Angelman Syndrome: Zaj Dab Neeg Tom Qab Koj Tus Menyuam Lub Luag Ntxhi

Koj tus me nyuam puas ib txwm luag ntxhi thiab zoo siab? Nws puas qee zaum ntaus tes qhia nws txoj kev zoo siab? Tej zaum koj yuav zoo siab thaum koj pom nws. Tab sis, koj puas paub tias qee zaum tom qab lub ntsej muag zoo siab zoo li no, tej zaum yuav muaj ib qho mob caj ces tsis tshua muaj uas cuam tshuam rau nws txoj kev loj hlob, kev hais lus, thiab kev taug kev? Hnub no, peb yuav tham txog ib qho mob zoo li no, Angelman Syndrome.

Angelman Syndrome yog dab tsi?

Hais yooj yim xwb, Angelman Syndrome yog ib yam mob caj ces uas tsis tshua muaj . Nws tuaj yeem cuam tshuam rau koj tus menyuam txoj kev loj hlob, kev hais lus, thiab kev taug kev. Ib txhia menyuam yaus yuav muaj qaug dab peg.

Tiam sis qhov tshwj xeeb txog qhov no yog tias cov menyuam uas muaj tus mob no feem ntau pom tias zoo siab thiab luag ntxhi heev . Lawv luag ntxhi ntau, luag nrov nrov, thiab qee zaum ua "kev co tes" thaum lawv zoo siab. Thaum koj pom qhov no, koj kuj zoo siab thiab, thiab koj kuj tseem yuav xav tias, 'Auj, qhov kev zoo siab no hauv kuv tus menyuam puas yog ib qho cim ntawm kev mob?' Nws yog ib qho kev xav txawv txawv me ntsis, puas yog?

Tus mob no tsis yog ib qho mob txaus ntshai rau lub neej, uas txhais tau tias nws tsis muaj feem cuam tshuam loj rau koj tus menyuam lub neej. Txawm li cas los xij, nws yuav ua rau cov niam txiv tshiab txhawj xeeb me ntsis. Thaum koj tus menyuam loj hlob tuaj, lawv yuav ntsib teeb meem nrog kev taug kev, kev hais lus, thiab kev loj hlob. Txawm li cas los xij, muaj cov kev kho mob zoo uas tuaj yeem pab koj tswj cov tsos mob no thiab ua neej nyob li qub.

Angelman Syndrome tsis tshua muaj pes tsawg?

Qhov no yog ib qho mob tsis tshua muaj. Yog hais li ntawd, nws cuam tshuam rau li ib tug ntawm 12,000 txog 20,000 tus menyuam .

Peb yuav paub li cas yog tias peb tus menyuam muaj tus mob no? (Cov tsos mob)

Cov tsos mob ntawm cov menyuam yaus uas muaj tus kab mob Angelman Syndrome yuav txawv ntawm ib tus neeg mus rau ib tus neeg. Cov tsos mob no kuj tuaj yeem hloov pauv raws li hnub nyoog. Cia peb saib cov tsos mob tseem ceeb uas tuaj yeem pom.

Cov tsos mob uas pom tau thaum yau

Tej zaum koj yuav tau pom qee yam thaum koj tus menyuam tseem hluas. Piv txwv li:

• Kev loj hlob qeeb: Tej zaum yuav ua tsis tau tej yam raws li lwm tus menyuam. Piv txwv li, tsis hais lawv cov lus thawj zaug thaum lawv muaj li ib xyoos.
• Nyuaj siab pub niam mis: Tus menyuam yuav muaj teeb meem tuav lub mis.
• Ib txwm zoo siab thiab luag ntxhi: Qhov no yog thawj qhov uas feem ntau cov neeg pom. Ib txwm luag ntxhi, qw tes thaum zoo siab.
• Kev pw tsaug zog tsis zoo: Tej zaum yuav muaj teeb meem nrog cov qauv pw tsaug zog.

Cov tsos mob uas pom tau thaum koj laus me ntsis

Thaum tus me nyuam loj hlob me ntsis, li ntawm ob lossis peb xyoos, lwm cov tsos mob yuav tshwm sim:

• Kev tsis taus ntawm lub hlwb: Tej zaum yuav pom qee qhov kev ncua sij hawm hauv kev kawm.
• Teeb meem hais lus: Qee tus menyuam tsuas hais tau ob peb lo lus xwb, thaum lwm tusTej zaum koj yuav tsis hais tau ib lo lus (tsis yog hais lus).
• Teeb meem kev taug kev: Tej zaum koj yuav taug kev nrog kev taug kev dav dav, tsis muaj kev sib npaug zoo . Qhov no qee zaum hu ua ataxia (teeb meem nrog kev sib npaug lossis kev sib koom tes).
• Qaug dab peg: Qaug dab peg yuav pib ntawm hnub nyoog ob thiab peb xyoos.
• Kev hloov pauv ntawm cov leeg nqaij: Tej zaum yuav muaj cov leeg nqaij ntau ntxiv hauv caj npab thiab ceg, lossis cov leeg nqaij hauv lub cev txo qis.
• Scoliosis: Ib qho curvature ntawm tus txha nraub qaum tuaj yeem pom.
• Teeb meem ntawm lub cev zom zaub mov: Tej zaum yuav muaj mob cem quav lossis mob gastroesophageal reflux disorder (GERD) .
• Teeb meem ntawm qhov muag: Tej yam xws li nystagmus , strabismus , thiab photophobia .
• Kev hloov xim ntawm daim tawv nqaij (hypopigmentation): Xim ntawm daim tawv nqaij yuav txo qis hauv qee qhov chaw.

Cov yam ntxwv tshwj xeeb ntawm lub ntsej muag

Cov menyuam no kuj muaj qee yam tshwj xeeb hauv lawv lub ntsej muag, tab sis cov no tsis zoo ib yam rau txhua tus.

• Lub pob txha taub hau luv thiab dav (brachycephaly)
• Ib tug nplaig uas loj dua li qub (macroglossia)
• Me dua li lub taub hau ib txwm muaj (microcephaly)
• Kev tawm ntawm lub puab tsaig qis (mandibular prognathia)
• Qhov ncauj dav
• Cov hniav sib nrug deb

Cov tsos mob no yuav pom tseeb dua thaum koj laus zuj zus.

Vim li cas qhov no thiaj tshwm sim? Yog vim li cas?

Zoo, tam sim no cia peb saib seb dab tsi ua rau muaj Angelman Syndrome. Qhov no yog ib qho mob caj ces . Nws yog tshwm sim los ntawm kev hloov pauv hauv cov noob hu ua UBE3A hauv peb lub cev.

Hais yooj yim xwb, tus gene 'UBE3A' no qhia kom peb tsim ib qho enzyme hu ua ubiquitin protein ligase E3A, uas pab peb lub paj hlwb ua haujlwm. Yog tias tus gene no puas lawm lossis ploj lawm, cov tsos mob ntawm Angelman syndrome yuav tshwm sim.

Feem ntau, peb tau txais ob daim qauv ntawm txhua tus noob caj noob ces - ib daim los ntawm peb niam, ib daim los ntawm peb txiv. Hauv feem ntau ntawm peb cov nqaij ntawm peb lub cev, ob daim qauv ntawm cov noob caj noob ces 'UBE3A' no ua haujlwm. Txawm li cas los xij, hauv qee qhov chaw tshwj xeeb ntawm lub hlwb, tsuas yog daim qauv los ntawm peb niam thiaj ua haujlwm.Yog li ntawd, yog tias qee yam daim qauv ntawm cov noob caj noob ces 'UBE3A' uas koj tau txais los ntawm koj niam puas lawm, lossis yog tias nws ploj mus, ces cov feem ntawm lub hlwb ntawd poob ib daim qauv ua haujlwm ntawm cov noob caj noob ces no. Thaum ntawd lub paj hlwb ua haujlwm raug cuam tshuam thiab cov tsos mob no tshwm sim.

Feem ntau, qhov no tsis yog ib yam dab tsi uas khiav hauv tsev neeg . Nws yog tshwm sim los ntawm kev hloov pauv caj ces random. Hauv qee kis, nws yuav yog tshwm sim los ntawm lwm qhov kev hloov pauv caj ces uas tseem tsis tau paub meej ntxiv rau lub noob 'UBE3A'.

Cov kws kho mob kuaj qhov no li cas kom raug?

Feem ntau, cov tsos mob ntawm Angelman Syndrome tsis pom tseeb thaum yug los. Cov kws kho mob feem ntau kuaj mob ntawm ib xyoos thiab plaub xyoos . Txawm li cas los xij, muaj qee lub sijhawm uas tuaj yeem kuaj mob thaum cev xeeb tub.

Qhov no qee zaum tuaj yeem kuaj pom thaum ntxov nrog kev kuaj mob hu ua kev kuaj mob ua ntej yug menyuam (NIPS) thaum cev xeeb tub. Kev kuaj mob NIPS nrhiav cov DNA ntawm tus menyuam hauv cov ntshav ntawm leej niam thiab ntsuas qhov kev pheej hmoo ntawm tus menyuam ntawm kev muaj mob caj ces.

Tus kws kho mob feem ntau xav tias muaj tus mob no thaum ib tug me nyuam ua tsis tau raws li cov theem kev loj hlob uas tsim nyog rau lawv lub hnub nyoog . Piv txwv li, tsis hais lawv cov lus thawj zaug raws sijhawm lossis tsis pib taug kev. Tsis tas li ntawd, tus kws kho mob kuj yuav ua tib zoo saib xyuas tus me nyuam cov tsos mob lwm yam.

Yuav kom paub tseeb tias kuaj tau tus kab mob no , yuav tsum tau kuaj noob caj noob ces . Cov kev kuaj no tuaj yeem txheeb xyuas cov kev hloov pauv hauv UBE3A gene. Qee zaum, yuav tsum tau kuaj ntxiv kom paub tseeb tias muaj lwm yam mob uas ua rau muaj cov tsos mob zoo sib xws.

Puas yog nws yog kev kuaj mob tsis raug?

Yog, qee zaum nws tuaj yeem yog kev kuaj mob tsis raug, vim tias cov tsos mob ntawm Angelman syndrome zoo ib yam li cov tsos mob ntawm lwm yam mob. Piv txwv li:

• Kev puas siab puas ntsws Autism spectrum
• Kab mob hlwb tawg
• Christianson syndrome
• Mob Mowat-Wilson (Mowat-Wilson syndrome)
• Kab mob Phelan-McDermid (Phelan-McDermid syndrome)
• Kab mob Pitt-Hopkins
• Prader-Willi syndrome

Yog li ntawd, kev kuaj mob caj ces thiab lwm yam kev kuaj mob yog qhov tseem ceeb heev rau kev kuaj mob kom raug .

Cov kev kho mob rau qhov no yog dab tsi?

Tsis muaj tshuaj kho tau tus mob Angelman Syndrome. Txawm li cas los xij, muaj ntau txoj kev kho mob uas tuaj yeem pab tswj koj tus menyuam cov tsos mob. Cov kev kho mob no yuav txawv ntawm ib tus menyuam mus rau ib tus menyuam, vim tsis yog txhua tus muaj cov tsos mob zoo ib yam.

Nov yog qee txoj kev kho mob:

• Cov tshuaj tiv thaiv qaug dab peg: Cov menyuam yaus uas muaj qaug dab peg xav tau cov tshuaj no.
• Kev Kho Mob Hais Lus thiab Kev Sib Txuas Lus: Tej yam xws li kev pab hais lus, kev pab kawm lus piav tes, thiab kev siv cov cuab yeej sib txuas lus tshwj xeeb.
• Kev Pab Cuam Thaum Ntxov thiab Cov Kev Pab Cuam Kev Kawm: Cov kev pab cuam uas pab cov menyuam yaus kom ncav cuag cov hom phiaj kev loj hlob thiab ua tiav cov hom phiaj kev kawm.
• Kev Kho Mob Lub Cev: Pab kov yeej qhov teeb meem ntawm kev sib npaug, kev sib koom tes, thiab kev taug kev.
• Kev kho mob ua haujlwm: Pab tus menyuam ua haujlwm tau ywj pheej thiab ua tiav tej haujlwm txhua hnub.
• Cov khoom siv txhawb nqa: Tej zaum koj yuav tsum siv cov hlau txhawb nqa rau koj nraub qaum, pob luj taws, thiab ko taw.
• Cov txheej txheem tshwj xeeb rau kev pub niam mis: Tej yam xws li cov kua zaub tshwj xeeb rau cov menyuam mos uas muaj teeb meem pub niam mis.
• Tsim kom muaj tus cwj pwm pw tsaug zog zoo: Ua kom muaj tus cwj pwm mus pw rau lub sijhawm teem tseg.
• Cov tshuaj uas pab lub cev zom zaub mov: Cov tshuaj uas pab cov khoom noj txav mus los hauv lub cev kom zoo.

Koj tus menyuam tus kws kho mob yuav txiav txim siab seb txoj kev kho mob twg zoo tshaj plaws rau koj tus menyuam.

Yuav saib xyuas ib tug menyuam uas muaj tus mob Angelman Syndrome li cas?

Thaum saib xyuas ib tug me nyuam uas muaj tus kab mob Angelman syndrome, nws yog ib qho tseem ceeb heev uas yuav tsum ua raws li cov lus qhia ntawm tus kws kho mob.

• Muab tshuaj raws li tau sau tseg.
• Ua cov kev ntsuam xyuas kev loj hlob raws li cov lus pom zoo.
• Koom nrog kev kho lub cev, kev kho mob ua haujlwm, thiab kev kho kev hais lus.
• Mus ntsib kws kho mob raws li hnub teem tseg.

Cov menyuam no tej zaum yuav xav tau kev pab nrog cov dej num txhua hnub thoob plaws lawv lub neej. Pab neeg kho mob ntawm koj tus menyuam yuav pab koj txhua yam, teb koj cov lus nug, thiab qhia koj txog cov pab pawg txhawb nqa uas yuav pab tau.

Koj yuav tsum mus ntsib kws kho mob thaum twg?

Yog tias koj tus menyuam muaj tus mob Angelman syndrome, koj yuav tsum mus ntsib koj pab neeg kho mob tsis tu ncua kom paub tseeb tias kev kho mob thiab kev kho mob ua haujlwm zoo.

• Yog koj pom muaj cov tsos mob tshiab lossis yog koj xav tias cov tsos mob uas twb muaj lawm zuj zus tuaj, qhia rau koj tus kws kho mob tam sim ntawd.
• Yog tias koj tus menyuam muaj qaug dab peg thawj zaug , koj yuav tsum coj lawv mus rau chav kho mob ceev tam sim ntawd.

Cov lus nug tseem ceeb uas yuav nug tus kws kho mob yog dab tsi?

Thaum koj paub tias koj tus menyuam muaj tus mob Angelman syndrome, ntawm no yog qee cov lus nug uas koj tuaj yeem nug tus kws kho mob:

• Cov kev kho mob zoo tshaj plaws los tswj cov tsos mob ntawm kuv tus menyuam yog dab tsi?
• Kuv yuav pab kuv tus menyuam sib txuas lus zoo dua li cas?
• Yog tias kuv npaj yuav muaj ib tug me nyuam ntxiv, kuv yuav xav txog kev kuaj noob caj noob ces lossis kev sab laj txog noob caj noob ces.Koj puas xav ua nws?
• Kuv yuav npaj li cas kom zoo tshaj plaws rau kev txhawb nqa uas kuv tus menyuam yuav xav tau yav tom ntej?
• Koj puas tuaj yeem pom zoo ib pab pawg txhawb nqa?

Qhov no puas tiv thaiv tau?

Kab mob Angelman syndrome no tsis tuaj yeem tiv thaiv tau vim nws yog los ntawm kev hloov pauv caj ces uas tshwm sim thaum lub sijhawm cev xeeb tub. Feem ntau nws tshwm sim yam tsis paub yog vim li cas.

Tsis tshua muaj neeg yuav tau txais tus mob no los ntawm kev yug los. Yog tias koj npaj yuav muaj menyuam, nws yog ib lub tswv yim zoo los tham nrog koj tus kws kho mob txog kev sab laj txog kev hloov pauv caj ces kom nkag siab txog qhov kev pheej hmoo ntawm kev muaj menyuam uas muaj tus mob uas yuav tshwm sim los ntawm tus mob caj ces lossis kev hloov pauv caj ces uas tuaj yeem tau txais los ntawm kev yug los.

Koj muaj lus dab tsi hais txog lub neej ntawm cov menyuam no?

Feem ntau cov neeg uas muaj tus mob Angelman Syndrome muaj lub neej ntev li qub . Qhov no txhais tau tias ib tus neeg uas muaj tus mob no tsis tuag ua ntej ib tus neeg uas tsis muaj tus mob no. Txawm li cas los xij, qhov hnyav ntawm cov tsos mob txawv ntawm ib tus neeg mus rau ib tus neeg. Tej yam teeb meem los ntawm kev qaug dab peg hnyav lossis kev raug mob hnyav los ntawm kev ntog qee zaum tuaj yeem ua rau tuag taus. Pab neeg kho mob ntawm koj tus menyuam yuav muab kev kho mob los tiv thaiv cov xwm txheej no thiab ua kom koj tus menyuam muaj kev nyab xeeb.

Yog li ntawd, yav tom ntej yuav zoo li cas?

Cov kws kho mob xav txog ntau yam tseem ceeb thaum tham txog yav tom ntej ntawm koj tus menyuam. Koj tuaj yeem cia siab tias yuav muaj qee qhov kev ncua sijhawm hauv kev taug kev, kev hais lus, thiab kev loj hlob thaum koj tus menyuam loj hlob. Txawm li cas los xij, koj tus menyuam yuav muaj peev xwm koom nrog cov dej num, ua si, thiab kawm nrog lwm tus menyuam uas muaj hnub nyoog li lawv.

Ib txhia neeg laus uas muaj tus mob no tuaj yeem nyob tau lawv tus kheej, thaum lwm tus yuav xav tau kev pab txhawb nqa thaum lawv loj hlob tuaj. Yog li, koj tus menyuam tus kws kho mob yog tus neeg zoo tshaj plaws los paub txog yam yuav tshwm sim rau xyoo tom ntej.

Nws yuav ua rau koj ntxhov siab thiab ntxhov siab thaum koj paub tias koj tus menyuam luag ntxhi tas li thiab lub ntsej muag zoo siab yog cov cim qhia txog tus mob caj ces. Txawm li cas los xij, koj tus menyuam tseem yuav luag ntxhi thiab zoo siab txawm tias tom qab kuaj pom tias muaj Angelman Syndrome . Qhov tseem ceeb tshaj plaws yog coj koj tus menyuam mus ntsib kws kho mob tsis tu ncua kom paub tseeb tias lawv tau nce qib ntawm qhov nrawm uas haum rau lawv cov kev xav tau. Pab neeg kho mob ntawm koj tus menyuam yuav nrog koj txhua kauj ruam ntawm txoj kev. Tsis txhob yig nug cov lus nug kom paub ntau ntxiv txog tus mob thiab kom paub txog yav tom ntej.

Thaum kawg, tej yam uas yuav tsum nco ntsoov

Kab mob Angelman yog ib yam mob uas tsis tshua muaj los ntawm noob caj ces, tab sis nws tsis ua rau tuag taus. Yog tias koj tus menyuam zoo li zoo siab thiab luag ntxhi txhua lub sijhawm, tab sis nws muaj kev loj hlob qeeb, hais lus tsis tau zoo, lossis muaj teeb meem kev taug kev, nws yog ib qho tseem ceeb uas yuav tsum tham nrog kws kho mob txog qhov no.

• Kev kuaj pom thaum ntxov thiab pib kho mob tsim nyog yuav pab tau ntau yam hauv kev txhim kho tus menyuam lub neej.
• Rau tus me nyuamTej yam xws li kev kho kev hais lus, kev kho lub cev, thiab kev kho mob ua haujlwm tuaj yeem pab tau ntau yam.
• Koj tsis nyob ib leeg xwb. Cov pab pawg txhawb nqa thiab cov lus qhia los ntawm cov kws kho mob yuav yog lub zog zoo rau koj hauv txoj kev no.
• Koj tus menyuam txoj kev zoo siab thiab luag ntxhi yog koj qhov kev nplij siab tshaj plaws. Tiv thaiv qhov kev zoo siab ntawd thiab sim muab qhov zoo tshaj plaws rau koj tus menyuam. Nws yog ib qho tseem ceeb heev uas yuav tsum muaj tus cwj pwm zoo.

Angelman Syndrome, cov kab mob caj ces, kev loj hlob ntawm menyuam yaus, kev loj hlob qeeb, kev kho mob hais lus, qaug dab peg, UBE3A gene, lub ntsej muag zoo siab