Yu de wɔri bɔt aw yu pikin de gro? Lɛ wi lan bɔt Lamb-Shaffer Syndrome!

Sɔntɛnde yu kin fil lɛk se yu smɔl pikin de biɛn smɔl pan dɛn divɛlɔpmɛnt? Ɔ yu tink se dɛn dɔn let fɔ bigin tɔk? Sɔntɛnde, na nɔmal tin fɔ mek wi as mama ɛn papa wɔri smɔl we wi si tin dɛn lɛk dis. Tide, wi go tɔk bɔt wan rili rare jenɛtik kɔndishɔn we de sho sɔm pan dɛn sik ya. Dɛn kɔl am Lamb-Shaffer Syndrome.

Wetin na Lamb-Shaffer Syndrome?

Fɔ tɔk am simpul wan, Lamb-Shaffer Syndrome (LAMSHF) na wan jɛnɛtik kɔndishɔn we nɔ kin apin so ɔltɛm. We yu yɛri di wɔd 'jɛnɛtik', yu kin tink se, "O, dis na sɔntin we de rɔn na di famili?" Lɛ wi tɔk bɔt dat fɔs. Dis kכndyushכn kin mek di pikin de dilay fכ divεlכpmεnt . Dis min se i kin tek sɔm tɛm fɔ mek pikin sidɔm ɛn waka. I kin mek bak i nɔ de tɔk fayn ɛn i kin mek i nɔ ebul fɔ tink fayn . Sɔm pikin dɛn kin gɛt difrɛn we aw dɛn de biev bak . Fɔ ɛgzampul, dɛn kin de du tin pasmak smɔl ɔ dɛn kin gɛt prɔblɛm fɔ pe atɛnshɔn. Nɔto dat nɔmɔ, bɔt sɔntɛnde yu kin si smɔl chenj dɛn bak na di shep fɔ di fes ɔ ivin sɔm chenj dɛn na di skel sistɛm. Bɔt nɔto ɔl dɛn kayn tin ya kin apin to ɔl pikin, ɛn dɛn kin difrɛn frɔm wan pikin to ɔda wan.

Dɛn gi dis nem ‘Lamb-Shafer’ afta di tu risach pipul dɛm we bin fɔs fɛn dis sik insay 2012. Frɔm da tɛm de, dɛn dɔn du mɔ risach ɛn infɔmeshɔn bɔt dis tɔpik.

Bɔt, if yu aks aw dis kin apin, i kin rili at fɔ lɛ dɔktɔ dɛn tɔk di rayt tin. Bikɔs i rili rare . Te naw, i nɔ rich 100 pipul dɛn we gɛt dis kayn kes we dɛn rayt na di mɛdikal rɛkɔd dɛn ɔlsay na di wɔl. So i nɔ go sɔprayz if yu nɔ yɛri bɔt dis bifo.

Wetin kin mek pɔsin gɛt dis sik? (Lɛ wi lan bɔt di SOX5 jin)

Okay, so lɛ wi si wetin mek dis Lamb-Schafer Syndrome (LAMSHF) kin apin. As a bin dɔn tɔk bifo tɛm, dis na dizayd we pɔsin kin gɛt frɔm in jɛnɛtiks . Jin dɛn de na ɛni sɛl na wi bɔdi. Dɛn jin ya nɔto jɔs wetin de sho wi ayt, kɔlɔ, ɛn aw wi ia tan, bɔt dɛn de ɛp bak fɔ kɔntrol difrɛn tin dɛn we wi bɔdi de du. I tan lɛk program we de na kɔmpyuta.

Lamb-Schafer syndrome de k כz fכ chenj (mכtεshכn) insay wan spεsifi k jin na wi bכdi. dis jin dεn kכl am di `SOX5` jin . nכmal wan, hεlty pכsin gεt tu kכpi fכ dis `SOX5` jin na in bכdi, εn dεn tu de wok fayn fayn wan. כltu, pכsin we gεt Lamb-Schafer sεndr כm gεt wan pathogenic vεryכnt insay wan kכpi fכ dis `SOX5` jin., we min se chenj de we go ambɔg wi. Ivin if di ɔda kɔpi nɔmal, na bikɔs ɔf di chenj we dis wan jin chenj na in mek di sayn dɛn de sho.

di `SOX5` jin na imכtant jin we de εp f כ prodyuz protin dεm na wi bכdi (protein sεntesis) εn fכ kכntrכl di growth fכ sכm kayn sεl dεm, spεshal wan na di bren εn bכdi . So we wan prɔblɛm de na dis jin, di prɔses dɛn we gɛt fɔ du wit am kin afɛkt. Dɔn gɛt am?

De Novo Mutations ɛn Aw Dɛn De Inhɛrit

Naw yu go de wɔnda se, “Dis na sɔntin we yu kin gɛt frɔm yu mama ɛn papa?” כl di tεm dεm, dat na, bכku pikin dεm we gεt Lamb-Schafer syndrome kin gεt di kכndyushכn biכs fכ wan nyu mכtεshכn (de novo mכtεshכn). ‘De novo’ min ‘nyu’. fכ sכmtεm, dεn tu mama εn papa kin gεt hεlty kכpi dεm fכ di `SOX5` jin insay dεn bכdi sεl dεm. כltu, di tεm we di pikin de bכn, wan mכtεshכn na di `SOX5` jin kin apin bay chans insay di sεl כ eg. Dis nɔto ɛnibɔdi in fɔlt. Dis na tin we apin bay chans.

כltu, sכm sכm nכmba (bכt 15%) pan di pikin dεm, lεk 15 pan 100, gεt dis kכndyushכn biכs na fכ wan pan di jεm sεl dεm (sεl dεm כ eg) fכ wan pan di mama εn papa gεt di SOX5 jin mכtεshכn. dis min se di כda sεl dεm na di mama כ papa in bכdi nכ gεt dis mכtεshכn, so dεn mama εn papa dεm de nכ de sho di simptom dεm fכ Lamb-Schafer syndrome. Bɔt na sɔm pan dɛn jem sɛl dɛn nɔmɔ kin gɛt dis chenj. dis dεn kכl am ``jεmlayn mכsaysis''. I kɔmplikt smɔl, bɔt dɔktɔ dɛn kin ɛksplen am to yu mɔ.

Ivin mɔr, pikin kin gɛt dis sik frɔm in mama ɔ papa we gɛt Lamb-Schafer syndrome. If dat apin, da pikin de gɛt 50% chans fɔ gɛt di sik. Dis min se wan pan ɔl tu pikin dɛn kin gɛt am, ɔ nɔbɔdi nɔ kin gɛt am atɔl.

Wetin na di sayn dɛm we de sho se yu gɛt dis sik? Aw yu no am?

Okay, naw lɛ wi si us sayn dɛm yu kin si pan pikin we gɛt Lamb-Schafer Syndrome (LAMSHF). Mɛmba se nɔto ɔl dɛn sik ya go de pan ɛvri pikin, sɔm kin jɔs gɛt sɔm pan di sayn dɛm, ɔr di kayn sik kin difrɛn.

Bɔrku tɛm, di fɔs sayn dɛm wae de sho na wae yu de delay fɔ tɔk ɛn fɔ mek yu ebul fɔ muv. di mכtalman skil dεm inklud tin dεm lεk fכ sidon, krawl, εn waka. Dɛn tin ya kin tek smɔl tɛm fɔ mek yu pikin du. di yכŋ pikin dεm kin gεt lכw mכsul tכn bak (hypotonia) , we min se dεn kin gεt bכdi we de sכmtεm sכmtεm.

Di sayn dɛm we dɛn kin si bɔku tɛm

As di pikin de ol, yu kin notis mɔ sayn dɛn. Sɔm pan dɛn tin ya na:

• Dilay we dɛn de tɔk: Sɔm pikin dɛn kin gɛt prɔblɛm fɔ kɔnɛkt wɔd dɛn ɛn fɔ mek sɛntɛns. Sɔm kin ivin bigin fɔ tɔk let.
• Shot span fɔ pe atɛnshɔn:I kin tranga fɔ pe atɛnshɔn pan wan tin fɔ lɔng tɛm. I kin izi fɔ mek yu nɔ pe atɛnshɔn to yu.
• Hyperactivity: I nɔ kin izi fɔ de na wan ples, kin gɛt di abit fɔ rɔn rawnd ɛn ple ɔltɛm.
• Intɛlektual disabled: Sɔm prɔblɛm kin de fɔ lan nyu tin, fɔ mɛmba tin, ɛn fɔ sɔlv prɔblɛm. Di digri we dis kin apin kin difrɛn frɔm wan pɔsin to ɔda pɔsin.
• Stiriɔtayp: Sɔntɛnde yu kin si yu pikin de mek di sem kayn muvmɛnt (lɛk fɔ flap in an ɔ shek in ed) bak ɛn bak. Dis na tin dɛn we dɛn nɔ kin ebul fɔ kɔntrol.
• Soshal ayzolayshɔn: Sɔntɛm pipul dɛn nɔ kin want fɔ de wit ɔda pipul dɛn, fɔ ple, ɔ fɔ tɔk to ɔda pipul dɛn.
• Dɛn kin vɛks bad bad wan: Sɔm pikin dɛn kin gɛt prɔblɛm fɔ kɔntrol di we aw dɛn de fil, so dɛn kin vɛks ɛn vɛks ɔltɛm .
• Prɔblɛm wit dɛn yay: Sɔm pikin dɛn kin gɛt strabismus , we na wan kayn krɔs-ay, ɔ refractive errors , lɛk fɔ si nia ɔ astigmatism, we kin nid fɔ gɛt glas.

Nɔto ɔl pikin we gɛt wan ɔ tu pan dɛn sik ya gɛt Lamb-Schafer syndrome, na dat mek i impɔtant fɔ go to dɔktɔ.

Wan ɔda tin na dat, lɛk wan pan ɛvri 10 pikin dɛn we gɛt Lamb-Schafer syndrome kin gɛt sik we dɛn kɔl seizure . Bɔt nɔto so i bi fɔ ɔlman.

Di chenj dɛn we de apin na di fes ɛn bɔdi

Sɔm pikin dɛn kin gɛt patikyula chenj dɛn na dɛn fes ɛn dɛn bɔdi bon dɛn. Bɔt dɛn chenj ya nɔ kin rili notis, ɛn na dɔktɔ nɔmɔ kin no.

• Brod nos
• Prominent fɔrɛst (`frɔntal bɔs`) .
• Smɔl chin ɔ jaw
• Strabismus (di yay dɛn we dɛn krɔs) .
• Tin ɔpa lip ɔ ful lip dɛn we nɔ de ɔltɛm
• di artikulεshכn fכ wan כ mכr bon dεm na di nεk we nכ de rεgulεr
• Fɔd rawnd na di spayna (kyphosis) .
• di kכv we nכ de rεgulεr na dεn spayna (scoliosis) .

We dɛn si di sayn dɛn lɛk dis, dɔktɔ dɛn kin du ɔda tɛst fɔ no wetin mek i gɛt dis sik.

Aw yu kin no dis ɛksaktɔli? (Diagnosis) .

Dɔktɔ dɛn kin yuz jenɛtik tɛst fɔ no if pikin gɛt Lamb-Schafer syndrome (LAMSHF). Fɔ ɛgzampul, if pikin de delay fɔ tɔk ɔ waka, ɔ if smɔl chenj dɛn de na di shep fɔ in fes ɔ in skel sistɛm, dɔktɔ dɛn kin se dɛn fɔ du dis kayn we fɔ tɛst in jɛnɛtiks.

dis jεnεtik tεst na di כnli we fכ no kכrekt wan if mכtεshכn de insay di `SOX5` jin we wi bin dכn tכk bכt. Bɔku tɛm, dis na tɛst we dɛn kin du pan blɔd sɛmpul.

Yu kin no am we yu gɛt bɛlɛ?

Bɔku tɛm, nɔto ɔlman dɛn kin tɛst fɔ Lamb-Schafer syndrome we dɛn gɛt bɛlɛ. Dis na bikɔs na sik we nɔ kin apin so ɔltɛm. Bɔt if dɛn no se di mama ɔ wan pɔsin we de nia di famili gɛt muteshon na di `SOX5` jin, ɔ if sɔmbɔdi na di famili gɛt Lamb-Schafer syndrome , di dɔktɔ dɛn kin se dɛn fɔ tɛst di sik we dɛn gɛt bɛlɛ. insay dεn kayn kes dεm ya, dεn kin du tεst lεk `(amniocentesis)` pan di advays fכ spεshal savant.

Wetin na di tritmɛnt dɛn?

Naw, no patikyula tritmɛnt nɔ de fɔ Lamb-Schafer syndrome (LAMSHF), we min se i kin mɛn di sik ɔltogɛda. Bɔt dat nɔ min se wi nɔ go ebul fɔ du ɛnitin. Di men gol fɔ tritmɛnt na fɔ mek di pikin gɛt bɛtɛ layf ɛn ɛp am fɔ du di tin dɛn we i de du ɛvride.

Dis kin inklud difrɛn tritmɛnt ɛn savis dɛm. Fɔ ɛgzampul:

• Bihayvya mεnejmεnt tεrapi: Dis kin εp fכ ridyus di pikin in bihayvya we nכ fayn εn εnkɔrej gud bihayvya.
• Individualized Education Programs (IEP) ɔ Special Education Services: Dɛn program ya de ɛp fɔ gi ɛdyukeshɔn to pikin dɛn we dɔn rich skul ej we dɛn mek fɔ dɛn lanin nid.
• Spich therapy: Dis na impɔtant tin fɔ pikin dɛm wae gɛt prɔblɛm wit tɔk fɔ mek dɛn ebul fɔ tɔk to dɛnsɛf fayn fayn wan.
• Fyzikal tritmɛnt: Pikin dɛn we gɛt prɔblɛm wit dɛn bak (lɛk skɔliosis ɛn kayfɔsis) kin gɛt ɛksesaiz fɔ mek dɛn tinap fayn, fɔ mek dɛn mɔsul dɛn strɔng, ɛn sɔntɛm dɛn kin ɛp dɛn fɔ waka.
• Jɛnɛtik advays: Dis kin ɛp mama ɛn papa fɔ ɔndastand di pikin in sik, tɛl dɛn nyu tin dɛn, ɛn tɔk to ɔda pipul dɛn na di famili bɔt di bad tin dɛn we kin apin to di pikin.
• Evalueshɔn fɔ yu yay: I impɔtant fɔ go to dɔktɔ we de mɛn yu yay fɔ trit yu yay prɔblɛm.
• Nyurolɔjik ɛvalueshɔn: Nyurolɔjis kin ɛp wit prɔblɛm dɛn we gɛt fɔ du wit di nervɔs sistɛm, lɛk we pɔsin kin gɛt sik ɛn we i nɔ de waka fayn.
• Ɔtpidik evalueshɔn: Prɔblɛm dɛn we gɛt fɔ du wit di skel sistɛm, lɛk skɔliosis, kin nid fɔ gɛt ɔtpidik dɔktɔ ɛp.

Dɛn kin du ɔl dis fɔ ɛp di pikin fɔ liv fayn ɛn kɔmfyut layf as i pɔsibul.Bikɔs di tritmɛnt we ɛnibɔdi nid kin difrɛn, wan tim fɔ dɔktɔ dɛn go wok togɛda fɔ no wetin bɛtɛ fɔ di pikin.

Yu tink se pikin dɛn we go kam tumara bambay sɛf go de pan denja?

If yu no se yu ɔ sɔmbɔdi na yu famili gɛt `SOX5` jin muteshon, ɛn yu de ɛkspɛkt ɔda pikin, i fayn fɔ go to jenɛtik kɔlnɔ . I kin ɛksplen to yu di chans fɔ pas di sik to pikin dɛn we go kam, ɛn aw i go afɛkt yu ɛn yu pikin if yu du dat. Dis go ɛp yu fɔ disayd fɔ du sɔntin we yu no.

Aw layf go tan lɛk wit dis kɔndishɔn? (Lɔng tɛm impak)

Frɔm di infɔmeshɔn we de naw, i tan lɛk se Lamb-Schafer syndrome (LAMSHF) nɔ de afɛkt di layf we pɔsin de liv. Dat na smɔl rilif, nɔto so? Bɔt fɔ liv wit dis sik kin difrɛn frɔm wan pɔrsin to ɔda pɔrsin, wit difrɛn kayn kwaliti fɔ liv.

Sɔm pipul dɛn nɔ kin ebul fɔ du dɛn wok fɔ dɛnsɛf. Dipen pan dɛn sɛns, dɛn kin nid pɔsin we de kia fɔ dɛn fɔ sɔpɔt dɛn ɔl dɛn layf. Bɔt if dɛn trit dɛn di rayt we ɛn sɔpɔt dɛn, dɛnsɛf go ebul fɔ liv dɛn layf we gɛt gladi at ɛn we gɛt minin.

Tin dɛn fɔ aks yu dɔktɔ

If yu gɛt ɛni kwɛstyɔn bɔt yu pikin ɔ dis sik, nɔ ɛva fred fɔ aks yu dɔktɔ ɔ nɔs. Yu kin aks tin dɛn lɛk:

• Wetin na di sayn dɛm fɔ Lamb-Schafer syndrome?
• Us tɛst dɛn a fɔ du fɔ no if mi pikin gɛt dis sik?
• Us tritmɛnt opshɔn dɛn de?
• If a gɛt ɔda pikin, wetin na di chans fɔ mek insɛf gɛt dis sik?

I rili impɔtant fɔ aks kwɛstyɔn dɛn lɛk dis ɛn sɔlv di prɔblɛm dɛn we de na yu maynd.

Mɛsej we dɛn kin kɛr go na os

Lamb-Shaffer Syndrome (LAMSHF) na wan jεnεtik kכndyushכn we rili rεs. I kin mek pikin dɛn nɔ ebul fɔ gro fayn, dɛn kin gɛt prɔblɛm wit dɛn maynd, ɛn dɛn kin chenj dɛn fes . Sɔm pikin dɛn kin gɛt bak prɔblɛm bak.

Pan ɔl we no mɛrɛsin nɔ de fɔ dis, difrɛn tritmɛnt dɛn de (lɛk tɛrapi fɔ tɔk, tritmɛnt fɔ biev, ɛn spɛshal ɛdyukeshɔn) fɔ mek di pikin ebul fɔ du mɔ ɛn fɔ mek i liv in layf fayn.

Naw dɛn biliv se dis sik nɔ gɛt ɛni impak pan di layf we pɔsin de liv. Bɔt sɔm pikin dɛn kin nid fɔ kia fɔ dɛn ɔl dɛn layf. If yu gɛt ɛni dawt ɔ wɔri bɔt dis, go to dɔktɔ wantɛm wantɛm. Dat na di bɛst tin fɔ du.

` Lamb-Shaffer Syndrome, LAMSHF, SOX5 jin, jεnεtik sik, divεlכpmεnt dilay, tכk difεlεns, intellektual disabiliti