Zaub txhwb qaib syndrome - tus kab mob no yog yeej ib txwm "zoo siab" tus neeg

Zaub txhwb qaib Syndrome, lub npe hu nyob rau hauv scientific voj voog Angelman syndrome, ib tug Neuro-caj pathology uas yog yus muaj los ntawm ncua kev loj hlob ntawm kev txawj ntse thiab lub cev tsis ntawm tus neeg, nyob rau hauv kev ua txhaum ntawm cov pw tsaug zog hom thiab wakefulness, qaug dab peg, cia li thiab erratic taw ntawm lub nqua. Nrog rau cov tib neeg lub ntsej muag tsis txhob cia ib tug luag ntxhi, nws yeej ib txwm luag rau tsis muaj yog vim li cas, thiab zoo nkaus li infinitely zoo siab. Caj Npab taw yog zoo li zoo siab xyiv fab, npuag tes. Zaub txhwb qaib Syndrome kuj hu ua Syndrome zoo siab puppets, raws li cov neeg mob muaj ib yam ntawm cov menyuam roj hmab, nrog ib tug tsis tu ncua luag rau ntawm nws lub ntsej muag thiab me me heev laim ob txhais tes, bent ntawm lub luj tshib - ib tug plaub hau lub breadth raws li ib tug puppet puppet, cov hlua uas yog ua los ntawm ib tug puppeteer.

Rau cov thawj lub sij hawm no kev tshuaj ntsuam genetic pathology yog piav nyob rau hauv 1965 los ntawm Dr. Harry Angelmanom cov menyuam yaus, uas saib peb cov me nyuam xiam oob qhab cuam tshuam los ntawm tus kab mob no. Nws yog thawj lub sij hawm nws thiab nws cov neeg mob hu ua "puppet cov me nyuam." Lub tom qab mention ntawm tus kab mob nyob rau hauv lub US nyob rau hauv thaum ntxov 80s. Zaub txhwb qaib Syndrome - ib tug ncaj ntau tus kab mob. Tus zaus ntawm nws tshwm sim nyob rau hauv lub tej ntaub ntawv ntawm Washington University (TEB CHAWS USA) yog 1: 20,000 cov me nyuam mos.

Txhob kaw Angelman syndrome yog tshwm sim los ntawm ib tug tsis muaj ob peb noob los ntawm chromosome 15. Nyob rau hauv tej rooj plaub, ib nrab deletion, piv txwv li tsis tau kev noob cheeb tsam, los yog hloov ntawm lub 15th Somatic chromosome. Feem ntau muaj feem xyuam rau cov niam chromosome, uas yog dhau los ntawm leej niam mus rau fetus. Tab sis nws kuj yuav puas los ntawm nws tus txiv, nyob rau hauv uas cov ntaub ntawv tus kab mob no yog hu ua Prader-Willi syndrome. Lub karyotype ntawm tus tib neeg schematically denoted li XX los yog 46 XY, 15r-. Txawj chromosomal defect yog tsiag ntawv los ntawm kev qhaj ntawv ntawm ib tug loj contiguous cheeb tsam ntawm ib tug loj tus naj npawb (mus txog 3-4 lab) officers ntawm DNA bases nyob rau hauv lub cheeb tsam q11-q13 feem 15 th chromosome. Independent kev tshawb fawb qhia qhov ua rau ntawm cov mutational hloov tshwm sim los ntawm mutational hloov nyob rau hauv UBE3A noob. Cov khoom ntawm no noob yog cov enzyme tivthaiv ntawm ib tug complex system ntawm cov nqaijrog degradation. Zaub txhwb qaib yuav tshawb nrhiav qhov syndrome los ntawm caj tsom xam.

Cov me nyuam txom nyem los ntawm Angelman kab mob nyob rau hauv thaum yau muaj teeb meem nrog cov zaub mov, tshwj xeeb tshaj yog nyob rau hauv thaum ntxov kiag, lawv tsis tau ceeb thawj. Ib me ntsis tom qab, koj yuav pom ib tug ncua nyob rau hauv lub cev muaj zog txoj kev loj hlob ntawm tus me nyuam general txawj, uas yog heev lig mus pib zaum thiab taug kev. Muaj yog ib tug phem, cov neeg pluag hais lus. Cov me nyuam no yog cov ntau ntau paub tshaj lawv yuav tham los yog qhia nyob rau hauv lus.

Thaum lub tsev kawm ntawv uas muaj hnub nyoog, muaj loj teeb meem nrog txoj kev kawm ntawm cov neeg uas muaj mob Zaub txhwb qaib syndrome, cov hais mav yuav nyeem tau nrog zoo nyuaj. Lawv yog cov tsis tshua inattentive thiab thajmaum. Qaug dab peg thiab txawv txawv taw, nyob rau hauv particular, zoo co, thiab chaotic taw ntawm nqua, nquag tis rau cov tsis muaj yog vim li cas qhov txawv cov me nyuam. Cov neeg mob cai ib tug yam ntxwv moj yam - stiffly. Nws yog vim hais tias ntawm no feature, lawv hu ua puppets. lawv kuj muaj ib tug me me lub taub hau nrog rau ib tug me ntsis flattened rov qab ntawm lub taub hau, dav lub qhov ncauj, mas puab tsaig, loj khoob ntawm cov hniav thiab cov protruding tus nplaig. Nyob rau hauv tas li ntawd, ib nrab ntawm cov neeg mob tau strabismus, yog qhov khoov pob thiab rhiab heev rau tsa kub.

Zaub txhwb qaib Syndrome tam sim no muaj tsis muaj ib yam kev kho mob, tab sis los txhim kho qhov zoo ntawm lub neej ntawm cov neeg mob yog tau nrog kev pab los ntawm ob peb lub tshuaj ntsuas. Cov me nyuam mos ua massage, siv physiotherapy. Thaum preschool uas muaj hnub nyoog cov me nyuam muab kev koom tes hais lus therapists thiab hais lus pathologists. Yuav kom normalize cov pw tsaug zog nws muab tsaug zog ib qho yooj yim. Epileptic qaug dab peg yuav kho nrog anticonvulsants. Feem ntau, cov me nyuam yog qhia cov lus piav.

Zaub txhwb qaib syndrome muaj feem ntau yuav muaj kev cuam tshuam cov tub hluas, tab sis cov ntxhais no kuj raug tau tus kab mob no. Nyob rau hauv kev kho mob xyaum, cov ntaub ntawv ntawm cev xeeb tub ntawm ib tug poj niam nrog ib tug zoo siab puppet syndrome, uas yug tau ib tug hluas nkauj, ib yam nkaus thiab, "zoo siab." Tsuas yog tus nqi ntawm xws zoo siab nyob rau hauv tib neeg cov neeg mob yog incredibly siab ...