Wetin na Kɔnɛlia de Lange Sindrom? Lɛ wi tɔk bɔt am!

Yu dɔn ɛva wɔri smɔl ɔ want fɔ no bɔt aw yu smɔl pikin de gro, ɔ bɔt sɔm pan di smɔl smɔl chenj dɛn we de apin to dɛn? Sɔm pikin dɛn de we kin divɛlɔp smɔl difrɛn frɔm ɔda pikin dɛn, ɛn di we aw dɛn fes ɛn dɛn an ɛn fut kin difrɛn smɔl. Tide wi go tɔk bɔt wan rare bɔt rili impɔtant kɔndishɔn fɔ no bɔt. Dɛn kɔl dis Kɔnɛlia de Lange Sindrom (CdLS).

Wetin na di sik we dɛn kɔl Kɔnɛlia de Lan in sindrom (CdLS)?

Fɔ tɔk am simpul wan, dis na tin we nɔ kin apin so ɔltɛm we pɔsin kin gɛt we i kam pan jɛnɛtiks . "Jεnεtik" min sכmtin we de kכz fכ chenj na wi jin dεm. dis kכndyushכn kin mek di pikin in bכdi de chenj, in intellectual divεlכpmεnt (lεk fכ lan), εn di bihayvya.

di imכtant tin na dat dis kכndyushכn (CdLS) nכ de afekt כl pikin dεm di sem we. Pan ɔl we sɔm pikin dɛn kin gɛt sayn dɛn we nɔ kin rili at fɔ si, ɔda wan dɛn kin gɛt sayn dɛn we rili bad. Fɔ tɔk am strikt wan, nɔ tu pikin dɛn we gɛt dis sik nɔ gɛt di sem tin. Bɔt sɔm tin dɛn de we kin fiba pan di we aw dɛn de luk ɛn di we aw dɛn de biev. Dis kכndyushכn kin afekt difrεn pat dεm na di pikin in bכdi. De men sayn wae yu kin si na:

• Di growth retardation bifo ɛn afta dɛn bɔn am. Dis min se di pikin kin lɔs in wet ɛn i nɔ kin gro lɔng.
• Chenj na di ed ɛn fes. dכkta dεn kכl dεn chenj dεm ya ``craniofacial``. Wi go tɔk bɔt dis leta.
• Sɔm tin dɛn we nɔ fayn na di an ɛn finga dɛn.
• Fɔ gɛt mɔ ia pas aw i fɔ gɛt na yu bɔdi ɛn ed. dis dεn kכl am ``hypertrichosis`` כ ``hirsutism``.
• Disabiliti dɛn we gɛt fɔ du wit intɛlektual.

Aw dis sik kin kɔmɔn?

Cornelia de Lann syndrome na rili wan sik we nɔ kin apin so ɔltɛm . I de de we dɛn bɔn am. Fɔ sho se i kin apin to lɛk wan pan ɛvri 10,000 pikin dɛn we dɛn bɔn layf layf wan, ɔ wan pan ɛvri 50,000 pikin dɛn we dɛn bɔn layf layf wan. Bɔt dɔktɔ dɛn biliv se sɔm pikin dɛn we gɛt dis sik kin go we dɛn nɔ no se dɛn gɛt dis sik. Dis na bikɔs if de sik nɔr kin pasmak, dɛn kin mistek kɔl am ɔda kayn sik. Ɔ, dɛn nɔ kin ivin no se dɛn gɛt fɔ du wit (CdLS).

Wetin na di sayn dɛm wae de sho se yu gɛt Cornelia de Lann syndrome?

As wi bin dɔn tɔk, dis sik nɔ kin afɛkt ɔl pikin di sem we. Di sayn dɛm kin difrɛn frɔm wan pikin to ɔda pikin. If yu pikin gɛt dis sik, yu kin notis wan ɔ mɔ pan dɛn sayn ya.

Speshal tin dɛn we yu kin si na di fes ɛn ed

wi kכl dεn ya `(Distinkt kraniofashal fכm dεm)`.

• di aylash dεm kin lεk se dεn jכyn na di midul εn kכba כp (dεn kכl dis `(synophrys)`).
• Di aylash dɛn rili lɔng.
• di ia lob dεm de posishכn lכw pas nכmal.
• Di tit dɛn smɔl ɛn big gap de bitwin dɛn.
• Di nos kin smɔl ɛn tɔn ɔp.
• ed we sכm pas nכmal (dכkta dεn kכl dis ``maykrosεfali'').
• Fɔ gɛt cleft palata (dis nɔ kin apin to ɔlman, bɔt sɔm pipul dɛn kin apin).

Nyurodivεlכpmεnt fכm dεm

• Divɛlɔpmɛnt dilɛys. Dat min se tin dɛn lɛk fɔ nɔ kray we yu ol, nɔ fɔ waka we yu de waka.
• Bɔrku pipul kin gɛt mɔdaret to siriɔs intɛlektual disabiliti , we min se dɛn kin gɛt sɔm prɔblɛm wit tin dɛm lɛk fɔ lan ɛn ɔndastand.

Saykayatrik ficha dɛm

• Dɛn kin sho di kayn we aw dɛn de biev we fiba di wan dɛn we de na ``(Autism spectrum disorder)'' . Fɔ ɛgzampul, dɛn nɔ kin want fɔ tɔk to ɔda pipul dɛn ɛn dɛn kin ripit di sem tin dɛn bak ɛn bak.
• Di sayn dɛm we fiba di wan dɛm wae de kam wit wan sik wae dɛn kɔl Attention-deficit/hyperactivity disorder (ADHD) .
• Di prɔblɛm dɛn we kin mek pɔsin wɔri.

Ɔda kɔmɔn tin dɛn we pɔsin kin si

Apat frɔm dis, di sik we dɛn kɔl Cornelia de Lann syndrome kin kam wit ɔda prɔblɛm dɛn:

• Slow growth bifo ɛn afta dɛn bɔn am. Dis kin mek dɛn shɔt.
• Sɔm tin dɛn we nɔ kin apin na di an, finga, ɛn bon dɛn na di an.
• Fɔ gɛt mɔ ia pas aw i fɔ gɛt na di bɔdi (hirsutism).
• I nɔ de yɛri fayn igen.
• Prɔblɛm dɛn we de na di dijestiv sistɛm. Fɔ ɛgzampul, kronik asid riflɔks (GERD).
• Abnɔmal tin dɛn we de apin na di bɔdi. lεk di tεstikul dεm we nכ dכn dכn insay bכy pikin dεm (cryptorchidism).
• Di we aw pɔsin nɔ de si fayn. Fɔ ɛgzampul, fɔ si tin dɛn we de nia (myopia).
• Seizures (wi kin kɔl dɛm `seizures`).
• At sik. Fɔ ɛgzampul, fɔ gɛt ol na yu at.

Wetin kin mek pɔsin gɛt di sik we dɛn kɔl Kɔnɛlia de Lan?

dis kכndyushכn kin kכz fכ wan harmful chenj (pathogenic variant) insay wan pan sεvin jin dεm . dis jin dεm na NIPBL, SMC1A, HDAC8, RAD21, SMC3, BRD4, εn ANKRD11. tכgeda, dεn jin dεm ya de εp sכmtin we dεn kכl di kכhesin kכmpleks fכ wok fayn fayn wan.

Naw yu kin de wɔnda wetin dis `(cohesin complex)` bi. Fɔ tɔk am simpul wan, dis na wan grup we gɛt prɔtin dɛn we de ple rili impɔtant wok we di pikin de divɛlɔp na di bɛlɛ.dis na di tin we de kכntro di jin dεm we i nid fכ divεlכp di pikin in an, in fes, εn כda pat dεm na in bכdi fayn fayn wan. so, if chenj de insay eni wan pan di jin dεm we wi bin dכn tכk bכt, di fכnshכn fכ dis `(cohesin complex)` go bכku. Dɔn, i go ambɔg di pikin in fɔs divɛlɔpmɛnt.

bitwin 60% εn 80% pan di pipul dεm we gεt `(CdLS)` gεt dis kכndishכn bikoz fכ chenj na di `NIPBL` jin. Di sik nɔ kin kam bikɔs ɔf di chenj dɛn we de apin na di ɔda siks jin dɛn. fכ כda 5% to 20% pan pipul dεm, dεn nכ no yet di jεnεtik kכz fכ dis kכndyushכn.

Bɔrku tɛm, pikin dɛm wae gɛt dis sik nɔr kin gɛt dis sik na dɛn famili. dis min se bכku tεm na nyu jεnεtik chenj (dεn kכl am `de novo mutation`). Bɔt if wan mama ɔ papa gɛt smɔl smɔl sayn dɛm fɔ dis sik, dɛn kin gɛt 50% chans fɔ bɔn pikin wit di sik. Semweso, if mama ɛn papa we gɛt wɛlbɔdi gɛt pikin we gɛt `(CdLS)`, dɛn se di risk fɔ gɛt ɔda pikin we gɛt di sik de bitwin 1% ɛn 1.5%.

Us kɔmplikɛshɔn kin apin bikɔs ɔf dis kɔndishɔn?

Bikɔs di sik we dɛn kɔl Cornelia de Lann syndrome kin afɛkt difrɛn pat dɛn na di bɔdi, difrɛn prɔblɛm dɛn kin apin.

Prɔblɛm dɛn we de na di dijestiv sistɛm

• Duodenal atresia: Na di fכs pat pan di pikin in sכmכl intestכn we de blok.
• Congenital diaphragmatic hernia: Na ol na di pikin in dayafragm (di mכsul we de separet di chεst εn di bεlε).
• `(Malrotation)`: na abnכmal tin na di we aw di pikin in intestin dεm de fכm.
• Pyloric stenosis: di say we opin frכm di pikin in bεlε to di sכmכl intestכn de sכm.
• Inguinal hernia: wan pat pan di pikin in intestכn de push tru wan opin na di bכdi wכl insay di groin εria.
• Barrett’s esophagus: Na wan sik we kin apin bikɔs ɔf siriɔs GERD.

Prɔblɛm dɛn we gɛt fɔ du wit di uman dɛn we de na di bɔdi

• Cryptorchidism: na di kכndyushכn we di tεstikul dεm fכ man pikin nכ de dכn insay di skrotum bifo dεn bכn am כ sכm tεm afta dεn bכn am.
• `(Hypospadias)`: pan man pikin dεm, di urethra nכ de opin na di kכrekt ples na di penis.
• `(Renal hypoplasia)`: wan כ tu pan di pikin in kidni dεm sכm sכm pas nכmal.

Prɔblɛm dɛn we gɛt fɔ du wit di yay

• `(Ptosis)`: I nɔ ebul fɔ opin di yay fayn fayn wan bikɔs di ɔpa aylid de drɔp dɔŋ.
• Blepharitis: Na inflamɛns ɛn infɛkshɔn na di aylid.
• di we aw yu de si fayn: fכ egzampl, kכndishכn dεm lεk `(astigmatism)` (blכr vishכn bikoz fכ di kכva fכ di כta layεr na di yay).

Aw dɛn kin no se i gɛt di sik we dɛn kɔl Kɔnɛlia de Lan?

Yu pikin in dɔktɔ kin ebul fɔ no dis sik jɔs afta dɛn bɔn am ɔ jɔs afta dat . Di dɔktɔ go chɛk yu pikin in bɔdi, asɛs di sayn dɛm, ɛn aks bɔt yu famili in mɛdikal istri.

Bɔt, di pikin in sayn dɛnIf e nɔr kin tranga fɔ no bɔt de sik. If na so i bi, di dɔktɔ kin aks fɔ mek dɛn du di jenɛtik tɛst fɔ no if pɔsin gɛt di sik.

Na smɔl tɛm nɔmɔ dɛn kin no dis sik bifo dɛn bɔn di pikin. Dɛn kɔl dis we dɛn de tɛst di jɛnɛtiks bifo dɛn bɔn pikin . I kin no di jεnεtik mכtεshכn dεm we de mek dis kכndyushכn.

Aw dɛn kin trit di sik we dɛn kɔl Kɔnɛlia de Lan in sik?

Di tritmɛnt fɔ dis sik kin difrɛn frɔm wan pikin to ɔda pikin, i kin dipen pan di sayn dɛm we ɛni pikin gɛt. Bikɔs dis sik kin afɛkt bɔku pat dɛn na di bɔdi, wan tim fɔ dɔktɔ dɛn go wok togɛda fɔ plan tritmɛnt. Di tritmɛnt kin inklud:

Nutrishɔn ɛn it

• fכ put gastrostomy tכb fכ gi fכmula we gεt hכy kalori εn/כ it fכ mek di pikin nכ delay fכ gro.
• Aks advays frɔm pɔsin we sabi bɔt it fɔ tɔk bɔt aw i nɔ izi fɔ it.

Ɔpreshɔn

• Di bon dɛn we nɔ de wok fayn.
• Prɔblɛm dɛn we de na di dijestiv sistɛm.
• At sik.
• Klɛft palata.
• Testikul dɛn we nɔ de kam dɔŋ.

I kin nid fɔ du ɔpreshɔn fɔ trit tin dɛn lɛk dis.

Mɛrɛsin dɛn we dɛn kin yuz

• Antikonvulsant drɔgs kin kɔntrol ɔ mek yu nɔ gɛt sik (kɔnvulshɔn).
• Antidipreshan fɔ kɔntrol aw pɔrsin de fil bad ɔr de agresiv bihayvya.
• Antibayɔtik de trit infɛkshɔn dɛn we de na di we aw pɔsin de blo.

Sɔm dijestiv ɛn at sik dɛn kin trit bak wit mɛrɛsin.

Di tritmɛnt dɛn we dɛn kin gi

Dɛn tritmɛnt ya nid fɔ kɔntinyu fɔ de ɔlsay na di pikin in layf. difrεn tεm dεm kin yus fכ adrεs di dilayshכn dεlay, intellektual disabiliti, εn di prכblεm dεm we di pikin de biev. Dɛn tin ya kin bi:

• Fizik tɛrapi.
• Ɔkupeshɔnal tɛrapi.
• Tɛrapi fɔ tɔk.
• Saykotɛrapi.

pan tap dat, nid de f כ kכntinyu fכ ases εn monitar fכ sכm aktiviti dεm εn divεlכpmεnt dilay dεm tru di pikin in layf. Dis inklud:

• Test fɔ yɛri ɛn si.
• di gכt εn saykomotכr divεlכpmεnt (we de wok lεk aw pכsin de tink).
• At ɛn kidni de wok.
• di wok we di dijestiv sistεm de du.

Dɔktɔ dɛn fɔ chɛk dɛn tin ya ɔltɛm.

Wetin na di layf we pɔsin we gɛt Cornelia de Lann syndrome kin liv?

De layf wae pipul dɛm wae gɛt dis sik kin liv na nɔrmal tin.Bɔrku pikin dɛm wae gɛt dis sik kin liv fayn fayn wan te dɛn big. Bɔt if di pikin gɛt sɔm pan di sik dɛn we kin rili bad (espɛshali at ɛn trot prɔblɛm), i kin mek dɛn layf shɔt smɔl.

Big pipul dɛm wae gɛt CdLS kin nid fɔ kɔntinyu fɔ gɛt mɛrɛsin ɔlsay na dɛn layf. If kɔmplikeshɔn de kam, di prɔgnosis de dipen pan aw i siriɔs ɛn di tritmɛnt.

Yu tink se dɛn go ebul fɔ mek dis tin nɔ apin?

Bikɔs na wan sik we pɔsin kin gɛt frɔm in jɛnɛtiks, dɛn nɔ kin ebul fɔ avɔyd di sik we dɛn kɔl Cornelia de Lann syndrome. If yu de plan fɔ gɛt bɛlɛ ɛn yu want fɔ no yu risk fɔ bɔn pikin wit dis sik, tɔk to yu dɔktɔ bɔt aw fɔ advays yu jɛnɛtiks ɔ fɔ tɛst yu jɛnɛtiks .

Na nɔmal tin fɔ fil shɔk ɛn sɔri we yu kam fɔ no se yu pikin gɛt wan sik we nɔ kin apin so ɔltɛm. Bɔt mɛmba se bɔku pan di pikin dɛn we gɛt Kɔnɛlia de Lan sindrom kin liv ful layf ɛn dɛn kin go bifo te dɛn big.

Wae dεn dכn no yu pikin in sik, yu dכkta go tכk to yu bכt difrεn tritmεnt dεm. Yu kin nid bak fɔ wok wit wan tim we gɛt spɛshal pipul dɛn. Di tin we impɔtant pas ɔl na fɔ lan bɔku tin bɔt yu pikin in kɔndishɔn ɛn tek di lid fɔ gi di bɛst kia we yu go ebul fɔ kia fɔ.

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

Okay, so lɛ wi sɔmariz sɔm pan di men pɔynt dɛn we yu nid fɔ mɛmba frɔm wetin wi dɔn tɔk bɔt:

• Cornelia de Lan syndrome (CdLS) na wan sik wae nɔr kin bɔrku pan jɛnɛtiks.
• Dis kin afɛkt di we aw di pikin de luk, aw i de gro, aw i gɛt sɛns, ɛn aw i de biev .
• Di sayn dɛm kin difrɛn frɔm wan pikin to di ɔda pikin ; sɔm nɔ kin at fɔ ɔndastand, sɔm kin rili bad.
• Di rizin na we di jin dɛn chenj.
• Di tritmɛnt dipen pan di pikin in sayn dɛm. Dɛn kin yuz difrɛn we dɛn fɔ mɛn am, lɛk ɔpreshɔn if nid de, ɛn mɛrɛsin.
• Pan ɔl we dɛn nɔ go ebul fɔ stɔp dis sik, if dɛn gi yu advays bɔt yu jɛnɛtiks , dat kin ɛp yu fɔ no bɔt di prɔblɛm we yu gɛt.
• If dɛn no dɛn pikin ya kwik kwik wan, trit dɛn fayn, ɛn kia fɔ dɛn wit lɔv, dat kin ɛp dɛn fɔ liv layf we gɛt minin.

If yu gɛt ɛni ɔda kwɛstyɔn ɔ tin we de mɔna yu bɔt dis, mek shɔ se yu tɔk to yu famili dɔktɔ ɔ dɔktɔ we de mɛn pikin dɛn. Dɛn go gi yu di gayd we yu nid.

` Cornelia de Lanne syndrome, CdLS, jεnεtik sik dεm, pikin hεlth, divεlכpmεnt dεlay, fyzikal fכm, sik dεm we nכ kin apin