenda Down amapezeka amayi zaka 25. Anapeza kuti zifukwa angakhalenso m'badwo bambo, pamaso pa mabanja yogwirizana ndi, oddly mokwanira, m'badwo wa agogo.

diagnostics

Today matenda ozerezeka akhale pa siteji ya mimba. Otchedwa "chiyeso syndrome Down" chikuphatikizapo lonse osiyanasiyana maphunziro. njira yonse matenda asanabadwe imatchedwa kuti akalandire chithandizo ndi salembedwa m'magulu awiri:

• olanda - opaleshoni yokhudza nkhondo ya danga amniotic;
• si olanda - palibe malowedwe mu thupi.

Gulu loyamba la njira monga:

• Amniocentesis. Special singano mpanda kubala madzimadzi amniotic. Maselo ali mafuta chinaperekedwa ku phunziro majini pamaso pa kuvutika chromosomal. Theoretically, njira n'koopsa tsogolo la mwana wosabadwayo, motero mankhwala zonse.
• Mpanda ping'ono minofu (biopsy), ndi yoopsa chipolopolo chigawo (chorion). Akukhulupirira kuti zinthu chifukwa amapereka chifukwa wodalirika kwambiri ndi maphunziro chibadwa.
  

Gulu lachiwiri la njira monga kwambiri otetezeka Mwachitsanzo, ultrasound ndi maphunziro amuzolengedwa. syndrome pansi ndi wapezeka ndi ultrasound pa sabata la 12 la mimba. Childs, kuphunzira otere pamodzi MAGAZI. Ngati pali chiopsezo kuti mkazi ali ndi mwana pansi, amafunika kudutsa ingachititse lonse la kafukufuku.

Ndingatani kukuletsa?

Popewa maonekedwe a mwana amene ali ndi matenda Down kungakhale kokha mpaka chiyambi mimba mwa mayi majini ndi bambo a kafukufukuyu. mayesero Special adzakusonyezani mlingo pa choopsya matenda chromosomal mu wosabadwa m'tsogolo. Izi amaganizira zifukwa zambiri - m'badwo wa mayi, bambo, agogo, pamaso pa mabanja achibale magazi, matenda kubadwa Down a m'banja.

Kupeza mavuto mu mimba oyambirira, mkazi ali ndi ufulu wosankha zimene zinachitikira mwana wosabadwayo. Alikulamusa mwana amene ali ndi matenda Down a - kuipidwa kwambiri ndi nthawi yambiri ndondomeko. moyo wanga wonse mwana uyu kukhala ndi chisamaliro apamwamba. Koma sitiyenera kuiwala kuti ngakhale ana olumala ngati ingathandize mu sukulu ndi bwino moyo.

Kodi pali mankhwala?

Zikuoneka kuti ozerezeka sangakhoze anachiritsidwa, monga matenda chibadwa. Komabe, pali njira kuti tisaletse zizindikiro.

Ana ndi matenda Down ayenera kukhala tcheru. Pamodzi ndi chisamaliro apamwamba zachipatala, ayenera kuphunzitsidwa moyenerera. Iwo nthawi yaitali sangathe kuphunzira momwe kudzisamalira, kotero muyenera kuphunzitsa luso. Komanso, ayenera magawo zonse ndikuphunzitsidwa kulankhula ndi thupi. Pali mwapadera konzanso pulogalamu ana awa, kuwathandiza kukhala ndi atengere anthu.

Lamakono chitukuko sayansi monga tsinde chithandizo selo angalipirire ndi kwanthawi mu kukula kwa mwanayo. Therapy akhoza matenda kukula fupa, chitukuko ubongo, kukhazikitsa zakudya ziwalo, patsogolo chitetezo chokwanira. Mawu oyamba a maselo tsinde mu thupi la mwana ayamba nthawi yomweyo pambuyo pa kubadwa.

Pali zambiri za mphamvu ya yaitali chithandizo cha mankhwala ena. Iwo kusintha kagayidwe ndipo ndi zotsatira zabwino pa chitukuko cha mwana ndi matenda Down.

Pansi ndi Society

Ana ndi matenda Down zovuta kuti azolowere anthu. Koma nthawi yomweyo pamafunika kulankhulana. Ana zotsika ansangala kwambiri, osavuta kupitako pa kukhudzana, zabwino, ngakhale alili maganizo. Makhalidwe amenewa nthawi zambiri amatchedwa "mwana dzuwa."

Mu Russia, maganizo kwa ana ndi chromosomal chosayenerera, palibe amakondwera osiyana. The mwana lags kumbuyo kakulidwe, akhoza kukhala phunziro kunyozedwa ndi anzawo, amene ali ingafooketse kukula kwake maganizo.

Anthu amene ali ndi matenda Down kudzakhala kovuta kwambiri pa moyo wawo. Iwo osati kufika sukulu ya mkaka, ku sukulu. Iwo amavutika kupeza ntchito. Si zophweka kuyamba banja, koma ngakhale chikakusowani, pali mavuto ndi luso ndi ana. Amuna zotsika zipatso, ndi akazi pa chiopsezo kubadwa kwa ana odwala kuchuluka.

Komabe, anthu amene ali ndi matenda Down kungachititse moyo wathunthu. Iwo amatha kudziwa, ngakhale kuti ndondomeko izi ali pang'onopang'ono kwambiri. Pakati pa anthu awa pali zisudzo ambiri luso, zimene Theatre wa Simple unakhazikitsidwa mu 1999 mu Moscow.