Koj tus ntxhais puas muaj teeb meem kev loj hlob? Peb puas yuav tham txog Rett Syndrome?

Koj tus me nyuam, tshwj xeeb yog ib tug ntxhais, tej zaum yuav tau pom qee qhov kev loj hlob qeeb lossis nyuaj ua tej yam uas lawv tau ua yav dhau los. Xav txog, ib tug me nyuam uas ua tau zoo li rau lub hlis mam li tso tseg kawm tej yam tshiab thiab txawm tias tsis nco qab tej yam uas lawv tau kawm ua ntej. Nws yog ib qho ib txwm muaj rau ib tug niam lossis txiv ntshai thiab txhawj xeeb heev thaum lawv pom ib yam dab tsi zoo li no. Hnub no peb yuav tham txog ib qho mob uas tsis tshua muaj, tab sis tseem ceeb uas yuav tsum paub, uas feem ntau cuam tshuam rau cov ntxhais. Qhov no yog qhov peb hu ua Rett Syndrome .

Rett Syndrome yog dab tsi? Hais yooj yim xwb...

Hais yooj yim xwb, Rett Syndrome yog ib qho mob caj ces thiab mob hlwb uas tsis tshua muaj. Nws feem ntau cuam tshuam rau cov ntxhais. Nws yog tshwm sim los ntawm ib qho kev hloov pauv caj ces hauv peb lub cev, tshwj xeeb yog ib qho caj ces hu ua 'MECP2'. Cov caj ces 'MECP2' no ua lub luag haujlwm tseem ceeb heev hauv kev loj hlob ntawm peb lub hlwb thiab kev sib pauv cov ntaub ntawv ntawm cov hlwb paj hlwb, uas yog, kev sib txuas ntawm cov hlwb paj hlwb (synapse) . Yog li, thaum muaj kev hloov pauv hauv cov caj ces no, nws cuam tshuam rau kev loj hlob ntawm tus menyuam lub hlwb.

Hauv qhov xwm txheej no, ob peb lub hlis thawj zaug ntawm tus menyuam lub neej, feem ntau txog li 6 lub hlis, loj hlob zoo li lwm tus menyuam. Lawv ua tej yam uas tsim nyog rau lawv lub hnub nyoog, xws li nkag, luag nyav, thiab txav lawv txhais tes. Txawm li cas los xij, tom qab li 6 lub hlis, tus menyuam pib poob cov txuj ci thiab peev xwm uas lawv tau kawm ua ntej. Piv txwv li, lub peev xwm tuav ib qho khoom ua si nrog ob txhais tes, co tes rau lawv niam, thiab hais lus txo qis. Cov tsos mob no tshwm sim ntawm ntau theem thaum tus menyuam loj hlob. Txawm li cas los xij, ib qho uas yuav tsum nco ntsoov yog tias txawm hais tias cov tsos mob no tsis zuj zus tuaj (nce mus) dhau sijhawm, lawv tsis ploj mus tag. Yog li ntawd, cov menyuam no xav tau kev saib xyuas tshwj xeeb thiab kev txhawb nqa thoob plaws hauv lawv lub neej.

Cov tsos mob ntawm Rett Syndrome yog dab tsi?

Raws li tau hais ua ntej lawm, ib tug me nyuam tuaj yeem loj hlob li qub txog thaum muaj hnub nyoog li 6 lub hlis. Cov cim qhia thawj zaug ntawm Rett Syndrome yog kev loj hlob qeeb . Qhov no txhais tau tias tus me nyuam ua tej yam uas tsim nyog rau lawv lub hnub nyoog lig, piv txwv li, tsis nkag thaum lwm tus me nyuam nkag, co tes, lossis pib tham.

Thaum tus me nyuam loj hlob tuaj, cov cim qhia txog kev loj hlob qeeb zuj zus, uas qhov kev kawm tau ploj mus dua, pom tseeb dua.

Cov tsos mob uas cuam tshuam rau tus menyuam cov leeg nqaij, kev txav mus los, thiab tus cwj pwm:

• Teeb meem nrog kev sib npaug thiab kev sib koom tes thaum taug kev: Nyuaj rau sawv thiab taug kev. Tej zaum yuav ntog ntau zaus.
• Qhov nyuaj hais lus:Nws nyuaj rau hais lus thiab qhia tawm cov tswv yim. Tej zaum qee tus menyuam yuav tsis hais lus tau kiag li.
• Nyuaj nqos lossis zom zaub mov: Qhov no tuaj yeem ua rau tus menyuam tsis tau txais cov khoom noj khoom haus tsim nyog, poob phaus, thiab tsis muaj zaub mov zoo .
• Cov leeg nqaij tsis muaj zog lossis tawv (spasticity): tsis muaj peev xwm tswj cov ceg tawv kom zoo.
• Nyuaj ua cov kev txav uas koj ib txwm ua thaum koj hais kom ua (apraxia): Piv txwv li, ua tsis tau thaum koj hais kom "co tes," tab sis qee zaum koj tuaj yeem co tes thaum koj sawv ntsug.
• Kev txav tes rov ua dua: Kev txav tes rov ua dua xws li kev zawm, kev zawm, thiab kev npuaj tes yog cov yam ntxwv ntawm tus kab mob no.

Lwm cov tsos mob:

• Teeb meem pw tsaug zog: Tsis tsaug zog zoo thaum hmo ntuj, sawv ntau zaus.
• Teeb meem ntawm lub cev zom zaub mov: tej yam xws li reflux thiab cem quav .
• Kev tsis taus ntawm lub hlwb: Tej zaum yuav txo tau lub peev xwm kawm.
• Tsis tshua muaj kev ntxhov siab thiab kev chim siab.
• Scoliosis: Tus txha nqaj qaum nkhaus mus rau sab.
• Kev loj hlob qeeb: Tej yam xws li qhov siab thiab qhov hnyav nce yuav qeeb dua li lwm tus menyuam.

Cov tsos mob uas qee zaum tuaj yeem ua rau tuag taus muaj xws li:

• Ua pa nyuaj: Ua pa tsis xwm yeem, ua pa tsis taus, thiab lwm yam.
• Lub plawv dhia tsis xwm yeem.
• Qaug dab peg.

Cov menyuam yaus uas muaj Rett Syndrome puas muaj cov yam ntxwv tshwj xeeb ntawm lub ntsej muag?

Cov menyuam yaus uas muaj Rett Syndrome yuav muaj lub taub hau me dua li lwm qhov ntawm lawv lub cev. Qhov no hu ua microcephaly . Qhov no tuaj yeem ua rau cov yam ntxwv ntawm lub ntsej muag pom tseeb me ntsis. Txawm li cas los xij, tsis muaj cov yam ntxwv ntawm lub ntsej muag tshwj xeeb uas tshwj xeeb rau qhov teeb meem no, xws li "qhov no yog qhov zoo li lub ntsej muag."

Qee zaum cov tsos mob ntawm Rett Syndrome yuav zoo ib yam li lwm yam mob hu ua Angelman Syndrome . Ob qho mob no muaj tej yam zoo sib xws, xws li teeb meem hais lus thiab kev sib txuas lus, kev loj hlob qeeb, qaug dab peg, thiab teeb meem pw tsaug zog. Txawm li cas los xij, Angelman Syndrome muaj cov yam ntxwv tshwj xeeb ntawm lub ntsej muag, xws li qhov muag tob tob, lub qhov ncauj dav, thiab qhov sib nrug loj ntawm cov hniav. Rett Syndrome tsis muaj cov yam ntxwv tshwj xeeb ntawm lub ntsej muag no.

Cov Theem ntawm Rett Syndrome

Tus mob no yuav dhau mus rau ntau theem thaum ib tug me nyuam loj hlob. Txhua theem, tus me nyuam yuav muaj cov tsos mob sib txawv. Txawm li cas los xij, tsis yog txhua tus me nyuam yuav dhau mus rau txhua theem no tib yam. Piv txwv li, qee tus me nyuam uas muaj Rett Syndrome yuav tsis taug kev tau.

Cov Theem ntawm Rett Syndrome:

1. Theem I - Theem pib ntxov: Qhov no pib ntawm 6 thiab 18 lub hlis. Tus menyuam txoj kev loj hlob qeeb zuj zus. Piv txwv li, kev nkag mus qeeb zuj zus, thiab lub peev xwm los saib ncaj qha rau leej niam txo qis. Tus menyuam cov leeg nqaij yuav tsis khov kho ( cov leeg nqaij qis ), thiab yuav muaj teeb meem noj mov.

2. Theem Ob - Theem nce zuj zus sai: Qhov no feem ntau tshwm sim ntawm hnub nyoog 1 thiab 4 xyoos. Tus menyuam yuav poob peev xwm hais lus thiab siv lawv txhais tes. Lawv yuav tuav lawv lub nrig ntau zaus. Qee tus menyuam kuj tseem yuav muaj tus cwj pwm zoo ib yam li cov menyuam uas muaj Autism Spectrum Disorder, xws li tsis muaj kev txaus siab rau kev sib raug zoo hauv zej zog.

3. Theem III - Qib Siab lossis theem ruaj khov ib ntus: Qhov no feem ntau tshwm sim ntawm hnub nyoog 2 thiab 10 xyoo. Qee cov tsos mob uas hnyav heev hauv theem thib ob, piv txwv li, kev txawj sib txuas lus thiab kev txawj txav mus los, yuav zoo dua me ntsis. Lawv yuav qhia tias lawv xav rov qab mus rau hauv zej zog dua. Qaug dab peg yog ib qho tshwm sim thaum lub sijhawm no.

4. Theem IV - Kev qaug zog ntawm lub cev tom qab: Qhov no tuaj yeem tshwm sim txhua lub sijhawm tom qab Theem III. Tus menyuam yuav poob peev xwm taug kev thiab lub zog ntawm cov leeg nqaij. Txawm li cas los xij, tus menyuam txoj kev sib txuas lus thiab kev xav yuav tsum txuas ntxiv mus rau theem no.

Dab tsi yog cov ua rau muaj Rett Syndrome?

Feem ntau tus kab mob Rett Syndrome no yog los ntawm ib qho kev hloov pauv ntawm cov noob caj noob ces hu ua 'MECP2'. Raws li kuv tau hais ua ntej lawm, cov noob caj noob ces no qhia kom tsim cov protein hu ua 'MECP2'. Cov protein no pab tswj cov kev sib txuas (synapses) ntawm cov hlwb paj hlwb thiab pab tus menyuam lub hlwb ua haujlwm kom zoo.

Txawm li cas los xij, tsis yog txhua tus neeg mob Rett Syndrome muaj feem cuam tshuam nrog MECP2 gene. Qee qhov kev hloov pauv ntawm cov noob caj noob ces (piv txwv li, kev tshem tawm) lossis kev hloov pauv hauv lwm cov noob caj noob ces, xws li CDJK5 thiab FOXG1, kuj tuaj yeem ua rau muaj cov neeg mob Rett Syndrome uas tsis zoo li qub. Qee zaum, cov tsos mob no tuaj yeem tshwm sim los ntawm cov noob caj noob ces uas tseem tsis tau txheeb xyuas.

Qhov tseem ceeb yog tias qhov kev hloov pauv caj ces no feem ntau tshwm sim yam tsis tau npaj tseg . Yog li ntawd, feem ntau nws tsis yog los ntawm niam txiv mus rau menyuam. Yog li koj tsis tas yuav xav tias txhaum ntau dhau txog nws.

Cov tub hluas puas muaj Rett Syndrome?

Feem ntau tus kab mob Rett Syndrome tsuas yog cuam tshuam rau cov ntxhais xwb. Qhov no yog vim qhov kev hloov pauv ntawm cov noob caj noob ces uas ua rau nws tshwm sim ntawm X chromosome. Raws li koj paub, tus poj niam muaj ob lub X chromosomes (XX).

Vim tias cov tub hluas muaj ib tug X chromosome thiab ib tug Y chromosome (XY), qhov mob no tsis tshua muaj. Yog tias ib tug tub hluas muaj qhov variant no ntawm nws tus X chromosome xwb, cov tsos mob yuav hnyav heev. Qhov no tuaj yeem ua rau poob lossis tuag thaum yug los.

Cov kws kho mob hu qhov mob no rau cov tub hluas tias "MECP2-related severe neonatal encephalopathy." Qhov mob no kuj tseem tuaj yeem qhia cov tsos mob zoo ib yam li Rett syndrome, xws li kev tsis taus ntawm lub hlwb, qaug dab peg, thiab teeb meem txav mus los.

Cov Teeb Meem ntawm Rett Syndrome

Ib tug me nyuam uas muaj tus mob no muaj feem yuav muaj cov teeb meem hauv qab no, qee qhov tuaj yeem ua rau tuag taus:

• Mob ntsws los ntawm kev nqus pa: Ib qho mob ntsws uas tshwm sim los ntawm zaub mov lossis dej haus nkag mus rau hauv lub ntsws.
• Kab mob qaug dab peg: Mob qaug dab peg ntau zaus.
• Kev ua haujlwm tsis zoo ntawm lub plawv: Piv txwv li, cov mob xws li Long QT syndrome .
• Teeb meem ntsws lossis ua pa nyuaj.

Cov kws kho mob kuaj mob Rett Syndrome li cas?

Tus kws kho mob kuaj pom tus mob Rett Syndrome los ntawm kev kuaj xyuas tus menyuam thiab ua cov kev kuaj mob tsim nyog. Ua ib tug niam, koj yuav xav tias muaj qee yam tsis raug thaum koj tus menyuam tsis ua tiav cov hom phiaj kev loj hlob rau lawv lub hnub nyoog, tshwj xeeb tshaj yog thaum thawj xyoo. Thaum ntawd koj yuav tsum coj koj tus menyuam mus rau kws kho mob menyuam yaus lossis koj tus kws kho mob hauv tsev neeg.

Koj tus kws kho mob yuav kuaj koj tus menyuam thiab nrhiav cov tsos mob. Tom qab ntawd, lawv yuav ua cov kev kuaj mob kom tshem tawm lwm yam mob uas yuav muaj cov tsos mob zoo sib xws. Feem ntau, qhov mob tuaj yeem lees paub los ntawm kev kuaj ntshav caj ces uas nrhiav kev hloov pauv hauv MECP2 gene. Qhov kev kuaj caj ces no tsis tas yuav tsum tau npaj tshwj xeeb lossis nyob hauv tsev kho mob.

Feem ntau kuaj mob thaum muaj hnub nyoog 6 txog 18 lub hlis, vim qhov no yog thaum cov tsos mob pib.

Vim tias Rett Syndrome yog ib yam mob tsis tshua muaj, qee zaum nws yuav nyuaj rau kev kuaj mob tam sim ntawd. Nws yuav siv sijhawm ntev rau pab pawg kho mob kom tshem tawm tag nrho lwm yam mob thiab paub tseeb tias qhov no yog qhov tseeb. Nws yuav ua rau ntxhov siab tos cov lus teb, tab sis kev kuaj mob meej tuaj yeem pab pab pawg kho mob kho koj tus menyuam cov tsos mob.

Yuav kho tus mob Rett Syndrome li cas?

Cov kev xaiv kho mob nyob ntawm tus menyuam cov tsos mob tshwj xeeb. Piv txwv li, tej zaum yuav muab tshuaj rau qaug dab peg thiab kev txav mus los tsis zoo. Yog tias tus menyuam muaj teeb meem nrog kev txawj txav mus los thiab kev txawj hais lus, tus kws kho mob yuav pom zoo cov kev kho mob xws li:

• Kev kho mob ua haujlwm: Pab ua haujlwm txhua hnub thiab txhim kho kev ua haujlwm ntawm tes.
• Kev Kho Mob Lub Cev: Pab nrog tej yam xws li kev taug kev, kev sib npaug, thiab kev ua kom cov leeg muaj zog.
• Kev Kho Mob Hais Lus: Pab txhim kho kev hais lus thiab kev sib txuas lus.

Rau cov menyuam yaus hnub nyoog 2 xyoos thiab laus dua, ib yam tshuaj hu ua Trofinetide tau pom tias muaj txiaj ntsig zoo hauv kev sim tshuaj . Nws yog thawj txoj kev kho mob uas tau pom zoo los ntawm US Food and Drug Administration (FDA) tshwj xeeb rau Rett Syndrome . Nws tsis yog kev kho mob, tab sis nws suav hais tias yog kev kho mob hloov kho kab mob. Koj yuav tsum tham txog qhov kev xaiv no nrog koj pab neeg kho mob thiab txiav txim siab ua ke.

Ntxiv rau qhov ntawd, koj tus menyuam yuav tau txais txiaj ntsig los ntawm:

• Hnav ib lub brace los yog phais rau scoliosis .
• Kev kuaj xyuas tsis tu ncua rau qhov muaj teeb meem ntawm lub plawv.
• Kev txhawb nqa kev noj haus.
• Cov kev kawm tshwj xeeb hauv tsev kawm ntawv.

Tam sim no tsis muaj kev kho rau Rett Syndrome . Txawm li cas los xij, koj tus menyuam cov kws kho mob tuaj yeem pab tswj cov tsos mob thoob plaws lawv lub neej.

Thaum twg kuv yuav tsum coj kuv tus menyuam mus ntsib kws kho mob?

Yog koj pom tias koj tus menyuam tsis tau ua tiav cov hom phiaj kev loj hlob uas tsim nyog rau nws lub hnub nyoog, tshwj xeeb tshaj yog tom qab 6 lub hlis, mus ntsib kws kho mob tam sim ntawd.

Yog tias koj tus menyuam tau kuaj pom tias muaj Rett Syndrome , yog tias lawv muaj cov kev mob tshwm sim los ntawm kev kho mob, lossis yog tias lawv muaj cov tsos mob tshiab lossis yog tias cov tsos mob uas twb muaj lawm zuj zus, qhia rau koj tus kws kho mob paub.

Lub neej ntev npaum li cas ntawm ib tug menyuam uas muaj Rett Syndrome?

Muaj coob tus neeg uas muaj tus kab mob Rett Syndrome no ua neej zoo mus txog rau thaum lawv muaj hnub nyoog 40 xyoo thiab tshaj ntawd. Yog tias cov tsos mob tsis hnyav heev, koj tus menyuam yuav muaj lub neej zoo li qub. Txawm li cas los xij, yog tias muaj teeb meem kev noj qab haus huv tshwm sim, lub neej ntev yuav luv dua.

Tus neeg zoo tshaj plaws los nug txog koj tus menyuam lub neej ntev yog lawv tus kws kho mob. Nws tuaj yeem nkag siab txog koj tus menyuam qhov xwm txheej thiab piav qhia rau koj.

Kev kwv yees ntawm Rett Syndrome

Kab mob Rett yog ib yam mob uas yuav tshwm sim mus ib txhis. Cov tsos mob ntawm txhua tus neeg txawv. Tej zaum koj tus menyuam yuav tswj tau lawv txoj kev txav mus los, taug kev, thiab sib txuas lus ntawm lawv tus kheej. Txawm li cas los xij, lawv yuav xav tau kev saib xyuas txhua lub sijhawm rau lawv lub neej.

Tsis tas li ntawd xwb, koj tus menyuam yuav tsum tau mus ntsib kws kho mob tsis tu ncua kom tswj tau cov tsos mob thiab tiv thaiv kom tsis txhob muaj teeb meem. Qee zaum ntawm Rett Syndrome, cov teeb meem tuaj yeem ua rau tuag ntxov.

Kev nrhiav pom tias koj tus menyuam muaj tus kab mob tsis tshua muaj nyob hauv lub paj hlwb tuaj yeem ua rau koj ntxhov siab heev. Tej zaum koj yuav ntxhov siab thiab tu siab uas koj tus menyuam tsis loj hlob zoo li lwm tus menyuam. Txawm hais tias koj tus menyuam lub cev yuav xav tau sijhawm thiab kev saib xyuas ntau dua thaum nws loj hlob tuaj, tsis txhob tso tseg kev cia siab. Cov kws kho mob yuav nrog koj txhua kauj ruam ntawm txoj kev los muab kev saib xyuas uas nws xav tau rau koj tus menyuam.

Cov kws tshawb nrhiav tab tom nrhiav kev kho mob tshiab uas tuaj yeem pab cov menyuam yaus uas muaj Rett Syndrome los ntawm kev sim tshuaj . Yog tias koj muaj lus nug txog koj tus menyuam txoj kev xav lossis kev kho mob, nug koj tus kws kho mob.

Tej yam tseem ceeb tshaj plaws uas yuav tsum nco ntsoov (Cov Lus Coj Mus Tsev)

Nws yog ib qho ib txwm muaj uas koj yuav xav tias ntxhov siab thaum koj pom tias koj tus menyuam muaj Rett Syndrome . Tab sis nco ntsoov cov no:

• Koj tsis yog tib leeg xwb: Muaj lwm cov niam txiv uas ntsib cov xwm txheej zoo sib xws. Cov kws kho mob, cov kws kho mob hlwb, thiab cov pab pawg txhawb nqa npaj txhij los pab koj.
• Kev kuaj pom thaum ntxov yog qhov tseem ceeb: Yog tias koj pom tias koj tus menyuam txoj kev loj hlob qeeb, nrhiav kev pab kho mob tam sim ntawd.
• Kev kho mob tuaj yeem tswj cov tsos mob: Txawm hais tias tsis muaj kev kho kom zoo tag nrho, kev kho mob thiab kev kho mob tuaj yeem txhim kho tus menyuam lub neej zoo.
• Txhua tus menyuam yaus txawv: Cov tsos mob thiab qhov cuam tshuam ntawm tus kab mob sib txawv ntawm ib tus neeg mus rau ib tus neeg. Cov kws kho mob yuav pab koj tsim ib txoj kev npaj kho mob uas zoo tshaj plaws rau koj tus menyuam.
• Nyob twj ywm muaj kev cia siab: Kev tshawb fawb kho mob tab tom nce qib thiab kev tshawb fawb tshiab tau ua, yog li nws yog ib qho tseem ceeb kom nyob twj ywm zoo.

Qhov tseem ceeb tshaj plaws yog muab kev hlub, kev saib xyuas, thiab kev kho mob kom zoo rau koj tus menyuam.

Rett Syndrome, cov kab mob caj ces, cov kab mob ntawm lub paj hlwb, kev loj hlob ntawm menyuam yaus, MECP2 gene, kev loj hlob qeeb