Yu de wɔri bɔt aw yu smɔl pikin de gro? Lɛ wi lan bɔt wan sik we dɛn kɔl Russell-Silver Syndrome!

Yu dɔn ɛva fil lɛk se yu pikin de gro slo smɔl? Ɔ di dɔktɔ dɛn bin se dɛn bɔn di pikin wit smɔl wet we dɛn bɔn am ɔ i gɛt difrɛn abit dɛn? Sɔntɛnde, tin dɛn lɛk dis kin mek wi rili wɔri as mama ɛn papa. Tide, wi go tɔk bɔt wan pan dɛn kayn tin ya we nɔ kin apin so ɔltɛm bɔt we impɔtant fɔ mek wi no bɔt. Dat na di sik we dɛn kɔl Rɔsɛl-Silva Sindrom.

Udat kin gɛt dis sik? Aw i kɔmɔn?

Infakt, di sik we dɛn kɔl Russell-Silver syndrome kin afɛkt ɛni pikin. I kin afɛkt bɔy pikin ɛn gyal pikin dɛn ikwal. Bɔt na wan sik we nɔ kin apin ɔltɛm we pɔsin kin gɛt we i kam pan jɛnɛtiks . Fɔ sho se i kin afɛkt lɛk wan pan ɛvri 15,000 to wan pan ɛvri 100,000 pikin dɛn we dɛn bɔn. I at fɔ gi di rayt nɔmba, bikɔs sɔmtɛm de sayn dɛm fɔ dis sik kin tan lɛk ɔda divɛlɔpmɛnt prɔblɛm dɛm, ɛn sɔmtɛm dɛn nɔr kin no bɔt dɛn.

Di fɔs tɛm we Dɔktɔ Ɛnri Silva bin kam fɔ no bɔt dis sik insay 1953. Dɔn insay 1954, Dɔktɔ Alɛgzanda Rɔsɛl bin kam fɔ no bɔku ɔda tin dɛn. Fɔs, fɔ lɛk 20 ia so, di wan dɛn we de stɔdi bɔt dis bin tink se dɛn tu man ya dɔn fɛn tu difrɛn sik dɛn. Leta dɛn kam fɔ no se dɛn dɔn si difrɛn tin dɛn bɔt di sem sik. Na dat mek naw dɛn de kɔl am Rɔsɛl-Silva sindrom. Insay sɔm kɔntri dɛn, mɔ na Yurop, dɛn kin kɔl am bak Silva-Rɔsɛl sindrom.

Wetin na di sayn dɛm we de sho se pɔsin gɛt di sik we dɛn kɔl Russell-Silver syndrome?

Dis na di tin we impɔtant pas ɔl. Di sayn dɛm kin difrɛn frɔm wan pikin to ɔda pikin. Ɛn dɛn kin afɛkt difrɛn pat dɛn na di bɔdi. Lɛ wi si wetin na di men sayn dɛm.

Di kwaliti dɛn we gɛt fɔ du wit di we aw pɔsin de gro

difrεn spεshal kכntribyushכn dεm de we wi fכ si we dεn pikin ya de gro:

• intrauterine growth restriction (IUGR): dis min se di pikin nכ de gro lεk aw dεn bin de εkspεkt we i de insay di bεlε.
• di wet we dεn bכn we dεn bכn lכw : di wet we dεn bכn sכmtεm pas nכmal we dεn bכn am.
• Fɔ nɔ ebul fɔ gro fayn ɛn fɔ mek yu nɔ gɛt bɛtɛ wet afta dɛn bɔn yu : Dis na prɔblɛm bak fɔ bɔku mama dɛn.
• Short stature : Fɔ shɔt pas ɔda pikin dɛn we gɛt di sem ej.

Skul ɛn fes

yu kin si sכm pekul dεm bak pan di shep fכ di fes εn di sayz fכ di ed fכ dεn pikin ya:

• Fɔ gɛt big ed we yu kɔmpia am wit di ɔda pat dɛn na di bɔdi (we yu kɔmpia am wit di ayt ɛn wet).
• Di fontanelle, ɔ sɔft say na di ed, kin tek tɛm fɔ lɔk.
• Fɔ gɛt triangul fes .
• Fɔrɛst we de kɔmɔt bifo .
• Wan smɔl smɔl chin .
• Smɔl jaw `(micrognathia)`.
• I tan lɛk se di kɔna dɛn na di mɔt dɔn tɔn dɔŋ .

Prɔblɛm dɛn we gɛt fɔ du wit dɛn tit

Sɔm prɔblɛm dɛn kin de bak we gɛt fɔ du wit tit:

• Sɔm tit dɛn we de lɔs (hypodontia).
• Fɔ gɛt smɔl tit dɛn we nɔ kɔmɔn (maycrodontia).
• Di krawd we de na di tit .
• Sɔntɛnde, tin dɛn kin de lɛk we di palata skata .

Ɔda tin dɛn we pɔsin kin du na in bɔdi

Bɔku ɔda tin dɛn de we wi kin du na di bɔdi, we na:

• difrεns pan di lεngth fכ di an dεm εn di lεg dεm na di tu say dεm (hεmihypertrophy).
• di smɔl finga de bɛn insay (clinodactyly).
• Skɔliosis we dɛn kɔl .

Wetin na di prɔblɛm dɛn we kin apin we pɔsin gɛt Rɔsɛl-Silva sindrom?

I impɔtant fɔ no bɔt di tin dɛn we di Rɔsɛl-Silva sindrom kin du to yu pikin, we kin mek yu pikin gɛt difrɛn wɛlbɔdi prɔblɛm dɛn.

I nɔ izi fɔ it ɛn drink

• Fɔ want fɔ it : Di pikin nɔ kin want fɔ it igen.
• Krכnik asid rεfluks (GERD - Gastroesophageal Reflux Disease): Dis min se di bεlε asid de fכlכ כp insay di trot.
• εsophagitis : Dis kכndyushכn (GERD) de mek di εsophagus inflam.

Prɔblɛm dɛn we gɛt fɔ du wit di divɛlɔpmɛnt na di nerve

• Divεlכpmεnt delay : Dis min se tin dεm lεk fכ rכl ova, sidon כp, εn waka de delay.
• Di delay fɔ tɔk .
• Difrɛns fɔ lan : Sɔm prɔblɛm dɛn kin apin we dɛn de du skul wok.

Ɔda prɔblɛm dɛn we kin apin

• Di delay fɔ gro .
• I nɔ izi fɔ waka ɔ fɔ mek yu balans .
• Di blɔd shuga lɛvɛl smɔl (haypoglycemia).
• Prɔblɛm dɛn na di kidni .
• Prɔblɛm dɛn wit di riprodaktiv sistɛm ɛn di urinary sistɛm .

Aw di sik we dɛn kɔl Russell-Silver syndrome kin afɛkt big pipul dɛn?

Bɔku tɛm, big pipul dɛn we gɛt di sik we dɛn kɔl Russell-Silver syndrome kin shɔt . Bɔku tɛm, man dɛn kin lɔng lɛk 4 fit 11 inch. Di uman dɛn lɔng lɛk 4 fit 7 inch.

Dɔn bak, risach dɔn sho se dɛn pipul ya kin gɛt nyu prɔblɛm wit dɛn wɛlbɔdi biznɛs as dɛn de ol. Dɛn tin ya na:

• Mɛtabolik sindrom .
• Di mɔsul dɛn we dɔn go dɔŋ .
• Di bon dɛn we de go dɔŋ .
• Di want fɔ du mami ɛn dadi biznɛs we de go dɔŋ (hypogonadism).
• Testikul kansa .
• Myoclonus dystonia : Dis na wan sik wae de mek yu muv wan wan wae yu nɔr de kɔntrol.

Wetin kin mek pɔsin gɛt dis sik?

Rɔsɛl-Silva sindrom na rili wan sik we kɔmpleks smɔl . I kin kam bikɔs sɔm jin dɛn we de kɔntrol di bɔdi we nɔ de gro.naw dεn no se lεk 60% pan di pipul dεm we gεt dis kכndyushכn de kכz fכ di jεnεtik chenj dεm na di kromozom 7 כ 11.

Bɔt, i sɔprayz fɔ no se, lɛk 40% pan di pipul dɛm we dɛn kin no se gɛt di sik na dɛn klinik nɔ gɛt ɛni jɛnɛtik kɔz we dɛn kin no. I pɔsibul se di sik kin kam bikɔs ɔf di chenj dɛn we de apin na di ɔda kromozom dɛn we nɔto di kromozom 7 ɛn 11. Risach pipul dɛn stil de chɛk wetin ɔda chenj dɛn na di jɛnɛtiks kin gɛt fɔ du wit di sik.

Aw dɛn kin du di diagnosis?

Sɔntɛnde, i nɔ kin izi fɔ no bɔt di sik we dɛn kɔl Russell-Silver syndrome. As wi bin dɔn tɔk, di sayn dɛm ɛn aw di sik kin tranga kin difrɛn frɔm wan pikin to ɔda pikin. Bɔt, yu pikin in dɔktɔ go du fɔ chɛk in bɔdi gud gud wan fɔs. I kin tɛl am bak fɔ du mɔlikul jenɛtik tɛst . dis jεnεtik tεst kin kכnfכm di diagnosis insay lεk 60% pan di kes dεm.

Aw dɛn kin trit di sik we dɛn kɔl Russell-Silver syndrome?

Di tritmɛnt fɔ dis sik kin difrɛn frɔm wan pikin to ɔda pikin. E kin dipen pan de sayn dɛm ɛn aw de sik kin tranga. Di tin we impɔtant pas ɔl na fɔ bigin tritmɛnt kwik kwik wan . Dis na di tɛm we yu pikin go gɛt di bɛst tin fɔ du. Wan tim we gɛt spɛshal pipul dɛn go trit yu pikin. Dis tim kin gɛt:

• Yu pikin in dɔktɔ we de mɛn pikin dɛn .
• Wan dɔktɔ we de mɛn pikin dɛn we de gro .
• Wan spɛshal pɔsin we sabi bɔt bon dɛn .
• Endocrinologist na dɔktɔ we spɛshal pan ɛndokrin gland ɛn ɔmon dɛn .
• Dɔktɔ we spɛshal pan di dijestiv sistɛm (gastroenterologist).
• Wan pɔsin we sabi bɔt it .
• Wan dɔktɔ we de stɔdi bɔt nyuro .
• Wan spɛshal dɔktɔ we de mɛn dɛn tit .
• Wan pɔsin we de mɛn pipul dɛn we de tɔk .
• Wan man we de stɔdi bɔt pɔsin in maynd .
• Wan pɔsin we de advays pipul dɛn bɔt jɛnɛtiks ɛn pɔsin we sabi bɔt jɛnɛtiks .

Dɛn kin disayd di tritmɛnt we dɛn go pik bay di pikin in kɔndishɔn:

Tritmɛnt fɔ mek pɔsin gro

Di tritmɛnt we impɔtant pas ɔl insay di fɔs tu ia na di pikin in layf na fɔ sɔpɔt am wit it . Dɔktɔ dɛn go mek shɔ se di pikin de gɛt di rayt kalori. If nid de, dɛn kin yuz fidin tyub fɔ dis:

• Nasogastric tube : insay dis, dεn de pas wan tin tכb tru di pikin in nos, εsophagus, εn bεlε.
• wan gastrostomy tכb : insay dis, dεn kin mek sכm sכm pat na di pikin in bεlε wכl εn dεn kin put wan tכb dεn wan dεm dεn kin put insay di bεlε.

Grɔw ɔmon tɛrapi (GH tɛrapi): .

Wit dis tritmɛnt:

• I de mek di pikin in bɔdi strɔkchɔ, di we aw i de muv, ɛn i de mek i want fɔ it fayn.
• I de ridyus di risk fɔ mek di blɔd shuga nɔ bɔku (haypoglycemia).
• I de mek di pikin gro mɔ ɛn mɔ .

Tritmɛnt fɔ prɔblɛm dɛn we gɛt fɔ du wit it ɛn drink

Yu kin trit di asid riflɔks lɛk dis:

• Gi smɔl smɔl it dɛn ɔltɛm .
• Fɔ ol di pikin tinap stret we i de gi am tin fɔ it.
• Mεdikeshכn dεm: H2 blockers , we de ridyus asid prodakshכn, εn mכr pawaful mεdikeshכn dεm, lεk proton pump inhibitors , we de εp bak fכ hεl כlsa dεm na di εsophagus.
• Fכndoplikεshכn : dis na כpεrayshכn we de mek di valv (sphincter) bitwin di pikin in εsophagus εn in bεlε strכng.

Tritmɛnt fɔ di blɔd shuga lɛvɛl (Hypoglycemia) .

Dɛn kin trit dis lɛk dis:

• Fɔ gi pipul dɛn tin fɔ it ɔltɛm .
• Di tin dɛn we dɛn kin yuz fɔ it .
• Fɔd dɛn we gɛt kɔmpleks kabɔhaydrɛt .

Tritmɛnt fɔ prɔblɛm dɛn we gɛt fɔ du wit dɛn tit

Difrɛn tritmɛnt dɛn fɔ yu pikin in tit, lɛk bres ɔ ɔpreshɔn fɔ yu mɔt, kin nid fɔ kɔrɛkt di prɔblɛm dɛn we de wit yu pikin in tit.

Tritmɛnt fɔ ɔda kɔmplikeshɔn dɛn

Sɔntɛnde, spɛshal bres ɔ sus kin ɛp fɔ mek yu waka fayn ɛn balans. כpεrayshכn fכ kכrekt di limb asymmetry nכ kin nid fכ du.

Aw fɔ kɔntrol di sayn dɛm?

Apat frɔm mɛrɛsin, yu pikin in dɔktɔ kin tɛl yu sɔm ɔda we dɛn fɔ mɛn yu. Dɛn tin ya na:

• Saykososial tεrapi : Saykososial tεrapist dεm (social woka dεm) de gi mental hεlth sכpכt. Dɛn kin ɛp wit prɔblɛm dɛn we gɛt fɔ du wit di we aw pikin de fil bɔt insɛf, aw i de wit in kɔmpin dɛn, ɛn aw i de wit ɔda pipul dɛn.
• Jɛnɛtik kɔyl : Jɛnɛtik kɔlnɔ kin kɔnfirm if yu pikin gɛt di sik ɛn gi yu ɛn yu famili di advays we dɛn nid.
• Fyzikal thεrapi : Fyzikal tεrapist dεm de εp fכ strεch εn strכng di pikin in mכsul dεm εn tεndon dεm tru fyzikal εksεsayz dεm.
• Ɔkupeshɔn tɛrapi : Ɔkupeshɔn tɛrapist dɛn kin ɛp wit tin dɛm lɛk fayn fayn motoka skil dɛm, fɔ si tin, fɔ tink bɔt tin dɛm we pɔsin kin no, ɛn fɔ du tin wit sɛns.
• Spich therapy : Speech therapists de ɛp wit prɔblɛm wae gɛt fɔ du wit aw pɔrsin de tɔk, tɔk, tɔk to pɔrsin, ɛn aw fɔ it ɛn swɛla.

Aw a go ridyus di risk fɔ mek mi pikin gɛt Rɔsɛl-Silva sindrom?

Rɔsɛl-Silva sindrom na di rizin fɔ wan chenj na di jɛnɛtiks.. So, no we nɔ de fɔ mek dis sik nɔ kam. If yu de plan fɔ gɛt bɛlɛ ɛn yu want fɔ ɔndastand di prɔblɛm we kin apin we yu bɔn pikin we gɛt wan sik, tɔk to yu dɔktɔ bɔt aw fɔ tɛst yu jenɛtik bifo yu gɛt bɛlɛ .

Wetin a fɔ ɛkspɛkt if mi pikin gɛt Rɔsɛl-Silva sindrom?

Rɔsɛl-Silva sindrom na wan sik we pɔsin kin gɛt fɔ ɔl in layf . Bɔt i nɔ gɛt bad bad tin dɛn we kin mek pɔsin in layf de pan denja. Yu kin tink gud wan bɔt yu pikin in tumara bambay. Bɔt i dipen pan aw dɛn no di sik ɛn aw dɛn de trit am. Yu pikin go nid fɔ go to dɔktɔ kwik kwik wan ɛn fɔ fala am. If dɛn trit yu pikin kwik ɛn fayn, i go ebul fɔ liv nɔmal layf .

Wetin na di difrɛns bitwin di sik we dɛn kɔl Russell-Silver syndrome ɛn Silva sindrom?

Dɛn tu tin ya na tin dɛn we nɔ kin apin na di jɛnɛtiks we nɔ kin apin bikɔs ɔf chenj na wan jin. Bɔt di sik we dɛn kɔl Silva sindrom kin kam bikɔs di BSCL2 jin chenj . Silva sindrom na wan jεnεtik dizayd we de mek di mכsul dεm stif (spasticity) εn paralayz na di lכw pat dεm (paraplegia). Di sayn dɛm fɔ Silva sindrom kin bigin we dɛn smɔl . De sik kin wɔs as pipul dɛm de ol, bɔt pipul dɛm wae gɛt dis sik kin ɔltɛm liv aktif layf.

We yu yɛri se yu gɛt di sik we dɛn kɔl Russell-Silver syndrome, dat kin mek yu at pwɛl. Bɔt di tin we impɔtant pas ɔl fɔ mɛmba na dat, di we aw pipul dɛn kin si pikin dɛn we dɛn bɔn wit dis sik kin fayn. If dɛn no di sik ɛn trit am kwik, Rɔsɛl-Silva sindrom nɔto wan sik we go mek pɔsin in layf de pan denja. Wan tim we gɛt spɛshal dɔktɔ dɛn go wok wit yu ɛn yu pikin fɔ ɛp dɛn fɔ liv nɔmal, wɛlbɔdi layf.

So, wetin na di tin dɛn we wi fɔ mɛmba frɔm dis stori? (Mɛsej we dɛn kin tek go na os)

Okay, a op se naw yu dɔn ɔndastand mɔ bɔt di Russell-Silver Syndrome we wi bin tɔk bɔt. Na nɔmal tin fɔ fil wɔri we yu yɛri bɔt wan sik lɛk dis. Bɔt di tin we impɔtant pas ɔl na fɔ nɔ fred, gɛt di rayt infɔmeshɔn, ɛn du di tin dɛn we yu nid.

• Rɔsɛl-Silva sindrom na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt di we aw pikin de gro, mɔ bifo ɛn afta dɛn bɔn am.
• Di sayn dɛm kin difrɛn frɔm wan pikin to ɔda pikin, so i impɔtant fɔ go to dɔktɔ if yu gɛt ɛnitin fɔ wɔri bɔt aw yu pikin de gro ɔ aw i luk.
• Fɔ no di sik kwik kwik wan ɛn bigin fɔ gi di rayt tritmɛnt na in bɛtɛ fɔ di pikin. Dis nid fɔ gɛt difrɛn spɛshal pipul dɛn fɔ ɛp am.
• Pan ɔl we dis sik kin kɔntinyu fɔ de ɔlsay na in layf, i nɔ kin mek pɔsin in layf de pan denja. If dɛn de manej di pikin fayn fayn wan, i go ebul fɔ liv nɔmal layf.
• Nɔto yu wan de. Bɔrku pipul dɛn de lɛk dɔktɔ, advays, ɛn tritmɛnt wae kin ɛp yu ɛn yu pikin pan dis kayn tin.

Fɔ dɔn, nɔ fred fɔ tɔk to dɔktɔ bɔt ɛnitin we de mɔna yu bɔt yu pikin in wɛlbɔdi. If wi gayd ɛn sɔpɔt wi di rayt we, wi go ebul fɔ win ɛni prɔblɛm.

` Russell-Silver Syndrome, Russell-Silver Syndrome, jεnεtik sik dεm, pikin divεlכpmεnt, lכw bכn wet, sכt ayt, divεlכpmεnt delay