Christianson Syndrome yog dab tsi? Peb puas yuav tham txog qhov mob caj ces tsis tshua muaj no?

Koj puas tau xav tias koj tus menyuam puas muaj teeb meem kev loj hlob qeeb? Los yog nws zoo li lawv muaj teeb meem kev taug kev lossis kev hais lus? Qee zaum cov tsos mob no tuaj yeem tshwm sim los ntawm ib qho mob caj ces tsis tshua muaj. Hnub no peb yuav tham txog ib qho mob tsis tshua muaj tab sis tseem ceeb uas yuav tsum paub txog. Nws hu ua Christianson Syndrome. Tsis txhob txhawj, nws yog ib qho tseem ceeb heev uas yuav tsum paub txog qhov no.

Christianson Syndrome yog dab tsi?

Hais yooj yim xwb, Christianson Syndrome yog ib qho mob tsis tshua muaj, uas yog, tsis tshua muaj pom los ntawm cov noob caj noob ces . Qhov no feem ntau cuam tshuam rau peb lub paj hlwb. Xav txog nws, lub paj hlwb yog lub cev tseem ceeb uas xa cov lus hauv peb lub cev thiab tswj txhua yam haujlwm. Yog li thaum qhov no raug cuam tshuam, tej yam xws li kev taug kev thiab kev hais lus tuaj yeem raug cuam tshuam. Cov neeg uas muaj tus mob no muaj kev loj hlob qeeb lossis kev tsis taus ntawm kev txawj ntse. Feem ntau, cov tsos mob no pib tshwm sim thaum tseem yog menyuam yaus.

Leej twg raug tus mob no ntau tshaj? Vim li cas nws zoo li tsuas yog cuam tshuam rau cov tub hluas xwb?

Tam sim no saib seb, tus kab mob no hu ua Christianson Syndrome feem ntau pom ntawm cov tub hluas . Muaj ib qho laj thawj tshwj xeeb rau qhov ntawd. Nws yog "X-linked genetic disorder", uas txhais tau tias nws yog los ntawm qhov tsis zoo ntawm genetic uas cuam tshuam nrog X chromosome.

Peb txhua tus muaj tej yam me me hu ua chromosomes hauv peb lub hlwb uas khaws cov ntaub ntawv txog noob caj noob ces. Cov poj niam muaj ob lub X chromosomes (XX), thiab cov txiv neej muaj ib lub X chromosome thiab ib lub Y chromosome (XY).

Yog li ntawd, txawm tias ib tug poj niam muaj qhov kev hloov pauv ntawm cov noob caj noob ces rau Christiansen syndrome ntawm ib qho X chromosome, tab sis lwm qhov X chromosome noj qab haus huv feem ntau tsis ua rau muaj tsos mob. Lawv tuaj yeem yog tus nqa tus kab mob. Qhov ntawd txhais tau tias lawv muaj cov noob caj noob ces rau nws txawm tias lawv tsis muaj tus kab mob.

Tiam sis yog tias ib tug txiv neej muaj qhov kev hloov pauv ntawm cov noob caj noob ces no ntawm nws tus X chromosome xwb, nws yuav muaj cov tsos mob vim nws tsis muaj X chromosome noj qab haus huv los ua txoj haujlwm. Rau ib tug poj niam kom muaj tus kab mob no, nws yuav tsum muaj qhov kev hloov pauv no ntawm ob qho X chromosomes. Qhov ntawd tsis tshua muaj, uas txhais tau tias qhov muaj feem yuav tshwm sim yog tsawg heev.

Christianson Syndrome no muaj ntau npaum li cas?

Qhov tseeb, nws nyuaj rau hais meej tias qhov no tshwm sim ntau npaum li cas los ntawm kev suav lej. Vim tias nws yog ib qho mob tsis tshua muaj. Cov kws kho mob hais tias nws tsis tshua muaj heev .Nws yog ib qho mob tsis tshua muaj. Qee qhov kev kwv yees qhia tias kwv yees li ib ntawm 600 tus tub hluas uas muaj kev tsis taus ntawm X-linked yuav muaj tus mob no. Lwm txoj kev tshawb fawb pom tias Christianson Syndrome tshwm sim hauv kwv yees li ib ntawm 100 tsev neeg uas muaj tus menyuam uas muaj kev tsis taus ntawm X-linked. Yog li, koj tuaj yeem pom tias qhov no tsis tshua muaj, puas yog?

Cov tsos mob ntawm Christianson Syndrome yog dab tsi?

Zoo, cia peb saib seb cov tsos mob ntawm tus tub hluas uas muaj tus kab mob Christianson Syndrome qhia li cas. Tej zaum koj yuav pom qee lossis tag nrho cov no. Tsis yog txhua tus menyuam yuav muaj tag nrho cov tsos mob, thiab qhov ntawd yog ib yam dab tsi uas yuav tsum nco ntsoov.

Cov yam ntxwv tseem ceeb uas feem ntau pom yog:

• Teeb meem nrog kev taug kev thiab kev sib npaug (ataxia): Qhov no txhais tau tias nws nyuaj rau tswj kev sib npaug, thiab koj yuav xav tias tsis ruaj khov lossis tsis khov kho thaum taug kev.
• Kab mob qaug dab peg: Qhov no txhais tau tias tej yam mob xws li qaug dab peg tuaj yeem tshwm sim. Qhov no yog kev poob siab tam sim ntawd thiab qaug dab peg.
• Teeb meem qhov muag: Piv txwv li, strabismus, lossis raws li peb hais, 'qhov muag hla', yog ib qho mob zoo li ntawd.
• Tsis muaj peev xwm hais lus lossis muaj teeb meem loj heev: Qhov nyuaj rau hais lus, lossis txawm tias tsis muaj peev xwm hais lus li, lossis kev hais lus yuav tsawg heev.
• Kev tsis taus ntawm lub hlwb: Tej zaum yuav muaj qhov tsis muaj peev xwm kawm, nkag siab, thiab lwm yam. Qhov no yuav txawv ntawm ib tus neeg mus rau ib tus neeg.
• Microcephaly: Lub taub hau yuav me dua li qub. Qhov no ntsuas raws li tus menyuam lub hnub nyoog thiab poj niam txiv neej.

Ntxiv rau qhov no, qee qhov nta ntxiv tuaj yeem pom:

• Kev puas siab puas ntsws Autism: Cov tsos mob xws li tsis kam koom nrog kev sib raug zoo, kev sib raug zoo nrog lwm tus, thiab kev coj cwj pwm rov ua dua.
• Cerebellar atrophy: Lub cerebellum uas tswj kev sib npaug thiab kev txav mus los yuav tsum tsis txhob loj hlob lossis ntsws.
• Teeb meem ntawm lub plab zom mov: Piv txwv li, cov mob xws li kab mob gastroesophageal reflux (GERD), uas ua rau muaj cov tsos mob xws li mob plab thiab rov qab los.
• Tsis muaj peev xwm taug kev: Tej zaum koj yuav taug kev tau thaum xub thawj, tab sis dhau sij hawm, koj lub peev xwm taug kev yuav txo qis lossis ploj mus. Qhov no hu ua 'regression' .
• Cov leeg tsis muaj zog (hypotonia): Lub cev yuav xav tias qaug zog thiab tsis muaj zog, zoo li ib tug menyuam roj hmab.
• Kev poob phaus lossis kev poob qhov siab:Tej zaum koj yuav poob qhov hnyav thiab qhov siab uas haum rau koj lub hnub nyoog. Qhov ntawd txhais tau tias koj txoj kev loj hlob yuav qeeb.

Qhov txawv tiag tiag yog tias cov menyuam yaus uas muaj Christianson Syndrome qee zaum qhia cov tsos mob zoo ib yam li cov menyuam yaus uas muaj lwm yam mob caj ces hu ua Angelman syndrome, xws li zoo siab tsis muaj laj thawj thiab luag ntxhi txhua lub sijhawm.

Raws li tau hais ua ntej lawm, cov poj niam uas muaj qhov kev hloov pauv caj ces no, uas yog, cov neeg nqa cov kab mob no, feem ntau muaj peev xwm muaj kev tsis taus hauv kev kawm, tab sis lawv tsis tshua muaj cov tsos mob hnyav uas cov tub hluas muaj.

Dab tsi ua rau muaj tus mob Christianson Syndrome?

Yog tias peb saib qhov ua rau qhov no, Christianson Syndrome yog ib qho kev mob caj ces . Uas yog, nws yog tshwm sim los ntawm kev hloov pauv lossis kev hloov pauv hauv ib lub noob caj ces. Yog hais kom meej, nws yog tshwm sim los ntawm kev hloov pauv hauv lub noob caj ces hu ua SLC9A6 ntawm X chromosome.

Qhov kev hloov pauv ntawm cov noob caj noob ces no yog tau los ntawm niam txiv mus rau cov menyuam. Feem ntau, cov niam txiv uas muab qhov kev hloov pauv no rau lawv cov menyuam yog cov neeg nqa tus kab mob no. Qhov no txhais tau tias txawm tias lawv muaj qhov kev hloov pauv no hauv lawv cov noob caj noob ces, lawv tsis qhia cov tsos mob.

Yuav kuaj tus kab mob no li cas?

Thaum kws kho mob pom koj lossis koj tus menyuam, lawv yuav xav tias muaj tus mob Christianson Syndrome yog tias lawv muaj cov tsos mob uas peb tau tham ua ntej.

Xav txog seb, me ntsis Kasun yug los zoo li lwm tus menyuam mos. Tab sis maj mam zuj zus, nws niam nws txiv paub tias Kasun laus dua lwm tus menyuam me ntsis. Nws lig dhau los tuav nws lub caj dab kom zoo, lig dhau los dov, thiab lig dhau los zaum. Tom qab ntawd, thaum nws pib taug kev, nws yuav ntog ntau zaus, zoo li nws tsis muaj qhov sib npaug. Nws kuj pib hais lus lig heev, tab sis nws cov lus tsis meej. Tom qab nws pib mus kawm ntawv, nws muaj teeb meem nkag siab cov lus qhia. Tsuas yog thaum nws coj nws mus rau tus kws kho mob, uas tau ua ntau yam kev kuaj mob thiab pom ib qho mob hu ua Christianson Syndrome.

Yuav kom paub tseeb qhov no, lossis txiav txim siab seb puas muaj qhov no, yuav tsum kuaj ntshav tshwj xeeb . Qhov kev kuaj ntshav no yog siv los nrhiav seb puas muaj kev hloov pauv hauv cov noob hu ua SLC9A6. Qhov no hu ua kev kuaj noob caj noob ces .

Cov kev kho mob rau Christianson Syndrome yog dab tsi?

Ib lo lus nug uas ntau tus neeg nug yog seb puas muaj kev kho tau zoo rau qhov no. Qhov tseeb, tseem tsis tau muaj kev kho. Txawm li cas los xij, qhov ntawd yuav tsum tsis txhob ua rau koj poob siab. Muaj ntau txoj kev kho mob uas tuaj yeem pab tswj cov tsos mob thiab txhim kho lub neej zoo rau tus menyuam thiab tsev neeg.

Koj lossis koj tus menyuam txoj kev npaj kho mob yuav muaj xws li:

• Kev kho mob rau cov teeb meem ntawm qhov muag: tej yam xws li tsom iav, thiab tej zaum phais kom kho qhov muag tsis pom kev (strabismus).
• Cov Phiaj Xwm Kev Kawm Ntawv Tus Kheej (IEPs): Pab cov menyuam yaus uas muaj teeb meem kev txawj ntse lossis kev kawm kom kawm tau raws li lawv xav tau.
• Cov tshuaj tiv thaiv kev qaug dab peg: Cov tshuaj uas cov kws kho mob tau sau ntawv kom txo qhov zaus thiab qhov hnyav ntawm kev qaug dab peg.
• Kev Kho Mob Lub Cev: Qhov no pab tau zoo heev rau kev txhim kho lub zog ntawm lub cev, cov leeg nqaij, kev taug kev, thiab kev sib npaug.
• Kev Kho Mob Hais Lus: Txhim kho kev txawj hais lus thiab kev sib txuas lus. Kuj tseem tuaj yeem qhia lwm txoj kev sib txuas lus rau cov neeg uas tsis tuaj yeem hais lus.
• Kev kho mob ua haujlwm: Pab nrog cov haujlwm txhua hnub xws li hnav khaub ncaws, noj mov, thiab lwm yam dej num ntawm kev ua neej txhua hnub.

Tag nrho cov no yog ua los pab tus me nyuam kom ua neej zoo tshaj plaws.

Puas tiv thaiv tau Christianson Syndrome?

Qhov tseeb, tsis muaj ib txoj hauv kev los tiv thaiv Christianson Syndrome lossis qhov kev hloov pauv ntawm cov noob caj noob ces uas ua rau nws, vim nws yog caj ces.

Txawm li cas los xij, yog tias koj xav tias koj yog tus nqa tus kab mob no, lossis yog tias ib tug neeg hauv koj tsev neeg muaj tus mob no, koj tuaj yeem kuaj noob caj noob ces .

Qhov kev kuaj noob caj ces no suav nrog kev coj koj cov ntshav thiab nrhiav qee yam kev hloov pauv noob caj ces. Tus kws pab tswv yim txog noob caj ces mam li piav qhia cov txiaj ntsig ntawm kev kuaj rau koj. Lawv yuav pab koj nkag siab txog cov teebmeem ntawm cov kev hloov pauv no thiab koj yuav muaj menyuam nrog Christianson Syndrome npaum li cas. Qhov no tseem ceeb heev uas yuav tsum paub ua ntej pib tsev neeg lossis muaj lwm tus menyuam.

Lub neej yuav zoo li cas nrog qhov xwm txheej no? (Outlook)

Yog tias muaj kev saib xyuas zoo, xws li kev kho lub cev thiab kev kho kev hais lus, cov neeg uas muaj tus kab mob Christianson Syndrome tuaj yeem ua neej zoo . Lawv tuaj yeem ua haujlwm tau zoo tshaj plaws.

Vim tias kev tshawb fawb txog tus kab mob no tseem tab tom ua mus, tsis muaj cov ntaub ntawv tseeb txog lub neej ntev. Txawm li cas los xij, feem ntau, cov neeg uas muaj tus kab mob no nyob tau lub neej ntev li qub. Txawm li cas los xij, qee zaum muaj ib qho mob hu ua 'regression' , uas txhais tau tias muaj kev poob qis ntawm cov peev xwm uas twb muaj lawm. Piv txwv li, lub peev xwm hais lus lossis taug kev yuav zoo rau ib pliag, tab sis tom qab ntawd rov qab puas tsuaj dua. Nws yog qhov zoo los tham nrog koj cov kws kho mob txog tej yam zoo li no thiab npaj txhij los ntsib lawv.

Koj yuav tsum nug tus kws kho mob li cas?

Yog koj xav tias koj lossis koj tus menyuam muaj tus mob Christianson Syndrome, lossis yog koj tau kuaj pom tias muaj tus mob no, koj tuaj yeem nug koj tus kws kho mob cov lus nug no. Tsis txhob ntshai nug txhua yam uas koj xav txog.

• Yuav siv cov kev kuaj twg los kuaj mob Christianson Syndrome?
• Qhov ua rau qhov no yog dab tsi tiag? Puas yog nws yog teeb meem nrog kuv cov noob caj noob ces?
• Cov kev kho mob twg zoo tshaj plaws rau kuv tus menyuam?
• Kuv ua tau dab tsi hauv tsev los txhim kho lub neej zoo rau kuv tus menyuam uas muaj tus mob Christianson Syndrome?
• Muaj feem ntau npaum li cas uas kuv cov menyuam lwm tus, lossis cov menyuam yav tom ntej, yuav tau txais tus kab mob no?
• Peb tuaj yeem nrhiav cov koom haum thiab cov pab pawg txhawb nqa twg kom tau kev pab nrog qhov xwm txheej no?

Cia peb nco ntsoov cov ntsiab lus no (Cov Lus Coj Mus Tsev)

• Christianson Syndrome yog ib qho mob caj ces tsis tshua muaj .
• Qhov no feem ntau cuam tshuam rau lub paj hlwb, ua rau muaj teeb meem taug kev thiab hais lus .
• Feem ntau pom muaj kev tsis taus ntawm kev txawj ntse .
• Tus mob no feem ntau cuam tshuam rau cov tub hluas (X-linked).
• Txawm hais tias tsis muaj kev kho mob tshwj xeeb rau qhov no los xij, muaj ntau yam kev kho mob uas tuaj yeem tswj cov tsos mob thiab txhim kho lub neej zoo.

Yog tias koj lossis koj tus menyuam muaj cov tsos mob no, qhov zoo tshaj plaws uas yuav tsum ua yog tsis txhob ntshai, tab sis mus nrhiav kev pab kho mob sai li sai tau. Nco ntsoov tias, koj tsis yog tib tug neeg hauv txoj kev no, thiab kev thov kev pab thiab kev paub txog yuav pab koj daws tau qhov teeb meem no zoo dua.

` Christianson Syndrome, Kab Mob Genetic, Lub Cev Nervous, X-linked, Kev Tsis Taus ntawm Lub Hlwb, Qaug Dab Peg, Kev Loj Hlob qeeb