Trisomy 21: kev tshuaj xyuas, cov cim qhia, kev kho mob, qhov tshwm sim

Trisomy 21 yog dab tsi?

Los rau hauv qeb ntawm "chromosomal abnormalities", trisomy yog ib zaj dab neeg ntawm chromosomes, nyob rau hauv lwm yam lus genetic khoom. Tseeb, nyob rau hauv ib tug neeg uas tsis muaj Down's syndrome, cov chromosomes mus ua khub. Muaj 23 khub ntawm chromosomes hauv tib neeg, lossis 46 chromosomes tag nrho. Peb hais txog trisomy thaum tsawg kawg yog ib qho ntawm cov khub tsis muaj ob, tab sis peb chromosomes. Qhov no chromosomal anomaly tuaj yeem tshwm sim thaum lub sij hawm faib cov cuab yeej cuab tam ntawm ob tus neeg koom tes, thaum lub sij hawm tsim gametes (oocyte thiab phev), ces thaum lub sij hawm fertilization.

Thaum trisomy tuaj yeem cuam tshuam rau ib khub ntawm chromosomes, qhov paub zoo tshaj plaws yog trisomy 21, uas cuam tshuam rau 21 khub ntawm chromosomes.

Feem ntau thiab siv tau trisomy, trisomy 21, kuj hu ua Mob ntsws qis, yog pom nyob rau nruab nrab ntawm 27 cev xeeb tub ntawm 10. Nws zaus nce nrog lub hnub nyoog ntawm leej niam. Nws tau kwv yees tias muaj nyob ib ncig ntawm 000 tus neeg uas muaj tus mob Down's syndrome hauv Fab Kis (kwv yees li 50 yug hauv ib xyoos hauv Fab Kis).

Nco ntsoov tias muaj peb pawg ntawm Down's Syndrome:

• dawb, ua kom tiav thiab homogeneous trisomy 21, uas sawv cev kwv yees li 95% ntawm cov neeg mob trisomy 21:

peb chromosomes 21 yog sib cais los ntawm ib leeg, qhov anomaly txhawj txog tag nrho cov chromosome 21 thiab tau pom nyob rau hauv tag nrho cov hlwb kuaj (tsawg kawg yog cov uas tau soj ntsuam nyob rau hauv lub laboratory);

• mosaic trisomy 21:

cov hlwb nrog 47 chromosomes (xws li 3 chromosomes 21) coexist nrog cov hlwb nrog 46 chromosomes, suav nrog 2 chromosomes 21. Qhov feem ntawm ob pawg ntawm cov hlwb txawv ntawm ib qho kev kawm, tab sis kuj los ntawm ib lub cev los yog lwm yam. ib daim ntaub mus rau lwm tus hauv tib tus neeg;

• trisomy 21 los ntawm translocation:

karyotype (uas yog, kev npaj ntawm tag nrho cov chromosomes) qhia peb chromosomes 21, tab sis tsis yog txhua pawg ua ke. Ib qho ntawm peb chromosomes 21 tuaj yeem piv txwv nrog ob chromosomes 14, lossis 12…

Ua rau thiab muaj feem cuam tshuam ntawm Down's syndrome

Trisomy 21 tshwm sim los ntawm kev faib tsis zoo ntawm chromosomes thaum lub sij hawm cell faib uas tshwm sim thaum lub sij hawm fertilization. Lub sijhawm no, tseem tsis tau paub meej tias yog vim li cas qhov no tshwm sim. Ntawm qhov tod tes, peb paub qhov tseem ceeb ntawm kev pheej hmoo: lub hnub nyoog ntawm leej niam yav tom ntej.

Tus poj niam laus dua, nws yuav yug me nyuam nrog trisomy, thiab lub fortiori nrog trisomy 21. Los ntawm 1/1 txog 500 xyoo, qhov tshwm sim no nce ntawm 20/1 mus rau 1 xyoo, ces 000/30 mus rau 1 xyoos, thiab txawm tias los ntawm 100/40 mus rau 1 xyoos.

Nco ntsoov tias ntxiv rau lub hnub nyoog niam txiv, muaj ob qho lwm yam uas pom tau tias muaj kev pheej hmoo ntawm kev muaj menyuam yaus nrog Down's syndrome, uas yog:

• lub xub ntiag ntawm chromosomal abnormality txuas mus rau chromosome 21 nyob rau hauv ib tug ntawm cov niam txiv (uas ces ua rau ib tug trisomy los ntawm translocation);
• twb yug tau ib tug me nyuam nrog Down's syndrome.

Cov tsos mob ntawm Down's syndrome yog dab tsi?

Ntxiv nrog rau cov yam ntxwv ntawm lub taub hau thiab lub ntsej muag (me me thiab puag ncig lub taub hau, me ntsis cim hauv paus ntawm lub qhov ntswg, qhov muag dav sib nrug, caj dab me thiab dav, thiab lwm yam), muaj Lwm yam cim qhia lub cev: strabismus, stocky ob txhais tes thiab ntiv tes luv luv, luv luv stature (tsis tshua muaj ntau tshaj li rau taw rau tus neeg laus), cov leeg tsis zoo (hypotonia), thiab qee zaum ntau los yog tsawg loj malformations, mob plawv, ocular, digestive, orthopedic.

Ib qho kev tsis taus ntawm kev txawj ntse ntawm qhov sib txawv ntawm qhov sib txawv, cuam tshuam rau kev muaj peev xwm abstraction, kuj tau pom. Nco ntsoov, txawm li cas los xij, tias qhov loj dua lossis tsawg dua qhov tseem ceeb ntawm kev txawj ntse tsis txaus tsis suav nrog qee qhov kev ywj pheej ntawm cov tib neeg cuam tshuam. Txhua yam tseem nyob ntawm kev txhawb nqa, kev kawm thiab kev saib xyuas ntawm txhua tus menyuam uas muaj tus mob Down.

Dab tsi yog qhov tshwm sim thiab teeb meem ntawm Down's syndrome?

Qhov tshwm sim ntawm Down's syndrome tsis muaj lwm yam tshaj li cov cim nws ua, pib nrog kev tsis taus ntawm kev txawj ntse.

Tab sis dhau ntawm cov tsos mob classic, trisomy 21 tuaj yeem ua rau cov kab mob ntawm ENT sphere, rhiab heev rau kev kis kab mob, muaj kev pheej hmoo ntawm kev lag ntseg ntau ntxiv vim muaj kab mob hauv pob ntseg, teeb meem pom (myopia, strabismus, cataracts thaum ntxov), qaug dab peg, kev sib koom ua ke deformities ( scoliosis. , kyphosis, hyperlordosis, luxable kneecaps, thiab lwm yam) txuas rau ligament hyperlaxity, digestive teeb meem, ntau zaus autoimmune kab mob, los yog ntau zaus cov qog nqaij hlav (me nyuam yaus leukemia, lymphoma nyob rau hauv cov neeg laus tshwj xeeb) ...

Kev tshuaj ntsuam: Kev kuaj Down's syndrome yuav mus li cas?

Tam sim no nyob rau Fabkis, qhov kev tshuaj ntsuam xyuas rau trisomy 21 yog muab rau cov poj niam cev xeeb tub. Nws muaj nyob rau hauv thawj qhov chaw ntawm kev kuaj ntshav ua ke nrog ultrasound, uas tshwm sim ntawm 11 thiab 13 lub lis piam ntawm amenorrhea, tab sis tseem muaj peev xwm mus txog 18 lub lis piam ntawm amenorrhea.

Kev soj ntsuam ntawm cov cim ntshav (cov protein) hauv cov ntshav niam, ua ke nrog kev ntsuas ultrasound (nuchal translucency tshwj xeeb) thiab thaum muaj hnub nyoog ntawm leej niam yav tom ntej, tso cai rau kev suav ntawm kev pheej hmoo ntawm kev yug menyuam nrog Down's syndrome.

Nco ntsoov tias qhov no yog qhov tshwm sim thiab tsis yog qhov tseeb. Yog tias qhov kev pheej hmoo siab dua 1/250, nws suav tias yog "siab".

Yog tias qhov kev pheej hmoo suav siab tshaj 1/250, muaj kev ntsuam xyuas ntxiv: kev tshuaj ntsuam xyuas ua ntej yug menyuam, lossis amniocentesis.

Trisomy 21: kev kho mob dab tsi?

Tam sim no, tsis muaj kev kho mob "kho" trisomy 21. Koj yog tus nqa ntawm chromosomal abnormality rau lub neej.

Txawm li cas los xij, txoj hauv kev ntawm kev tshawb fawb tau tshawb nrhiav, tshwj xeeb nrog lub hom phiaj, tsis yog tshem tawm cov chromosome ntau dhau, tab sis tshem tawm nws cov cawv. Tab sis txawm hais tias tus chromosome no yog qhov tsawg tshaj plaws ntawm cov no, nws muaj ntau dua 250 cov noob. Kev rho tawm tag nrho, lossis txawm tias ntsiag to, tuaj yeem muaj qhov cuam tshuam tsis zoo.

Lwm txoj hauv kev raws li kev tshawb fawb muaj nyob rau hauv kev tsom rau qee cov noob caj noob ces ntawm chromosome 21 ntau dhau, txhawm rau ua rau lawv. Cov no yog cov noob uas muaj kev sib txuas nrog kev kawm, kev nco lossis kev paub nyuaj hauv cov neeg uas muaj tus mob Down.

Trisomy 21: nws txoj kev tswj hwm

Yog li hais tias tus me nyuam nrog Down's syndrome nce mus txog ib theem ntawm kev ywj pheej ntawm cov neeg laus, thiab tsis raug kev txom nyem ntau dhau ntawm nws txoj kev noj qab haus huv, qhov kev soj ntsuam kev kho mob yog ntau tshaj li qhia.

Vim tias ntxiv rau qhov muaj peev xwm ua rau tsis zoo, trisomy 21 ua rau muaj kev pheej hmoo ntawm lwm yam pathologies xws li hypothyroidism, qaug dab peg lossis pw tsaug zog apnea syndrome. Yog li ntawd yuav tsum tau kuaj xyuas tag nrho thaum yug. coj Tshuag, tab sis kuj tsis tu ncua nyob rau hauv lub neej.

Hais txog kev txawj tsav tsheb, lus, kev sib txuas lus, kev txhawb nqa los ntawm ntau tus kws tshaj lij yog qhov tsim nyog los pab cov menyuam yaus uas muaj tus mob Down kom txhim kho lawv lub peev xwm mus txog qhov siab tshaj plaws. Yog li ntawd, psychomotor therapists, physiotherapists lossis hais lus therapists yog cov kws kho mob tshwj xeeb uas tus menyuam uas muaj tus mob Down's syndrome yuav tsum tau pom tsis tu ncua txhawm rau txhawm rau txhim kho.

Tshaj tawm thoob plaws lub tebchaws Fabkis thiab txawv teb chaws, CAMSPs, lossis cov chaw kho mob thaum ntxov, muaj peev xwm saib xyuas cov menyuam yaus uas muaj tus mob Down. Tag nrho cov kev cuam tshuam ua los ntawm CAMSPs yog them los ntawm Kev Pov Hwm Kev Noj Qab Haus Huv. Cov CAMSPs yog 80% tau txais nyiaj los ntawm Thawj Tswj Hwm Nyiaj Pov Hwm Kev Noj Qab Haus Huv, thiab 20% los ntawm Pawg Thawj Coj uas lawv nyob.

Koj yuav tsum tsis txhob yig hu rau ntau lub koom haum uas muaj nyob ib puag ncig Down's syndrome, vim tias lawv tuaj yeem xa cov niam txiv mus rau cov kws tshaj lij thiab cov qauv tsim tuaj yeem saib xyuas lawv tus menyuam.

Ntiaj Teb Down Syndrome Hnub

Txhua xyoo, Lub Peb Hlis 21 yog Hnub Ntiaj Teb Down's Syndrome. Hnub no tsis tau xaiv los ntawm lub sijhawm, txij li nws yog 21/21, lossis 03/3 hauv lus Askiv, uas hais txog qhov muaj peb chromosomes 21.

Lub koom haum thawj zaug hauv xyoo 2005, Hnub no yog lub hom phiaj los ua kom cov pej xeem sawv daws paub zoo txog cov kab mob no, uas tam sim no yog qhov tseem ceeb ntawm kev puas hlwb hauv cov neeg muaj kev txawj ntse. Lub tswv yim yog ob qho tib si los txhawb kev paub txog tus mob no kom muaj kev sib koom ua ke zoo dua ntawm cov neeg muaj tus kab mob mus rau hauv zej zog, thiab txuas ntxiv kev tshawb fawb los saib xyuas lawv zoo dua ntawm kev kho mob thiab kev kawm.

Cov thom khwm tsis sib haum los txhawb kev paub txog Down's syndrome

Pib los ntawm 2015 los ntawm lub koom haum "Down Syndrome International" (DSI) thiab relayed los ntawm Trisomy 21 Fabkis, lub # socksbatlle4Ds (Socks sib ntaus sib tua rau Down Syndrom) muaj xws li hnav thom khwm mismatched rau ntiaj teb Down Syndrome Hnub, lub Peb Hlis 21st. Lub hom phiaj: txhawm rau txhawb kev sib txawv thiab sib txawv, tab sis kuj tseem ua kom paub lub neej ntawm cov neeg uas muaj Down's syndrome thiab cov koom haum uas ua haujlwm txhawb nqa lawv.