Wetin na di sik we dɛn kɔl Christianson Syndrome? Wi go tɔk bɔt dis kayn sik we nɔ kin apin we pɔsin kin gɛt we i kam pan jɛnɛtiks?

Yu dɔn ɛva tink if yu pikin gɛt dilɛy fɔ divɛlɔp? Ɔ i tan lɛk se i nɔ kin izi fɔ dɛn fɔ waka ɔ fɔ tɔk? Sɔntɛnde, dɛn kayn sik ya kin kam bikɔs ɔf wan sik wae nɔr kin bɔrku pan pɔrsin in jɛnɛtiks. Tide wi go tɔk bɔt wan rare bɔt impɔtant kɔndishɔn we wi fɔ no bɔt. Dɛn kɔl am Christianson Syndrome. Nɔ wɔri, i rili impɔtant fɔ no bɔt dis.

Wetin na di sik we dɛn kɔl Christianson Syndrome?

Fɔ tɔk am simpul wan, di sik we dɛn kɔl Christianson Syndrome na wan sik we nɔ kin apin so ɔltɛm, dat na di sik we dɛn kin si we dɛn nɔ kin si bɔku bɔku wan . Dis kin afɛkt wi nervɔs sistɛm mɔ. Tink bɔt am, di nervɔs sistɛm na di men sistɛm we de transmit mɛsej na wi bɔdi ɛn kɔntrol ɔl di tin dɛn we wi de du. So we dis afɛkt, tin dɛn lɛk fɔ waka ɛn tɔk kin ambɔg. Pipul wae gɛt dis sik kin gɛt divɛlɔpmɛnt delay ɔr kin gɛt disabled intɛlektual disabiliti. Bɔrku tɛm, dɛn sayn ya kin bigin fɔ sho we i smɔl.

Udat dɛn kin afɛkt mɔ pan dis sik? Wetin mek i tan lɛk se na bɔy pikin dɛn nɔmɔ i de afɛkt?

Naw luk, dis sik we dɛn kɔl Christianson Syndrome , dɛn kin si am mɔ pan bɔy pikin dɛn . Wan patikyula rizin de fɔ dat. na "X-linked genetic disorder", we min se i de kכz fכ wan jεnεtik difεkt we rilet to di X kromozom.

Wi ɔl gɛt smɔl smɔl tin dɛn we dɛn kɔl kromozom insay wi sɛl dɛn we de kip di tin dɛn we de na di jɛnɛtiks. uman dεm gεt tu X kromozom (XX), εn man dεm gεt wan X kromozom εn wan Y kromozom (XY).

So, ivin if uman gεt di jin mכtεshכn fכ Christiansen sεndrכm pan wan X kromozom, bכt di כda hεlty X kromozom bכku tεm nכ kin mek di sik. Dɛn kin bi pɔrsin wae gɛt dis sik. Dat min se dɛn gɛt di jin fɔ am pan ɔl we dɛn nɔ gɛt di sik.

Bɔt if man gɛt dis jin muteshon na in wan X kromozom, i go mɔs gɛt di sik bikɔs i nɔ gɛt wɛlbɔdi X kromozom fɔ du di wok. fכ uman fכ gεt dis sik, i fכ gεt dis mכtεshכn pan כl tu di X kromozom dεm. Dat na rili, rili rare, we min se di chans fɔ mek i apin rili smɔl.

Aw kɔmɔn tin na di sik we dɛn kɔl Christianson Syndrome?

Fɔ tru, i at fɔ tɔk klia wan aw dis kɔmɔn frɔm sɔm statystik. Bikɔs na wan kɔndishɔn we nɔ kin apin so ɔltɛm. Dɔktɔ dɛn se i nɔ kin apin so ɔltɛm .Na wan sik we nɔ kin apin so ɔltɛm. Sɔm pipul dɛn dɔn tɔk se lɛk wan pan ɛvri 600 bɔy pikin dɛn we gɛt X-linked intellectual disability kin gɛt dis sik. Wan ɔda stɔdi dɔn sho se Christianson Syndrome kin apin pan lɛk wan pan ɛvri 100 famili dɛm wae gɛt pikin wae gɛt X-linked developmental disability. So, yu kin si aw dis nɔ kin apin so ɔltɛm, nɔto so?

Wetin na di sayn dɛm wae de sho se pɔrsin gɛt Christianson Syndrome?

Okay, so lɛ wi si us simptom dɛn bɔbɔ we gɛt Christianson Syndrome de sho. Yu kin si sɔm pan dɛn tin ya ɔ ɔl dɛn tin ya. Nɔto ɔl pikin go gɛt ɔl di sayn dɛm, ɛn dat na sɔntin fɔ mɛmba.

Di men tin dɛn we dɛn kin si bɔku tɛm na:

• Prɔblɛm fɔ waka ɛn balans (ataxia): Dis min se i nɔ kin izi fɔ mek yu balans, ɛn yu kin fil se yu nɔ kin tinap ɔ yu nɔ kin tinap tranga wan we yu de waka.
• Epilepsy: Dis min se tin dɛn lɛk fɔ gɛt sik kin apin. Dis na we yu nɔ de no natin wantɛm wantɛm ɛn yu kin gɛt kɔnvulshɔn.
• Ay prɔblɛm: Fɔ ɛgzampul, strabismus, ɔ lɛk aw wi kin se, ‘krɔs yay’, na sik lɛk dat.
• Nɔ ebul fɔ tɔk ɔ i nɔ izi fɔ tɔk: I nɔ kin izi fɔ mek wɔd, ɔ ivin nɔ kin ebul fɔ tɔk atɔl, ɔ i kin rili smɔl.
• Intɛlektual disabiliti: I kin bi se i nɔ kin ebul fɔ lan, ɔndastand, ɛn ɔda tin dɛn.Di digri we dis kin apin kin difrɛn frɔm wan pɔsin to ɔda pɔsin.
• Maykrosɛfali: Di ​​ed kin smɔl pas aw i kin bi. Dɛn kin mɛzhɔ dis bay di pikin in ej ɛn in man ɔ uman.

Apat frɔm dis, yu kin si sɔm ɔda tin dɛn:

• Ɔtizm spɛktrum disɔda: Simptom dɛm lɛk fɔ nɔr want fɔ de wit ɔda pipul dɛm, fɔ dil wit ɔda pipul dɛm, ɛn fɔ de ripit bihayvya.
• Sɛribɛl atrofi: Na di pat pan wi bren we de kɔntrol di balans ɛn muvmɛnt, we dɛn kɔl di sɛribɛl, kin stɔp fɔ gro ɔ shrink.
• Prɔblɛm dɛn we de na di dijestiv sistɛm: Fɔ ɛgzampul, tin dɛn lɛk gastroesophageal reflux disease (GERD), we kin mek yu gɛt sayn dɛn lɛk at bɔn ɛn we yu de tɔn bak.
• Yu nɔ go ebul fɔ waka igen: Yu go ebul fɔ waka fɔs, bɔt as tɛm de go, yu go ebul fɔ waka smɔl ɔ ivin nɔ de igen. Dɛn kɔl dis ‘rɛgrɛshɔn’ .
• di mכsul dεm we wik (hypotonia): di bכdi kin fil fכ sכmtεm sכmtεm sכmtεm, lεk rכba dכl.
• We yu de lɔs yu wet ɔ yu de lɔs yu ayt:Yu kin lɔs yu wet ɛn ayt we fit yu ej. Dat min se yu nɔ go ebul fɔ gro fayn.

Wetin rili strenj na dat, sɔmtɛm pikin dɛm wae gɛt Christianson Syndrome kin sho sɔm kayn sayn dɛm wae fiba pikin dɛm wae gɛt ɔda jenɛtik sik wae dɛn kɔl Angelman syndrome, lɛk wae dɛn kin tan lɛk se dɛn gladi fɔ natin ɛn fɔ smayl ɔltɛm.

As wi bin dɔn tɔk, uman dɛn we gɛt dis jɛnɛtik muteshon, dat na, di wan dɛn we gɛt di sik kin gɛt prɔblɛm wit lanin, bɔt dɛn nɔ kin gɛt di ɔda bad bad sayn dɛn we bɔy pikin dɛn kin gɛt.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Christianson Syndrome?

If wi luk di tin wae kin mek dis sik, Christianson Syndrome na wan sik wae de mek pɔrsin gɛt dis sik . Dat min se na bikɔs ɔf wan chenj ɔ muteshɔn na wan jin. fכ bi prεsis, i de kכz fכ wan mכtεshכn na di jin we dεn kכl SLC9A6 na di X kromozom.

dis jin mכtεshכn de kכmכt frכm mama εn papa to pikin dεm. Bɔrku tɛm, mama ɛn papa dɛm wae kin pas dis muteshon to dɛn pikin dɛm na dɛn kin gɛt dis sik. Dis min se pan ɔl we dɛn gɛt dis chenj na dɛn jin, dɛn nɔ de sho sɔm sayn dɛn.

Aw dɛn kin no dis sik?

We dɔktɔ si yu ɔ yu pikin, dɛn kin sɔprayz se dɛn gɛt Christianson Syndrome if dɛn gɛt ɛni wan pan di sayn dɛm we wi bin dɔn tɔk bɔt.

Imajin, dɛn bɔn smɔl Kasun lɛk ɔda bebi dɛn. Bɔt smɔl smɔl, in mama ɛn papa kam fɔ no se Kasun big smɔl pas ɔda pikin dɛn. I bin let fɔ ol in nɛk fayn, let fɔ rɔl, ɛn let fɔ sidɔm. Dɔn we i bigin fɔ waka, i kin fɔdɔm bɔku tɛm, lɛk se i nɔ balans. I bigin fɔ tɔk bak rili let, bɔt in wɔd dɛn nɔ bin klia. Afta i bigin fɔ go skul, i nɔ bin izi fɔ am fɔ ɔndastand lɛsin dɛn. Na we i sho am to dɔktɔ, we du difrɛn tɛst dɛn ɛn fɛn wan sik we dɛn kɔl Christianson Syndrome.

Fɔ mek dɛn no dis, ɔ fɔ mek dɛn nɔ no am, dɛn kin du spɛshal blɔd tɛst . dis bכdi tεst dεn de yuz fכ no if mכtεshכn de na di jin we dεn kכl SLC9A6. Dɛn kɔl dis jenɛtik tɛst .

Wetin na di tritmɛnt fɔ di sik we dɛn kɔl Christianson Syndrome?

Wan kwɛstyɔn wae bɔrku pipul kin aks na if definitiv mɛrɛsin de fɔ dis. Infakt, no mɛrɛsin nɔ de yet fɔ mɛn am. Bɔt dat nɔ fɔ mek yu at pwɛl. Bɔrku tritmɛnt de wae kin ɛp fɔ kɔntrol de sik ɛn fɔ mek di pikin ɛn in famili gɛt bɛtɛ layf.

Yu ɔ yu pikin in tritmɛnt plan kin gɛt fɔ du wit:

• Tritmɛnt fɔ ay prɔblɛm: tin dɛn lɛk glas, ɛn sɔntɛm ɔpreshɔn fɔ kɔrɛkt wan squint (strabismus).
• Individualized Education Plan (IEP): Ɛp pikin dɛn we gɛt disabiliti fɔ tink ɔ fɔ lan fɔ lan di we we go fayn fɔ dɛn.
• Antiepileptic drugs: Na mɛrɛsin dɛn we dɔktɔ dɛn kin gi fɔ ridyus di frɛkuɛns ɛn di kayn we aw pɔsin kin sik.
• Fyzikal tritmɛnt: Dis kin rili ɛp fɔ mek yu bɔdi gɛt mɔ trɛnk, fɔ mek yu mɔsul dɛn gɛt mɔ trɛnk, fɔ mek yu ebul fɔ waka, ɛn fɔ mek yu balans.
• Spich therapy: I de mek di langwej ɛn tɔk fayn fayn wan. I kin tich bak ɔda we dɛn fɔ tɔk to di wan dɛn we nɔ ebul fɔ tɔk.
• Occupational therapy: I de ɛp fɔ du ɛvride wok lɛk fɔ drɛs, it, ɛn ɔda tin dɛn we pɔsin kin du ɛvride.

Dɛn kin du ɔl dis fɔ ɛp di pikin fɔ liv di bɛst layf.

Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Christianson Syndrome?

Infakt, no we nɔ de fɔ mek dɛn nɔ gɛt di sik we dɛn kɔl Christianson Syndrome ɔ di jin we de mek i gɛt am, bikɔs na jɛnɛtiks.

Bɔt if yu tink se yu kin gɛt dis sik, ɔ if pɔsin na yu famili gɛt dis sik, dɛn kin du yu jenɛtik tɛst .

Dis jenɛtik tɛst min fɔ tek wan sɛmpul pan yu blɔd ɛn luk fɔ sɔm jɛnɛtik muteshon dɛn. Dɔn wan pɔsin we de advays yu bɔt yu jɛnɛtiks go ɛksplen to yu di tin dɛn we dɛn dɔn du fɔ di tɛst. Dɛn go ɛp yu fɔ ɔndastand wetin dɛn muteshon ya kin du ɛn aw yu go gɛt pikin we gɛt Christianson Syndrome. Dis kin rili impɔtant fɔ no bifo yu bigin famili ɔ bɔn ɔda pikin.

Aw layf go bi wit dis sityueshɔn? (Autluk) .

If dɛn gɛt gud sɔpɔt fɔ kia fɔ dɛn, lɛk fɔ trit dɛn bɔdi fayn ɛn fɔ mɛn dɛn we dɛn de tɔk, pipul dɛn we gɛt di sik we dɛn kɔl Christianson Syndrome kin liv fayn layf . Dɛn kin ebul fɔ wok di bɛst we aw dɛn ebul.

Bikɔs dɛn stil de du risach bɔt dis sik, dɛn nɔ gɛt ɛni rayt data bɔt aw pɔsin kin liv. Bɔt bɔrku tɛm, pipul dɛm wae gɛt dis sik kin liv nɔrmal layf span. כltu, sכmtεm dεn kin si wan kכndishכn we dεn kכl ‘rεgrεshכn’ , we min se di abiliti dεm we bin de bifo de dכn. Fɔ ɛgzampul, di ebul fɔ tɔk ɔ waka kin fayn fɔ sɔm tɛm, bɔt i kin pwɛl bak. I fayn fɔ tɔk to yu dɔktɔ dɛn bɔt dɛn kayn tin ya ɛn rɛdi fɔ bia wit dɛn.

Us kwɛstyɔn dɛn yu fɔ aks di dɔktɔ?

If yu tink se yu ɔ yu pikin gɛt di sik we dɛn kɔl Christianson Syndrome, ɔ if dɛn dɔn no se yu gɛt dis sik, yu kin aks yu dɔktɔ dɛn kwɛstyɔn ya. Nɔ fred fɔ aks ɔl wetin de na yu maynd.

• Us tɛst dɛn kin yuz fɔ no if pɔsin gɛt di sik we dɛn kɔl Christianson Syndrome?
• Wetin na di rayt tin we mek dis de apin? Na prɔblɛm wit mi jin?
• Wetin na di tritmɛnt opshɔn dɛm fɔ dis? Us tritmɛnt we bɛtɛ fɔ mi pikin?
• Wetin a kin du na os fɔ mek mi pikin we gɛt Christianson Syndrome gɛt bɛtɛ layf?
• Wetin na di chans fɔ mek mi ɔda pikin dɛn, ɔ pikin dɛn we go kam, gɛt dis sik?
• Us institiushɔn ɛn sɔpɔt grup dɛn wi kin tɔn to fɔ ɛp wit dis sityueshɔn?

Lɛ wi mɛmba dɛn pɔynt ya (Take-Home Message) .

• Christianson Syndrome na wan sik wae de kam wit jεnεtiks wae nɔr kin bɔrku .
• Dis kin afɛkt di nervɔs sistɛm mɔ, ɛn dis kin mek i nɔ izi fɔ waka ɛn tɔk .
• Bɔku tɛm dɛn kin si intɛlektual disabiliti .
• Dis kכndyush כn kin afekt bכy pikin dεm mכst (X-linked).
• Pan ɔl we no patikyula mɛrɛsin nɔ de fɔ dis, difrɛn tritmɛnt dɛn de we kin kɔntrol di sik dɛn ɛn mek in layf bɛtɛ.

If yu ɔ yu pikin gɛt ɛni wan pan dɛn sik ya, di bɛst tin fɔ du na fɔ nɔ fred, bɔt fɔ go to dɔktɔ kwik kwik wan. Mɛmba se nɔto yu wan de pan dis waka, ɛn if yu aks fɔ ɛp ɛn mek dɛn no bɔt yu, dat go ɛp yu fɔ bia wit dis prɔblɛm fayn fayn wan.

` Christianson Syndrome, Jɛnɛtik Disiz, Nɛvɔs Sistɛm, X-linked, Intɛlektual Disabiliti, Epilepsy, Divɛlɔpmɛnt Dilɛy