Koj tus me nyuam puas nyiam sib raug zoo? Nws puas yog ib tug neeg uas muaj kev hlub thiab luag ntxhi thiab tham nrog txhua tus neeg uas nws pom? Tib lub sijhawm, puas muaj qee zaum muaj kev loj hlob qeeb lossis kev kawm nyuaj? Qee zaum, tom qab cov yam ntxwv zoo li no, tej zaum yuav muaj ib qho mob caj ces tsis tshua muaj hu ua Williams Syndrome. Tsis txhob ntshai thaum koj hnov lub npe no. Qhov no yog ib yam dab tsi uas peb yuav tsum tham txog thiab nkag siab. Hnub no, peb yuav tham txog txhua yam hauv txoj kev yooj yim uas koj tuaj yeem nkag siab.
Hauv lwm lo lus, Williams Syndrome yog dab tsi?
Williams syndrome, qee zaum hu ua Williams-Beuren syndrome, yog ib yam mob caj ces tsis tshua muaj uas muaj thaum yug los. Nws cuam tshuam rau kev loj hlob ntawm lub paj hlwb. Cov menyuam yaus uas muaj tus mob no yuav muaj qhov tsos tshwj xeeb, kev loj hlob qeeb, kev kawm tsis tau zoo, thiab kev ua haujlwm tsis zoo ntawm lub plawv.
Xav txog tias peb lub cev muaj ib phau ntawv qhia loj. Phau ntawv qhia no muaj cov noob caj noob ces. Cov noob caj noob ces no nyob hauv cov chromosomes. Peb muaj 23 khub chromosomes, uas yog tag nrho 46. Ib tug neeg uas muaj Williams syndrome muaj ib daim me me uas ploj ntawm chromosome 7. Nws zoo li ib nplooj ntawv ploj hauv phau ntawv qhia ntawd. Vim yog nplooj ntawv ploj no, qee qhov kev ua haujlwm thiab kev loj hlob ntawm lub cev tshwm sim txawv. Qhov ntawd yog qhov peb hu ua Williams syndrome.
Qhov tseem ceeb yog, qhov no tsis yog ib yam dab tsi uas feem ntau tau txais los ntawm niam txiv mus rau cov menyuam. Qhov no yog kev hloov pauv tsis tau npaj tseg hauv cov noob caj noob ces. Yog li ntawd, tsis txhob liam koj tus kheej rau qhov no.
Qhov xwm txheej no yuav muaj dab tsi cuam tshuam rau tus menyuam?
Tsis yog txhua tus menyuam uas muaj tus mob no zoo ib yam. Cov tsos mob yuav txawv ntawm ib tus neeg mus rau ib tus neeg. Tab sis muaj qee cov tsos mob uas pom ntau. Cia peb piav qhia txog cov no.
Cov yam ntxwv ntawm lub cev thiab qhov tsos
Cov menyuam no muaj peev xwm muaj tus cwj pwm ntxim hlub heev thiab tshwj xeeb.
| Yam ntxwv | Kev piav qhia |
|---|---|
| Lub ntsej muag | Puab puab puv, qhov ncauj dav, daim di ncauj pom tseeb, lub qhov ntswg me me, lub puab tsaig me. |
| Qhov muag | Koj tuaj yeem pom ib daim tawv nqaij quav (epicanthal folds) ntawm lub ces kaum sab hauv ntawm lub qhov muag. |
| Cov hniav | Cov hniav me, qhov sib nrug ntawm cov hniav, cov hniav ploj lawm, lossis cov enamel tsis muaj zog. |
| Qhov siab | Muaj coob tus neeg siab luv dua li qhov nruab nrab. Kev loj hlob qeeb thaum yau. |
Kev loj hlob thiab tus cwj pwm
Cov menyuam no siv sijhawm ntev me ntsis kom ncav cuag qee qhov kev loj hlob, tab sis lawv kuj muaj peev xwm tshwj xeeb.
- Kev Hais Lus: Lawv yuav pib hais lus lig me ntsis, tab sis thaum lawv hais tau lawm, lawv muaj peev xwm hais lus zoo heev . Lawv hais lus zoo nkauj thiab piav qhia tau zoo heev.
- Kev Txav Mus Los: Vim yog cov leeg nqaij tsis muaj zog (hypotonia), nws siv sijhawm ntev dua li lwm tus menyuam yaus los kawm tej yam xws li zaum thiab taug kev.
- Kev Kawm: Lawv yuav muaj teeb meem kawm cov lej, cov tsiaj ntawv, thiab nkag siab qhov chaw (sab saud, sab hauv qab, ze, deb). Tab sis lawv muaj lub cim xeeb zoo heev .
- Kev Sib Raug Zoo: Qhov no yog tus cwj pwm tseem ceeb tshaj plaws ntawm cov menyuam no. Lawv yog cov neeg zoo, muaj kev hlub, thiab muaj kev khuv leej. Lawv pom tias nws nyuaj rau paub cov neeg txawv teb chaws, yog li ntawd lawv thiaj li ua phooj ywg nrog leej twg sai sai. Qee zaum lawv yuav ntxhov siab lossis ntshai qee yam (phobias).
Lwm yam teeb meem kev noj qab haus huv
Qhov mob no kuj tseem tuaj yeem ua rau muaj lwm yam teeb meem kev noj qab haus huv. Nws yog ib qho tseem ceeb uas yuav tsum paub txog cov no.
- Kab mob plawv: Qhov no yog qhov tseem ceeb tshaj plaws uas yuav tsum tau ceev faj . Kev nqaim (stenosis) ntawm cov hlab ntsha loj uas txuas nrog lub plawv yog ib qho uas tshwm sim ntau. Qhov no tuaj yeem ua rau muaj cov mob xws li ntshav siab thiab lub plawv dhia tsis xwm yeem (arrhythmia).
- Cov Calcium Qib: Cov calcium theem hauv cov ntshav thiab zis yuav nce ntxiv.
- Teeb meem Hormonal: Muaj kev pheej hmoo ntawm hypothyroidism, puberty thaum ntxov, thiab ntshav qab zib thaum laus.
- Kab mob pob ntseg: Kev kis kab mob pob ntseg ntau zaus tuaj yeem ua rau hnov lus tsis zoo.
- Lwm yam: Kuj yuav pom muaj mob Scoliosis, nyuaj noj mov thaum yau, thiab muaj teeb meem pom kev (kev pom kev deb).
Tus kws kho mob kuaj mob li cas?
Koj tus kws kho mob yuav xav txog qhov mob no yog tias nws xav tias koj tus menyuam muaj kev loj hlob qeeb lossis txhawj xeeb txog lawv qhov tsos. Txoj hauv kev tseem ceeb los paub meej tias tus mob yog los ntawm kev kuaj noob caj noob ces . Qhov no zoo li kev kuaj ntshav ib txwm muaj. Nws tuaj yeem kuaj xyuas seb puas muaj chromosome 7 uas ploj lawm.
Tsis tas li ntawd xwb, yuav muaj ntau yam kev kuaj mob ntxiv uas yuav ua tau los xyuas kom meej lwm cov tsos mob:
- Kev kuaj mob plawv: Yuav tsum tau ua ECG lossis kev ntsuas plawv (Echocardiogram) los xyuas seb puas muaj teeb meem nrog lub plawv thiab cov hlab ntsha.
- Kev ntsuas ntshav siab: Nws yog ib qho tseem ceeb uas yuav tsum tau kuaj xyuas koj tus menyuam cov ntshav siab tsis tu ncua.
- Kev kuaj ntshav thiab zis: Cov kev kuaj no yog ua los xyuas cov calcium thiab kev ua haujlwm ntawm lub raum.
Yuav kho thiab tswj nws li cas?
Tus mob Williams syndrome no kho tsis tau tag nrho vim nws yog ib yam mob uas los ntawm noob caj noob ces. Txawm li cas los xij, cov tsos mob thiab teeb meem uas cuam tshuam nrog nws tuaj yeem tswj tau zoo thiab tus menyuam tuaj yeem ua neej nyob zoo li qub thiab muaj kev zoo siab.
Txoj kev npaj kho mob txawv ntawm ib tug menyuam mus rau ib tug menyuam thiab xav tau kev pab los ntawm ntau tus kws tshwj xeeb.
1. Kws Kho Mob Plawv: Nws yog ib qho tseem ceeb uas yuav tsum tau kuaj xyuas lub plawv ntawm tus menyuam tsis tu ncua. Yog tias muaj teeb meem, yuav muab kev kho mob tsim nyog (tshuaj lossis phais).
2. Kev Pab Thaum Ntxov: Muaj ntau yam kev kho mob los pab tus menyuam txoj kev loj hlob thiab kev kawm. Kev Kho Mob Hais Lus, Kev Kho Mob Ua Haujlwm, thiab Kev Kho Mob Lub Cev yog cov tseem ceeb.
3. Kev Kawm Tshwj Xeeb: Tej zaum yuav tsim nyog muaj cov kev kawm tshwj xeeb los kov yeej cov teeb meem kev kawm uas yuav tshwm sim hauv tsev kawm ntawv.
4. Lwm cov kws tshwj xeeb: Nws yog ib qho tseem ceeb uas yuav tsum mus ntsib cov kws kho mob uas tshwj xeeb hauv cov chaw no kom tswj tau cov calcium, kho cov teeb meem hormonal, thiab kuaj xyuas kev noj qab haus huv ntawm koj cov hniav thiab qhov muag.
Thaum twg yuav tsum mus ntsib kws kho mob thiab thaum twg yuav tsum mus rau ETU
Nws yog ib qho tseem ceeb heev uas yuav tsum tau ua tib zoo saib xyuas koj tus menyuam txoj kev noj qab haus huv. Tsis txhob ncua sijhawm nrhiav kev pab kho mob hauv cov xwm txheej hauv qab no.
| Lub cib fim | Yuav ua li cas |
|---|---|
| Mus ntsib koj tus kws kho mob... | |
| Yog tias cov theem tseem ceeb ntawm kev loj hlob raug ncua (piv txwv li, taug kev lig lossis hais lus). | Tham nrog koj tus kws kho mob txog kev loj hlob ntawm koj tus menyuam. |
| Yog tias koj muaj mob pob ntseg ntau zaus los yog koj hnov lus tsis zoo. | Nws yog ib qho tsim nyog mus ntsib kws kho mob pob ntseg, qhov ntswg, thiab caj pas. |
| Yog koj muaj teeb meem noj mov. | Nrhiav kev qhia tswv yim kho mob txog kev noj zaub mov thiab kev nyuaj nqos. |
| Mus rau chav kho mob ceev (ETU) ntawm tsev kho mob tam sim ntawd... | |
| Yog koj qhia cov tsos mob ntawm tus kab mob plawv. |
|
Ua ib tug niam txiv, koj txoj kev hlub, kev txhawb nqa, thiab kev ua siab ntev yog lub zog loj tshaj plaws uas koj tus menyuam muaj peev xwm muab tau. Cov menyuam no tus cwj pwm hlub thiab sib raug zoo ua rau lawv nyiam txhua tus.
Cov Lus Qhia Txog Kev Coj Mus Tsev
- Williams syndrome yog ib qho mob caj ces tsis tshua muaj uas tshwm sim los ntawm kev poob ib feem ntawm chromosome 7. Qhov no tsis yog ib yam dab tsi uas yog vim muaj qhov txhaum ntawm niam txiv.
- Cov menyuam no muaj peev xwm sib raug zoo, muaj kev hlub, thiab muaj peev xwm hais lus zoo.
- Qhov teeb meem tseem ceeb tshaj plaws yog cov teeb meem ntsig txog lub plawv, yog li ntawd, kev saib xyuas tsis tu ncua los ntawm tus kws kho mob plawv yog qhov tseem ceeb heev.
- Txawm hais tias tus mob no kho tsis tau los xij, cov tsos mob tuaj yeem tswj tau thiab tus menyuam tuaj yeem muaj lub neej zoo heev nrog kev kho mob thiab kev txhawb nqa tsim nyog.
- Yog koj muaj kev txhawj xeeb txog koj tus menyuam, nrog koj tus kws kho mob tham txog qhov ntawd.
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Tsis muaj lus teb tau muab tso tawm. Ntxiv koj cov lus tawm ntawm no thawj zaug.
Ntxiv koj cov lus