Koj tus menyuam puas muaj cov tsos mob no? Cia peb tham txog Phelan-McDermid Syndrome

Koj puas tau hnov ​​txog Phelan-McDermid Syndrome? Tej zaum koj tsis tau hnov ​​txog lub npe no, vim nws yog ib qho mob caj ces tsis tshua muaj. Qhov mob no tuaj yeem ua rau muaj ntau yam teeb meem kev noj qab haus huv, kev loj hlob qeeb, thiab kev hloov pauv tus cwj pwm, tshwj xeeb tshaj yog rau cov menyuam yaus. Yog li, hnub no peb yuav tham txog nws hauv txoj kev yooj yim uas koj tuaj yeem nkag siab. Tsis txhob txhawj, nws yog ib qho tseem ceeb heev kom paub cov ntaub ntawv no.

Phelan-McDermid Syndrome yog dab tsi?

Hais yooj yim xwb, Phelan-McDermid syndrome yog ib qho teeb meem caj ces uas ua rau muaj ntau yam teeb meem rau lub cev, kev txawj ntse, thiab tus cwj pwm ntawm tus menyuam. Piv txwv li:

• Nyuaj noj mov.
• Cov leeg tsis muaj zog.
• Kev qeeb hauv kev hais lus thiab lwm yam kev loj hlob.
• Muaj ib txhia menyuam yaus muaj tej yam mob zoo li Autism Spectrum Disorder.
• Qee zaum tej yam mob xws li qaug dab peg kuj tuaj yeem tshwm sim tau.

Muaj lwm lub npe rau qhov no, uas yog "22q13.3 deletion syndrome." Txawm hais tias lub npe yuav zoo li nyuaj me ntsis, cia peb tham txog qhov ntawd thiab.

Tus mob no tsawg npaum li cas?

Qhov tseeb, tus mob no hu ua Phelan-McDermid syndrome no tsis tshua muaj . Raws li cov kws tshawb fawb, nws cuam tshuam rau ntawm ob thiab kaum tus menyuam hauv ib puas txhiab tus. Txawm li cas los xij, vim tias nws nyuaj me ntsis rau kev kuaj mob, nws muaj peev xwm tias ntau tus menyuam muaj tus mob no ntau dua li qhov tau tshaj tawm. Tsuas yog ntawm 2200 thiab 2500 tus menyuam tau kuaj mob thoob ntiaj teb. Yog li koj tuaj yeem xav txog qhov no tsis tshua muaj.

Kev sib txuas ntawm Phelan-McDermid syndrome thiab autism yog dab tsi?

Qhov no yog ib qho teeb meem uas ntau tus neeg muaj. Muaj ntau tus menyuam uas muaj tus kab mob Phelan-McDermid syndrome tau pom tias muaj tus kab mob autism spectrum disorder . Cov kws tshawb fawb kwv yees tias kwv yees li 1% ntawm cov menyuam uas muaj tus kab mob autism kuj tseem yuav muaj tus kab mob Phelan-McDermid syndrome. Qhov no txhais tau tias muaj kev sib txuas ntawm ob qho no.

Vim li cas thiaj muaj Phelan-McDermid syndrome?

Zoo, tam sim no cia peb saib seb qhov no ua rau muaj dab tsi. Qhov no yog tshwm sim los ntawm kev hloov pauv ntawm cov chromosomes . Cov Chromosomes yog cov khoom me me hauv peb lub hlwb. Hauv cov no yog peb cov noob caj noob ces. Cov noob caj noob ces zoo li ib pawg lus qhia uas txiav txim siab txhua yam los ntawm peb lub cev yuav tsum ua haujlwm li cas, mus rau peb qhov siab, xim qhov muag, thiab cov kab mob uas peb yuav muaj.

Feem ntau, txhua lub cell tib neeg muaj 23 khub chromosomes, tag nrho yog 46 chromosomes. Ib tug me nyuam uas muaj Phelan-McDermid syndrome muaj ib daim me me ntawm chromosome 22 uas ploj lawm, lossis "deleted." Yog vim li ntawd nws thiaj hu ua '22q13.3 deletion syndrome.'

Feem ntau, tus mob no tsis yog los ntawm niam txiv. Qhov kev poob ntawm ib daim chromosome no tshwm sim tsis raws cai, uas yog, thaum lub qe lossis cov noob qes tsim, lossis thaum lub embryo loj hlob. Txawm li cas los xij, qee zaum tsis tshua muaj, nws tuaj yeem tau los ntawm niam txiv. Hauv qhov xwm txheej ntawd, niam lossis txiv uas muaj tus mob no muaj li ntawm 50% feem pua ​​​​​​ntawm lawv tus menyuam yuav tau tus mob no.

Cov tsos mob ntawm tus mob no yog dab tsi?

Cov tsos mob ntawm Phelan-McDermid syndrome yuav txawv ntawm ib tus neeg mus rau ib tus neeg. Ib txhia neeg muaj tsawg dua cov tsos mob, ib txhia muaj ntau dua. Qee cov tsos mob tshwm sim thaum yug los, thaum lwm tus tshwm sim thaum yau lossis thaum yau. Cov tsos mob no tuaj yeem yog lub cev, tus cwj pwm, kev txawj ntse, lossis kev sib xyaw ua ke ntawm tag nrho cov no.

Koj tus menyuam yuav muaj cov tsos mob zoo li no:

• Kev loj hlob qeeb : Tej yam xws li tsis dov, tsis zaum, tsis taug kev. Xav txog nws, qee tus menyuam mos pib dov thaum muaj 6 lub hlis, qee tus zaum thaum muaj 9 lub hlis. Tab sis tus menyuam uas muaj tus mob no yuav siv sijhawm ntev me ntsis los ua cov no.
• Kev kam rau mob ntau dua : Qhov no txhais tau tias tsis mob npaum li lwm tus.
• Cov leeg tsis muaj zog (hypotonia) : Lub cev yuav xav tias qaug zog thiab tsis muaj zog.
• Teeb meem hais lus : Hais lus qeeb lossis hais tsis tau lus.
• Kev tsis tsaug zog : Ua rau pw tsaug zog tsis taus, xws li sawv ntau zaus.
• Tawm hws tsawg dua li qub : Qhov no tuaj yeem ua rau lub cev kub dhau sai thiab qhuav dej.
• Nyuaj noj mov los yog nqos .
• Teeb meem ntawm lub plab zom mov : xeev siab, ntuav, thiab mob plab (kab mob gastroesophageal reflux).

Muaj coob tus neeg uas muaj Phelan-McDermid syndrome kuj muaj autism spectrum disorder, yog li ntawd lawv kuj tseem yuav muaj cov tsos mob ntawm tus cwj pwm xws li:

• Saib rau hauv ob lub qhov muag yog qhov tsis muaj zog .
• Xav ntshai thiab ntxhov siab thaum muaj teeb meem hauv zej zog .
• Nyiam zom cov khoom uas tsis yog khoom noj (piv txwv li cov khoom ua si, khaub ncaws).
• Kev tsis xis nyob thaum ib tug neeg kov koj : Koj yuav tsis xis nyob thaum ib tug neeg kov koj.

Qee cov yam ntxwv tshwj xeeb kuj tuaj yeem pom tau hauv cov tsos ntawm cov neeg uas muaj tus mob no:

• Qhov muag poob qis.
• Qhov muag poob qis (ptosis).
• Pob ntseg loj los yog tawm mus rau pem hauv ntej.
• Cov ntiv taw thib ob thiab thib peb yuav zoo li tau sib xyaw ua ke (syndactyly).
• Muaj ob txhais tes lossis ob txhais taw loj thiab muaj nqaij.
• Lub taub hau ntev thiab nqaim.
• Lub puab tsaig yuav zoo li ntse.
• Cov rau tes me me los yog txawv txawv.

Qee zaum qhov mob no nrog rau kab mob plawv txij thaum yug los thiab teeb meem raum.Tsis tshua muaj cov menyuam yaus no uas muaj cov hnab kua (arachnoid cysts) hauv lawv lub hlwb. Cov no tuaj yeem ua rau muaj kev ntxhov siab ntxiv hauv lub taub hau, ua rau tsis so, quaj, mob taub hau, thiab qaug dab peg.

Yuav kuaj tus kab mob no li cas?

Vim tias cov tsos mob ntawm Phelan-McDermid syndrome qee zaum tsis pom tseeb, lawv yuav nyuaj rau pom. Koj tus menyuam yuav tsum tau kuaj ntau zaus ua ntej lawv thiaj li tau txais kev kuaj mob tseeb. Tus kws kho mob yuav ua tej yam xws li:

• Kev kuaj xyuas lub cev ntawm tus menyuam.
• Nug txog keeb kwm mob ntawm tus menyuam txog cov tsos mob thiab kev loj hlob qeeb.
• Nug txog keeb kwm kev kho mob hauv tsev neeg seb puas muaj leej twg hauv tsev neeg tau muaj tus mob no.
• Thov kev kuaj noob caj noob ces . Feem ntau qhov no yuav tsum tau kuaj ntshav me me. Qhov no siv tau los saib seb daim chromosome uas koj xav kuaj puas ploj lawm.

Muaj tej zaum tsawg tsawg xwb, qhov mob no yuav tsis yog vim muaj ib qho chromosome ploj lawm. Tiam sis, tej zaum nws yuav yog vim muaj kev hloov pauv ntawm ib lub gene hu ua 'SHANK3'. Yog tias tsis pom muaj chromosome deletion, koj tus kws kho mob kuj yuav hais kom kuaj rau lub gene no.

Yog tias cov kev kuaj mob lees paub qhov mob '22q13.3 deletion syndrome', tus kws kho mob yuav qhia ntau yam kev kuaj mob ntxiv:

• Kev kuaj noob caj noob ces ntawm ob niam txiv : Saib seb qhov no puas yog ib yam dab tsi uas tau txais los ntawm noob caj noob ces lossis qhov tshwm sim tsis tau npaj tseg.
• Ib daim MRI (Magnetic Resonance Imaging) lossis CT (Computed Tomography) scan ntawm tus menyuam lub hlwb: Txhawm rau saib seb puas muaj cov cim qhia ntawm arachnoid cyst.
• Kev kuaj mob ultrasound rau lub raum : Txhawm rau kuaj xyuas seb puas muaj qhov tsis zoo ntawm lub raum.
• Echocardiogram : Siv los kuaj xyuas seb puas muaj teeb meem ntawm lub plawv.
• Kev ntsuam xyuas kev hnov ​​lus.
• Kev kuaj qhov muag kom ntxaws.
• Kev kawm txog kev pw tsaug zog.

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

Qhov tseeb, tam sim no tsis muaj tshuaj kho tau tus kab mob Phelan-McDermid syndrome. Lub hom phiaj tseem ceeb ntawm kev kho mob yog los tswj cov tsos mob ntawm tus menyuam, pab kom lawv ua haujlwm tau zoo li sai tau, thiab tiv thaiv tej yam teeb meem uas yuav tshwm sim.

Pab neeg saib xyuas koj tus menyuam yuav muaj ntau tus kws tshwj xeeb, suav nrog:

• Kws Kho Mob Plawv
• Kws Kho Mob Plab Hnyuv
• Kws Kho Mob Ntsws
• Kws kho mob hlwb
• Kws kho mob ua haujlwm: Ib tus neeg uas pab tib neeg ua tej haujlwm txhua hnub xws li noj mov thiab sau ntawv.
• Kws Kho Mob Pob Txha (kws kho mob pob txha thiab pob qij txha)
• Kws Kho Mob Lub Cev: Ib tug neeg uas pab txhawb zog cov qhov ntawm lub cev uas raug mob.
• kws kho mob hais lus/hais lus
• Kws Kho Mob Endocrinologist

Nco ntsoov tias, cov kws tshwj xeeb no txhua tus tab tom ua haujlwm ua ke los muab kev saib xyuas zoo tshaj plaws rau koj tus menyuam.

Puas tiv thaiv tau qhov teeb meem no?

Thaum ib tug neeg raug kuaj pom tias muaj tus mob no, tam sim no tsis muaj txoj hauv kev los kho qhov kev hloov pauv ntawm cov noob caj noob ces. Txawm li cas los xij, hauv qee kis uas ib tug ntawm cov niam txiv kuj muaj tus mob no, muaj qee lub sijhawm uas siv cov thev naus laus zis IVF lossis kev kuaj mob ua ntej yug menyuam los tiv thaiv nws kom tsis txhob tshwm sim rau cov menyuam yav tom ntej.

Yog tias koj lossis ib tug neeg hauv koj tsev neeg muaj tus mob no, nws yog ib qho tseem ceeb heev uas yuav tsum tau nrog kws kho mob lossis tus kws pab tswv yim txog caj ces tham . Lawv tuaj yeem piav qhia rau koj tias nws muaj feem ntau npaum li cas uas koj cov menyuam yuav tau txais tus mob no.

Yog tias kuv tus menyuam muaj tus mob no, yav tom ntej yuav zoo li cas?

Qhov no tsis zoo ib yam rau txhua tus menyuam. Nws nyob ntawm seb tus menyuam muaj hom kev tsis taus li cas thiab nws hnyav npaum li cas.

Cov teeb meem ntawm tus mob no tsis tshua muaj kev phom sij rau lub neej. Txawm li cas los xij, ntau tus neeg uas muaj tus mob no yuav xav tau kev kho mob mus tas li thiab kev txhawb nqa hauv zej zog tas mus li. Yog li ntawd, kev hlub, kev nkag siab, thiab kev txhawb nqa ntawm cov tswv cuab hauv tsev neeg yog qhov tseem ceeb heev rau cov menyuam no.

Koj yuav saib xyuas ib tug me nyuam zoo li no li cas?

Nws yog ib qho tseem ceeb uas yuav tsum coj koj tus menyuam mus rau txhua qhov kev teem caij tshwj xeeb kom txhim kho lawv lub peev xwm. Vim tias koj tus menyuam yuav tsis tshua muaj peev xwm hws, yuav tsum paub txog cov hauv qab no:

• Tsis txhob kub dhau .
• Muab dej rau tus menyuam haus ntau (kom nws tsis txhob qhuav dej).
• Tiv thaiv kom tsis txhob raug tshav ntuj ncaj qha .

Vim tias muaj ntau tus neeg uas muaj tus kab mob Phelan-McDermid syndrome no lawv tsis kam mob heev thiab nyuaj rau hais lawv qhov tsis xis nyob, nrhiav cov cim qhia tias koj tus menyuam mob . Yog tias koj pom ib qho ntawm cov no, hu rau koj tus kws kho mob. Lawv tuaj yeem pab koj txiav txim siab seb koj tus menyuam puas mob plab lossis lwm yam. Cov cim qhia tias mob yuav suav nrog:

• Nyob ntsiag to dua li niaj zaus, tsis tshua muaj kev sib raug zoo.
• Ua pa sai dua li qub.
• Quaj los yog tsis xis nyob dua li niaj zaus.
• Tuav kom ruaj rau cov ntaub pua chaw pw lossis cov khoom nyob ze.
• Ua kom lub cev, caj npab, thiab ob txhais ceg khov kho thiab tsis txav mus los.
• Kev qhia qhov mob ntawm lub ntsej muag (piv txwv li, kaw ob lub qhov muag nruj nreem, zawm daim di ncauj).
• Quaj los yog qw.

Koj tuaj yeem nug tus kws kho mob dab tsi ntxiv?

Yog koj tus menyuam muaj Phelan-McDermid syndrome, koj tuaj yeem nug tus kws kho mob cov lus nug no:

• Qhov kev rho tawm ntawm cov chromosomes no puas yog los ntawm noob caj noob ces, los yog nws tshwm sim los ntawm txoj hmoo?
• Puas yog kuv tus menyuam muaj teeb meem xws li lub plawv, lub raum, lossis lub hlwb cysts?
• Qhov kev tsis taus ntawm kuv tus menyuam txoj kev xav cuam tshuam rau lawv npaum li cas?
• Kuv tus menyuam yuav tsum mus ntsib kws kho mob tshwj xeeb hom twg? Mus ntsib ntau zaus npaum li cas?
• Puas muaj cov pab pawg txhawb nqa uas tuaj yeem pab peb nyob nrog qhov mob no?
• Koj puas pom zoo kom muaj kev sab laj txog noob caj noob ces?
• Puas yuav tsum kuaj noob caj noob ces rau lwm tus neeg hauv peb tsev neeg?

Thaum kawg, kuv yuav tsum hais tias ...

Phelan-McDermid Syndrome yog ib yam mob caj ces uas tsis tshua muaj. Nws tuaj yeem ua rau kev hais lus thiab kev loj hlob qeeb, nrog rau autism spectrum disorder. Yog tias ib tug neeg hauv koj tsev neeg tau kuaj pom tias muaj tus kab mob chromosomal deletion syndrome no, tsis txhob ntshai . Ib pab pawg kws tshwj xeeb tuaj yeem pab koj thiab koj tus menyuam. Lub hom phiaj tseem ceeb ntawm no yog los txhim kho koj tus menyuam txoj kev ua haujlwm, tiv thaiv cov teeb meem uas yuav tshwm sim, thiab muab kev qhia txog caj ces yog tias tsim nyog. Koj tsis nyob ib leeg , thiab muaj ntau tus neeg uas tuaj yeem pab koj ntawm txoj kev no.

` Phelan-McDermid Syndrome, Phelan-McDermid Syndrome, Kab Mob Genetic, Chromosome, Autism, Kev Loj Hlob qeeb, SHANK3