Yu gyal pikin gɛt prɔblɛm wit in divɛlɔpmɛnt? Wi go tɔk bɔt di sik we dɛn kɔl Rett Syndrome?

Yu smɔl pikin, mɔ di gyal pikin, kin dɔn notis sɔm divɛlɔpmɛnt delay ɔ i nɔ kin izi fɔ du tin dɛn we dɛn bin de du trade. Imajin, wan pikin we bin de du wɛl fɔ lɛk siks mɔnt so kin stɔp fɔ lan nyu tin wantɛm wantɛm ɛn ivin fɔgɛt di tin dɛn we i bin dɔn lan bifo. I rili nɔmal fɔ mek mama ɔ papa fil bad bad wan ɛn wɔri we dɛn si sɔntin lɛk dis. Tide wi go tɔk bɔt wan rili rare, bɔt impɔtant fɔ no, kɔndishɔn we kin mɔs afɛkt gyal pikin dɛn. Dis na wetin wi kin kɔl Rett Syndrome .

Wetin na di sik we dɛn kɔl Rett Syndrome? Fɔ tɔk am simpul wan...

Fɔ tɔk am simpul wan, Rett Syndrome na wan sik wae nɔr kin bɔrku pan jɛnɛtik ɛn nyurolɔjik . I kin afɛkt gyal pikin dɛn mɔ. i de kכz fכ wan jεnεtik vεryכ nt insay wan jin na wi bכdi, spεshal wan jin we dεn kכl `MECP2`. dis `MECP2` jin de ple wan rili imכtant rol fכ divεlכpmεnt fכ wi bren εn di εkshεnj fכ infכmeshכn bitwin nεv sεl dεm, dat na di kכnεkshכn bitwin nεv sεl dεm (synapse) . So, we chenj de na dis jin, i de afekt di divεlכpmεnt fכ di pikin in bren.

pan dis kכndyushכn, di fכs mכnt dεm na di pikin in layf, bכku tεm te i rich lεk 6 mכnt, de divεlכp jכs lεk כda pikin dεm. Dɛn kin du tin dɛn we fit dɛn ej, lɛk fɔ kray, fɔ smayl, ɛn fɔ muv dɛn an ɛn fut dɛn. Bɔt afta lɛk 6 mɔnt so, di pikin kin bigin fɔ lɔs di skil ɛn abiliti dɛn we i bin dɔn lan bifo. Fɔ ɛgzampul, di we aw dɛn kin ebul fɔ ol tɔys wit dɛn tu an, wev to dɛn mama, ɛn tɔk wɔd dɛn kin stɔp. Dɛn sayn ya kin apin difrɛn stej dɛn we di pikin de gro. Bɔt wan tin fɔ mɛmba na dat, pan ɔl we dɛn sik ya kin stɔp fɔ wɔs (de go bifo) as tɛm de go, dɛn nɔ kin dɔn kpatakpata. So, dɛn pikin ya nid spɛshal kia ɛn sɔpɔt ɔlsay na dɛn layf.

Wetin na di sayn dɛm wae de sho se yu gɛt Rɛt Sindrɔm?

As wi bin dכn tכk, pikin kin divεlכp nכmal wan te i rich lεk 6 mכnt. di fכs sayn dεm f כ Rεt Sindrכm na di divεlכpmεnt dεlay . Dis min se di pikin de let fɔ du tin dɛn we fit in ej, fɔ ɛgzampul, nɔ de kray we ɔda pikin dɛn de kray, wev dɛn an, ɔ bigin fɔ tɔk.

As di pikin de ol, di sayn dεm fכ divεlכpmεnt rεgrεshכn, we di tin dεm we dεn lan de lכs bak, de sho klia wan.

Di sayn dɛm wae kin afɛkt di pikin in mɔsul dɛm, aw i de muv, ɛn aw i de biev:

• Prɔblɛm wit balans ɛn kɔdineshɔn we yu de waka: I nɔ izi fɔ tinap ɛn waka. I kin fɔdɔm bɔku tɛm.
• I nɔ izi fɔ tɔk:I kin at fɔ tɔk wɔd ɛn tɔk wetin wi de tink bɔt. Sɔm pikin dɛn kin ivin nɔ ebul fɔ tɔk igen.
• I nɔ kin izi fɔ swɛla ɔ it it: Dis kin mek di pikin nɔ gɛt di tin dɛn we i nid, i kin lɛf fɔ it bɔku bɔku it dɛn, ɛn i kin mek i nɔ gɛt bɛtɛ it .
• di mכsul dεm wik כ stiff (spasticity): i nכ ebul fכ kכntrכl di limb dεm fayn fayn wan.
• I nɔ izi fɔ du muvmɛnt dɛn we yu sabi pan kɔmand (apraxia): Fɔ ɛgzampul, fɔ nɔ ebul fɔ du dat we dɛn tɛl yu fɔ "wev yu an," bɔt sɔntɛnde yu kin ebul fɔ wev yu an we yu tinap wansay.
• Ripit an muvmɛnt: Ripit an muvmɛnt lɛk fɔ swɛt, swɛt, ɛn klap na rili kwaliti fɔ dis sik.

Ɔda sayn dɛn we de sho se yu gɛt dis sik:

• Prɔblɛm fɔ slip: Nɔ fɔ slip fayn na nɛt, fɔ wek ɔltɛm.
• Prɔblɛm dɛn we de na di dijestiv sistɛm: tin dɛn lɛk riflɔks ɛn kɔnstipɛshɔn .
• Intɛlektual disabiliti: Di ​​abiliti fɔ lan kin ridyus.
• Nɔr kin rɛst ɔltɛm ɛn kin vɛks kwik.
• Skoliosis: Di spayna de kɔba to di sayd.
• Slow growth: Tin dεm lεk ayt εn weit gεt kin slo pas כda pikin dεm.

Sɔntɛnde, sɔm tɛm dɛn kin mek pɔsin in layf de pan denja na:

• I nɔ kin izi fɔ yu fɔ blo: Nɔ de blo ɔltɛm, yu kin ol yu briz, ɛn ɔda tin dɛn.
• Di at bit we nɔ de bit ɔltɛm.
• Di sik dɛn we kin mek pɔsin sik.

Pikin dɛn we gɛt Rɛt Sindrɔm gɛt spɛshal tin dɛn na dɛn fes?

Pikin dɛn we gɛt Rɛt Sindrɔm kin gɛt smɔl ed we yu kɔmpia am wit di ɔda pat dɛn na dɛn bɔdi. Dɛn kɔl dis maykrosɛfali . Dis kin mek di tin dɛn we pɔsin kin si na in fes kin sho smɔl. Bɔt nɔr patikyula tin nɔr de na in fes wae de fɔ dis sik, lɛk "dis na aw di fes tan."

Sɔmtɛm de sayn dɛm fɔ Rɛt Sindrɔm kin tan lɛk ɔda sik wae dɛn kɔl Angelman Syndrome . Dɛn tu sik ya gɛt tin dɛn we fiba, lɛk aw i nɔ kin izi fɔ tɔk ɛn tɔk to ɔda pipul dɛn, we i kin delay fɔ gro, we i kin gɛt sik we i de fil, ɛn we i kin gɛt prɔblɛm wit slip. Bɔt di sik we dɛn kɔl Angelman Syndrome gɛt sɔm patikyula tin dɛn na in fes, lɛk di yay dɛn we dip, di mɔt we big, ɛn big big say dɛn bitwin di tit dɛn. Rett Syndrome nɔ gɛt dɛn patikyula fes ya.

Stej dɛm fɔ Rɛt Sindrɔm

dis kכndyushכn kin go tru difrεn stej dεm we di pikin de gro. Na ɛni stej, di pikin kin sho difrɛn sayn dɛn. Bɔt nɔto ɔl pikin dɛn kin go tru ɔl dɛn stej ya di sem we. Fɔ ɛgzampul, sɔm pikin dɛn we gɛt Rɛt Sindrɔm nɔ kin ɛva ebul fɔ waka.

Di Stej dɛm fɔ Rɛt Sindrɔm:

1. Stej I - Stej we de bigin kwik kwik wan: Dis kin bigin bitwin 6 ɛn 18 mɔnt. di pikin in divεlכpmεnt de slo. Fɔ ɛgzampul, i kin delay fɔ kray, ɛn i nɔ kin ebul fɔ luk di mama stret. di pikin in mכsul dεm nכ de fכm bכku ( low muscle tone ), εn i kin at fכ it.

2. Stej II - Stej we de go bifo kwik kwik wan: dis kin apin bitwin 1 εn 4 ia. Di pikin nɔ kin ebul fɔ tɔk ɛn yuz dɛn an igen. Dɛn kin klem dɛn fist ɔltɛm. Sɔm pikin dɛn kin sho bak di kayn we aw pikin dɛn we gɛt Ɔtizm Spɛktrum Disɔda kin biev, lɛk we dɛn nɔ kin gɛt intres fɔ de wit ɔda pipul dɛn.

3. Stej III - Plɛtɔ ɔ tɛmporari stebul stej: Dis kin apin bitwin 2 ɛn 10 ia. Sɔm pan di sayn dɛm wae bin rili bad na di sɛkɔn stej, fɔ ɛgzampul, di kɔmyunikeshɔn skil ɛn motoka skil, kin impɔtant smɔl. Dɛn kin sho se dɛn want fɔ de wit ɔda pipul dɛn bak. Di sik kin kam pan dis tɛm.

4. Stej IV - Leta mכtalman dεklin: Dis kin apin eni tεm afta Stej III. Di pikin kin lɔs di ebul fɔ waka ɛn di mɔsul dɛn trɛnk. Bɔt di pikin in kɔmyunikeshɔn ɛn tink skil fɔ kɔntinyu fɔ de insay dis stej.

Wetin na de tin wae kin mek pɔrsin gɛt Rett Syndrome?

bכku tεm na wan jεnεtik vεry כnt na wan jin we dεn kכl `MECP2`. as a bin se, dis jin de instrכkt fכ prodyuz wan protin we dεn kכl `MECP2`. dis protin de εp fכ mεnten di kכnεkshכn (synapses) bitwin di nεv sεl dεm εn i de εp di pikin in bren fכ wok fayn fayn wan.

Bɔt nɔto ɔl di Rett Syndrome kes dɛm gɛt fɔ du wit di MECP2 jin. sכm jεnεtik vεryכnt dεm (fכ egzampl, dilit) כ vεryכnt dεm na כda jin dεm, lεk CDJK5 εn FOXG1, kin mek bak atypical Rett Syndrome kes dεm. Sɔmtɛm, dɛn sayn ya kin kam bikɔs ɔf di jin dɛm wae dɛn nɔr dɔn no yet.

di imכtant tin na dat dis jεnεtik chenj kin apin insεf/randomly . Dat min se, i nɔ kin gɛt am frɔm mama ɛn papa to pikin dɛn. So yu nɔ nid fɔ fil gilti tumɔs bɔt dat.

Bɔy pikin dɛn kin gɛt wan sik we dɛn kɔl Rett Syndrome?

Bɔku tɛm, na gyal pikin dɛn nɔmɔ kin gɛt di sik we dɛn kɔl Rett Syndrome . dis na biכs di jεnεtik chenj we de mek i de apin na di X kromozom. As yu no, uman gɛt tu X kromozom (XX).

Bikɔs bɔy pikin dɛn gɛt wan X kromozom ɛn wan Y kromozom (XY), dis sik nɔ kin apin so ɔltɛm. If bɔy pikin gɛt dis kayn we na in wan X kromozom, di sayn dɛn kin rili bad. Dis kin mek di bɛlɛ we dɛn bɔn ɔ ivin day we dɛn bɔn am.

dכkta dεn kכl dis kכndyushכn pan bכy pikin dεm ``MECP2-related severe neonatal encephalopathy.'' Dis kכndyushכn kin sho bak di simptom dεm we lεk di Rett syndrome, lεk intellectual disability, seizure, εn difεlεns fכ muv.

Kɔmplikɛshɔn dɛn we kin kam wit di sik we dɛn kɔl Rett Syndrome

Pikin we gɛt dis sik de pan denja fɔ gɛt dɛn prɔblɛm ya, sɔm pan dɛn kin mek in layf de pan denja:

• Aspiration pneumonia: Na wan sik wae de kam wit nyumonia wae de kam wae it ɔr drink de kam insay di lכng.
• Epilepsy: I kin gɛt sik dɛn we kin mek pɔsin sik ɔltɛm.
• At nɔ de wok fayn: Fɔ ɛgzampul, tin dɛn lɛk Long QT syndrome .
• Prɔblɛm dɛn we de na di lɔng ɔ we yu de blo.

Aw dɔktɔ dɛn kin no se pɔsin gɛt wan sik we dɛn kɔl Rett Syndrome?

Dɔktɔ kin no se i gɛt Rɛt Sindrɔm bay we i de chɛk di pikin ɛn du di tɛst dɛn we i nid. As mama, yu kin sɔprayz se sɔntin nɔ rayt we yu pikin nɔ de mit di divɛlɔpmɛnt maylston dɛn fɔ in ej, mɔ insay di fɔs ia. Na da tɛm de yu fɔ kɛr yu pikin go to dɔktɔ we de mɛn pikin dɛn ɔ yu famili dɔktɔ.

Yu dɔktɔ go chɛk yu pikin ɛn luk fɔ di sayn dɛn we i gɛt. Dɔn, dɛn go du tɛst fɔ no ɔda tin dɛn we kin gɛt di sem kayn sik. bכku tεm, dεn kin kכnfכm di kכndyushכn bay wan jεnεtik bכdi tεst we de luk fכ chenj na di MECP2 jin. Dis jenɛtik tɛst nɔ nid ɛni spɛshal pripiamɛnt ɔ fɔ de na ɔspitul.

Dɛn kin no bɔt di sik bitwin 6 ɛn 18 mɔnt, bikɔs na dis tɛm ya di sayn dɛm kin bigin.

Bikɔs Rɛt Sindrom na dis kayn sik wae nɔr kin bɔrku, sɔmtɛm i kin tranga fɔ gɛt diagnosis kwik kwik wan. I kin tek sɔm tɛm fɔ mek di mɛdikal tim nɔ gri wit ɔl di ɔda tin dɛn ɛn kɔnfirm se na so i bi. I kin mek yu at pwɛl fɔ wet fɔ ansa, bɔt if yu gɛt klia diagnosis, dat kin ɛp di mɛdikal tim fɔ trit yu pikin in sik dɛn.

Aw dɛn kin trit di sik we dɛn kɔl Rett Syndrome?

Di tritmɛnt we dɛn kin pik kin dipen pan di patikyula sayn dɛn we di pikin gɛt. Fɔ ɛgzampul, dɛn kin gi mɛrɛsin fɔ mek pɔsin sik ɛn fɔ mek i nɔ ebul fɔ muv. If di pikin gɛt prɔblɛm wit aw i de muv ɛn aw i sabi tɔk, di dɔktɔ kin tɛl am fɔ du tritmɛnt dɛn lɛk:

• Ɔkupeshɔn tɛrapi: I de ɛp fɔ du di wok dɛn we pɔsin kin du ɛvride ɛn i kin mek di an wok fayn.
• Fizik tritmɛnt: I kin ɛp wit tin dɛm lɛk fɔ waka, fɔ balans, ɛn fɔ mek yu mɔsul dɛn strɔng.
• Spich therapy: I de ɛp fɔ mek yu tɔk ɛn tɔk fayn.

Fɔ pikin dɛn we ol 2 ia ɔ pas dat, wan mɛrɛsin we dɛn kɔl Trofinetide dɔn sho fayn fayn tin dɛn we dɛn dɔn du klinik trial . Na di fɔs tritmɛnt we di U.S. Food and Drug Administration (FDA) dɔn gri fɔ spɛshal wan fɔ di sik we dɛn kɔl Rett Syndrome . I nɔto mɛrɛsin, bɔt dɛn kin tek am as tritmɛnt we de chenj di sik. Una fɔ tɔk bɔt dis opshɔn wit yu mɛdikal tim ɛn disayd togɛda.

Apat frɔm dat, yu pikin kin bɛnifit frɔm:

• We yu wɛr bres ɔ yu de du ɔpreshɔn fɔ mek yu gɛt skɔliosis .
• Dɛn kin chɛk yu ɔltɛm fɔ si if yu at nɔ fayn.
• Sɔpɔt we gɛt fɔ du wit nyutrishɔn.
• Speshal ɛdyukeshɔn program dɛn na skul.

Naw, no mɛrɛsin nɔ de fɔ di sik we dɛn kɔl Rett Syndrome . Bɔt yu pikin in dɔktɔ dɛn kin ɛp fɔ kɔntrol di sik dɛn we i gɛt ɔlsay na in layf.

Ustɛm a fɔ kɛr mi pikin go to dɔktɔ?

If yu notis se yu pikin nɔ de mit di divɛlɔpmɛnt maylston dɛn we fit in ej, mɔ afta 6 mɔnt, go to dɔktɔ wantɛm wantɛm.

If dɛn dɔn no se yu pikin gɛt Rett Syndrome , if dɛn gɛt ɛni bad bad tin we kin apin to am frɔm di tritmɛnt, ɔ if i gɛt nyu sik ɔ if di sik dɛn we de dɔn de wɔs, tɛl yu dɔktɔ.

Wetin na di layf we pikin we gɛt Rɛt Sindrɔm kin liv?

Bɔrku pipul dɛm wae gɛt Rett Syndrome kin liv fayn layf te dɛn rich 40 ia ɛn pas dat. If di sayn dɛm nɔr tranga, yu pikin kin gɛt nɔrmal layf. Bɔt if prɔblɛm dɛn kin kam wit wɛlbɔdi biznɛs, di layf we pɔsin kin liv kin shɔt.

Di bɛst pɔsin fɔ aks bɔt aw yu pikin go liv na dɛn dɔktɔ. I kin ɔndastand yu pikin in patikyula tin ɛn ɛksplen am to yu.

Prɔgnosis fɔ di sik we dɛn kɔl Rett Syndrome

Rett Syndrome na wan sik wae de kam wae yu de liv yu layf. Di sayn dɛm kin afɛkt ɛnibɔdi difrɛn we. Yu pikin kin ebul fɔ kɔntrol aw i de muv, waka, ɛn tɔk to ɔda pipul dɛn fɔ insɛf. Bɔt, dɛn go nid fɔ kia fɔ dɛn ɔlsay na di wɔl fɔ di res ɔf dɛn layf.

Dɔn bak, yu pikin go nid fɔ gɛt apɔntinmɛnt ɔltɛm wit dɛn mɛdikal tim fɔ manej di sayn dɛn fayn fayn wan ɛn fɔ mek i nɔ gɛt prɔblɛm dɛn. Sɔm kayn kes dɛm wae gɛt Rett Syndrome, prɔblɛm kin mek pɔrsin day kwik.

Fɔ no se yu pikin gɛt wan sik we nɔ kin bɔku na di nyurolɔjik, dat kin mek yu at pwɛl. Yu kin fil wɔri ɛn fil bad we yu pikin nɔ de divɛlɔp lɛk ɔda pikin dɛn. Pan ɔl we yu pikin in bɔdi go nid mɔ tɛm ɛn kia as i de gro, nɔ giv ɔp op. Dɔktɔ dɛn go de wit yu ɛvri step na di we fɔ gi yu pikin di kia we i nid.

Risach pipul dɛm de fɛn nyu tritmɛnt dɛm wae kin ɛp pikin dɛm wae gɛt Rett Syndrome tru klinik trial dɛm . If yu gɛt ɛni kwɛstyɔn bɔt aw yu pikin de si ɔ aw i de trit yu, aks yu dɔktɔ.

Di tin dɛn we impɔtant pas ɔl fɔ mɛmba (Take-Home Message) .

Na nɔmal tin fɔ fil bad we yu kam fɔ no se yu pikin gɛt Rɛt Sindrom . Bɔt mɛmba dɛn tin ya:

• Nɔto yu wangren de: Ɔda mama ɛn papa dɛn de we gɛt di sem kayn tin. Dɔktɔ, tritmɛnt pipul, ɛn sɔpɔt grup dɛn rɛdi fɔ ɛp yu.
• I impɔtant fɔ no am kwik: If yu notis se yu pikin de delay, go to dɔktɔ wantɛm wantɛm.
• Tritmɛnt kin ebul fɔ kɔntrol di sik dɛn we de sho se i gɛt sik: Pan ɔl we dɛn nɔ gɛt kɔmplit mɛrɛsin, di tritmɛnt ɛn di tritmɛnt dɛn kin mek di pikin gɛt bɛtɛ layf.
• Ɔl pikin difrɛn: Di sayn dɛm ɛn di impak we di sik kin gɛt kin difrɛn frɔm wan pɔsin to ɔda pɔsin. Dɔktɔ dɛn go ɛp yu fɔ mek wan plan fɔ kia fɔ yu pikin we go fayn fɔ yu pikin.
• Stay opful: Mɛdikal sayɛns de go bifo ɛn dɛn de du nyu risach, so i impɔtant fɔ de tink gud wan.

Di tin we impɔtant pas ɔl na fɔ gi yu pikin lɔv, kia fɔ am, ɛn kia fɔ am di rayt we.

` Rett Syndrome, jεnεtik sik dεm, nyurolכjik sik dεm, pikin divεlכpmεnt, MECP2 jin, divεlכpmεnt dilay