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Ðe dzesi siawo le viwòa ŋua? Mina míasrɔ̃ nu tso Cohen ƒe Dɔlélea ŋu.

Ðe dzesi siawo le viwòa ŋua? Mina míasrɔ̃ nu tso Cohen ƒe Dɔlélea ŋu.

Èbu nusita ɖevi aɖewo ƒe nuwɔna kple tsitsi to vovo na bubuwo tɔ ŋu kpɔa? Ɣeaɖewoɣi la, ŋutinya gã aɖe ate ŋu anɔ nu suewo gɔ̃ hã megbe. Egbea, míele nu ƒom tso domenyiŋusẽfianu ƒe nɔnɔme aɖe si gblẽa nu geɖe le ɖeviwo ŋu, abe woƒe dzedzeme, tsitsi, kple lãmekawo ƒe ŋusẽ ene ŋu. Woyɔa nɔnɔme sia be Cohen Syndrome.

Nukae nye Cohen ƒe Dɔléle?

Kpuie ko la, Cohen Dɔléle nye dɔléle si domenyiŋusẽfianu ƒe tɔtrɔ hena vɛ. Ate ŋu agblẽ nu le ŋutilã ƒe akpa geɖe ŋu, siwo dometɔ aɖewoe nye nukpɔkpɔ, ɖevi ƒe tsitsi, lãmekawo ƒe dɔwɔwɔ, kple susu ƒe ŋutete. Ate ŋu ahe ŋutilã me dzesiwo abe ta sue, taɖa ɣi, kple kɔkɔme kpui ene hã vɛ.

Ðevi siwo wodzi kple dɔléle sia ƒe tsitsi tsia megbe . Esia fia be nuwo abe ʋuʋu, azɔlizɔzɔ, kple nuƒoƒo ene ate ŋu atsi megbe wu alesi wokpɔ mɔe. Le kpɔɖeŋu me, togbɔ be xɔ̃wòa ƒe vi ate ŋu anɔ ʋuʋum le ɣleti ade megbe hã la, vidzĩ si ŋu dɔléle sia le ate ŋu axɔ ɣeyiɣi didi wu. Ke hã, togbɔ be wohea ɖevi siawo ɖe megbe alea hã la, zi geɖe la, woƒe nu nyoa ame ŋu ŋutɔ, wokpɔa dzidzɔ, eye wonyea hadomenuwɔnawo. Woɖea lɔlɔ̃ fiana ame ŋutɔ ne woko alɔgbɔnu heƒoa nu.

Domenyiŋusẽfianu ƒe tɔtrɔ aɖe gbɔe esia tsona, eye fifia la, womate ŋu adae o. Togbɔ be amesiwo ŋu Cohen Dɔlélea le ƒe akpa gãtɔ nɔa agbe si sɔ hã la, woahiã kpekpeɖeŋu aɖe le woƒe agbemeŋkekewo katã me.

Aleke gbegbee nɔnɔme sia bɔe be Cohen Syndrome?

Le nyateƒe me la, Cohen ƒe Dɔlélea menye dɔléle si bɔ ŋutɔ o. Numekuku aɖewo ɖee fia be ame siwo mede 1,000 o ye ŋu dɔléle sia le le xexeame katã. Gake esi wònye be zi geɖe la, womekpɔa dɔlélea dzea sii nyuie o ta la, xexlẽme ŋutɔŋutɔ ate ŋu asɔ gbɔ wu ema kura. Eya ta ele vevie be míanya nɔnɔme siawo.

Nukawoe nye Cohen Dɔléle ƒe dzesiwo?

Dzesi kple dzesi vovovowo li siwo ɖea Cohen Dɔlélea fiana. Ele vevie be míaɖo ŋku edzi be menye amesiamee akpɔ dzesiawo katã o. Mina míalé ŋku ɖe dzesi vevi siwo woate ŋu akpɔ ŋu:

  • Susu ƒe tsitsi ƒe kuxiwo: Esia fia be exɔa ɣeyiɣi didi vie hafi woate ŋu asrɔ̃ nuwo ahase wo gɔme. Ðewohĩ àhiã kpekpeɖeŋu bubu le sukudɔwo wɔwɔ me.
  • Lãmetsiwo ƒe gbɔdzɔgbɔdzɔ (hypotonia): Gbɔdzɔgbɔdzɔ alo lãmetutudɔ ƒe seselelãme le ŋutilã me. Woate ŋu ase esia ne wole vidzĩ kɔm gɔ̃ hã.
  • Hypermobility: Ƒunukpeƒewo ƒe asitɔtrɔ le nɔnɔmewo ŋu fũ akpa. Ðevi aɖewo ate ŋu abɔbɔ woƒe abɔwo le mɔ wɔnukuwo nu.
  • Myopia (nukpɔkpɔ kpuie) si dzina ɖe edzi ne ame tsi: Nuwo kpɔkpɔ le kpuie gake womekpɔa nuwo le didiƒe nyuie o. Esia dzina ɖe edzi ne ame tsi, eyata ele vevie be woado ŋku kpɔ edziedzi.
  • Retinal dystrophy alo chorioretinitis: Nu gblẽ le ŋku ƒe akpa si kpena ɖe ame ŋu be wòakpɔ nu ŋu. Esia ate ŋu ana ame ƒe ŋkuwo nabu vivivi.

Dzesi siwo vidzĩ siwo wodzi yeyee ate ŋu akpɔ

Àte ŋu akpɔ nu siawo tɔgbe le vidzĩ siwo wodzi yeyee ŋu:

  • No nana ƒe sesẽ: No nana vidzĩa ƒe sesẽ.
  • Avifafa si gbɔdzɔ alo esi nu sẽ: Vidzĩa ƒe avifafa ate ŋu ato vovo, agbɔdzɔ wu alesi wònɔna ɖaa.
  • Yagbɔgbɔ sesẽna: Gbɔgbɔ sesẽna na vidzĩa.
  • Lolo dzi ɖeɖe kpɔtɔ sesẽ: Vidzĩa ƒe lolo mele dzidzim ɖe edzi nyuie o.

Vevietɔ ŋutɔ: Ne gbɔgbɔ le sesẽm na viwòa alo edze abe eƒe blɔ le blɔ ene la, ƒo ka na 119 alo wò nutoa me xexlẽdzesi kpata enumake eye nàkplɔe ayi kɔdzi.

Tsitsi ƒe megbetsitsi kple nuwɔna

Ðewohĩ ɖeviwo ahiã ɣeyiɣi geɖe wu be woasrɔ̃ nu ahatsi wu ame bubu siwo nye woƒe ƒemetɔwo. Tsitsi ƒe megbetsitsi sia ate ŋu adze egɔme tso vidzĩme ke. Le kpɔɖeŋu me, nuwo abe ʋuʋu kple anyinɔƒe le wo ɖokui si ene ate ŋu ahe ɖe megbe. Viwò ate ŋu adze azɔlizɔzɔ gɔme le ƒe 2 xɔxɔ megbe, gake hafi wòaxɔ ƒe 5. Ate ŋu axɔ ɣeyiɣi aɖe hã hafi woadze nuƒoƒo gɔme.

Togbɔ be nɔnɔme sia ate ŋu ahe nuwɔna me kuxi aɖewo vɛ hã la , abe alesi míegblɔe va yi ene la, ɖevi akpa gãtɔ nyea hadomenuwɔnawo ŋutɔ eye wokpɔa dzidzɔ. Wolɔ̃a hadede kple fefe kple ame bubuwo.

Gake ɖo ŋku edzi be dzesi siawo medzena le ɖevi ɖesiaɖe ŋu le mɔ ɖeka nu o. Ðewohĩ dzesi siawo katã madze ɖevi aɖewo ŋu o.

Nukae nye Cohen Dɔléle ƒe ŋutilã me dzesiwo?

Mo kple ŋutilã ƒe nɔnɔme geɖe li siwo bɔ siwo wokpɔna le ɖevi siwo ŋu Cohen Dɔlélea le ŋu. Esiawo dometɔ aɖewo dzena le wo dzidzi me, eye bubuwo ya dzena ne wole tsitsim.

Mo ƒe dzedzeme:

  • Microcephaly: Ta si le sue wu alesi wòle dzɔdzɔmee.
  • Taɖa ɣiwo, ŋkumeɖobolo ɣiwo, kple ŋkumeɖobolo didiwo.
  • Ŋku siwo le anyigba (si ƒe nɔnɔme le abe ƒutsotsoe ene): Ŋkuawo ƒe nɔnɔme le abe ƒutsotsoe ene.
  • No ƒe nugbɔ si le goglo.
  • Adzɔge kpui aɖe si le ŋɔti kple nuyi si le etame (philtrum) dome.
  • Aɖu siwo le etame siwo do ɖe gota.
  • To gãwo.

Nɔnɔme siawo dometɔ aɖewo dzena nyuie wu ne ɖevia le tsitsim, zi geɖe la, ne ɖevia xɔ ƒe 5 vɔ.

Ŋutilã ƒe nɔnɔme bubuwo:

Tsɔ kpe ɖe eŋu la, zi geɖe la, ŋutilã me dzesi bubuwo ate ŋu adze le ɖevimenɔɣi kple emegbe. Esiawo dometɔ aɖewoe nye:

  • Ami ƒe sisi le akɔta ƒe akpa si mesɔ o kple abɔ kple afɔwo ƒe ƒuƒu: Esia fia be ŋutilã ƒe titina (ƒo xlã ƒodo) lolona eye abɔ kple afɔwo va nɔa tsɛ.
  • Eƒe kɔkɔme le kpuie.
  • Ƒewuiwo ƒe heheɖemegbe.
  • Ŋutsuviwo ƒe vidzidɔ siwo meɖiɖi o.
  • Akɔta ƒe ƒoƒo (scoliosis alo kyphosis).

Nɔnɔme bubu kawoe ate ŋu ado mo ɖa le Cohen Syndrome ŋu?

Ðevi siwo ŋu wokpɔ Cohen Dɔléle le la le afɔku me be woaxɔ dɔléle bubu siwo gblẽa nu le woƒe dɔlélenutsiŋutete ŋu. Ele vevie be nànya nusiawo hã.

  • Neutropenia: Esia nye ʋumenugbagbevi ɣi ƒomevi aɖe (si woyɔna be neutrophils) ƒe ɖiɖi le ŋutilãa me. Neutrophil siawo wɔa avu kple dɔlékuiwo kple dɔlékui siwo gena ɖe míaƒe ŋutilã me. Eyata ne nusiawo le sue la, míate ŋu adze dɔ bɔbɔe. Míate ŋu axɔ asrã, dzamezã, kple dɔlékui bubuwo enuenu.
  • Dɔlélenutsiŋutete ƒe nɔnɔmewo: Esia fia be ŋutilãa ŋutɔ ƒe dɔlélenutsiŋutete dzea lãmenugbagbevi siwo le lãmesẽ me le ŋutilãa me dzi. Bu eŋu be enye mía ŋutɔwo ƒe aʋakɔ si le mía dzi dzem. Kpɔɖeŋu aɖewoe nye suklidɔ , lãkusidɔ, kple celiac dɔléle (si nye protein gluten ƒe nulɔdɔ).

Nukae hea Cohen ƒe Dɔlélea vɛ?

VPS13B domenyiŋusẽfianu (si wogayɔna be COH1 domenyiŋusẽfianu) ƒe tɔtrɔ gbɔe Cohen Dɔlélea tsona . Kpuie ko la, enye nusi gblẽ le domenyiŋusẽfianu aɖe si le míaƒe ŋutilã me ŋu.

Bu eŋu kpɔ be nane le míaƒe ŋutilã me si woyɔna be Golgi dɔwɔnu . Ele abe protein-nubablɛwo ƒe dɔwɔƒe ene. Ne wowɔ protein yeye aɖe la, míaƒe ŋutilã ɖoa nu xoxoawo ɖe Golgi-mɔ̃a, afisi wowɔa tɔtrɔ aɖewo le eye wotsɔa wo ƒoa ƒu kple protein bubu siwo sɔ kplii tsɔ ƒoa wo nu ƒu ɖe hatsotsowo me. Ne wowɔ tɔtrɔ siawo vɔ la, Golgi-mɔ̃a ƒoa proteinawo nu ƒu kple woƒe mɔfiamewo heɖoa wo ɖe teƒe si sɔ.

VPS13B domenyiŋusẽfianu la wɔa glycosylation , si nye mɔnu si dzi sukli ƒe moleculewo tona léna ɖe proteinwo ŋu koŋ. Ekpena ɖe ame ŋu hã be woawɔ ɖoɖo ɖe ahɔhɔ̃mekawo kple ami lãmenugbagbeviwo (adipocytes) ŋu ahaɖo dzesiwo ɖe wo .

Eyata, ne tɔtrɔ aɖe va VPS13B domenyiŋusẽfianu me la, ele abe ɖe dɔwɔƒe ma mate ŋu awɔ dɔ nyuie o ene. Ema fia be mate ŋu awɔ nu nyuiwo o. Emae nye nusi hea Cohen Dɔléle ƒe dzesiwo vɛ.

Ðe Cohen ƒe Dɔlélea tso domenyiŋusẽfianu mea?

Ẽ, Cohen ƒe Dɔlélea nye domenyiŋusẽfianu ƒe dɔléle. Wokakaa nɔnɔmea le autosomal recessive ƒe ɖoɖo nu.. Ne edze abe esia gɔmesese sesẽ vie ene la, ke bu eŋu ale: Ðevi xɔa nɔnɔmea ne enyi domenyiŋusẽfianu si gblẽ si hea dɔlélea vɛ ƒe kɔpi eve ƒe dome (ɖeka tso wo dada gbɔ eye ɖeka tso wo fofo gbɔ). Dzila ŋutɔŋutɔwo ate ŋu anye domenyiŋusẽfianu la tsɔlawo. Ema fia be dɔlélea mele wo ŋu o elabena domenyiŋusẽfianu ƒe kɔpi ɖeka si gblẽ koe le wo si. Kɔpi kemɛa le lãmesẽ me. Gake ne ame eve siwo tsɔa nu va kpe ta la, mɔnukpɔkpɔ li be nɔnɔmea nadze wo vi dzi.

Amekae le afɔku me wu le esia ta?

Cohen Syndrome ate ŋu adze ame sia ame dzi. Gake nɔnɔmea bɔ ɖe amewo ƒe hatsotso aɖewo me wu. Le kpɔɖeŋu me:

  • Amishtɔwo ƒe dukɔa
  • Finlandtɔwo ƒe amewo
  • Ame siwo tso Hela (Mediterranea) me
  • Ame siwo tso Ireland

Togbɔ be esia menye nu tɔxɛ aɖeke na mí le Sri Lanka o hã la, enyo be míanya.

Nukawoe nye kuxi siwo ate ŋu ado tso Cohen Dɔlélea me?

Cohen Dɔléle ate ŋu ahe kuxi siwo gbɔna vɛ:

  • Dɔlékui siwo xɔa ame enuenu, abe titinato me dɔlékuiwo (otitis media) (le dɔlélenutsiŋutete ƒe bɔbɔ ta le neutropenia ta) .
  • Aɖu kple nu me ƒe lãmesẽkuxiwo abe aɖuɖɔtoedɔ kple kansa ƒe abi ene .
  • Ŋku ƒe kuxi siwo le dzidzim ɖe edzi .
  • Susu ƒe nuwɔametɔnyenye le ɖoƒe vovovowo.

Aleke wokpɔa Cohen ƒe Dɔlélea?

Ðɔkta ate ŋu anya Cohen Syndrome le ŋutilãmedɔdada kple dodokpɔ bubuwo wɔwɔ vɔ megbe. Abe dzila ene la, ne èse le ɖokuiwò me be viwòa mele tsitsime ƒe nu vevi siwo sɔ ɖe eƒe ƒexɔxɔ nu gbɔ ɖom o (e.g., meko alɔgbɔnu o, mewɔa nu ɖe ​​gbeɖiɖiwo ŋu o, meʋuʋuna o, meƒoa nu abe ɖevi bubuwo ene o) la, yi viwòa ƒe ɖɔkta gbɔ. Esia ate ŋu anye nɔnɔmea ƒe dzesi gbãtɔ.

Cohen ƒe Dɔlélea didi ate ŋu asesẽ ɣeaɖewoɣi elabena eƒe dzesiwo ate ŋu asɔ kple nɔnɔme bubu geɖe. Dodokpɔwo ate ŋu akpe ɖe wò ɖɔkta ŋu wòagbe nɔnɔme siawo. Domenyiŋusẽfianu ƒe ʋudodokpɔ ate ŋu ade dzesi domenyiŋusẽfianu ƒe tɔtrɔ si gbɔ dzesi siawo tso.

Aleke wodaa Cohen Dɔléleae?

Fifia la, womekpɔ atike aɖeke na Cohen Dɔlélea o. Dɔlélea ƒe dzesiwo gbɔ kpɔkpɔ kple kpekpeɖeŋu nana ɖevia be wòanɔ agbe nyuie alesi wòanya wɔe koŋue nye atikewɔwɔ. Esia ate ŋu alɔ:

  • Hehenana ƒe ɖoɖo siwo wowɔna kaba: Ðoɖo tɔxɛ siwo kpena ɖe ɖevi ƒe tsitsi kple nusɔsrɔ̃ ŋu.
  • Dɔdamɔnu: Atikewɔwɔ si kpena ɖe ŋuwò nèwɔa gbesiagbedɔwo (abe nuɖuɖu, awudodo, kple fefe ene) le ɖokuiwò si.
  • Lãmesẽfefe: Atikewɔwɔ si kpena ɖe ame ŋu be ŋutilã ƒe ʋuʋu kple lãmekawo ƒe ŋusẽ nyona ɖe edzi. Esia le vevie ŋutɔ na hypotonia.
  • Nuƒoƒo ƒe atikewɔwɔ: Atikewɔwɔ si kpena ɖe ame ŋu wòtu nuƒoƒo kple dzeɖoɖo kple ame bubuwo ƒe ŋutete ɖo.
  • Glass dodo alo hehexɔxɔ si me womekpɔa nu nyuie o.

Zi geɖe la, wotsɔa atike aɖe si woyɔna be Granulocyte-Colony Stimulating Factor (G-CSF) dodo ɖe ŋutigbalẽ te daa ahɔhɔ̃mekawo ƒe agbɔsɔsɔ si do ƒome kple Cohen Dɔlélea . Esia ʋãa ƒumeŋuɖui be wòawɔ ʋumenugbagbevi ɣi geɖe, si wɔnɛ be dɔlékuiwo xɔxɔ ƒe afɔkua dzi ɖena kpɔtɔna.

Ne dɔlékuiwo le viwòa ŋu enuenu la, ɖɔktaa aŋlɔ dɔlékuiwutikewo nɛ be woatsɔ adae ne ehiã.

Nukae nye agbenɔƒe si ame si ŋu Cohen Dɔléle le?

Esi wònye be Cohen Syndrome menye dɔléle si bɔ ŋutɔ o ta la, kpeɖodzi si sɔ gbɔ be woagblɔ alesi tututu wòkpɔa ŋusẽ ɖe ame ƒe agbenɔƒe dzii o. Togbɔ be ame geɖe siwo ŋu dɔlélea le nɔa agbe si sɔ hã la, menye amesiamee nɔa agbee o. Esia ate ŋu akpɔ ŋusẽ ɖe viwòa ƒe agbenɔƒe dzi, vevietɔ ne nɔnɔme bubu siwo gblẽa nu le dɔlélenutsiŋutete ŋu (abe dɔlékuiwo xɔxɔ enuenu, siwo nu sẽ ene) le viwòa ŋu.

Nukae nye Cohen Dɔléle ƒe ŋgɔdonya?

Cohen Syndrome ate ŋu akpɔ ŋusẽ ɖe viwòa ƒe agbenɔnɔ ƒe akpa geɖe dzi. Gake ne wowɔ atike na wo nyuie helé be na wo lɔlɔ̃tɔe la, anɔ eme be woate ŋu agblɔ etsɔme ɖi nyuie.

Ðɔktaa akafu atikewɔmɔnu vovovo siwo sɔ ɖe woƒe dzesiwo nu. Esiawo ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ. Zi geɖe la, atikewɔwɔ kple hehenana ƒe ɖoɖowo lɔa atikewɔwɔ ɖe eme. Esiawo kpena ɖe ɖevia ŋu wòɖoa tsitsime ƒe nu vevi siwo sɔ ɖe eƒe ƒexɔxɔ nu.

Nukpɔkpɔ ƒe kuxiwo kple aɖu ƒe kuxiwo ate ŋu akpɔ ŋusẽ ɖe viwòa dzi. Zi geɖe la, amesiawo dzea egɔme ne woɖo sukudede ƒe ƒewo me. Eyata yi edzi nàyi ŋkudɔdala bibi aɖe gbɔ , aɖudɔdala, kple lãmesẽdɔwɔla bubu siwo wokafu be woalé ŋku ɖe woƒe dzesiwo ŋu ne wole tsitsim.

Ðe woate ŋu axe mɔ ɖe Cohen ƒe Dɔlélea nua?

Esi wònye be domenyiŋusẽfianu ƒe dɔléle nye Cohen Syndrome ta la, mɔ aɖeke meli si dzi woato axe mɔ ɖe enu o . Ne èle ɖoɖo wɔm be yeaɖo ƒome anyi, eye domenyiŋusẽfianu ƒe nɔnɔme sia le wò ƒomea me, alo ne èdi be yeanya nu tso afɔku si le mewò be yeadzi vi si ŋu domenyiŋusẽfianu ƒe dɔléle abe Cohen Syndrome ene le ŋu la, ele vevie ŋutɔ be nàƒo nu kple wò fufɔfɔdzikpɔla alo lãmesẽdɔwɔla tso domenyiŋusẽfianu dodokpɔ/aɖaŋuɖoɖo ŋu .

Ɣekaɣie wòle be makpɔ ɖɔkta?

Esi nènye viwò dzikpɔla ta la, wòe nyae nyuie wu. Ne ède dzesi nane si mebɔ o alo si mebɔ o le eƒe tsitsi alo tsitsi me la, te ɖe eƒe ɖɔkta ŋu. Mègavɔ̃ be yeaƒo nu tso eŋu o, ne nu sue aɖe koe wònye gɔ̃ hã.

Lé ŋku ɖe viwòa ƒe tsitsi ƒe nu veviwo ŋu nyuie . Ebɔ be ɖevi siwo ŋu wokpɔ Cohen ƒe Dɔlélea le la xɔa ɣeyiɣi didi hafi ɖoa nu veviwo abe ʋuʋu kple woƒe nya gbãtɔwo gbɔgblɔ ene gbɔ. Wò ɖɔkta ate ŋu afia mɔ wò le alesi nàkpe ɖe viwòa ŋu le ɣeyiɣi sia me ŋu.

Kpomenya! Ne gbɔgbɔ le sesẽm na viwòa, alo eƒe ŋutigbalẽ kple ɖawo le ɣie alo le blɔ la, ƒo ka na dɔwɔƒe siwo kpɔa nudzɔdzɔ kpatawo gbɔ enumake.

Nya kawoe wòle be mabia nye ɖɔkta?

Ne èle nu ƒom tso viwòa ŋu na ɖɔkta la, ate ŋu aɖe vi be nàbia nya siawo tɔgbe:

  • Nukae wòle be mawɔ ne vinyea ƒe tsitsime ƒe nu veviwo to vovo?
  • Dzesi kawoe wòle be malé ŋku ɖo?
  • Atikewɔwɔ kawoe nèkafu?
  • Ðe atikewɔwɔa ƒe nugbegblẽ aɖewo lia?
  • Aleke mate ŋu akpe ɖe vinyea ŋu wòakpɔ dzidzedze le suku?
  • Ðe dzilawo ƒe ƒuƒoƒo alo habɔbɔ bubu aɖewo li siwo gbɔ míate ŋu aɖo be míado alɔea?

Ðe Cohen Dɔlélea nye Autism?

Ao, Autism Spectrum Disorder (ASD) nye ahɔhɔ̃mekawo ƒe tsitsi ƒe dɔléle . Cohen Syndrome nye domenyiŋusẽfianu ƒe dɔléle. Wo ame evea mesɔ o. Ke hã, ɖevi geɖe siwo ŋu wokpɔ Cohen Dɔléle le ate ŋu akpɔ dzesi siwo sɔ kple autism (ASD) (e.g., hadomekuxiwo, nuwɔna siwo gbugbɔna wɔna), alo woate ŋu akpɔ ASD kpe ɖe Cohen Dɔlélea ŋu. Ðɔkta ate ŋu aɖe nya sia me nyuie.

Mlɔeba la, nusi dzi nàɖo ŋkui (Take-Home Message) .

Enye nusi sɔ be nàse le ɖokuiwò me be nu te ɖe ye dzi ahalé blanui ne viwò mele nu vevi aɖewo wɔm le eƒe ƒexɔxɔ nu o. Ate ŋu ate ɖe ame dzi wu hã ne ɖɔktawo le dodokpɔwo wɔm be yewoanya nusi le edzi yim. Gake togbɔ be Cohen Syndrome nye dɔléle si mebɔ o hã la, ɖɔktawo le nu geɖe srɔ̃m tso dɔlélea kple alesi woakpɔ egbɔe ŋu gbesiagbe.

Nudede eme kaba ƒe ɖoɖowo ate ŋu akpe ɖe viwòa ŋu wòaɖo eƒe tsitsi ƒe taɖodzinuwo gbɔ, ne exɔ ɣeyiɣi didi vie wu ame bubu siwo xɔ ƒeme gɔ̃ hã. Esi wònye be Cohen ƒe Dɔlélea ate ŋu akpɔ ŋusẽ ɖe ɖevi ƒe susuŋutetewo hã dzi ta la, woahiã wò lɔlɔ̃, kpekpeɖeŋu, kple kpekpeɖeŋu le woƒe agbemeŋkekewo katã me.

Mègase le ɖokuiwò me gbeɖe be yetsi akogo o.Ðɔktawo, atikewɔlawo, kple kpekpeɖeŋunaha bubuwo le afima be yewoakpe ɖe mia kple viwòa ŋu. Bia wò nyawo, gblɔ wò seselelãmewo. Míele ŋusẽ dim na wò be nàna nu nyuitɔ kekeake viwòa!


` Cohen Dɔléle, Domenyiŋusẽfianu ƒe Dɔlélewo, Tsitsi ƒe Heheɖemegbe, Ðeviwo ƒe Lãmesẽ, Neutropenia, Microcephaly, Hypotonia

⚠️ Important: The medical articles and information on Nirogi Lanka are for general awareness only, and are by no means a substitute for professional medical advice, diagnosis, or treatment. For any medical problem you have, consult a qualified physician immediately.

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Ðe dzesi siawo le viwòa ŋua? Mina míasrɔ̃ nu tso Cohen ƒe Dɔlélea ŋu.
Alesi Ŋutilãa Wɔa Dɔesiamlɔm 5 lia 2026

Ðe dzesi siawo le viwòa ŋua? Mina míasrɔ̃ nu tso Cohen ƒe Dɔlélea ŋu.

Èbu nusita ɖevi aɖewo ƒe nuwɔna kple tsitsi to vovo na bubuwo tɔ ŋu kpɔa? Ɣeaɖewoɣi la, ŋutinya gã aɖe ate ŋu anɔ nu suewo gɔ̃ hã megbe. Egbea, míele nu ƒom tso domenyiŋusẽfianu ƒe nɔnɔme aɖe si gblẽa nu geɖe le ɖeviwo ŋu, abe woƒe dzedzeme, tsitsi, kple lãmekawo ƒe ŋusẽ ene ŋu. Woyɔa nɔnɔme sia be Cohen Syndrome.

Nukae nye Cohen ƒe Dɔléle?

Kpuie ko la, Cohen Dɔléle nye dɔléle si domenyiŋusẽfianu ƒe tɔtrɔ hena vɛ. Ate ŋu agblẽ nu le ŋutilã ƒe akpa geɖe ŋu, siwo dometɔ aɖewoe nye nukpɔkpɔ, ɖevi ƒe tsitsi, lãmekawo ƒe dɔwɔwɔ, kple susu ƒe ŋutete. Ate ŋu ahe ŋutilã me dzesiwo abe ta sue, taɖa ɣi, kple kɔkɔme kpui ene hã vɛ.

Ðevi siwo wodzi kple dɔléle sia ƒe tsitsi tsia megbe . Esia fia be nuwo abe ʋuʋu, azɔlizɔzɔ, kple nuƒoƒo ene ate ŋu atsi megbe wu alesi wokpɔ mɔe. Le kpɔɖeŋu me, togbɔ be xɔ̃wòa ƒe vi ate ŋu anɔ ʋuʋum le ɣleti ade megbe hã la, vidzĩ si ŋu dɔléle sia le ate ŋu axɔ ɣeyiɣi didi wu. Ke hã, togbɔ be wohea ɖevi siawo ɖe megbe alea hã la, zi geɖe la, woƒe nu nyoa ame ŋu ŋutɔ, wokpɔa dzidzɔ, eye wonyea hadomenuwɔnawo. Woɖea lɔlɔ̃ fiana ame ŋutɔ ne woko alɔgbɔnu heƒoa nu.

Domenyiŋusẽfianu ƒe tɔtrɔ aɖe gbɔe esia tsona, eye fifia la, womate ŋu adae o. Togbɔ be amesiwo ŋu Cohen Dɔlélea le ƒe akpa gãtɔ nɔa agbe si sɔ hã la, woahiã kpekpeɖeŋu aɖe le woƒe agbemeŋkekewo katã me.

Aleke gbegbee nɔnɔme sia bɔe be Cohen Syndrome?

Le nyateƒe me la, Cohen ƒe Dɔlélea menye dɔléle si bɔ ŋutɔ o. Numekuku aɖewo ɖee fia be ame siwo mede 1,000 o ye ŋu dɔléle sia le le xexeame katã. Gake esi wònye be zi geɖe la, womekpɔa dɔlélea dzea sii nyuie o ta la, xexlẽme ŋutɔŋutɔ ate ŋu asɔ gbɔ wu ema kura. Eya ta ele vevie be míanya nɔnɔme siawo.

Nukawoe nye Cohen Dɔléle ƒe dzesiwo?

Dzesi kple dzesi vovovowo li siwo ɖea Cohen Dɔlélea fiana. Ele vevie be míaɖo ŋku edzi be menye amesiamee akpɔ dzesiawo katã o. Mina míalé ŋku ɖe dzesi vevi siwo woate ŋu akpɔ ŋu:

  • Susu ƒe tsitsi ƒe kuxiwo: Esia fia be exɔa ɣeyiɣi didi vie hafi woate ŋu asrɔ̃ nuwo ahase wo gɔme. Ðewohĩ àhiã kpekpeɖeŋu bubu le sukudɔwo wɔwɔ me.
  • Lãmetsiwo ƒe gbɔdzɔgbɔdzɔ (hypotonia): Gbɔdzɔgbɔdzɔ alo lãmetutudɔ ƒe seselelãme le ŋutilã me. Woate ŋu ase esia ne wole vidzĩ kɔm gɔ̃ hã.
  • Hypermobility: Ƒunukpeƒewo ƒe asitɔtrɔ le nɔnɔmewo ŋu fũ akpa. Ðevi aɖewo ate ŋu abɔbɔ woƒe abɔwo le mɔ wɔnukuwo nu.
  • Myopia (nukpɔkpɔ kpuie) si dzina ɖe edzi ne ame tsi: Nuwo kpɔkpɔ le kpuie gake womekpɔa nuwo le didiƒe nyuie o. Esia dzina ɖe edzi ne ame tsi, eyata ele vevie be woado ŋku kpɔ edziedzi.
  • Retinal dystrophy alo chorioretinitis: Nu gblẽ le ŋku ƒe akpa si kpena ɖe ame ŋu be wòakpɔ nu ŋu. Esia ate ŋu ana ame ƒe ŋkuwo nabu vivivi.

Dzesi siwo vidzĩ siwo wodzi yeyee ate ŋu akpɔ

Àte ŋu akpɔ nu siawo tɔgbe le vidzĩ siwo wodzi yeyee ŋu:

  • No nana ƒe sesẽ: No nana vidzĩa ƒe sesẽ.
  • Avifafa si gbɔdzɔ alo esi nu sẽ: Vidzĩa ƒe avifafa ate ŋu ato vovo, agbɔdzɔ wu alesi wònɔna ɖaa.
  • Yagbɔgbɔ sesẽna: Gbɔgbɔ sesẽna na vidzĩa.
  • Lolo dzi ɖeɖe kpɔtɔ sesẽ: Vidzĩa ƒe lolo mele dzidzim ɖe edzi nyuie o.

Vevietɔ ŋutɔ: Ne gbɔgbɔ le sesẽm na viwòa alo edze abe eƒe blɔ le blɔ ene la, ƒo ka na 119 alo wò nutoa me xexlẽdzesi kpata enumake eye nàkplɔe ayi kɔdzi.

Tsitsi ƒe megbetsitsi kple nuwɔna

Ðewohĩ ɖeviwo ahiã ɣeyiɣi geɖe wu be woasrɔ̃ nu ahatsi wu ame bubu siwo nye woƒe ƒemetɔwo. Tsitsi ƒe megbetsitsi sia ate ŋu adze egɔme tso vidzĩme ke. Le kpɔɖeŋu me, nuwo abe ʋuʋu kple anyinɔƒe le wo ɖokui si ene ate ŋu ahe ɖe megbe. Viwò ate ŋu adze azɔlizɔzɔ gɔme le ƒe 2 xɔxɔ megbe, gake hafi wòaxɔ ƒe 5. Ate ŋu axɔ ɣeyiɣi aɖe hã hafi woadze nuƒoƒo gɔme.

Togbɔ be nɔnɔme sia ate ŋu ahe nuwɔna me kuxi aɖewo vɛ hã la , abe alesi míegblɔe va yi ene la, ɖevi akpa gãtɔ nyea hadomenuwɔnawo ŋutɔ eye wokpɔa dzidzɔ. Wolɔ̃a hadede kple fefe kple ame bubuwo.

Gake ɖo ŋku edzi be dzesi siawo medzena le ɖevi ɖesiaɖe ŋu le mɔ ɖeka nu o. Ðewohĩ dzesi siawo katã madze ɖevi aɖewo ŋu o.

Nukae nye Cohen Dɔléle ƒe ŋutilã me dzesiwo?

Mo kple ŋutilã ƒe nɔnɔme geɖe li siwo bɔ siwo wokpɔna le ɖevi siwo ŋu Cohen Dɔlélea le ŋu. Esiawo dometɔ aɖewo dzena le wo dzidzi me, eye bubuwo ya dzena ne wole tsitsim.

Mo ƒe dzedzeme:

  • Microcephaly: Ta si le sue wu alesi wòle dzɔdzɔmee.
  • Taɖa ɣiwo, ŋkumeɖobolo ɣiwo, kple ŋkumeɖobolo didiwo.
  • Ŋku siwo le anyigba (si ƒe nɔnɔme le abe ƒutsotsoe ene): Ŋkuawo ƒe nɔnɔme le abe ƒutsotsoe ene.
  • No ƒe nugbɔ si le goglo.
  • Adzɔge kpui aɖe si le ŋɔti kple nuyi si le etame (philtrum) dome.
  • Aɖu siwo le etame siwo do ɖe gota.
  • To gãwo.

Nɔnɔme siawo dometɔ aɖewo dzena nyuie wu ne ɖevia le tsitsim, zi geɖe la, ne ɖevia xɔ ƒe 5 vɔ.

Ŋutilã ƒe nɔnɔme bubuwo:

Tsɔ kpe ɖe eŋu la, zi geɖe la, ŋutilã me dzesi bubuwo ate ŋu adze le ɖevimenɔɣi kple emegbe. Esiawo dometɔ aɖewoe nye:

  • Ami ƒe sisi le akɔta ƒe akpa si mesɔ o kple abɔ kple afɔwo ƒe ƒuƒu: Esia fia be ŋutilã ƒe titina (ƒo xlã ƒodo) lolona eye abɔ kple afɔwo va nɔa tsɛ.
  • Eƒe kɔkɔme le kpuie.
  • Ƒewuiwo ƒe heheɖemegbe.
  • Ŋutsuviwo ƒe vidzidɔ siwo meɖiɖi o.
  • Akɔta ƒe ƒoƒo (scoliosis alo kyphosis).

Nɔnɔme bubu kawoe ate ŋu ado mo ɖa le Cohen Syndrome ŋu?

Ðevi siwo ŋu wokpɔ Cohen Dɔléle le la le afɔku me be woaxɔ dɔléle bubu siwo gblẽa nu le woƒe dɔlélenutsiŋutete ŋu. Ele vevie be nànya nusiawo hã.

  • Neutropenia: Esia nye ʋumenugbagbevi ɣi ƒomevi aɖe (si woyɔna be neutrophils) ƒe ɖiɖi le ŋutilãa me. Neutrophil siawo wɔa avu kple dɔlékuiwo kple dɔlékui siwo gena ɖe míaƒe ŋutilã me. Eyata ne nusiawo le sue la, míate ŋu adze dɔ bɔbɔe. Míate ŋu axɔ asrã, dzamezã, kple dɔlékui bubuwo enuenu.
  • Dɔlélenutsiŋutete ƒe nɔnɔmewo: Esia fia be ŋutilãa ŋutɔ ƒe dɔlélenutsiŋutete dzea lãmenugbagbevi siwo le lãmesẽ me le ŋutilãa me dzi. Bu eŋu be enye mía ŋutɔwo ƒe aʋakɔ si le mía dzi dzem. Kpɔɖeŋu aɖewoe nye suklidɔ , lãkusidɔ, kple celiac dɔléle (si nye protein gluten ƒe nulɔdɔ).

Nukae hea Cohen ƒe Dɔlélea vɛ?

VPS13B domenyiŋusẽfianu (si wogayɔna be COH1 domenyiŋusẽfianu) ƒe tɔtrɔ gbɔe Cohen Dɔlélea tsona . Kpuie ko la, enye nusi gblẽ le domenyiŋusẽfianu aɖe si le míaƒe ŋutilã me ŋu.

Bu eŋu kpɔ be nane le míaƒe ŋutilã me si woyɔna be Golgi dɔwɔnu . Ele abe protein-nubablɛwo ƒe dɔwɔƒe ene. Ne wowɔ protein yeye aɖe la, míaƒe ŋutilã ɖoa nu xoxoawo ɖe Golgi-mɔ̃a, afisi wowɔa tɔtrɔ aɖewo le eye wotsɔa wo ƒoa ƒu kple protein bubu siwo sɔ kplii tsɔ ƒoa wo nu ƒu ɖe hatsotsowo me. Ne wowɔ tɔtrɔ siawo vɔ la, Golgi-mɔ̃a ƒoa proteinawo nu ƒu kple woƒe mɔfiamewo heɖoa wo ɖe teƒe si sɔ.

VPS13B domenyiŋusẽfianu la wɔa glycosylation , si nye mɔnu si dzi sukli ƒe moleculewo tona léna ɖe proteinwo ŋu koŋ. Ekpena ɖe ame ŋu hã be woawɔ ɖoɖo ɖe ahɔhɔ̃mekawo kple ami lãmenugbagbeviwo (adipocytes) ŋu ahaɖo dzesiwo ɖe wo .

Eyata, ne tɔtrɔ aɖe va VPS13B domenyiŋusẽfianu me la, ele abe ɖe dɔwɔƒe ma mate ŋu awɔ dɔ nyuie o ene. Ema fia be mate ŋu awɔ nu nyuiwo o. Emae nye nusi hea Cohen Dɔléle ƒe dzesiwo vɛ.

Ðe Cohen ƒe Dɔlélea tso domenyiŋusẽfianu mea?

Ẽ, Cohen ƒe Dɔlélea nye domenyiŋusẽfianu ƒe dɔléle. Wokakaa nɔnɔmea le autosomal recessive ƒe ɖoɖo nu.. Ne edze abe esia gɔmesese sesẽ vie ene la, ke bu eŋu ale: Ðevi xɔa nɔnɔmea ne enyi domenyiŋusẽfianu si gblẽ si hea dɔlélea vɛ ƒe kɔpi eve ƒe dome (ɖeka tso wo dada gbɔ eye ɖeka tso wo fofo gbɔ). Dzila ŋutɔŋutɔwo ate ŋu anye domenyiŋusẽfianu la tsɔlawo. Ema fia be dɔlélea mele wo ŋu o elabena domenyiŋusẽfianu ƒe kɔpi ɖeka si gblẽ koe le wo si. Kɔpi kemɛa le lãmesẽ me. Gake ne ame eve siwo tsɔa nu va kpe ta la, mɔnukpɔkpɔ li be nɔnɔmea nadze wo vi dzi.

Amekae le afɔku me wu le esia ta?

Cohen Syndrome ate ŋu adze ame sia ame dzi. Gake nɔnɔmea bɔ ɖe amewo ƒe hatsotso aɖewo me wu. Le kpɔɖeŋu me:

  • Amishtɔwo ƒe dukɔa
  • Finlandtɔwo ƒe amewo
  • Ame siwo tso Hela (Mediterranea) me
  • Ame siwo tso Ireland

Togbɔ be esia menye nu tɔxɛ aɖeke na mí le Sri Lanka o hã la, enyo be míanya.

Nukawoe nye kuxi siwo ate ŋu ado tso Cohen Dɔlélea me?

Cohen Dɔléle ate ŋu ahe kuxi siwo gbɔna vɛ:

  • Dɔlékui siwo xɔa ame enuenu, abe titinato me dɔlékuiwo (otitis media) (le dɔlélenutsiŋutete ƒe bɔbɔ ta le neutropenia ta) .
  • Aɖu kple nu me ƒe lãmesẽkuxiwo abe aɖuɖɔtoedɔ kple kansa ƒe abi ene .
  • Ŋku ƒe kuxi siwo le dzidzim ɖe edzi .
  • Susu ƒe nuwɔametɔnyenye le ɖoƒe vovovowo.

Aleke wokpɔa Cohen ƒe Dɔlélea?

Ðɔkta ate ŋu anya Cohen Syndrome le ŋutilãmedɔdada kple dodokpɔ bubuwo wɔwɔ vɔ megbe. Abe dzila ene la, ne èse le ɖokuiwò me be viwòa mele tsitsime ƒe nu vevi siwo sɔ ɖe eƒe ƒexɔxɔ nu gbɔ ɖom o (e.g., meko alɔgbɔnu o, mewɔa nu ɖe ​​gbeɖiɖiwo ŋu o, meʋuʋuna o, meƒoa nu abe ɖevi bubuwo ene o) la, yi viwòa ƒe ɖɔkta gbɔ. Esia ate ŋu anye nɔnɔmea ƒe dzesi gbãtɔ.

Cohen ƒe Dɔlélea didi ate ŋu asesẽ ɣeaɖewoɣi elabena eƒe dzesiwo ate ŋu asɔ kple nɔnɔme bubu geɖe. Dodokpɔwo ate ŋu akpe ɖe wò ɖɔkta ŋu wòagbe nɔnɔme siawo. Domenyiŋusẽfianu ƒe ʋudodokpɔ ate ŋu ade dzesi domenyiŋusẽfianu ƒe tɔtrɔ si gbɔ dzesi siawo tso.

Aleke wodaa Cohen Dɔléleae?

Fifia la, womekpɔ atike aɖeke na Cohen Dɔlélea o. Dɔlélea ƒe dzesiwo gbɔ kpɔkpɔ kple kpekpeɖeŋu nana ɖevia be wòanɔ agbe nyuie alesi wòanya wɔe koŋue nye atikewɔwɔ. Esia ate ŋu alɔ:

  • Hehenana ƒe ɖoɖo siwo wowɔna kaba: Ðoɖo tɔxɛ siwo kpena ɖe ɖevi ƒe tsitsi kple nusɔsrɔ̃ ŋu.
  • Dɔdamɔnu: Atikewɔwɔ si kpena ɖe ŋuwò nèwɔa gbesiagbedɔwo (abe nuɖuɖu, awudodo, kple fefe ene) le ɖokuiwò si.
  • Lãmesẽfefe: Atikewɔwɔ si kpena ɖe ame ŋu be ŋutilã ƒe ʋuʋu kple lãmekawo ƒe ŋusẽ nyona ɖe edzi. Esia le vevie ŋutɔ na hypotonia.
  • Nuƒoƒo ƒe atikewɔwɔ: Atikewɔwɔ si kpena ɖe ame ŋu wòtu nuƒoƒo kple dzeɖoɖo kple ame bubuwo ƒe ŋutete ɖo.
  • Glass dodo alo hehexɔxɔ si me womekpɔa nu nyuie o.

Zi geɖe la, wotsɔa atike aɖe si woyɔna be Granulocyte-Colony Stimulating Factor (G-CSF) dodo ɖe ŋutigbalẽ te daa ahɔhɔ̃mekawo ƒe agbɔsɔsɔ si do ƒome kple Cohen Dɔlélea . Esia ʋãa ƒumeŋuɖui be wòawɔ ʋumenugbagbevi ɣi geɖe, si wɔnɛ be dɔlékuiwo xɔxɔ ƒe afɔkua dzi ɖena kpɔtɔna.

Ne dɔlékuiwo le viwòa ŋu enuenu la, ɖɔktaa aŋlɔ dɔlékuiwutikewo nɛ be woatsɔ adae ne ehiã.

Nukae nye agbenɔƒe si ame si ŋu Cohen Dɔléle le?

Esi wònye be Cohen Syndrome menye dɔléle si bɔ ŋutɔ o ta la, kpeɖodzi si sɔ gbɔ be woagblɔ alesi tututu wòkpɔa ŋusẽ ɖe ame ƒe agbenɔƒe dzii o. Togbɔ be ame geɖe siwo ŋu dɔlélea le nɔa agbe si sɔ hã la, menye amesiamee nɔa agbee o. Esia ate ŋu akpɔ ŋusẽ ɖe viwòa ƒe agbenɔƒe dzi, vevietɔ ne nɔnɔme bubu siwo gblẽa nu le dɔlélenutsiŋutete ŋu (abe dɔlékuiwo xɔxɔ enuenu, siwo nu sẽ ene) le viwòa ŋu.

Nukae nye Cohen Dɔléle ƒe ŋgɔdonya?

Cohen Syndrome ate ŋu akpɔ ŋusẽ ɖe viwòa ƒe agbenɔnɔ ƒe akpa geɖe dzi. Gake ne wowɔ atike na wo nyuie helé be na wo lɔlɔ̃tɔe la, anɔ eme be woate ŋu agblɔ etsɔme ɖi nyuie.

Ðɔktaa akafu atikewɔmɔnu vovovo siwo sɔ ɖe woƒe dzesiwo nu. Esiawo ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ. Zi geɖe la, atikewɔwɔ kple hehenana ƒe ɖoɖowo lɔa atikewɔwɔ ɖe eme. Esiawo kpena ɖe ɖevia ŋu wòɖoa tsitsime ƒe nu vevi siwo sɔ ɖe eƒe ƒexɔxɔ nu.

Nukpɔkpɔ ƒe kuxiwo kple aɖu ƒe kuxiwo ate ŋu akpɔ ŋusẽ ɖe viwòa dzi. Zi geɖe la, amesiawo dzea egɔme ne woɖo sukudede ƒe ƒewo me. Eyata yi edzi nàyi ŋkudɔdala bibi aɖe gbɔ , aɖudɔdala, kple lãmesẽdɔwɔla bubu siwo wokafu be woalé ŋku ɖe woƒe dzesiwo ŋu ne wole tsitsim.

Ðe woate ŋu axe mɔ ɖe Cohen ƒe Dɔlélea nua?

Esi wònye be domenyiŋusẽfianu ƒe dɔléle nye Cohen Syndrome ta la, mɔ aɖeke meli si dzi woato axe mɔ ɖe enu o . Ne èle ɖoɖo wɔm be yeaɖo ƒome anyi, eye domenyiŋusẽfianu ƒe nɔnɔme sia le wò ƒomea me, alo ne èdi be yeanya nu tso afɔku si le mewò be yeadzi vi si ŋu domenyiŋusẽfianu ƒe dɔléle abe Cohen Syndrome ene le ŋu la, ele vevie ŋutɔ be nàƒo nu kple wò fufɔfɔdzikpɔla alo lãmesẽdɔwɔla tso domenyiŋusẽfianu dodokpɔ/aɖaŋuɖoɖo ŋu .

Ɣekaɣie wòle be makpɔ ɖɔkta?

Esi nènye viwò dzikpɔla ta la, wòe nyae nyuie wu. Ne ède dzesi nane si mebɔ o alo si mebɔ o le eƒe tsitsi alo tsitsi me la, te ɖe eƒe ɖɔkta ŋu. Mègavɔ̃ be yeaƒo nu tso eŋu o, ne nu sue aɖe koe wònye gɔ̃ hã.

Lé ŋku ɖe viwòa ƒe tsitsi ƒe nu veviwo ŋu nyuie . Ebɔ be ɖevi siwo ŋu wokpɔ Cohen ƒe Dɔlélea le la xɔa ɣeyiɣi didi hafi ɖoa nu veviwo abe ʋuʋu kple woƒe nya gbãtɔwo gbɔgblɔ ene gbɔ. Wò ɖɔkta ate ŋu afia mɔ wò le alesi nàkpe ɖe viwòa ŋu le ɣeyiɣi sia me ŋu.

Kpomenya! Ne gbɔgbɔ le sesẽm na viwòa, alo eƒe ŋutigbalẽ kple ɖawo le ɣie alo le blɔ la, ƒo ka na dɔwɔƒe siwo kpɔa nudzɔdzɔ kpatawo gbɔ enumake.

Nya kawoe wòle be mabia nye ɖɔkta?

Ne èle nu ƒom tso viwòa ŋu na ɖɔkta la, ate ŋu aɖe vi be nàbia nya siawo tɔgbe:

  • Nukae wòle be mawɔ ne vinyea ƒe tsitsime ƒe nu veviwo to vovo?
  • Dzesi kawoe wòle be malé ŋku ɖo?
  • Atikewɔwɔ kawoe nèkafu?
  • Ðe atikewɔwɔa ƒe nugbegblẽ aɖewo lia?
  • Aleke mate ŋu akpe ɖe vinyea ŋu wòakpɔ dzidzedze le suku?
  • Ðe dzilawo ƒe ƒuƒoƒo alo habɔbɔ bubu aɖewo li siwo gbɔ míate ŋu aɖo be míado alɔea?

Ðe Cohen Dɔlélea nye Autism?

Ao, Autism Spectrum Disorder (ASD) nye ahɔhɔ̃mekawo ƒe tsitsi ƒe dɔléle . Cohen Syndrome nye domenyiŋusẽfianu ƒe dɔléle. Wo ame evea mesɔ o. Ke hã, ɖevi geɖe siwo ŋu wokpɔ Cohen Dɔléle le ate ŋu akpɔ dzesi siwo sɔ kple autism (ASD) (e.g., hadomekuxiwo, nuwɔna siwo gbugbɔna wɔna), alo woate ŋu akpɔ ASD kpe ɖe Cohen Dɔlélea ŋu. Ðɔkta ate ŋu aɖe nya sia me nyuie.

Mlɔeba la, nusi dzi nàɖo ŋkui (Take-Home Message) .

Enye nusi sɔ be nàse le ɖokuiwò me be nu te ɖe ye dzi ahalé blanui ne viwò mele nu vevi aɖewo wɔm le eƒe ƒexɔxɔ nu o. Ate ŋu ate ɖe ame dzi wu hã ne ɖɔktawo le dodokpɔwo wɔm be yewoanya nusi le edzi yim. Gake togbɔ be Cohen Syndrome nye dɔléle si mebɔ o hã la, ɖɔktawo le nu geɖe srɔ̃m tso dɔlélea kple alesi woakpɔ egbɔe ŋu gbesiagbe.

Nudede eme kaba ƒe ɖoɖowo ate ŋu akpe ɖe viwòa ŋu wòaɖo eƒe tsitsi ƒe taɖodzinuwo gbɔ, ne exɔ ɣeyiɣi didi vie wu ame bubu siwo xɔ ƒeme gɔ̃ hã. Esi wònye be Cohen ƒe Dɔlélea ate ŋu akpɔ ŋusẽ ɖe ɖevi ƒe susuŋutetewo hã dzi ta la, woahiã wò lɔlɔ̃, kpekpeɖeŋu, kple kpekpeɖeŋu le woƒe agbemeŋkekewo katã me.

Mègase le ɖokuiwò me gbeɖe be yetsi akogo o.Ðɔktawo, atikewɔlawo, kple kpekpeɖeŋunaha bubuwo le afima be yewoakpe ɖe mia kple viwòa ŋu. Bia wò nyawo, gblɔ wò seselelãmewo. Míele ŋusẽ dim na wò be nàna nu nyuitɔ kekeake viwòa!


` Cohen Dɔléle, Domenyiŋusẽfianu ƒe Dɔlélewo, Tsitsi ƒe Heheɖemegbe, Ðeviwo ƒe Lãmesẽ, Neutropenia, Microcephaly, Hypotonia

⚠️ Important: The medical articles and information on Nirogi Lanka are for general awareness only, and are by no means a substitute for professional medical advice, diagnosis, or treatment. For any medical problem you have, consult a qualified physician immediately.

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