Yu no bɔt di sik we dɛn kɔl Koolen-de Vries Syndrome? Lɛ wi tɔk bɔt am!

Yu smɔl pikin kin leta smɔl pas ɔda pikin dɛn fɔ sidɔm, tɔk, ɔ waka? Na nɔmal tin fɔ mek mama ɛn papa dɛn de wɔri ɛn wɔri smɔl we dɛn si tin dɛn lɛk dis. Bɔt nɔto ɔl di tɛm we pɔsin de delay na big prɔblɛm. Bɔt i impɔtant fɔ no bɔt sɔm kayn tin dɛn we nɔ kin apin so ɔltɛm we na bikɔs ɔf di jɛnɛtik tin dɛn. Fɔ ɛgzampul, Koolen-de Vries Syndrome na wan sik wae wi nɔr kin yɛri bɔt ɛvride, bɔt i fayn fɔ no bɔt. Lɛ wi tɔk bɔt am simpul wan, di we we yu go ɔndastand.

Wetin na Koolen-de Vries Sindrom?

Fɔ tɔk am simpul wan, Kuhlman-de Vries Syndrome (KdVS) na wan sik wae nɔr kin bɔrku pan jɛnɛtiks. I gɛt fɔ du wit di kromozom dɛn we de na wi bɔdi. Fɔ tɔk di kɔrɛkt tin, na bikɔs ɔf wan chenj we nɔ klia na wi kromozom nɔmba 17. Dis sik kin mek wi nɔ ebul fɔ gro fayn , sɔm lɛvul fɔ mek wi nɔ ebul fɔ tink gud wan, ɛn sɔm patikyula tin dɛn we de na wi fes .

Yu kin notis dis sik fɔs we yu pikin sidɔm fɔ insɛf leta pas ɔda pikin dɛn we dɛn ej, tɔk dɛn fɔs wɔd leta, ɔ tek lɔng tɛm fɔ tek in fɔs step. כda nem fכ dis kכndyushכn na `17q21.31 microdeletion syndrome.` Pan כl we di nem kin saund sכmtεm komplikεt, lε wi tek wan klos luk pan wetin i min.

Di impɔtant tin na dat pan ɔl we dɛn sik ya kin difrɛn frɔm wan pikin to ɔda pikin, na wan tin we kin apin to dis sik na dat bɔku tɛm dɛn pikin ya kin rili gladi ɛn gɛt padi biznɛs wit ɔda pipul dɛn . Dat na rili fayn tin. Bɔt dɛn go nid mɛrɛsin ɛn sɔpɔt ɔlsay na dɛn layf fɔ mɛn sɔm ɔda sayn dɛm.

Wetin na de sayn dɛm wae yu kin si pan dis sik?

Pan ɔl we di sik dɛn we dɛn kin si pan pikin dɛn we gɛt Kuhlman-de Vries syndrome (KdVS) kin difrɛn frɔm wan pɔsin to ɔda pɔsin, sɔm tin dɛn de we kin apin.

Di sayn dɛm we dɛn kin si bɔku tɛm:

• Divεlכpmεnt delay: Dis na big sayn. Dis min se tin dɛn lɛk fɔ kray, sidɔm, waka, ɛn tɔk kin leta pas ɔda pikin dɛn we gɛt di sem ej.
• Mild to moderate intellectual disabilities: I kin nid smɔl mɔ tɛm ɛn ɛp fɔ lan ɛn ɔndastand nyu tin dɛm.
• Wik mכsul tכn (hypotonia): fכ bi prεsis, di mכsul dεm na di bכdi kin lεk se dεn lכs sכmtεm εn dεn nכ de fכm. Dis kin mek i nɔ izi fɔ du sɔm muvmɛnt dɛn.
• Sayklis vɔmit sindrom: Sɔm pikin dɛn kin gɛt fɔ kɔntinyu fɔ vɔmit fɔ sɔm dez ɛn nɔ gɛt ɛni rizin fɔ mek dɛn vɔmit. Dis kin apin bak wan wan tɛm.

Ɔda sayn dɛm wae sɔm pikin dɛm kin gɛt:

Apat frɔm dɛn men sayn ya, sɔm pikin dɛn kin gɛt ɔda prɔblɛm dɛn.

• I nɔ izi fɔ it pikin dɛn: I nɔ kin izi fɔ sok ɛn swɛla it, mɔ we dɛn smɔl, kin apin.
• At, blad ɔ kidni abnɔmaliti: Sɔm pikin dɛn kin bɔn wit sɔm prɔblɛm dɛn na dɛn at, blad ɔ kidni.
• Skoliosis: Na wan sik we di spayna de kɔba to wan say.
• Epileptic conditions/ Seizures : Kɔndishɔn dɛn we tan lɛk fit kin apin.
• di tεstikul dεm we nכ dכn dכn: Na kכndyushכn we di tεstikul dεm fכ man pikin dεm nכ de dכn fulכp frכm di bכdi go insay di skrotum.

Di we aw di pikin de biev ɛn di kayn pɔsin we i bi

Bɔku tɛm dɛn kin si pikin dɛn we gɛt di sik we dɛn kɔl Koolen-de Vries Syndrome as pipul dɛn we rili gladi ɛn we gɛt padi biznɛs wit dɛnsɛf . Dɛn kin rili lɛk fɔ spɛn tɛm wit ɔda pipul dɛn. Bɔt sɔmtɛm dɛn kin gɛt tin dɛn bak lɛk Atɛnshɔn-Dɛfisit/Hyperactivity Disorder (ADHD) ɔr nyurodivɛlɔpmɛnt ɛn bihayvya kɔndishɔn lɛk Autism Spectrum Disorder .

Speshal tin dɛm wae yu kin si pan pikin dɛm wae gɛt Koolen-de Vries Syndrome in fes

Pikin dɛn we gɛt dis sik kin gɛt sɔm patikyula tin dɛn na dɛn fes. Bɔt mɛmba se, jɔs bikɔs yu gɛt wan ɔ tu pan dɛn tin ya nɔ min se yu gɛt di sik. Dɛn tin ya na dɔktɔ fɔ kɔnfirm dɛn.

• Wan fes we lɔng lɔng
• Big fɔrɛst
• Wan nos we tan lɛk pia
• Aylid we de drɔp (ptosis) .
• Big big yes dɛn we de kɔmɔt na do
• Wan tin we de sho se di ɔda kɔna dɛn na di yay de sho ɔp
• Wan fold we gɛt skin we de kɔba di insay kɔna dɛn na di yay (epicanthal folds) .

Dɛn sayn ya nɔ kin apin di sem we pan ɔl pikin. Sɔm pikin dɛn kin gɛt bɔku pan dɛn sik ya, ɛn ɔda wan dɛn kin gɛt smɔl.

Wetin kin mek pɔsin gɛt Koolen-de Vries Syndrome?

Naw lɛ wi si wetin kin mek pɔsin gɛt dis sik. di Koolen-de Vries Syndrome de kכz fכ wan mכtεshכn כ komplit dilit fכ di jin `KANSL1` we de na di kromozom 17.

Tink bɔt am, ɔl di sɛl dɛn na wi bɔdi gɛt kromozom dɛn. Dɛn kromozom ya kin kɛr di jin dɛn we de sho ɔltin frɔm aw wi luk to di kwaliti dɛn we wi gɛt. Nɔmal wan, wi kin gɛt tu kɔpi fɔ ɛni kromozom, wan na wi mama ɛn wan na wi papa.

Frɔm pikin dɛn we gɛt Kuhlman-de Vries sindrom (KdVS) .di mכtalman (bכt 95%) gεt wan kכpi we nכ de fכ di `KANSL1` jin na dεn kromozom nכmba 17. dεn kכl dis `maykrodeleshכn` , we min se wan rili sכm pat pan di jin nכ de. di rεst we di rεst gεt di `KANSL1` jin, bכt i gεt vεryushכn we de mek di jin nכ de wok fayn fayn wan.

Di rol we di `KANSL1` jin de ple

Dis `KANSL1` jin rili impɔtant. Bikɔs i de mek wan prɔtin we de ɛp fɔ kɔntrol aw ɔda jin dɛn de wok. dis kin apin bay we yu chenj wan tin we dεn kכl `kromatin` . `Kromatin` na wan kכmbaynshכn fכ protin dεm εn `DNA` . dis na wetin de mek `DNA` pak insay kromozom dεm. so yu kin si aw imכtant di `KANSL1` jin fכ di divεlכpmεnt εn fכ wok fayn fayn wan fכ difrεn pat dεm εn sistεm dεm na wi bכdi.

Yu tink se dis sik na frɔm in mama ɛn papa? (Wetin yu fambul gɛt)

Cullen-de Vries syndrome (KdVS) na wan kכndyushכn we dεn kin inhεrit as ``autosomal dominant'' . Fɔ tɔk am simpul wan, if pikin gɛt dis jɛnɛtik chenj frɔm wan mama ɔ papa nɔmɔ, di pikin kin gɛt dis sik. I involv wan jεnεtik chenj כ dilit insay εvri sεl.

Bɔt nɔto ɔltɛm i kin bi sɔntin we mama ɛn papa kin gɛt. Sɔntɛnde, di kɔndishɔn kin apin randomly, de novo. dis min se nכbodi na di famili nכ bin gεt dis kכndyushכn bifo, εn di jεnεtik chenj kin apin fכ di fכs tεm we di pikin in rεprכdaktiv sεl dεm de divεlכp, כ we di εmbrayo de bigin. So, i pɔsibul fɔ mek pikin gɛt am ilɛksɛf nɔbɔdi nɔ gɛt dis sik na di famili.

Aw dɔktɔ dɛn kin no bɔt dis sik?

If yu tink se yu pikin gɛt dis sik, di fɔs tin we dɔktɔ go du na fɔ tek tɛm chɛk yu pikin ɛn aks yu bɔt di sayn dɛm. Dis go ɛp yu fɔ ɔndastand mɔ bɔt aw yu pikin de gro ɛn aw i de biev.

afta dat, fכ kכnfכm dis kכndyushכn fכs, dεn nid fכ tεst di jεnεtik. dipכnt pan di kayn jεnεtik chenj, di kayn tεst we dεn du kin difrεn.

• di kromozom maykroarray: dis tεst kin no if wan pat pan di kromozom nכ de. Dis kin ɛp fɔ no di ‘maykrodileshɔn’ we wi bin dɔn tɔk bɔt bifo tɛm.
• jin sikεns: dis kin dεtekt sכft vεryushכn dεm na di KANSL1 jin insεf.

Bikɔs nɔto ɔl pikin dɛn we gɛt Kuhlman-de Vries syndrome (KdVS) gɛt di sem sayn, dɔktɔ dɛn kin se dɛn fɔ du ɔda tɛst fɔ ɔndastand di pikin in kɔndishɔn mɔ. Fɔ ɛgzampul:

• divεlכpmεnt evalueshכn: Dis de ases di pikin in divεlכpmεnt lεvεl εn skil dεm.
• Echocardiogram: I de chɛk aw di at de wok ɛn aw i tan.
• Asɛsmɛnt fɔ it: Dis go luk pan ɛni prɔblɛm we de wit it ɔ drink.
• Kidni ɔltrasɔund: Dɛn kin chɛk fɔ ɛni prɔblɛm wit di kidni dɛn.
• Magnetic Resonance Imaging (MRI) skan: I de tek ditayli pikchɔ dɛn bɔt di ɔgan dɛn we de insay, lɛk di bren.
• X-ray: Fɔ luk fɔ prɔblɛm wit di bon dɛm, lɛk skɔliosis.

Nɔto ɔlman nid fɔ gɛt ɔl dɛn tɛst ya. Dɔktɔ dɛn kin disayd us tɛst fɔ du bay di tin dɛn we di pikin gɛt ɛn wetin i nid.

Wetin na di tritmɛnt fɔ Koolen-de Vries Syndrome?

Naw, no mɛrɛsin nɔ de fɔ di Koolen-de Vries Syndrome. Dis na bikɔs na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks. Bɔt difrɛn tritmɛnt ɛn manejmɛnt opshɔn dɛn de we kin ɛp pikin fɔ kɔntrol in sik dɛn, fɔ mek in layf bɛtɛ, ɛn ɛp am fɔ divɛlɔp to in ful pawa. Dɛn kin mek dɛn tritmɛnt ya fɔ di pikin in nid.

Di tritmɛnt dɛn we dɛn kin gi

Bɔku tɛm, dɔktɔ dɛn kin tɛl yu fɔ yuz sɔm difrɛn kayn tritmɛnt dɛn:

• Okyupashכnal tεrapi: dis de εp di pikin fכ divεlכp fayn mכtalman skil dεm (e.g., fכ bכtכm, rayt) εn gros mכtalman skil dεm (e.g., fכ rכn εn jomp) we i nid fכ du di wok dεm we i de du ɛvride.
• Fizik tritmɛnt: Fizik thɛrapist kin ɛp fɔ mek di pikin in mɔsul dɛn strɔng, fɔ mek i balans fayn, ɛn fɔ mek i izi fɔ muv lɛk fɔ waka. Dis na impɔtant tin fɔ pikin dɛn we gɛt wan sik we dɛn kɔl ``hypotonia.''
• Spich therapy: Dis kin ɛp fɔ pul di prɔblɛm dɛn we kin apin we pɔsin de tɔk ɛn tɔk bɔt di tin dɛn we i de tink bɔt. Di wan dɛn we de mɛn pipul dɛn we de tɔk kin yuz difrɛn we dɛn lɛk pikchɔ, sayn langwej, ɛn tin dɛn fɔ tɔk.

Ɔda tritmɛnt ɛn intavɛnshɔn dɛn

Dipen pan di pikin in sik, dɛn kin nid fɔ tek ɔda tritmɛnt dɛn:

• Antiseizure medication: Pikin dɛm we gɛt seizure nid fɔ gi mɛrɛsin fɔ kɔntrol am.
• Fɔ put fidin tyub fɔ di prɔblɛm dɛn we gɛt fɔ du wit it: Pikin dɛn we nɔ izi fɔ swɛla ɔ sok it ɛn drink kin nid fɔ put fidin tyub tru di nos ɔ bɛlɛ dairekt insay di bɛlɛ fɔ gi di it we dɛn nid.
• Ɔpreshɔn: I kin nid fɔ du ɔpreshɔn fɔ tin dɛn lɛk skɔliosis ɔ di tɛstikul dɛn we nɔ go dɔŋ.

Skul ɛn sɔpɔt

Pikin dɛn kin nid difrɛn lɛvul fɔ sɔpɔt we i kam pan fɔ lan. Sɔm pikin dɛn kin du wɛl na skul dɛn we dɛn kin go ɔltɛm, ɛn ɔda wan dɛn nid spɛshal ɛp fɔ lan buk . I rili impɔtant fɔ mek di say we di pikin de lan we go fit di tin dɛn we di pikin ebul fɔ du ɛn wetin i nid.

Wetin na de layf fɔ pipul dɛm wae gɛt Koolen-de Vries Syndrome?

Risach pipul dɛm nɔr kin tɔk fɔ tru bɔt aw pɔrsin wae gɛt dis sik kin liv. Bikɔs i nɔ kin bɔku, na smɔl stɔdi dɛn stil de we dɛn dɔn du fɔ lɔng tɛm bɔt am. Bɔt bay di infɔmeshɔn we de naw, dɛn kin tink se pipul dɛn we gɛt dis sik go liv te dɛn big .

Wetin a fɔ ɛkspɛkt if mi pikin gɛt Kuhl-de Vries syndrome (KdVS)?

De layf fɔ pikin dɛm wae gɛt Koolen-de Vries Syndrome kin difrɛn bad bad wan dipεnd pan aw dεn sik kin tranga. Yu pikin kin nid fɔ go to difrɛn dɔktɔ dɛn ɛn go na klinik ɔltɛm. Di tritmɛnt ɛn mɛrɛsin kin bi wan men pat pan dɛn layf. Dɔn bak, sɔm pikin dɛm wae gɛt dis sik nɔr nid fɔ go to dɔktɔ ɔr gɛt tritmɛnt ɔltɛm lɛk ɔda pipul dɛm.

Di tin we impɔtant pas ɔl na fɔ mɛmba se nɔto yu wangren de. Yu pikin in dɔktɔ ɛn tritmɛnt pipul dɛn de wit yu ɛvri step na di rod.

Yu kin ɛp yu pikin fɔ gɛt di sɔpɔt we i nid na skul. Dis kin inklud spɛshal klas dɛn ɔ pɔsin we de tich pɔsin . Tɔk to yu pikin in ticha ɛn skul ɔfisa dɛn fɔ ɛp dɛn fɔ gɛt di tin dɛn we dɛn nid. Fɔ ɛgzampul, if yu pikin gɛt prɔblɛm fɔ tɔk, mek shɔ se dɛn wok wit pɔsin we de mɛn pipul dɛn we de tɔk.

Bɔku tɛm, i nɔ kin izi fɔ big pipul dɛn we gɛt Kuhlman-de Vries Syndrome (KdVS) fɔ liv fɔ dɛnsɛf. Dis na sɔntin we dɛn nid fɔ asɛs togɛda wit di wan dɛn we de kia fɔ dɛn ɛn di dɔktɔ dɛn, i go dipen pan di tin dɛn we de apin to ɛnibɔdi.

We yu kam fɔ no se yu pikin gɛt Kuhlman-de Vries Syndrome (KdVS), i nɔmal fɔ fil difrɛn kayn filin, lɛk fɔ fil bad, wɔri, ɛn sɔntɛm ivin vɛks. I nɔ izi fɔ dil wit dɛn filin dɛn de. Bot, a wan rimemba yu se yu no de yu wan. Yu pikin in dɔktɔ, nɔs, ɛn tritmɛnt pipul dɛn go ɛp yu pan dis joyn. Frɔm we dɛn no di sik to tritmɛnt, dɛn dɔn mekɔp dɛn maynd fɔ ɛp yu fɔ mɛn yu pikin in kɔndishɔn ɛn ɛp yu pikin fɔ liv bɛtɛ layf.

Fɔ dɔn, mɛsej we yu kin kɛr go na os

• Koolen-de Vries Syndrome na wan sik wae nɔr kin bɔrku pan jɛnɛtiks. i de kכz fכ wan mכtεshכn na di `KANSL1` jin na di kromozom 17.
• Di dilɛys fɔ divɛlɔp, intɛlektual disabiliti, ɛn difrɛn fes fes na sɔm pan di men sayn dɛm fɔ dis sik.
• Bɔku tɛm, dɛn pikin dɛn ya kin gladi ɛn dɛn kin gɛt padi biznɛs wit dɛnsɛf .
• Pan ɔl we no patikyula mɛrɛsin nɔ de, difrɛn tritmɛnt ɛn tritmɛnt dɛn de fɔ mɛn di sik dɛn ɛn fɔ mek yu liv bɛtɛ layf .
• Fɔ no di pikin kwik kwik wan ɛn fɔ du wetin i nid fɔ du na tin we rili impɔtant fɔ mek di pikin gro.
• If yu pikin gɛt dis sik, di tin we impɔtant pas ɔl na fɔ fala di advays we dɔktɔ gi yu, gi yu di tritmɛnt we nid fɔ mɛn yu, ɛn gi yu pikin bɔku lɔv ɛn sɔpɔt .
• Fɔ jɔyn sɔpɔt grup fɔ mama ɛn papa dɛn we gɛt pikin dɛn we gɛt dɛn sik ya kin bi bak big trɛnk. Nɔ ɛva shem fɔ aks yu dɔktɔ dɛn bɔt yu kwɛstyɔn ɛn tin dɛn we de mɔna yu.

Wi op se dis infɔmeshɔn dɔn ɛp yu fɔ ɔndastand sɔm tin bɔt Koolen-de Vries Syndrome.

` Cullen-De Vries Syndrome, Jɛnɛtik Diziz, Grɔw Dilay, Intɛlektual Disabiliti, KANSL1 Jin, Kromozom 17, Pikin Wɛlbɔdi