Child cia - dab tsi nws txhais li cas? Tej yam tshwm sim thiab cov tsos mob ntawm Down syndrome

Lo lus "down" nyob rau hauv hnub no lub koom txoos yog ntau feem ntau siv raws li ib qho kev thuam. Nyob rau hauv no hais txog, muaj ntau yam uas leej niam nrog bated ua tsis taus pa tos rau qhov kev tshwm sim ntawm ultrasound, rau qhov lawv ntshai puas tabkaum cov tsos mob. Tom qab tag nrho, tus me nyuam cia nyob rau hauv lub tsev neeg - nws yog ib qho teb cog txiv uas yuav tsum tau lub cev thiab lub hlwb kev nyuaj siab. Yog li ntawd yog dab tsi Down syndrome? Yuav ua li cas yog cov cim thiab cov tsos mob?

Yuav ua li cas yog Down syndrome?

Down syndrome - qhov no genetic abnormality, congenital chromosomal abnormality. Nws yog nrog los ntawm ib tug tsis ntawm tej kev kho mob ntsuas thiab muaj kev cuam tshuam ntawm tej lub cev txoj kev loj hlob. Nws yog ib qho tseem ceeb yuav tau nco ntsoov hais tias lo lus "tus kab mob" yog tsis muaj feem xyuam, txij li thaum peb tham txog ib tug txheej ntawm cov yam ntxwv thiab tej nta, xws li ntawm lub syndrome.

Lub earliest mention ntawm lub syndrome liam tshwm sim 1500 xyoo dhau los. Qhov no yog lub hnub nyoog ntaus nqi mus rau qhov seem ntawm ib tug me nyuam nrog cov tsos mob ntawm Down syndrome, pom nyob rau hauv lub necropolis ntawm Fabkis nroog ntawm Chalon-sur-Saône. Burial yog tsis sib txawv ntawm lub niaj zaus, los ntawm uas ib tug yuav xaus hais tias cov neeg zoo li no tsis taus yog tsis raug rau pej xeem siab.

Rau cov thawj lub sij hawm Down syndrome twb piav nyob rau hauv 1866 los ntawm cov British tus kws kho mob John Langdon Down. Ces tus paub txog hu no phenomenon "mongolism." Tom qab ib co sij hawm, lub pathology lub npe hu ua tom qab lub discoverer.

Yuav ua li cas yog qhov ua rau?

Hais txog yog vim li cas rau cov uas muaj cov me nyuam nrog Down syndrome, nws los ua paub xwb nyob rau hauv 1959. Ces caj conditionality ntawm tus kab mob no tau muaj pov thawj los ntawm qhov Fabkis tus paub txog Gerard Lejeune.

Nws muab tawm hais tias lub yeej muaj tseeb ua kom muaj tus syndrome - lub rov tshwm sim ntawm ib tug ntxiv khub ntawm chromosomes. Nws yog tsim nyob rau nyob rau theem ntawm fertilization. Feem ntau, ib tug neeg noj qab nyob rau hauv txhua lub cell yog 46 officers ntawm chromosomes nyob rau hauv lub kab hlwb (qe thiab cov phev thiab) muaj raws nraim ib nrab - 23. Tab sis thaum lub sij hawm ntawm fertilization ntawm lub qe thiab cov phev fuse, lawv cov caj khoom siv ua ke kom tsim tau ib cov tshiab ntawm tes - ib tug zygote.

Tsis ntev, qhov zygote pib faib. Thaum lub sij hawm tus txheej txheem no, muaj los ib lub sij hawm thaum lub xov tooj ntawm chromosomes nyob rau hauv lub cell yog npaj txhij rau faib ob npaug. Tab sis lawv tam sim ntawd disperse rau opposite ncej ntawm lub cell, ces nws yog muab faib nyob rau hauv ib nrab. Qhov no yog qhov chaw uas qhov yuam kev no tshwm sim. Thaum qhov yuav muaj tseeb 21th khub ntawm chromosomes, nws muaj peev xwm "lob" nrog ib leeg. Zygote tseem pheej yuav qhia tsim embryo. Yog li ntawd, yog cov me nyuam nrog Down syndrome.

ntaub ntawv ntawm qhov syndrome

Muaj peb cov ntaub ntawv ntawm Down syndrome, nyob ntawm seb cov yam ntxwv ntawm cov kev tshuaj ntsuam genetic mechanisms ntawm lawv tshwm sim:

• Trisomy. Qhov no yog ib tug classic cov ntaub ntawv ntawm nws tshwm sim - 94%. Nws tshwm sim thaum uas muaj ib tug ntxaug ntawm ib tug divergence 21 officers ntawm chromosomes thaum lub sij hawm faib.
• Translocation. Qhov no zoo ntawm Down syndrome yog tsis tshua muaj heev, tsuas yog 5% ntawm cov neeg. Yog li muaj ib tug hloov lwm lub tsev ntawm ib feem ntawm lub chromosome tag nrho noob los yog mus rau lwm qhov chaw. Caj ntaub ntawv uas yuav "dhia" los ntawm ib tug chromosome mus rau lwm lub los yog nyob rau hauv tib chromosome. Cov tsos ntawm no syndrome plays ib tug decisive luag hauj lwm tshuaj ntsuam genetic txiv cov ntaub ntawv uas.
• Mosaicism. Qhov tseem tsis tshua tshwm sim hauv daim ntawv ntawm cov syndrome, yog pom xwb nyob rau hauv 1-2% ntawm cov neeg. Nrog xws li ib tug ua txhaum ntawm lub cev cell muaj ib tug ib txwm txheej chromosomes - 46, thiab lwm tus ib feem - nce, piv txwv li, 47. Cov me nyuam uas muaj mosaic Down syndrome tej zaum yuav sib txawv me ntsis los ntawm lawv cov phooj ywg, tab sis ib tug me ntsis qab nyob rau hauv kev puas hlwb kev loj hlob. Feem ntau, xws li ib tug mob yog ib qhov nyuaj rau paub meej tias.

Lub manifestation ntawm cov syndrome

Hais tias ib tug me nyuam muaj tus Down syndrome yog yooj yim pom tau hais tias tam sim ntawd tom qab yug tus me nyuam. Nws yog tsim nyog them sai sai mus rau nram qab no nta:

• lub taub hau ntawm loj me me, lub tiaj nraum qab ntawm lub taub hau;
• ca lub ntsej muag, flattened lub qhov ntswg choj;
• me me puab tsaig, qhov ncauj, pob ntseg;
• qhov muag nrog cov yam ntxwv quav thiab ib tug oblique txoj kab txiav;
• feem ntau qhib nws lub qhov ncauj;
• luv luv nqua, ntiv tes, lub caj dab;
• tsis muaj zog nqaij laus;
• palm sab nrog ib tug transverse daim tawv nqaij (liab) quav.

Feem ntau cov feem ntau, cov me nyuam mos nrog Down syndrome yog paub los ntawm cov cim qhia. Lawv yuav txiav txim tsis tau tsuas yog tus kws khomob tshwjxeeb, tab sis kuj zoo tib yam neeg. Ces, tus mob yog paub tseeb hais tias los ntawm ib tug neeg tshuaj xyuas thiab ib tug xov tooj ntawm analyses.

Yuav ua li cas txaus ntshai syndrome?

Yog hais tias lub tsev neeg tau yug los, koj yuav tau kho nws cov rooj kho mob. Feem ntau cov me nyuam, nyob rau hauv tas li ntawd mus rau sab nraud tej yam tshwm sim, tsim ib tug kab mob loj:

• impaired kev tiv thaiv;
• congenital plawv tus kab mob ;
• txawv txav kev loj hlob ntawm lub hauv siab.

Vim li no, tus me nyuam cia ntau raug rau thaum yau mob, kev txom nyem los ntawm pulmonary kab mob. Nyob rau hauv tas li ntawd, nws kev loj hlob yog txuam nrog kev puas hlwb thiab lub cev txoj kev loj hlob. Qeeb tsim ntawm lub digestive system yuav entail ib tug txo nyob rau hauv enzyme ua si, thiab muaj teeb meem nyob rau hauv digestion. Feem ntau cov me nyuam nyob rau hauv kev xav tau ntawm ib tug tham lub plawv phais. Nyob rau hauv tas li ntawd, nws muaj peev xwm tsim kawg ntawm lwm yam kabmob.

Tej zaum, kom tsis txhob tsis kaj siab txim ntawm cov kev ua noj nyob rau hauv lub sij hawm los pab. Yog li ntawd, nws yog ib qhov tseem ceeb heev rau daim ntawv ntsuam xyuas nyob rau theem ntawm pre-Natal txoj kev loj hlob ntawm tus me nyuam.

rau tej pab

Nyob rau nruab nrab, cov xwm txheej ntawm Down syndrome - 1: 600 (1 tus me nyuam nyob rau hauv 600). Txawm li cas los, cov nuj nqis tej zaum yuav txawv nyob ntawm seb ntawm ntau yam. Cov me nyuam downs yog feem ntau yug los rau cov poj niam tshaj 35 xyoo. Cov laus tus poj niam, tus loj dua cov uas muaj feem yuav muaj ib tug me nyuam muaj kev tsis taus. Yog li ntawd, cov niam ntawm 35 xyoo yog ib qho tseem ceeb rau noj tag nrho cov tsim nyog kho mob kuaj ntawm ntau theem ntawm cev xeeb tub.

Txawm li cas los, cov me nyuam yug ntawm cov me nyuam nrog Down syndrome tshwm sim nyob rau hauv leej niam mus txog 25 xyoo. Nws pom hais tias yog vim li cas rau qhov no tej zaum kuj yuav muaj tus txiv lub hnub nyoog, muaj cov zoo hais txog kev sib yuav thiab, oddly txaus, lub hnub nyoog ntawm cov pog.

diagnostics

Niaj hnub no kev tshawb nrhiav Down syndrome tej zaum yuav nyob rau theem ntawm cev xeeb tub. Lub thiaj li hu ua "kev xeem rau Down syndrome" xws li muaj ib tug tag nrho ntau yam ntawm cov kev tshawb fawb. Tag nrho txoj kev mob ua ntej yug tus me nyuam yog hu ua prenatal thiab conditionally muab faib ua ob pawg:

• tus - phais uas muaj qhov ntxeem tau ntawm lub amniotic qhov chaw;
• uas tsis yog-tus - tsis muaj allergic rau hauv lub cev.

Cov thawj pab pawg neeg ntawm txoj kev muaj xws li:

• Amniocentesis. Tshwj xeeb koob laj kab tsim amniotic kua. Lub hlwb muaj nyob rau hauv no kua twb raug mus rau kev tshuaj ntsuam genetic txoj kev tshawb no rau lub xub ntiag ntawm chromosomal txawv txav. Raws, txoj kev yuav ua tau txaus ntshai rau lub neej yav tom ntej ntawm lub fetus, li ntawd nws tsis muab txhua yam.
• Laj kab me me ntawm cov ntaub so ntswg (me), cov me nyuam hauv plab plhaub tivthaiv (chorion). Nws yog ntseeg hais tias lub resulting cov ntaub ntawv uas muab ib tug ntau txhim khu kev qha tshwm sim nrog tshuaj ntsuam genetic kev tshawb fawb.
  

Qhov thib ob pab pawg neeg ntawm txoj kev muaj xws li ib tug ntau ruaj ntseg, piv txwv li, ultrasound thiab biochemical kev tshawb fawb. Down syndrome yog kuaj tau los ntawm ultrasound ntawm lub 12 lub lim tiam ntawm cev xeeb tub. Feem ntau, xws li ib tug kev tshawb no yog ua ke nrog kev kuaj ntshav. Yog hais tias muaj yog ib tug uas yuav hais tias ib tug poj niam muaj ib tug me nyuam, nws yuav tsum tau mus los ntawm ib tug tag nrho pawg ntawm cov ntawv tshawb fawb.

Kuv tiv thaiv nws?

Tiv thaiv kom txhob cov tsos ntawm ib tug me nyuam nrog Down syndrome yuav ua tau tsuas mus txog rau lub pib ntawm conception los ntawm cov kev tshuaj ntsuam genetic niam thiab leej txiv ntawm cov daim ntawv ntsuam xyuas. Tshwj xeeb ntsuam xyuas yuav qhia cov neeg kawm ntawv ntawm kev pheej hmoo ntawm chromosomal kab mob nyob rau hauv lub neej yav tom ntej fetus. Qhov no yuav siv sij hawm mus rau hauv tus account ntau yam - lub hnub nyoog ntawm cov leej niam, leej txiv, pog, lub xub ntiag ntawm cov ntshav cov txheeb ze sib yuav, kev yug me nyuam tus Down syndrome nyob rau hauv lub tsev neeg.

Qhia cov teeb meem nyob rau hauv thaum ntxov cev xeeb tub, cov poj niam yog dawb los txiav txim txog txoj hmoo ntawm lub fetus. Raising ib tug me nyuam nrog tus Down syndrome - ib tug heev thiab lub sij hawm-siv txheej txheem. Tag nrho kuv lub neej no tus me nyuam yuav xav tau ib tug high-zoo kho mob. Tiam sis peb yuav tsum tsis txhob hnov qab tias txawm cov me nyuam nrog rau tej kev tsis taus tau siab nyob rau hauv tsev kawm ntawv thiab kawm tau ntawv zoo nyob rau hauv lub neej.

Yog muaj ib tug kho mob?

Nws yog xav hais tias Down syndrome yuav kho tsis zoo, raws li nws yog ib tug kev tshuaj ntsuam genetic tus kab mob. Txawm li cas los, muaj ntau txoj kev los tejzaum nws cov tsos mob.

Cov me nyuam nrog Down syndrome yuav tsum tau attentive. Nrog rau high-zoo kev kho mob, lawv yuav tsum kom txoj kev kawm. Lawv yog ib tug ntev lub sij hawm tsis paub yuav ua li cas saib xyuas ntawm lawv tus kheej, li ntawd, koj yuav tsum inculcate cov kev txawj ntse. Nyob rau hauv tas li ntawd, lawv yuav tsum tsis tu ncua zaug nrog ib tug hais lus therapist thiab physiotherapist. Muaj qhia tshwj xeeb uas tsim kev ncaj ncees pab cuam rau cov me nyuam, pab lawv tsim thiab hloov mus rau lub koom txoos.

Qhov no niaj hnub scientific kev loj hlob raws li lub qia cell kev kho mob muaj peev xwm pab kom txawm peem rau cov lag nyob rau hauv lub cev txoj kev loj hlob ntawm tus me nyuam. Therapy yuav normalize cov pob txha loj hlob, lub hlwb txoj kev loj hlob, tsim kom muaj kev noj haus hauv nruab nrog cev, txhim khu kev tiv thaiv. Cov kev taw qhia ntawm qia hlwb nyob rau hauv lub cev ntawm tus me nyuam pib tam sim ntawd tom qab yug tus me nyuam.

Muaj cov lus qhia txog cov hauj lwm zoo ntawm ntev-lub sij hawm kev kho mob ntawm tej yam tshuaj. Lawv txhim kho metabolism thiab muaj ib tug zoo ntxim rau cov kev loj hlob ntawm ib tug me nyuam nrog Down syndrome.

Down thiab Society

Cov me nyuam nrog Down syndrome yog heev yooj yim kom pab tau rau lub koom txoos. Tab sis nyob rau tib lub sij hawm nws yog ib qho tseem ceeb sib txuas lus. Cov me nyuam downs yog heev tus phooj ywg, ib qho yooj yim mus rau kev sib cuag, zoo, dua li cov mus ob peb vas swings. Rau cov qualities lawv yog feem ntau hu ua "hnub ci tus me nyuam."

Nyob rau hauv Russia, tus cwj pwm ntawm cov me nyuam nrog chromosomal abnormality, tsis txawv muaj pluaj siab zoo. Tus me nyuam lags qab nyob rau hauv txoj kev loj hlob, yuav ua rau qhov kev kawm ntawm ridicule nyob nrog lawv tej phooj ywg, uas muaj ib tug nyhuv dejnum rau nws puas siab puas ntsws txoj kev loj hlob.

Cov neeg uas muaj Down syndrome yuav muaj teeb meem thoob plaws hauv lawv lub neej. Lawv tsis cia li tau txais nws mus kawm kindergarten, mus kawm ntawv. Lawv muaj teeb meem nyob rau hauv kev nrhiav ua hauj lwm. Nws yog tsis yooj yim pib ib tsev neeg, tab sis txawm yog hais tias nws tsis, muaj teeb meem nrog rau cov muaj peev xwm muaj cov me nyuam. Txiv neej downs fruitless, thiab nyob rau hauv cov poj niam uas muaj feem yug me nyuam ntawm muaj mob offspring.

Txawm li cas los, cov neeg uas muaj Down syndrome yuav ua ib tug tag nrho lub neej. Lawv yog cov tau kawm, txawm lub fact tias tus txheej txheem no yog lawv muaj ntau qeeb qeeb. Cov no cov neeg muaj ntau ntau yam ntse lam, rau cov uas ua yeeb yam ntawm yooj yim yog tsim los pab nyob rau hauv 1999 nyob rau hauv Moscow.