Angelman syndrome

Angelman syndrome yog ib tug kev tshuaj ntsuam genetic anomaly (chromosomal hloov), tau nyob rau hauv qhov kev ncua nyob rau hauv kev puas hlwb txoj kev loj hlob, vim insufficiently tsim pa system, uas muaj neurobiological system. Yog li ntawd, ib tug neeg muaj heev tis, erratic tes taw, qaug dab peg, pw tsaug zog ntxhov. Tus kab mob no yog incurable, tab sis txoj kev txhim kho yog tau xwb nyob rau hauv cov kev tshwm sim hais tias siav qhov yooj yim tib neeg xav tau kev pa.

Tus kab mob tshwm raws li ib tug tshwm sim ntawm txawj chromosome kho raws, vim muaj ib tug hloov nyob rau hauv lub noob, muaj ib co degradation ntawm lub enzyme protein.

Rau hnub tim, Angelman syndrome tshwm sim nyob rau hauv ib tug ntawm nees nkaum txhiab cov me nyuam mos. Nws yog yus muaj los ntawm:

1. Teeb meem nrog kev pub niam mis, vim hais tias tus txheej txheem no yuav tsum tau ib tug zoo haum ntawm kev ua pa, nyob rau hauv kev txiav txim kom tsis txhob muaj aspiration. Yog li ntawd, cov me nyuam tsis txaus tau ceeb thawj.

2. Qhov kev ncua nyob rau hauv txoj kev loj hlob ntawm lub tuam motor kev txawj ntse, kev hais lus, xim. Muaj yog ib tug muaj teeb meem nyob rau hauv lawv txoj kev kawm.

3. Nyob rau hauv 80% ntawm cov neeg mob qaug dab peg. Muaj tshee, thiab uncoordinated zog ntawm nqua, convulsions tshwm sim, uas yuav ua tau nyob rau hauv tag nrho cov nqaij ntshiv ntawm lub cev, los yog raws li ib tug patchy tsis nco qab.

4. Luag thiab luag ntxhi rau tus tsis txhaum.

5. Kev ua txhaum nyob rau hauv lub zuag qhia tag nrho kev loj hlob - tsis ncaj ncees lawm luaj li cas ntawm lub taub hau thiab ntsej muag nta, squint, curvature ntawm cov nqaj qaum.

Angelman syndrome thiaj paub tias yog los ntawm genetic tsom xam ntawm lub 15th chromosome. Nws yog siv thaum muaj yog tsis leeg laus nyob rau hauv cov me nyuam mos, ncua nyob rau hauv hais lus txoj kev loj hlob thiab lub cev muaj zog cov kev txawj, raws li zoo raws li lub siab zoo co, lus povtseg taw, nquag tis los yog taug kev nyob rau hauv lub ob txhais ceg unfolded. Tsis tas li ntawd pab tau DNA methylation, hloov tsom xam thiab chaw imprintingvogo UBE3A noob.

Rau hnub tim, kev kho mob ntawm tus kab mob no tsis tau raug tsim. Tab sis muaj ib tug xov tooj ntawm cov kev ua ub aimed ntawm txoj kev loj hlob ntawm cov me nyuam uas muaj hlwb ruamqauj, raws li zoo raws li kev txhim kho cov muaj lub neej zoo.

Piv txwv li, cov chav kawm nrog defectology thiab hais lus txoj kev kho, lub cev txoj kev kho yog siv nyob rau hauv cov ntaub ntawv ntawm nqaij hypotonia, thiab hypnotics kws kho rau cov pw tsaug zog ntshawv siab. Nyob rau hauv tawm tsam siv kho cov neeg ua hauj yog tib yam li nyob rau hauv qaug dabpeg (anticonvulsants). Rau ntawm kev tswj lub cev tau hauj lwm ntawm cov hnyuv yog siv cov tshuaj ntaus cev.

Txais mus nrog cov me nyuam los ntawm ib tug thaum ntxov muaj hnub nyoog, kev siv tshwj xeeb cov kev pab cuam uas hais txog txoj kev loj hlob ntawm lub cev muaj zog cov kev txawj, muaj peev xwm ua tau zoo tau.

Zeem muag rau txoj kev loj hlob ntawm cov neeg uas muaj lub syndrome nyob ntawm yuav ua li cas impressed thib kaum tsib chromosome. Ib txhia kawm nws thiab cov txuj ci ntawm tus kheej-kev pab cuam ntawm ib lub uas tsis muaj qib, lwm tus neeg yuav tsis muaj peev xwm mus tham thiab taug kev.

Yog li, rau cov me nyuam uas muaj Angelman syndrome, yus muaj los ntawm ib co nta ntawm tus cwj pwm: impulsivity, autostimulyatsiya, teeb meem nyob rau hauv sib txuas lus nrog cov neeg. Thiab txawm hais tias feem ntau ntawm lawv tej zaum yuav tsis tuaj kiag li, lawv tag nrho cov feem ntau tus phooj ywg, zoo, lawv nyiam ua si, ces nws yog advisable mus qhia lawv cov lus piav, thiaj li hais tias lawv twb tau mus sib txuas lus nrog cov neeg.

Xws li ib tug kev loj hlob tsis meej yuav tsum tau tshwj xeeb kev cob qhia los ntawm lub earliest theem, raws li nrog lub hnub nyoog cov teeb meem no xwb loj hlob. Cov cwj pwm ntawm cov neeg yog tseem coj txawv txawv, lawv yuav qhia xwb los gestures thiab suab yuav ua tau txhoj puab heev nyob rau hauv cov ntaub ntawv ntawm kev tsis to taub. Cov tsev neeg uas muaj cov me nyuam nrog Angelman syndrome feem ntau txom nyem los ntawm ib tug tsis muaj kev sib txuas lus, tab sis nws yuav tsum tau nco ntsoov hais tias uas tus neeg mob yuav tsum puag ncig lub ntuj kaaj quas lug muaj pluaj siab zoo thiab muab lawv nrog tsim nyog kho mob thiab kev kho mob, thiab ces peb yuav ua tau zoo tau.