I tan lɛk se yu pikin de gro fast fast pas ɔda pikin dɛn? Lɛ wi tɔk bɔt Sotos Syndrome

Yu dɔn ɛva notis se yu smɔl pikin de gro fast smɔl pas ɔda pikin dɛn we in ej, ɔ in ed big smɔl? Ɔ sɔntɛm i kin gɛt prɔblɛm fɔ lan sɔm tin dɛn? Sɔntɛnde, dɛn tin ya kin bi sayn fɔ wan sik we nɔ kin apin so ɔltɛm we dɛn kɔl Sotos Syndrome . Nɔ wɔri, wi go tɔk bɔt dis ditayli, rili simpul.

Wetin na Sotos Sindrom?

Fɔ tɔk am simpul wan, Sotos Syndrome na wan sik wae nɔr kin bɔrku pan jɛnɛtiks. Sɔntɛnde dɛn kin kɔl am Sɛribral Jaygantism . Pikin dɛm we gɛt dis sik kin gro fast pas ɔda pikin dɛm we dɛn ej, we min se dɛn kin gro lɔng.

Bɔku men tin dɛn de we kin mek pɔsin gɛt dis sik:

• Fɔ bi pɔsin we lɔng pas ɔda pipul dɛn.
• Wan ed we big pas di avɛrej ɛn difrɛn difrɛn fes dɛn.
• Kɔgnitiv impairment, ɔr i nɔr kin izi fɔ ɔndastand ɛn mɛmba tin dɛm.
• Bihayvya chalenj ɔr bihayvya prɔblɛm.

di men tin we de mek dis kכndyushכn na di mכtεshכn we de insay wan jin we dεn kכl NSD1 insay wi bכdi. Tink bɔt am dis NSD1 jin tan lɛk buk we de tɛl wi bɔdi aw fɔ gro ɛn divɛlɔp. So, if chenj de na dis jin, di bכdi in growth kכntrכl kin bi sכm chaotic. Na dat mek pikin dɛm wae gɛt dis sik kin gro lɔng pas ɔda pipul dɛm.

Udat kin gɛt di sik we dɛn kɔl Sotos Syndrome?

Dis na jεnεtik kכndyushכn we kin afekt εni pikin. Bɔrku tɛm, dat na , 95 pasɛnt (95%) pan di tɛm, na nyu jɛnɛtik muteshɔn kin kam wit am. Dat min se na random chenj na wan jin na eg ɔ sperm sɛl. Dis nɔto ɛnibɔdi in fɔlt.

Bɔt nɔto ɔltɛm, if wan pan di mama ɛn papa gɛt dis jin muteshon, di pikin kin gɛt am bak. Insay mɛrɛsin, wi kin kɔl dis ɔtosɔmal dominant inhɛritɛns. If na so i bi, ɛni pikin we dɛn mama ɛn papa dɛn bɔn gɛt 50 pasɛnt (50%) chans fɔ gɛt di sik.

Aw kɔmɔn tin dis kin apin?

Sotos syndrome na wan sik we nɔ kin apin so ɔltɛm . Dɛn se i kin afɛkt lɛk 1 pan ɛvri 14,000 pikin dɛn we dɛn bɔn. Bɔrku tɛm, de sayn dɛm fɔ dis sik kin tan lɛk ɔda sik dɛm, so sɔm pikin dɛm kin go wae nɔr no bɔt dis sik.

Wetin na di sayn dɛm wae de sho se yu gɛt Sotos Syndrome?

Bikɔs dis sik kin mek dɛn bɔdi gro kwik kwik wan, dɛn pikin ya kin gɛt difrɛn we aw dɛn de luk. Di men tin dɛn we pɔsin kin si na:

• Fɔrɛst we de kɔmɔt ɔp ɔp.
• Wan fes we lɔng ɛn we smɔl.
• Wan chin we gɛt pɔynt.
• di yay dεm we de slan dכn (palpebral fissures).
• Inkrεs pan di an span.
• di mכsul dεm we de wik (hypotonia), we min se yu de sכmtεm sכmtεm sכmtεm.
• Di ayt kin go ɔp wit di ej.

Mɛmba se nɔto ɔl pikin go gɛt ɔl dɛn tin ya, ɛn jɔs fɔ gɛt wan ɔ tu pan dɛn tin ya nɔ min se dɛn gɛt Sotos sindrom.

Us prɔblɛm dɛn we kin apin na yu bɔdi bikɔs ɔf dis sik?

Pikin dɛn we gɛt Sotos sindrom kin gɛt sɔm prɔblɛm dɛn na dɛn bɔdi, lɛk:

• Di prɔblɛm dɛn we kin mek pɔsin gɛt kɔdineshɔn. Sɔntɛm i nɔ kin izi fɔ yu fɔ waka, rɔn, ɔ jomp.
• I nɔ de yɛri fayn igen.
• Prɔblɛm wit at ɛn kidni.
• Skɔliosis we de mek pɔsin gɛt sik.
• Sɔm kayn sik wae kin mɛk pɔrsin fil lɛk wae yu gɛt epilepsy.
• Prɔblɛm dɛn we pɔsin kin gɛt we i de si.

Bɔt nɔr wɔri , bɔrku pan dɛn kɔmplikeshɔn ya kin trit. Yu dɔktɔ go gi yu di tritmɛnt we i nid fɔ ɛp yu pikin fɔ liv gladi ɛn wɛlbɔdi layf as i pɔsibul.

Aw Sotos Syndrome kin afɛkt mi pikin?

dis kכndyushכn nכ kin afekt di pikin in fyzikal divεlכpmεnt nכmכ, bכt i kin afekt di Sεntral Nεv Sistem bak . di sεntri nεv sεstem na jכs wi bren εn spεnal kכd. Na dɛn tin ya de kɔntrol aw wi bɔdi ɛn maynd de wok.

So, biכs dis kכndyushכn de afekt di sεntri nεv sεstem, i kin bi se i kin delay sכmtεm insay di fכs fכ ia dεm we di pikin de liv fכ rich di divεlכpmεnt maylston dεm . Divεlכpmεnt maylston dεm na tin dεm we bכku pikin dεn kin du we dεn ej dεm. Fɔ ɛgzampul:

• Cognitive skills: Aw pikin de lan, tink, ɛn sɔlv prɔblɛm.
• Langwej divɛlɔpmɛnt: Na di we aw pikin de tɔk ɛn ansa wetin ɔda pipul dɛn se.
• divεlכpmεnt fכ di pikin: di pikin in mכtalman skil dεm, lεk fכ waka, rכn, εn jomp.
• Sɔshial ɛn imɔshɔnal skil dɛm: Na di we aw pikin de ple wit ɔda pipul dɛm ɛn bil padi biznɛs.

biכs di jεnεtik mכtεshכn de chenj di we aw di pikin in sεntri nεv sεstem de wok, pikin dεm we gεt Sotos sεndrכm kin gεt intellektual disabiliti.

Dɛn chenj ya we kin apin na di we aw pikin de lan ɛn ple kin afɛkt di we aw i de biev bak. Sɔm pan de bihayvya simptom dɛm wae gɛt fɔ du wit Sotos syndrome na:

• Wɔri.
• Atɛnshɔn-dɛfisit/haypa aktiviti disɔda (ADHD).
• Ɔtizm spɛktrum disɔda (ASD).
• Di we aw pɔsin de biev we i nɔ want fɔ du natin.
• Sɔshialayzeshɔn prɔblɛm dɛn.
• Irritable bihayvya, kray (Tantrums).

Aw Sotos Syndrome difrɛn bitwin pikin ɛn big pipul?

Pikin dεm we gεt Sotos sεndrכm de gro fast fast pas כda pikin dεm we dεn ej. So, we dɛn yɔŋ, dɛn kin notis se dɛn lɔng pas ɔda pikin dɛn. Bɔt as dɛn de big, di abnɔmal ayt we dɛn kin gɛt kin dɔn bɔku pan dɛn. Dis min se we dɛn dɔn big, i tan lɛk se dɛn ayt nɔ difrɛn so frɔm ɔda pikin dɛn.

I nɔ izi fɔ mek yu balans bikɔs ɔf di ayt kin kɔntinyu te i big if dɛn nɔ trit am we i yɔŋ.

Bɔrku pipul dɛm wae gɛt Sotos syndrome kin gɛt disabled fɔ lan, bɔt sɔm nɔr kin gɛt disabled. Di kayn we aw dɛn kayn prɔblɛm ya kin gɛt fɔ lan kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Bɔt di lɛvɛl we pɔsin kin gɛt disabled kin bi di sem ɔlsay na in layf.

Aw dɛn kin no se pɔsin gɛt Sotos Syndrome?

Fɔ no dis sik kin tranga smɔl bikɔs, lɛk aw a bin dɔn tɔk bifo tɛm, di sayn dɛm we i kin gɛt kin tan lɛk ɔda kɔmɔn mɛrɛsin sik dɛm.

Yu dɔktɔ go fɔs du yu pikin in bɔdi fɔ chɛk fɔ si if i gɛt di sik. Dɔn, if nid de, dɛn go rifer yu fɔ mek dɛn du yu jenɛtik tɛst . Dis min se yu fɔ tek yu pikin in blɔd ɛn tɛst am fɔ si if i gɛt chenj na di NSD1 jin we a bin dɔn tɔk bɔt. If di tεst kכnfכm se mכtεshכn de na di NSD1 jin, di dכkta go kכnklud se di pikin gεt Sotos sεndrכm. Dis diagnosis kin apin we i smɔl ɔ we i smɔl.

Wetin na di tritmɛnt fɔ Sotos Syndrome?

Di tritmɛnt fɔ Sotos sindrom de dipen pan aw di sik siriɔs. Di men gol fɔ tritmɛnt na fɔ kɔntrol di sayn dɛm ɛn ɛp di pikin fɔ liv fayn layf. Sɔm pan di men tritmɛnt dɛn na:

• Ɛdyukeshɔn sɔpɔt: Spɛshal ɛdyukeshɔn program dɛn we dɛn mek fɔ di pikin in lanin abiliti.
• Difrɛn tritmɛnt dɛn:
• Bihayvya tɛrapi: Manej di prɔblɛm dɛn we de wit di bihayvya.
• Fizik tritmɛnt: Fɔ mek yu bɔdi balans fayn ɛn mek yu mɔsul dɛn strɔng.
• Spich therapy: Mek yu sabi fɔ tɔk ɛn tɔk fayn.
• Mɛrɛsin fɔ kɔntrol di sayn dɛm: Fɔ ɛgzampul, mɛrɛsin fɔ ADHD ɛn wɔri.
• Ɛp fɔ yɛri fɔ pipul dɛn we nɔ de yɛri fayn.
• We yu wɛr bak bres ɔ yu de du ɔpreshɔn fɔ mek yu gɛt skɔliosis.
• We yu wɛr glas fɔ mek yu nɔ si fayn.

I rili impɔtant fɔ intavyu kwik kwik wan pan dɛn divɛlɔpmɛnt dilɛys ya ɛn ɔda sayn dɛm. Dis go rili ɛp di pikin fɔ du ɔl wetin i ebul fɔ du.

A kin ridyus di risk fɔ mek mi pikin gɛt Sotos Syndrome?

Bɔku tɛm, di sotos sindrom kin bi bikɔs ɔf wan random jenɛtik mutation. So, bɔku tɛm, no we nɔ de fɔ mek i nɔ apin .

Bɔt if yu gɛt Sotos sindrom, ɔ if yu de ɛkspɛkt pikin ɛn sɔmbɔdi na yu famili gɛt dis jenɛtik kɔndishɔn, i rili impɔtant fɔ go to jenɛtik kɔyl ɛn tɔk to dɔktɔ. Dis go ɛp yu fɔ gɛt asɛsmɛnt fɔ yu risk fɔ gɛt pikin wit di jenɛtik kɔndishɔn.

Wetin a fɔ ɛkspɛkt if mi pikin gɛt Sotos Syndrome?

Sotos syndrome na wan sik we pɔsin kin gɛt we i de liv in layf ; no mɛrɛsin nɔ de fɔ mɛn am. Bɔt, di tin we impɔtant pas ɔl na dat, di sik nɔ kin mek bɔku tɛm gɛt bad bad tin dɛn we kin mek pɔsin in layf de pan denja . Di gud nyus na dat pikin we gɛt Sotos syndrome kin liv nɔmal layf .

Yu pikin kin gɛt sɔm sayn dɛm bikɔs ɔf dis jɛnɛtik kɔndishɔn. Bɔt sɔm tritmɛnt ɛn tritmɛnt dɛn de we go ɛp fɔ mek dɛn nɔ gɛt dɛn sik ya. Yu pikin in dɔktɔ kin ɛp yu wit ɛnitin we de mɔna yu.

Ustɛm a fɔ go to mi pikin in dɔktɔ?

I fayn fɔ go to dɔktɔ if yu notis ɛni wan pan dɛn tin ya pan yu pikin:

• Nɔ fɔ ansa simpul kɔmand dɛn we yu de tɔk ɔ fɔ gɛt prɔblɛm fɔ yɛri.
• Fɔ gɛt prɔblɛm wit aw yu de biev we de afɛkt aw yu de lan na skul.
• I nɔ kin izi fɔ si klia wan ɔ fɔ de swɛt ɔltɛm we yu de luk sɔntin.
• Fɔ nɔ mit di divɛlɔpmɛnt maylston dɛm na di rayt ej.

Ustɛm a fɔ kɛr mi pikin go na imejensi rum (ETU) ?

If yu pikin gɛt Sotos sindrom ɛn gɛt sik we de mek i sik , yu fɔ kɛr yu pikin go na di imejensi rum wantɛm wantɛm. Seizure na siriɔs kɔmplikeshɔn fɔ Sotos sindrom. We yu pikin gɛt sik we dɛn kɔl seizure, yu kin:

• I nɔ kin no natin fɔ sɔm tɛm.
• Di shek we di an ɛn fut dɛn de shek we dɛn nɔ ebul fɔ kɔntrol.
• Fɔ sho se yu kɔnfyus, yu de wɔri, ɔ yu de fred.

Bɔrku tɛm, wan sik kin te bitwin 30 sɛkɔn ɛn tu minit. Ɛni sik we pɔsin kin gɛt we kin te pas fayv minit, na mɛdikal imejensi. If dis apin, kɔl 911 wantɛm wantɛm.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

We yu de tɔk to di dɔktɔ bɔt yu pikin, i go fayn fɔ aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Wetin kin apin if mi pikin nɔ mit di divɛlɔpmɛnt maylston dɛm?
• If i nɔ izi fɔ pikin fɔ balans, aw yu go mek i nɔ gɛt wan prɔblɛm?
• A fɔ si mi pikin to spɛshal dɔktɔ fɔ di sayd ɛfɛkt dɛn we dis sik kin kam wit?

Wetin na di difrɛns bitwin Sotos Syndrome ɛn Autism Spectrum Disorder (ASD)?

Sotos sindrom ɛn ɔtizm spɛktrum disɔda (ASD) na tu tin dɛn we kin apin . Bɔt bikɔs sɔm pan di sayn dɛn we dɛn ɔl tu kin gɛt kin fiba, sɔntɛnde dɛn kin di rɔŋ we fɔ no bɔt dɛn.

• Sotos sεndrכm na wan jεnεtik kכndyushכn we de kכz bay wan mכtεshכn na di NSD1 jin.
• Ɔtizm spɛktrum disɔda (ASD) na wan nyurodivɛlɔpmɛnt kɔndishɔn. Bɔku tɛm, dɛn nɔ kin no di rayt tin we kin mek pɔsin gɛt ASD.

Bɔt i impɔtant fɔ no se pikin dɛn we gɛt Sotos sindrom kin gɛt ASD pas pikin dɛn we nɔ gɛt Sotos sindrom.

Na sɔm kɔmɔn tin dɛm wae yu kin si pan dɛn tu tin ya:

• Disabiliti dɛn we gɛt fɔ du wit intɛlektual.
• Dilɛys fɔ divɛlɔp langwej.
• Dilɛys na di motoka abiliti ɛn balans.
• I nɔ kin izi fɔ ajɔst to sɔshal sityueshɔn dɛn.
• I nɔ kin izi fɔ mek yu pe atɛnshɔn to yu.
• Speshal bihayvya patεn εn abit dεm.

di men difrεns na dat Sotos syndrome de afekt pikin in fyzikal divεl כpmεnt bak , lεk in ayt εn ed saiz. Bɔt, ɔtizm spɛktrum disɔda (ASD) nɔ kin afɛkt di divɛlɔpmɛnt pan di bɔdi di sem we. Pikin dɛn we gɛt Sotos syndrome kin gro fast fast pas ɔda pipul dɛn we dɛn ej, dɛn kin gɛt big ed, ɛn dɛn kin gɛt difrɛn fes.

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Na nɔmal tin fɔ fil bad we yu kam fɔ no se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm. Bɔt mɛmba se, Sotos Syndrome nɔr kin bi wan sik wae kin mek pɔrsin in layf de pan denja.

If yu lɛk yu pikin, yu de sɔpɔt yu, ɛn yu de kia fɔ am fayn fayn wan, i go ebul fɔ du ɔl wetin i ebul fɔ du.

If yu de op fɔ bɔn pikin, tink bɔt fɔ go to yu jenɛtik kɔyl fɔ no if yu de pan denja fɔ gɛt jɛnɛtik kɔndishɔn. Ɔltɛm tɔk to yu dɔktɔ ɛn nɔ fred fɔ aks ɛni kwɛstyɔn we yu gɛt. Dɛn de de fɔ ɛp yu.

` Sotos Syndrome, jεnεtik sik, pikin divεlכpmεnt, ayt gεt, bren divεlכpmεnt, lanin disabiliti, bihayvya prכblεm