Koj tus me nyuam puas muaj tus mob qaug dab peg hnyav no? Cia peb kawm txog Dravet Syndrome!

Yog tias koj tus me nyuam yaus, lossis tus menyuam yaus hnub nyoog qis dua ib xyoos, muaj mob qaug dab peg hnyav nrog rau kub taub hau thiab kav ntev tshaj tsib feeb, koj yuav ntshai npaum li cas? Qhov no yuav yog thawj qhov cim qhia txog tus mob uas tsis tshua muaj thiab tej zaum yuav loj heev hu ua Dravet Syndrome. Hauv qhov mob no, cov menyuam yaus tuaj yeem muaj ntau hom mob qaug dab peg. Tsis yog li ntawd xwb, lawv kuj tuaj yeem muaj ntau yam tsos mob ntxiv, xws li nyuaj hais lus, muaj teeb meem taug kev, thiab qeeb kawm. Tsis txhob txhawj, cia peb tham txog qhov no kom meej.

Cov tsos mob ntawm Dravet Syndrome yog dab tsi?

Cov tsos mob thawj zaug ntawm ib tug me nyuam uas muaj Dravet Syndrome yog qaug dab peg . Qhov no feem ntau tshwm sim ua ntej tus me nyuam muaj ib xyoos. Qhov qaug dab peg thawj zaug no yuav zoo li no:

• Tej zaum yuav siv sijhawm ntau tshaj tsib feeb .
• Feem ntau nws tshwm sim nrog kev kub taub hau, lwm yam kab mob, lossis qhov kub thiab txias ib puag ncig.
• Tej zaum yuav muaj kev sib zog ntawm cov leeg nqaij uas tsis tuaj yeem tswj tau (peb hu ua qaug dab peg).
• Nws tsuas cuam tshuam rau ib sab ntawm lub cev lossis ob sab xwb.

Tom qab ib tug me nyuam muaj ib xyoos, tej zaum yuav muaj lwm yam qaug dab peg. Tej zaum kuj yuav tshwm sim yam tsis muaj kub taub hau. Qhov no txhais tau tias qaug dab peg yuav tshwm sim yam tsis muaj kub taub hau nce. Cov hom qaug dab peg no yog:

• Qaug dab peg thaum tsis muaj dab tsi ua: Ua rau koj tsis nco qab sai sai, zoo li koj sawv ntsug twj ywm. Tab sis qhov no tsuas yog ib ntus xwb.
• Qaug dab peg Atonic: Kev poob ntawm cov leeg nqaij tam sim ntawd, ua rau lub cev zoo li qaug zog.
• Hemiclonic qaug dab peg: Cov leeg nqaij co ntawm ib sab ntawm lub cev xwb.
• Qaug dab peg hauv lub hlwb: Tej zaum yuav tsis nco qab ib ntus, tsis tswj tau cov leeg nqaij, thiab muaj tej yam tsis zoo li qub.
• Myoclonic qaug dab peg: Cov mob qaug dab peg me me uas zoo li ua rau cov leeg nqaij tshee.
• Qaug dab peg Tonic-clonic: Qhov no yog hom qaug dab peg uas peb pom ntau tshaj plaws. Lub cev co tsis tuaj yeem tswj tau.

Ntxiv rau cov tsos mob qaug dab peg no, cov menyuam yaus uas muaj Dravet Syndrome yuav muaj lwm cov tsos mob. Cov no suav nrog:

• Kev loj hlob qeeb: Tej zaum yuav pom kev qeeb hauv kev loj hlob lus, tshwj xeeb tshaj yog hauv kev loj hlob hais lus.
• Teeb meem kev coj cwj pwm: Qee zaum tuaj yeem coj tus cwj pwm nruj.
• Kev puas siab puas ntsws ntawm lub hlwb: Piv txwv li, cov mob xws li 'ADHD' (Kev Xav Tsis Thoob Tsis Taus).
• Kev sib npaug thiab kev sib koom tes nyuaj: Nws tuaj yeem nyuaj rau tswj kev sib npaug thaum taug kev.
• Kev nyuaj siab ntawm kev txav mus los: Tej zaum koj yuav pom kev tshee hnyo lossis kev taug kev tsis ruaj khov.
• Cov leeg tsis muaj zog (hypotonia): Cov leeg nqaij tsis muaj zog.
• Teeb meem pw tsaug zog: Tej yam zoo li tsis tsaug zog, sawv ntau zaus.
• Teeb meem kev loj hlob thiab kev noj haus: Tej yam xws li qhov hnyav tsis nce, tsis xav noj mov.
• Dysautonomia: Qhov no txhais tau tias nyuaj rau tswj cov khoom xws li qhov kub ntawm lub cev, lub plawv dhia, thiab ntshav siab.

Dab tsi ua rau muaj Dravet Syndrome?

Qhov ua rau Dravet Syndrome feem ntau yog vim muaj cov noob caj noob ces hu ua 'SCN1A' . Cov noob caj noob ces 'SCN1A' no qhia peb cov hlwb kom tsim cov sodium channel uas nqa cov sodium ions (cov sodium atoms uas muaj nqi zoo). Cov channel no pab peb cov hlwb tsim thiab xa cov teeb liab hluav taws xob.

Hais yooj yim xwb, xav txog cov noob 'SCN1A' no ua ib qho 'kev ua noj ua haus' rau kev ua cov sodium channel uas ua haujlwm zoo li 'rooj vag' rau peb cov hlwb hlwb. Yog tias muaj qhov yuam kev me me hauv 'kev ua noj ua haus' no, uas yog, kev hloov pauv caj ces, cov 'rooj vag' ntawd tsis tsim kom raug. Tom qab ntawd kev xa cov lus ntawm cov hlwb hlwb, uas yog, 'neurotransmission', raug cuam tshuam. Qhov no yog vim li cas cov tsos mob xws li qaug dab peg tshwm sim.

Qhov no puas yog ib yam uas muaj los ntawm noob caj noob ces?

Yog, Dravet Syndrome yog ib qho mob caj ces . Tab sis feem ntau, nws yog ib qho mob uas tshwm sim tsis tu ncua. Uas yog, nws tshwm sim sai sai, tsis muaj keeb kwm tsev neeg yav dhau los ntawm tus mob no. Txawm li cas los xij, muaj cov xwm txheej uas tus mob no tau cuam tshuam rau ntau tus tswv cuab hauv tsev neeg ntau tiam neeg.

Muaj tej yam tsawg tsawg uas tus mob Dravet syndrome uas los ntawm noob caj ces, qhov kev hloov pauv no tsuas muaj nyob rau hauv qee lub cell ntawm ib leej niam leej txiv xwb (qhov no hu ua 'mosaicism'). Los yog, nws tuaj yeem kis tau los ntawm ib tiam mus rau ib tiam hauv tus qauv 'autosomal dominant'. Qhov no txhais tau tias ib tug menyuam tuaj yeem tau txais tus mob no txawm tias tsuas yog ib leej niam leej txiv muaj qhov kev hloov pauv no xwb.

Tiamsis muaj ib qho uas yuav tsum nco ntsoov yog tias tsis yog txhua tus neeg uas muaj qhov kev hloov pauv ntawm 'SCN1A' yuav muaj cov tsos mob ntawm Dravet Syndrome. Tej zaum ib txhia neeg yuav muaj qhov kev hloov pauv no tab sis tsis muaj tsos mob li. Tsis tas li ntawd, tej zaum ib txhia neeg yuav muaj cov tsos mob ntawm Dravet Syndrome tab sis tsis muaj qhov kev hloov pauv ntawm 'SCN1A'.

Puas muaj tej yam tshwj xeeb uas ua rau muaj kev pheej hmoo rau qhov no?

Yog tias ib tug ntawm koj niam koj txiv lossis lwm tus neeg hauv tsev neeg muaj tus kab mob qaug dab peg lossis muaj kev hloov pauv hauv cov noob 'SCN1A', koj yuav muaj feem yuav muaj tus mob no.

Cov teeb meem uas yuav muaj tau ntawm Dravet Syndrome yog dab tsi?

Cov teeb meem loj tshaj plaws uas tshwm sim los ntawm tus mob no tuaj yeem ua rau tuag taus . Cov teeb meem tseem ceeb yog:

• Cov kev raug mob los ntawm kev qaug dab peg.
• Mob qaug dab peg: Qhov no yog ib qho mob uas muaj qaug dab peg tas li. Qhov no yuav tsum tau kho mob tam sim ntawd.
• Kev Tuag Tam Sim Ntawd Uas Tsis Paub Piav Qhia Hauv Kab Mob Qaug Dab Peg (SUDEP).

Tus kws kho mob uas kho koj tus menyuam yuav piav qhia rau koj txog cov cim qhia txog kev phom sij no thiab yuav npaj ua li cas thaum muaj xwm txheej ceev.

Yuav kuaj mob Dravet Syndrome li cas kom raug?

Koj tus menyuam tus kws kho mob yuav kuaj lub cev ua ntej kom paub seb puas muaj cov tsos mob ntawm Dravet Syndrome. Lawv kuj tseem yuav nug txog koj tus menyuam keeb kwm kev mob nkeeg thiab cov tshuaj uas lawv noj.

Tus kws kho mob yuav nug koj cov lus nug zoo li no:

• Ua ntej tus menyuam qaug dab peg thawj zaug puas loj hlob zoo li qub (lossis ze li qub)?
• Koj puas tau muaj ob lossis ntau dua qhov qaug dab peg, nrog lossis tsis muaj kub taub hau, ua ntej hnub nyoog ib xyoos?
• Cov qaug dab peg ntawd puas yog ob zaug lossis ntau dua, kav ntev tshaj tsib feeb?
• Koj puas piav tau seb muaj dab tsi tshwm sim thaum tus me nyuam qaug dab peg (piv txwv li, tus me nyuam puas ntaus nws lub cev, koj puas tau saib, puas yog lawv tsuas txav ib sab ntawm lawv lub cev xwb)?

Ntxiv mus, tus kws kho mob yuav ua qhov kev kuaj ntshav lossis kev kuaj qaub ncaug kom paub seb puas muaj kev hloov pauv ntawm SCN1A gene. Lawv kuj tseem yuav ua qhov kev kuaj mob uas kuaj lub hlwb, xws li MRI (Magnetic Resonance Imaging) thiab EEG (Electroencephalogram). Txawm li cas los xij, qee zaum qhov kev kuaj mob no tuaj yeem qeeb, vim tias cov txiaj ntsig ntawm MRI thiab EEG kev kuaj mob yuav zoo li qub thaum ntxov.

Yuav kho tus mob Dravet Syndrome li cas?

Lub hom phiaj tseem ceeb ntawm kev kho mob yog kom txo qhov muaj mob qaug dab peg uas koj tus menyuam muaj thiab qhov hnyav ntawm mob qaug dab peg . Txawm li cas los xij, vim tias txhua tus menyuam hom mob qaug dab peg thiab lub sijhawm ntev sib txawv, tsis yog txhua tus menyuam teb rau kev kho mob tib yam. Yog li ntawd, txoj kev npaj kho mob yog tsim rau txhua tus neeg. Qhov no yuav suav nrog:

• Cov tshuaj tiv thaiv qaug dab peg: Cov tshuaj no tuaj yeem txo qhov muaj qaug dab peg uas koj tus menyuam muaj. Txawm li cas los xij, qee cov tshuaj kuj tuaj yeem ua rau muaj qaug dab peg ntau dua, yog li tus kws kho mob yuav kho qhov no kom zoo zoo thiab nrog kev saib xyuas tsis tu ncua.
• Kev noj zaub mov Ketogenic: Tus kws kho mob yuav pom zoo kom koj tus menyuam hloov kev noj zaub mov. Qhov no suav nrog kev noj zaub mov uas muaj roj ntau thiab tsawg cov carbohydrates.
• Kev Kho Mob: Yog tias muaj kev qeeb ntawm kev loj hlob, cov kev pab cuam kev kawm tuaj yeem pab tau. Kev kho lub cev, kev kho mob ua haujlwm, lossis kev kho kev hais lus kuj tuaj yeem pab daws cov teeb meem.

Cov tshuaj twg muab rau Dravet Syndrome?

Lub Koom Haum Saib Xyuas Khoom Noj thiab Tshuaj ntawm Teb Chaws Asmeskas (FDA) tau pom zoo cov tshuaj no los kho cov qaug dab peg uas cuam tshuam nrog Dravet Syndrome rau cov neeg hnub nyoog tshaj 2 xyoos:

• Cannabidiol
• Fenfluramine
• Stiripentol

Cov tshuaj no muaj ntau hom, xws li cov tshuaj ntsiav thiab cov kua, yog li nws yooj yim rau cov menyuam yaus thiab cov neeg laus noj.

Tseem Ceeb: Koj tus kws kho mob yuav qhia koj kom tsis txhob siv qee cov tshuaj tiv thaiv kev qaug dab peg, xws li cov tshuaj sodium channel blockers xws li carbamazepine, oxcarbazepine, lamotrigine, thiab phenytoin, vim tias lawv tuaj yeem ua rau qaug dab peg hnyav dua.

Koj tus kws kho mob yuav pom zoo kom siv ntau tshaj ib yam tshuaj los tswj txhua hom mob qaug dab peg. Lub Koom Haum Thoob Ntiaj Teb Txog Kev Kuaj Mob thiab Kev Tswj Xyuas Mob Dravet Syndrome pom zoo kom sim cov tshuaj no raws li qhov kev txiav txim no:

• Kev kho mob thawj kab: Valproate
• Kev kho mob thib ob: Fenfluramine, stiripentol, lossis clobazam
• Kev kho mob thib peb: Cannabidiol
• Kev kho mob thib plaub: Topiramate, ketogenic noj zaub mov

Cov tshuaj cawm siav

Cov tshuaj no yog cov tshuaj uas muab rau thaum muaj xwm txheej ceev, xws li qaug dab peg tas li ('status epilepticus'). Koj tus menyuam tus kws kho mob yuav tsim ib 'kev npaj ua ntej rau kev qaug dab peg' rau yam yuav ua yog tias qaug dab peg tshwm sim hauv tsev lossis hauv tsev kawm ntawv. Cov tshuaj thaum muaj xwm txheej ceev no tuaj yeem tiv thaiv koj tus menyuam kom tsis txhob qaug dab peg. Cov no feem ntau yog cov tshuaj hu ua 'benzodiazepines'. Piv txwv li:

• Clonazepam (Clonazepam)
• Diazepam (Diazepam) tshuaj
• Lorazepam (Lorazepam)
• Midazolam

Cov tshuaj no muaj nyob rau hauv daim ntawv tshuaj tsuag rau qhov ntswg, daim ntawv tshuaj zawv plab, lossis ua cov ntsiav tshuaj uas yaj hauv qhov ncauj.

Yuav ua li cas thiaj paub tias tus menyuam uas muaj Dravet Syndrome yuav muaj mob dab tsi?

Tsuas yog koj tus kws kho mob thiaj li muab tau cov ntaub ntawv tseeb txog koj tus menyuam txoj kev xav, vim nws txawv ntawm ib tus neeg mus rau ib tus neeg. Koj tus menyuam yuav muaj qaug dab peg ntev thiab nquag qaug. Txawm li cas los xij, thaum koj tus menyuam loj hlob tuaj, tus lej thiab lub sijhawm ntawm cov qaug dab peg no yuav txo qis. Txawm hais tias cov tshuaj tuaj yeem txo tus lej thiab qhov hnyav ntawm qaug dab peg, lawv tsis tuaj yeem tshem tawm tag nrho cov qaug dab peg rau ib tus neeg uas muaj Dravet Syndrome.

Koj tuaj yeem cia siab tias koj tus menyuam yuav siv sijhawm ntev dua li lwm tus menyuam hnub nyoog li lawv kom ncav cuag cov theem tseem ceeb ntawm kev loj hlob. Lawv kuj tseem yuav xav tau kev pab ntxiv ntawm tsev kawm ntawv. Txawm li cas los xij, lawv yuav kawm qeeb qeeb thaum lawv loj hlob tuaj.

Pab neeg kho mob ntawm koj tus menyuam yuav xa koj mus rau ntau tus kws tshwj xeeb los kho cov teeb meem uas tshwm sim thaum koj tus menyuam loj hlob. Piv txwv li, tus kws kho mob ko taw tuaj yeem pab daws cov teeb meem kev taug kev los ntawm kev hnav khau tshwj xeeb (orthotics). Los yog, tus kws phais pob txha tuaj yeem pab daws cov teeb meem kev taug kev lossis cov mob xws li scoliosis.

Puas muaj kev kho kom zoo tag nrho rau qhov no?

Tam sim no tsis muaj tshuaj kho tau Dravet Syndrome. Tsis tas li ntawd xwb, vim nws yog ib yam mob uas los ntawm noob caj noob ces, tsis muaj ib txoj hauv kev los tiv thaiv nws. Txawm li cas los xij, kev tshawb fawb tseem tab tom ua mus. Kev sim tshuaj kho mob ntawm cov noob caj noob ces tau pom tias muaj txiaj ntsig zoo thaum pib.

Lub neej cia siab ntawm ib tug menyuam uas muaj Dravet Syndrome yog dab tsi?

Cov neeg uas muaj tus mob Dravet Syndrome muaj feem yuav tuag ntxov los ntawm SUDEP (kev tuag tam sim ntawd vim yog qaug dab peg), status epilepticus (kev qaug dab peg tas mus li), lossis kev raug mob uas tshwm sim thaum qaug dab peg. Txawm li cas los xij, feem ntau cov neeg uas muaj tus mob no yuav ciaj sia mus txog thaum laus.

Vim tias koj tus menyuam tus mob tej zaum yuav lossis tsis phim cov ntaub ntawv teev tseg, koj tus menyuam tus kws kho mob tuaj yeem muab cov ntaub ntawv tseeb tshaj plaws rau koj txog yam koj yuav xav tau.

Thaum twg koj yuav tsum mus ntsib kws kho mob?

Yog koj tus menyuam muaj ob lossis ntau dua qhov qaug dab peg uas kav ntev tshaj tsib feeb, tshwj xeeb tshaj yog tias lawv yog los ntawm kub taub hau, ua ntej lawv muaj ib xyoos, qhia rau koj tus kws kho mob. Qhov no yuav yog ib qho cim ntawm Dravet Syndrome.

Tom qab koj kuaj pom tias koj muaj Dravet Syndrome, koj yuav tsum tau mus ntsib pab pawg kws kho mob ntawm koj tus menyuam tsis tu ncua. Yog tias koj pom tias koj tus menyuam qaug dab peg zuj zus tuaj (ntau zaus dua, ntev dua) tom qab pib kho mob, qhia rau koj tus kws kho mob.

Koj tus kws kho mob yuav qhia koj txog cov cim thiab cov tsos mob uas yuav tsum tau saib xyuas thaum muaj xwm txheej ceev, thiab yuav ua li cas thaum muaj xwm txheej ceev. Cov tsos mob uas xav tau kev kho mob thaum muaj xwm txheej ceev suav nrog:

• Qaug dab peg uas kav ntev tshaj tsib feeb thiab ua rau ua pa nyuaj.
• Muaj ntau zaus qaug dab peg sib law liag, tab sis tus me nyuam tsis nco qab lawm thaum qaug dab peg.
• Kev qaug dab peg ua rau raug mob lub cev.

Kuv nkag siab tias nws txaus ntshai npaum li cas thaum pom koj tus menyuam muaj qaug dab peg. Txawm hais tias nws mob heev los, nws tsis yooj yim paub tias qee yam zoo li ntawd yuav tshwm sim dua ib hnub twg. Qhov no yog qhov tseeb ntawm kev nyob nrog Dravet Syndrome.

Txawm li cas los xij, pab pawg kho mob ntawm koj tus menyuam yuav ua haujlwm nrog koj kom nkag siab txog yam yuav tshwm sim thaum muaj qaug dab peg. Lawv kuj tseem yuav qhia koj yuav ua li cas los tsim ib txoj kev npaj ua haujlwm qaug dab peg. Kev paub tias yuav tiv tauj leej twg thiab cov peev txheej twg yuav siv thaum muaj xwm txheej ceev tuaj yeem ua rau koj muaj kev thaj yeeb nyab xeeb.

Kev kho mob tuaj yeem txo qhov zaus thiab qhov hnyav ntawm qaug dab peg. Vim tias koj tus menyuam yuav xav tau kev kho mob mus tas li, nws yuav paub nws cov kws kho mob zoo. Yog tias koj muaj lus nug dab tsi, tsis txhob yig nug koj tus menyuam pab pawg kho mob.

Thaum kawg, nco ntsoov (Cov Lus Coj Mus Tsev)

Dravet Syndrome yog ib yam mob qaug dab peg uas tsis tshua muaj thiab nyuaj rau cov menyuam yaus. Nws yog qhov nkag siab tau tias yuav muaj kev ntshai thiab kev ntxhov siab ntau thaum koj hnov ​​​​txog nws.

Qhov tseem ceeb tshaj plaws yog kom paub cov tsos mob sai sai thiab nrhiav kev kho mob thiab kev kho mob kom zoo.

• Yog tias koj tus me nyuam muaj qaug dab peg ntev nrog rau kub taub hau, tsis txhob ncua sijhawm nrog kws kho mob tham txog qhov ntawd.
• Nyob nrog tus mob no yog ib qho kev cov nyom, tab sis koj tsis yog tib leeg xwb. Koj tuaj yeem nrhiav tau ntau yam kev txhawb nqa los ntawm cov kws kho mob, cov kws kho mob hlwb, thiab lwm cov niam txiv uas tau muaj kev paub zoo sib xws.
• Kev kho mob thiab kev tshawb fawb txuas ntxiv mus zoo dua, yog li ntawd tsis txhob tso tseg kev cia siab.

Thov kom koj nrhiav tau lub zog los muab kev saib xyuas zoo tshaj plaws rau koj tus menyuam!

Dravet Syndrome, qaug dab peg, qaug dab peg, kev hloov pauv caj ces, menyuam yaus, cov kab mob ntawm lub paj hlwb, SCN1A