Koj tus menyuam puas muaj cov tsos mob no? Cia peb kawm txog Smith-Magenis Syndrome!

Puas muaj tej lub sij hawm koj muaj lus nug me ntsis txog koj tus me nyuam txoj kev loj hlob thiab tus cwj pwm? Muaj qee yam mob uas tsis tshua muaj, tab sis tseem ceeb uas tuaj yeem cuam tshuam rau lub neej ntawm peb cov menyuam. Hnub no, peb yuav tham txog ib qho mob uas ntau tus neeg tsis tau hnov ​​​​​​txog, tab sis nws tsim nyog paub txog. Qhov no hu ua Smith-Magenis Syndrome.

Smith-Magenis Syndrome yog dab tsi tiag?

Hais yooj yim xwb, tus mob Smith-Maginnis yog ib qho mob uas cuam tshuam rau ntau qhov ntawm lub cev ntawm tus menyuam. Nws feem ntau ua rau muaj kev tsis taus ntawm lub hlwb, uas yog kev tsis taus ntawm kev kawm. Tsis tas li ntawd xwb, cov menyuam no yuav muaj cov yam ntxwv tshwj xeeb ntawm lub ntsej muag, teeb meem kev coj cwj pwm, thiab tshwj xeeb tshaj yog teeb meem kev pw tsaug zog.

Xav txog seb, peb lub cev muaj cov cell me me. Cov cell no muaj ib yam dab tsi zoo li ib phau ntawv qhia, uas yog peb cov DNA. Peb cov noob caj noob ces khaws cia rau hauv qee qhov ntawm DNA no hu ua chromosomes. Smith-Magnis syndrome tshwm sim thaum ib daim me me ntawm chromosome uas nqa ib qho noob caj noob ces tseem ceeb raug tshem tawm ntawm DNA thaum pib xeeb tub. Qhov no yog qhov cuam tshuam rau ntau yam haujlwm ntawm lub cev.

Leej twg thiaj muaj tau tus mob no? Nws tshwm sim ntau npaum li cas?

Tus mob Smith-Magenis Syndrome no muaj feem cuam tshuam rau txhua tus neeg. Feem ntau nws tshwm sim thaum cev xeeb tub, thaum lub qe ntawm leej niam thiab cov noob ntawm leej txiv sib koom ua ke, thiab muaj kev hloov pauv ntawm cov noob caj noob ces (kev hloov pauv ntawm tus kheej lossis "de novo" mutation). Qhov no txhais tau tias feem ntau, tsis muaj leej twg hauv tsev neeg tau muaj tus mob no ua ntej.

Tiam sis, tsis tshua muaj, uas yog, tsis tshua muaj, ib tug me nyuam tuaj yeem tau txais qhov mob no los ntawm lawv niam lawv txiv. Koj paub li cas? Qee zaum, txawm tias ib tug ntawm lawv niam lawv txiv tsis muaj tsos mob, tsuas yog lawv cov qe poj niam txiv neej (qe lossis phev) thiaj li muaj qhov kev hloov pauv caj ces no. Lwm cov qe hauv lub cev tsis muaj qhov kev hloov pauv no. Qhov no hu ua germline mosaicism. Tab sis qhov no tsis tshua muaj.

Xav txog qhov mob no feem ntau tshwm sim, Smith-Maginnis syndrome cuam tshuam txog li ib tus neeg ntawm txhua 15,000 txog 25,000 tus neeg thoob ntiaj teb. Qhov no txhais tau tias nws yog ib qho mob tsis tshua muaj.

Cov tsos mob ntawm qhov no yog dab tsi? Koj puas piav qhia me ntsis tau?

Cov tsos mob ntawm Smith-Magenis Syndrome yuav txawv ntawm ib tug me nyuam mus rau ib tug me nyuam, thiab lawv qhov hnyav yuav txawv ntawm qhov me me mus rau qhov hnyav heev. Cov tsos mob no cuam tshuam rau ntau yam kab mob hauv lub cev ntawm tus me nyuam.

Cov yam ntxwv ntawm kev txawj ntse thiab lub cev

• Kev tsis taus ntawm lub hlwb: Qhov no yog ib qho tseem ceeb. Tej zaum yuav muaj qee qhov kev ncua sijhawm lossis teeb meem hauv tej yam xws li kev kawm thiab kev nkag siab.
• Qis dua: Tej zaum yuav luv dua li lwm cov menyuam yaus uas muaj hnub nyoog zoo ib yam.
• Scoliosis: Ib qho curvature sideways ntawm tus txha nraub qaum tuaj yeem pom.
• Txo qhov mob lossis kub taub hau: Qee tus menyuam yuav tsis hnov ​​mob lossis kub lossis txias npaum li lwm tus.
• Lub suab qis los yog qis: Tej zaum yuav muaj kev hloov pauv hauv lub suab.
• Teeb meem hnov ​​lus thiab/lossis pom kev: Tej zaum yuav muaj teeb meem hnov ​​lus tsis zoo, pom kev tsis zoo (piv txwv li, yuav tsum hnav tsom iav).
• Qhov hnyav nce ntau dhau: Qhov hnyav ntawm lub cev tuaj yeem nce ntxiv yam tsis tsim nyog, tshwj xeeb tshaj yog thaum lub hnub nyoog hluas.

Cov tsos mob uas pom tau thaum lub sijhawm tseem yau

Qee cov tsos mob yuav tshwm sim txawm tias thaum tseem yog menyuam yaus:

• Cov leeg nqaij tsis muaj zog / 'hypotonia': Tus menyuam lub cev yuav zoo li qaug zog me ntsis.
• Kev loj hlob qeeb: Tej yam ua ub ua no uas tsim nyog rau hnub nyoog xws li tsa lub taub hau, dov, thiab zaum yuav raug ncua.
• Cov kev xav tsis zoo: Qee cov kev teb tsis siv neeg yuav raug cuam tshuam.
• Cov teeb meem ntawm kev pub mis: Tus menyuam yuav muaj teeb meem nqus lossis nqos.
• Quaj ntau zaus: Tej zaum yuav quaj ntau zaus dua li lwm tus menyuam mos.
• Pw tsaug zog ntev thiab qaug zog thaum nruab hnub.

Cov yam ntxwv tshwj xeeb ntawm lub ntsej muag

Cov menyuam yaus uas muaj tus mob Smith-Maginnis muaj ntau yam ntxwv ntawm lub ntsej muag . Cov no feem ntau pom tseeb thaum tus menyuam loj me ntsis, thaum nws tseem yog menyuam yaus nruab nrab.

• Lub ntsej muag zoo li lub plaub fab
• Puab puab puv nkaus
• Qhov muag poob qis
• Lub qhov ncauj nqes mus rau hauv qab / lub ntsej muag ntsej muag
• Ib lub choj ntswg tiaj tiaj
• Qhov tawm ntawm lub puab tsaig qis, uas yog, lub puab tsaig, yog tawm me ntsis.

Vim yog lub ntsej muag zoo li no, qee tus menyuam kuj tseem yuav muaj teeb meem hniav.

Teeb meem pw tsaug zog

Qhov no yog ib qho kev cov nyom rau ntau tus niam txiv. Cov menyuam mos, cov menyuam yaus, thiab cov neeg laus uas muaj tus kab mob Smith-Maginnis muaj ntau yam teeb meem pw tsaug zog .

• Nyuaj siab tsaug zog thiab pw tsaug zog tas li.
• Xav tias tsaug zog heev thaum nruab hnub.
• Nquag sawv ntxov thaum hmo ntuj.

Nws tau pom tias cov kev hloov pauv no hauv cov qauv pw tsaug zog muaj feem cuam tshuam nrog kev hloov pauv hauv cov qauv tso tawm ntawm cov tshuaj hormone melatonin, uas tswj kev pw tsaug zog, hauv peb lub cev.

Cov yam ntxwv ntsig txog kev xav thiab kev coj cwj pwm

Qee cov yam ntxwv tshwj xeeb kuj tuaj yeem pom hauv cov kev xav thiab tus cwj pwm ntawm cov menyuam no:

• Tus cwj pwm hlub tshua heev: Muaj peev xwm coj tus cwj pwm hlub tshua heev.
• Khawm koj tus kheej: Koj feem ntau pom koj khawm koj tus kheej.
• Kev chim siab lossis kev tawg ua ntau zaus.
• Kev coj cwj pwm ua phem: Tej yam xws li ua phem rau tus kheej (piv txwv li, tom tes/dab teg, ntaus taub hau) lossis ntaus lwm tus.

Qee zaum, cov menyuam no kuj tseem yuav muaj lwm yam mob uas cuam tshuam nrog kev coj cwj pwm, xws li ADHD (Attention-Deficit/Hyperactivity Disorder) lossis Autism Spectrum Disorder .

Cov tsos mob hnyav tsis tshua pom

Muaj tej zaum yuav muaj tej yam mob hnyav heev uas tsis tshua muaj, xws li lub plawv thiab lub raum ua haujlwm tsis zoo, thiab kuj yuav ua rau tus menyuam qaug dab peg thiab.

Vim li cas thiaj muaj tus mob Smith-Magenis Syndrome? Dab tsi yog qhov ua rau?

Qhov ua rau muaj tus mob no yog kev hloov pauv hauv peb lub cev caj ces. Yog hais kom meej, muaj ib tug noob hu ua 'RAI1' ('retinoic acid-induced 1 gene') , thiab kev hloov pauv hauv cov noob ntawd yog qhov ua rau muaj qhov no. Cov noob 'RAI1' no yog lub luag haujlwm tsim cov protein uas qhia cov hlwb hauv peb lub cev kom ua ntau yam haujlwm. Txawm hais tias cov noob no tseem tsis tau nkag siab tag nrho, kev tshawb fawb qhia tau tias cov noob no yog qhov tseem ceeb rau kev loj hlob thiab kev ua haujlwm ntawm ntau qhov ntawm lub cev ntawm tus menyuam. Yog vim li cas cov tsos mob ntawm tus mob no thiaj li kis tau dav heev.

Feem ntau, uas yog , kwv yees li 90% ntawm cov menyuam uas muaj tus kab mob Smith-Maginnis, ib feem ntawm caj npab luv (p) ntawm chromosome 17 (chromosome 17) uas muaj RAI1 gene ploj lawm (kev rho tawm) (ntawm qhov chaw 17p11.2). Qhov kev rho tawm no tshwm sim yam tsis tau npaj tseg lossis de novo, uas yog, thaum niam lub qe thiab txiv cov phev sib koom ua ke thaum lub sijhawm xeeb tub.

Tsis tshua muaj, cov ntu chromosome tuaj yeem tawg thiab txav mus los (translocation) thaum lub sijhawm ntxov ntawm kev loj hlob ntawm tus menyuam. Hauv 10% ntawm cov menyuam uas tseem tshuav, es tsis txhob ploj ntawm RAI1 gene, kev hloov pauv tshwm sim hauv gene nws tus kheej . Qhov no ua rau muaj kev hloov pauv hauv tus menyuam cov qauv DNA ntawm qhov chaw tshwj xeeb ntawd.

Yuav kuaj mob li cas? (Kev kuaj mob)

Feem ntau tus mob Smith-Magenis Syndrome no raug kuaj pom thaum nws tseem yog menyuam yaus, thaum cov tsos mob pom tseeb dua. Tus kws kho mob ntawm koj tus menyuam yuav nug koj txog cov tsos mob ntawm koj tus menyuam, sau keeb kwm kev mob nkeeg tag nrho, thiab kuaj koj tus menyuam.

Kev kuaj ntshav los ntawm noob caj ces yog qhov tseem ceeb heev kom paub meej tias muaj tus mob no thiab tshem tawm lwm yam mob uas muaj cov tsos mob zoo sib xws.

Cov kev kho mob rau Smith-Magenis Syndrome yog dab tsi?

Kev kho mob rau tus mob no tsom mus rau kev txo cov tsos mob ntawm tus menyuam thiab pab kom lawv nyob tau zoo li qub. Cov kev kho mob yuav txawv ntawm ib tus menyuam mus rau ib tus menyuam.

Nov yog qee cov kev kho mob uas feem ntau siv:

• Xa tus menyuam mus rau cov kev pab cuam thaum ntxov ua ntej hnub nyoog 3 xyoos thiab cov kev pab cuam kev kawm tom qab hnub nyoog 3 xyoos. Cov no pab tus menyuam kov yeej cov theem kev loj hlob thiab kev kawm.
• Txhawb kom tus menyuam koom nrog hauv tsev thiab hauv zej zog.
• Tau txais kev kho mob sab nraud . Piv txwv li:
• Kev kho mob hais lus
• Kev kho mob tus cwj pwm
• Kev kho lub cev
• Kev kho mob ua haujlwm
• Muab tshuaj rau cov tsos mob ntawm lwm yam mob uas muaj nyob ua ke, xws li ADHD lossis teeb meem pw tsaug zog.
• Hnav tsom iav rau cov teeb meem pom kev.
• Kev phais muab cov raj pob ntseg tso rau kom tiv thaiv kev kis kab mob pob ntseg thiab saib xyuas kev hnov ​​​​​​lus tsis zoo.
• Noj zaub mov kom noj qab nyob zoo thiab sib npaug thiab tawm dag zog tsis tu ncua kom tswj tau qhov hnyav.

Koj tus menyuam tus kws kho mob yuav tsim ib txoj kev npaj kho mob rau koj tus kheej uas haum rau koj tus menyuam cov kev xav tau.

Pawg kho mob

Vim tias cov menyuam no muaj cov tsos mob uas cuam tshuam rau ntau qhov ntawm lawv lub cev, kev kho mob yuav xav tau ib pab pawg kws kho mob thiab cov kws tshaj lij kev noj qab haus huv sib txawv . Pab pawg no yuav suav nrog:

• Kws kho mob menyuam yaus thiab lwm tus kws kho mob menyuam yaus
• Kws phais mob (yog tias tsim nyog)
• kws kho qhov muag
• kws kho mob pob ntseg
• Kws Kho Mob Hlwb
• Kws noj haus
• kws kho mob hais lus
• Kws kho mob ua haujlwm thiab kws kho lub cev

Puas yog Melatonin pab tau cov teeb meem pw tsaug zog?

Melatonin yog ib yam tshuaj hormones uas peb lub cev tsim tawm los pab peb tsaug zog. Cov tshuaj Melatonin pab tau koj tus menyuam tsaug zog thiab tswj lawv lub voj voog pw tsaug zog. Yog tias koj tus menyuam muaj teeb meem pw tsaug zog vim yog Smith-Magnis syndrome, nrog koj tus kws kho mob tham txog kev muab melatonin rau lawv ua ntej pw kom pab lawv tsaug zog zoo. Tab sis tsis txhob pib ua dab tsi yam tsis tau nug koj tus kws kho mob ua ntej, puas yog?

Puas tiv thaiv tau qhov teeb meem no?

Tu siab kawg li, Smith-Magenis Syndrome tsis tuaj yeem tiv thaiv tau.Vim qhov no yog ib qho mob caj ces, kev hloov pauv hauv DNA ntawm tus menyuam tshwm sim yam tsis tau npaj tseg thiab tsis tau kwv yees ua ntej. Txawm li cas los xij, muaj ntau yam kev kho mob, kev siv lub cev, thiab kev coj cwj pwm uas tuaj yeem pab tus menyuam tswj cov tsos mob thiab ua neej nyob puv npo.

Yog tias kuv tus menyuam muaj tus mob no, kuv yuav cia siab li cas? (Kev kwv yees)

Yog ib tug me nyuam muaj tus mob Smith-Maginnis syndrome, qhov kev kwv yees yuav zoo li cas nyob ntawm seb cov tsos mob hnyav npaum li cas. Ib txhia neeg uas muaj tus mob no tuaj yeem nyob tau ywj siab nrog kev txhawb nqa tsawg los ntawm tsev neeg, phooj ywg, thiab cov neeg saib xyuas. Lawv kuj tuaj yeem ua neej nyob tau ib txwm.

Txawm li cas los xij, tej zaum yuav muaj ib txhia menyuam yaus xav tau kev pab ntau dua thoob plaws lawv lub neej. Tej zaum lawv yuav zoo dua yog lawv nyob hauv ib pawg neeg lossis hauv zej zog saib xyuas neeg mob. Lawv yuav xav tau kev tswj cov tsos mob thiab kev saib xyuas tiv thaiv mus tas li kom pab tus menyuam muaj lub neej noj qab nyob zoo thiab txaus siab.

Puas kho tau Smith-Magenis Syndrome kom zoo tag nrho?

Tsis yog, Smith-Magenis Syndrome tsis tuaj yeem kho tau tag nrho vim nws yog los ntawm kev hloov pauv tsis tu ncua hauv tus menyuam DNA. Txawm li cas los xij, pab pawg kho mob ntawm koj tus menyuam yuav muab cov kev xaiv kho mob rau tus kheej los pab tswj cov tsos mob thoob plaws lawv lub neej.

Koj yuav tsum mus ntsib kws kho mob thaum twg?

Yog koj tus menyuam muaj cov tsos mob no, mus ntsib kws kho mob tam sim ntawd:

• Yog tus me nyuam ua phem rau nws tus kheej lossis ua nruj ua tsiv heev.
• Yog tias tsis nco qab txog cov ntsiab lus tseem ceeb ntawm kev loj hlob raws li hnub nyoog.
• Yog tias koj muaj kev ntxhov siab lossis kev tsis taus ntxiv hauv tsev thiab/lossis tsev kawm ntawv.
• Yog tias koj pw tsis tsaug zog thaum hmo ntuj lossis muaj teeb meem pw tsaug zog thaum nruab hnub.

Thaum twg koj yuav tsum mus rau Chav Kho Mob Thaum Muaj Xwm Ceev (ETU) ?

Mus rau chav kho mob ceev tam sim ntawd hauv qhov xwm txheej no:

• Yog tias tus txiv neej muaj kev qaug dab peg.
• Yog tias lub plawv dhia tsis xwm yeem.
• Yog tias tus me nyuam tsis noj mov los yog zoo li qhuav dej.

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

Thaum koj mus ntsib kws kho mob, koj tuaj yeem nug cov lus nug zoo li no:

• Kuv yuav tsum txhawb nqa kuv tus menyuam li cas?
• Kuv yuav tsum ua li cas yog tias kuv tus menyuam tsis tau ua tiav cov hom phiaj tseem ceeb ntawm kev loj hlob?
• Kuv yuav tsum paub txog cov tsos mob twg?
• Kuv yuav tiv thaiv kuv tus menyuam li cas thaum nws chim siab?
• Puas muaj tej yam tshwm sim tsis zoo rau cov kev kho mob uas pom zoo?

Thaum kawg, Ib Zaj Lus Qhia Txog Kev Mus Tsev

Kev nrhiav pom tias koj tus menyuam muaj tus mob no tuaj yeem ua rau koj ntxhov siab heev. Nws yog ib qho zoo li qub. Koj tsis nyob ib leeg xwb. Kev koom nrog cov pab pawg txhawb nqa uas cov niam txiv thiab cov neeg saib xyuas cov menyuam uas muaj tus mob no tuaj ua ke tuaj yeem muab lub zog, cov ntaub ntawv, thiab kev sib qhia txog kev paub dhau los rau koj.

Txawm hais tias tsis muaj kev kho rau Smith-Magenis Syndrome los xij, muaj kev txhawb nqa mus tas li los pab koj tus menyuam kom ua tiav lawv lub peev xwm thiab tswj hwm lawv cov tsos mob. Pab neeg kho mob ntawm koj tus menyuam yuav coj koj hla qhov no. Tsis txhob tso tseg!

` Smith-Magenis Syndrome, Smith-Magenis Syndrome, kab mob caj ces, kev loj hlob qeeb, teeb meem kev coj cwj pwm, teeb meem pw tsaug zog, RAI1 gene