Wetin na di sik we dɛn kɔl Apert Syndrome? Yu pikin gɛt dɛn sik ya? Mek wi tok!

Yu dɔn notis ɛnitin we nɔ kɔmɔn na yu pikin we dɛn jɔs bɔn in ed, in fes, ɔ in an ɛn fut dɛn? Sɔntɛnde, as mama ɛn papa, wi kin wɔri smɔl we wi si dɛn tin ya, nɔto so? I rili kɔmɔn. Tide, wi go tɔk bɔt Apert syndrome , we na wan sik we nɔ kin apin so ɔltɛm we kin afɛkt pikin dɛn we dɛn bɔn wit sɔm pan dɛn chenj ya na dɛn bɔdi. Nɔ wɔri, lɛ wi ɛksplen ɔltin insay simpul wɔd dɛn.

Wetin rili na Apert Syndrome?

Fɔ tɔk am simpul wan, Apert syndrome na wan sik we nɔ kin apin so ɔltɛm we di jɔyn dɛn bitwin di bon dɛn na yu pikin in skel, ɔ wetin wi kɔl ‘sutures’, kin fuz togɛda bifo dɛn ebul fɔ divɛlɔp . Dɔktɔ dɛn kɔl dis krayniasaynɔstosis . we di sutura dεm kכloz tu kwik, di sכkul nכ de gεt inof rum fכ εkspכnd as di pikin in bren de gro. dis kin mek chenj nכto כnli pan di shep fכ di sכkul, bכt to tin dεm lεk di bon dεm na di fes, di finga dεm, εn di tכd dεm.

Tink bɔt am lɛk smɔl tik we de gro na ol na grɔn, ɛn i nɔ ebul fɔ gro fri wan. Dis na jεnεtik kכndishכn , we min se na di jεnεtik kכndishכn de kכz am. sכmtεm dεn kin inhεrit am as ‘autosomal dominant’ trayt . Dis min se if wan mama ɔ papa gɛt di jɛnɛtik chenj, 50% chans de fɔ mek dɛn pikin sɛf gɛt di sik.

Udat dɛn kin gɛt dis sik we dɛn kɔl Apert Syndrome?

Apert syndrome na wan sik we nɔ kin apin so ɔltɛm . bכku tεm, i kin kכz fכ wan jεnεtik mכtεshכn we kin apin ali we uman bεlε. dis mכtεshכn kin kכmכt frכm di mama εn papa כ i kin apin de novo. Di impɔtant tin na fɔ ɔndastand se dis nɔto sɔntin we di mama bin du we i gɛt bɛlɛ, ɛn nɔto sɔntin we kin apin to am. So nɔ blem yusɛf.

Aw kɔmɔn tin dis?

Dis na rili tin we nɔ kin apin so ɔltɛm. Statistikin sho se na lɛk wan pan ɛvri 65,000 pikin dɛn we dɛn bɔn gɛt Apert syndrome. So yu kin si aw dis sik nɔ kin apin so ɔltɛm.

Wetin na di sayn dɛm fɔ pikin we gɛt Apert Syndrome?

Bikɔs di sutura dɛn we de na di pikin in skel kin lɔk bifo tɛm, we na wan sik we dɛn kɔl kraniosynostosis, di pikin kin gɛt sɔm difrɛn tin dɛn. Dɛn tin ya kin difrɛn smɔl frɔm wan pikin to ɔda wan. Di men tin dɛn we pɔsin kin si na:

• Skul: .
• di pikin in ed kin tan lɛk se i lɔng pas aw i kin bi, wit wan tip we gɛt pɔynt (dɛn kɔl dis akrosɛfali) .
• Di bak pat pan di ed kin flat.
• Di fɔrɛst kin tan lɛk ay ɔ wayd.
• di ‘sכft spat' כ ‘fכlikul' we de na di pikin in ed kin delay fכ kכloz.
• Yay:
• Di yay dɛn kin de fa fawe na di fes pas aw i kin de.
• I kin tan lɛk se di yay dɛn de bɔl ɔ dɛn de slan dɔŋ.
• Fes:
• Di nos kin flat ɔ i kin tan lɛk mɔt.
• I kin bi se wan cleft palata de .
• Di fes kin tan lɛk se i nɔ simɛtrik na ɔl tu di say dɛn.
• An ɛn fut: .
• Di finga dɛn kin shɔt ɛn di big tɔ kin wayd.
• di finga dεm כ di fut dεm kin fכs tכgeda כ kכnekt bay skin (dεn kכl dis syndactyly) , lεk swimin wεb.

Mɛmba se nɔto ɔl pikin go gɛt ɔl dɛn sik ya. Dɔktɔ na di wan we kin ebul fɔ no dɛn sik ya kɔrɛkt wan ɛn no di sik.

Aw ɔda tin we Apert Syndrome kin afɛkt di pikin in bɔdi?

Dis kכndyushכn nכ de nכmכ de mek di pikin in lukinכs chenj, bכt i kin afekt כda כgan dεm na di bכdi.

• Bren: As di skel de klos kwik kwik wan, prɛshɔn kin bɔku pan di bren. dis kin afekt di pikin in lanin εn tink skil dεm ( kכgnitiv divεlכpmεnt ). Mild to moderate intellectual disabilities kin apin bak.
• Iya: Bɔku tɛm, na di bon dɛn we de na di tu say dɛn na di pikin in ed na dɛn fɔs kin lɔk. Dis kin afɛkt di we aw di yes dɛn de divɛlɔp, ɛn dis kin mek yu yes gɛt infɛkshɔn ɔltɛm ɔ yu nɔ kin yɛri fayn.
• Ay: Prɔblɛm fɔ si kin apin bikɔs ɔf di yay dɛn we de kɔmɔt na do, we de slan, ɔ we de fa.
• di lכng dεm: dipכnt pan aw di kכndyushכn siriכs, di shep fכ di nos kin mek i at fכ brith כ slip apnea ( sכfכkshכn biכs fכ bכn di aywe we yu de slip).
• Skin: Yu pikin in skin kin mek mɔ ɔyl, we kin mek i gɛt siriɔs akni. Yu kin notis bak se yu de swet pasmak ( hyperhidrosis ) ɛn yu ia de lɔs na sɔm say dɛn (fɔ ɛgzampul, ɔnda yu aybrɔw).
• Tit: We pikin bigin fɔ tit, i nɔ kin gɛt bɛtɛ ples na in mɔt ɛn di tit dɛn kin ful-ɔp pasmak. Dis kin mek yu gɛt prɔblɛm wit yu tit. Sɔm tit dɛn kin nɔ de ɛn i kin gɛt tin dɛn we nɔ de apin ɔltɛm na di ɛnamel na di tit dɛn.

Wetin kin mek pɔsin gɛt Apert Syndrome?

di men rizin fכ dis na FGFR2 (Fibroblast growth fכktכ rεsεptכr-2).wan mכtεshכn na di jin we dεn kכl fibroblast growth factor. dis jin na in de mek wi bכdi in skel sistεm de divεlכp. we dis jin de mute, dεn rεsεpכta dεm ya nכ de kכmכnik fayn wit signal dεm we dεn kכl ‘fibroblast growth factors’. dis de mek di joyn dεm (sutures) bitwin di bon dεm de kכloz kwik kwik wan we di εmbrayo de stej. Pan ɔl we dɛn sutura ya kin lɔk kwik kwik wan, di pikin in bren kin kɔntinyu fɔ gro. Dɔn di bon dɛn na di skel, mɔ di bon dɛn na di fɔɛd ɛn di sayd dɛn na di ed, kin fɔm we nɔmal. di we aw dεn bon dεm ya nכ de fכm rεgulεr na in de mek difrεn difכm dεm na di bכdi.

Aw dɛn kin no se pɔsin gɛt Apert Syndrome?

Bɔrku tɛm, dɛn kin no dis sik afta dɛn bɔn di pikin. כltu, sכmtεm dεn kin no am ali we uman bεlε, bay we dεn luk di pikin in bon divεl כpmεnt wit 2D כ 3D כltra saund bifo i b כn כ MRI skan .

Afta di pikin dɔn bɔn, di dɔktɔ go du wan kɔmplit fizik ɛgzam fɔ chɛk fɔ ɛni abnɔmal tin na di pikin in bɔdi. Dɔn, dɛn go du imej tɛst , lɛk CT skan ɔ MRI , fɔ no if dɛn bɔn dɛn ya.

Di dɔktɔ go tɛl yu bak se dɛn fɔ tɛst yu jɛnɛtiks . dis go chεk fכ mכtεshכn na di FGFR2 jin we wi bin dכn tכk bכt. Dis go kɔnfirm di diagnosis mɔ. כl di nכmal nyu bכbi skrinin dεm go du fכ dis pikin. Mɔtalman, bikɔs dis sik kin mek pɔsin nɔ ebul fɔ yɛri fayn, dɛn go pe spɛshal atɛnshɔn to tɛst fɔ yɛri .

Aw dɛn kin trit Apert Syndrome?

Di tritmɛnt we dɛn kin pik kin dipen pan aw yu pikin in sik tranga. Bɔrku tɛm, ɔpreshɔn na di men tritmɛnt fɔ ridyus di sayn dɛm.

• If sayn dεm de fכ prכblεm we de afekt di sכkul כ di bren (craniosynostosis כ hydrocephalus - we wata de kכmכt na di bren): Bitwin tu εn 4 mכnt afta dεn bכn am, dεn kin du כpεrayshכn fכ pul di wata we dεn kכlכm na di bren εn put wan sכm sכm tכb ( shunt ) fכ ridyus di prεshכn.
• Rikɔnstrɔktiv ɔ kɔrɛkt ɔpreshɔn:
• Ɔpreshɔn fɔ kɔrɛkt di yay dɛn.
• Jaw bon rikostrɔkshɔn ɔpreshɔn ( ɔsteotomy ).
• Chin plastic ɔpreshɔn ( genioplasty ).
• Plastik ɔpreshɔn fɔ di nos ( raynoplasti ).
• Ɔpreshɔn fɔ separet finga ɛn fut finga dɛn we dɛn dɔn fuz togɛda.
• Ɔpreshɔn fɔ kɔrɛkt di shep we di skel gɛt ( cranioplasty ).

Ɔda tritmɛnt dɛn de fɔ ridyus di bad tin dɛn we kin apin to pɔsin?

Yɛs, na fɔ tru. Yu pikin kin ebul fɔ du ɔl wetin i ebul fɔ du if yu bigin di tritmɛnt we yu nid kwik kwik wan, lɛk aw yu dɔktɔ tɛl yu. Tritmɛnt dɛn lɛk dis na:

• Ɛp fɔ yɛri if yu nɔ de yɛri fayn.
• If i nɔ izi fɔ yu fɔ blo bikɔs di say we yu de blo nɔ de blo, yu kin nid fɔ yuz mashin fɔ blo ɔ ɔda tritmɛnt .
• Scheduled apɔntinmɛnt wit difrɛn thɛrapist dɛn. Fɔ ɛgzampul, fizik tritmɛnt , wok tɛrapi, ɛn tɔk tɛrapi .
• Fɔ tek spɛshal kia fɔ di pikin in mɔt ɛn in tit.
• Rigyul vishɔn asɛsmɛnt bikɔs ɔf ay prɔblɛm.

Yu tink se Apert Syndrome kin wɛl ɔltogɛda?

Bɔt i sɔri fɔ no se naw, no mɛrɛsin nɔ de fɔ mɛn di sik we dɛn kɔl Apert syndrome. Bɔt ɔpreshɔn kin ridyus di sik bad bad wan ɛn ɛp di pikin fɔ liv nɔmal layf.

Ɛnitin de we a kin du fɔ ridyus di risk fɔ mek mi pikin gɛt Apert Syndrome?

Bikɔs Apert syndrome na wan jenɛtik kɔndishɔn, rili natin nɔ de we mama ɛn papa kin du fɔ mek i nɔ apin we dɛn gɛt bɛlɛ. Bɔt if yu de plan fɔ bɔn pikin, yu kin go to dɔktɔ fɔ advays yu bɔt yu jɛnɛtiks fɔ si if yu de pan denja fɔ pas di sik to yu pikin. Jɛnɛtik kɔyl kin ɛp yu fɔ ɔndastand aw yu go gɛt pikin we gɛt dis sik tumara bambay ɛn gi sɔpɔt to nyu mama ɛn papa.

Wetin a fɔ ɛkspɛkt if mi pikin gɛt Apert Syndrome?

Apert syndrome na wan sik wae de kam wae yu de liv yu layf ɛn nɔr de fɔ mɛn am. Bɔku tɛm, di pikin kin nid ɔpreshɔn fɔ mek i nɔ gɛt prɛshɔn pan in bren we i bɔn am, dɔn dɛn kin du am bɔku ɔpreshɔn fɔ mek i bil am bak. Klos fɔ fala wit difrɛn spɛshal pipul dɛn impɔtant.

Bɔt if dɛn du ɔpreshɔn ɛn kɔntinyu fɔ gɛt tritmɛnt, di pikin dɛn we dɛn bɔn wit Apert syndrome kin liv nɔmal layf. Dɛn fɔ de tɔk to dɛn dɔktɔ ɔltɛm fɔ tɔk bɔt ɛni prɔblɛm we dɛn go gɛt as dɛn de gro. As yu pikin de gro, dɛn fɔ de chɛk in yay, in tit, ɛn aw i de yɛri ɔltɛm. Sɔntɛnde, dɛn kin nid fɔ du mɔ ɔpreshɔn fɔ trit di sik dɛn we de kɔntinyu fɔ de.

Ustɛm a fɔ go to mi dɔktɔ?

If yu notis ɛni wan pan dɛn sayn ya na yu pikin, go to dɔktɔ wantɛm wantɛm:

• If i nɔ izi fɔ yu fɔ blo .
• If yu gɛt infɛkshɔn na yu yes ɔltɛm ɔ yu nɔ kin izi fɔ lisin to simpul kɔmand.
• I fit di ej we yu olIf dɛn nɔ rich di divɛlɔpmɛnt maylston dɛn.
• If di say we dɛn du di ɔpreshɔn gɛt di sik (rɛd, swel, lɛk pus).

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

Tɔk bɔt ɛni kwɛstyɔn ɔ tin we de mɔna yu wit yu dɔktɔ. Fɔ ɛgzampul, yu kin aks kwɛstyɔn dɛn lɛk:

• Us tritmɛnt yu kin advays fɔ mek dɛn no se mi pikin gɛt di sik?
• Wetin na di prɔblɛm dɛn we kin apin we pɔsin du ɔpreshɔn?
• Di shep we mi pikin in ed shep de afɛkt di we aw i de lan?
• If a gɛt ɔda pikin, chans de fɔ mek da pikin de gɛt Apert syndrome bak?

Us ɔda tin dɛn wae tan lɛk Apert Syndrome?

sכm pan di simptom dεm fכ Apert sεndrכm kin lεk כda kכndyushכn dεm we di sכkul bon dεm de fכm kwik kwik wan we di pikin de divεlכp (craniosynostosis). Sɔm pan dɛn tin ya na:

• Carpenter syndrome: Semweso lɛk Apert syndrome, dis na wan sik we di pikin in skel kin fuz togɛda bifo tɛm, we kin mek in skel nɔ de wok fayn. I kin mek bak sindakti (finga ɛn fut finga dɛn we jɔyn togɛda). di difrεns na dat Carpenter syndrome de apin we di mama εn papa dεn tu pas di jin to di pikin (autosomal recessive).
• Crouzon syndrome: Dis kin mek bak di fes nɔ de wok bikɔs di pikin in skel de fuz togɛda tumɔs kwik.
• Pfeiffer syndrome: Insay dis kכndyushכn, wit di sכkul εn fes we nכ de nכmal, di big fut dεm εn di big fut dεm kin wayd pas di כda fut dεm εn kin kכba fa frכm di כda fut finga dεm.
• Saethre-Chotzen syndrome: Dis na wan kכndyushכn we di sכkul bon dεm de fכs tכgeda bifo tεm, we de mek di fes fכm we nכ ivin, we nכ de simetrik.

Wetin na di difrɛns bitwin Apert Syndrome ɛn Crouzon Syndrome?

Apert syndrome ɛn Crouzon syndrome gɛt sɔm pan di sem tin dɛm. כl tu de kכz fכ di sכkul jכint dεm bifo tεm we di pikin de divεlכp. insay di tu kכndishכn dεm, di sכkul kin shep abnכmal, εn di fes kin tan lεk se i sכnk insay (midface hypoplasia). Bɔt di men difrɛns na dat, insay Apert syndrome, ɔda pat dɛn na di bɔdi kin afɛkt apat frɔm di skel, mɔ di syndactyly, we na wan kɔndishɔn we di finga dɛn ɛn di fut finga dɛn kin jɔyn togɛda. Insay Crouzon syndrome, di shep fɔ di skel kin afɛkt mɔ.

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

Apert syndrome na wan jεnεtik kכndyushכn we kin mek di pikin in apiyans εn sכm pan dεn bכdi wok chenj. Pan ɔl we no mɛrɛsin nɔ de, ɔpreshɔn ɛn difrɛn tritmɛnt dɛn kin ɛp fɔ kɔntrol di sik dɛn ɛn ɛp di pikin fɔ liv lɛk aw i nɔmal ɛn ful layf as i pɔsibul.

If pɔsin na yu famili gɛt Apert syndrome ɛn yu de op fɔ bɔn pikin, i rili impɔtant fɔ go to jenɛtik advays . Dis go gi yu di infɔmeshɔn ɛn gayd we yu nid.

Di tin we impɔtant pas ɔl na fɔ no se nɔto yu wangren de. Yu kin gɛt sɔpɔt frɔm dɔktɔ, advaysa, ɛn mama ɛn papa dɛn we gɛt pikin dɛn we gɛt di sem kayn sik. Nɔr frayd fɔ tɔk to yu dɔktɔ bɔt ɔltin wae de na yu maynd.

` Apert Syndrome, Apert Syndrome, Jɛnɛtik Disizin, Skul Difɔmiti, Limb Difɔmiti, Pikin Wɛlbɔdi, Kraniosynostosis