Ðe viwò suea te ŋu dea ha kple amewo ŋutɔa? Ðe wònye ame si lɔ̃a ame ŋutɔ si koa alɔgbɔnu heƒoa nu na amesiame si wòkpɔa? Le ɣeyiɣi ma ke me la, ɖe tsitsi ƒe megbetsitsi vie alo nusɔsrɔ̃ ƒe kuxiwo nɔa anyi ɣeaɖewoɣia? Ɣeaɖewoɣi la, domenyiŋusẽfianu ƒe dɔléle aɖe si mebɔ o si woyɔna be Williams Syndrome ate ŋu anɔ nɔnɔme mawo megbe. Mègavɔ̃ ne èse ŋkɔ sia o. Esia nye nusi ŋu wòle be míaƒo nu tsoe ahase egɔme. Egbea, míaƒo nu tso nusianu ŋu le mɔ bɔbɔe aɖe si gɔme nàte ŋu ase nu.
Kpuie ko la, nukae nye Williams ƒe Dɔlélea?
Williams ƒe dɔléle, si woyɔna ɣeaɖewoɣi be Williams-Beuren ƒe dɔléle, nye domenyiŋusẽfianu ƒe dɔléle si mebɔ o si nɔa anyi le vidzidzi me. Ekpɔa ŋusẽ ɖe ahɔhɔ̃mekawo ƒe tsitsi dzi. Ðevi siwo ŋu dɔléle sia le ate ŋu ƒe dzedzeme to vovo, woƒe tsitsi ƒe megbetsitsi, nusɔsrɔ̃ ƒe kuxiwo, kple dzitodzitowo ƒe dɔmawɔmawɔ nyuie.
Tsɔe be mɔfiamegbalẽ gã aɖee wotsɔ wɔ míaƒe ŋutilãe. Domenyiŋusẽfianu le mɔfiamegbalẽ sia me. Domenyiŋusẽfianu siawo le domenyiŋusẽfianuwo me. Dzɔdzɔmenugbagbevi eve 23 ye le mía si, si nye 46 le wo katã me . Ame si ŋu Williams ƒe dɔlélea le la ƒe akpa sue aɖe bu le domenyiŋusẽfianu 7. Ele abe axa aɖe si bu le mɔfiamegbalẽ ma me ene. Le axa sia si bu ta la, ŋutilãa ƒe dɔwɔwɔ kple tsitsi aɖewo dzɔna le mɔ vovovowo nu. Emae nye nusi míeyɔna be Williams ƒe dɔléle.
Nu vevitɔe nye be, esia menye nusi ƒe dome wonyi tso dzilawo gbɔ na viwo zi geɖe o. Esia nye tɔtrɔ si dzɔ le vome le domenyiŋusẽfianu ƒe wɔwɔme me. Eya ta mègabu fɔ ɖokuiwò ɖe esia ta o.
Ŋusẽ kawoe nɔnɔme sia ate ŋu akpɔ ɖe ɖevia dzi?
Menye ɖevi ɖesiaɖe si ŋu dɔléle sia le ye nye ɖeka o. Dzesiawo ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ. Gake dzesi aɖewo li siwo bɔ. Mina míagbã esiawo.
Ŋutilã ƒe nɔnɔmewo kple dzedzeme
Ðevi siawo ate ŋu akpɔ dzedzeme si vivina ŋutɔ, si le etɔxɛ.
| Nɔnɔme si le ame ŋu | Nuɖᴐɖᴐ |
|---|---|
| Mo | Ŋgonu yɔ fũ, nu si keke, nuyi siwo dze ƒã, ŋɔti sue si trɔ ɖe dzi, asike sue. |
| Ŋkuwo | Woate ŋu akpɔ ŋutigbalẽ ƒe akpa aɖe (epicanthal folds) le ŋkua ƒe dzogoe ememetɔ. |
| Aɖuwo | Aɖu suewo, dometsotso siwo le aɖuwo dome, aɖu siwo bu, alo aɖu siwo gbɔdzɔ. |
| Kᴐkᴐme | Ame geɖe ƒe kɔkɔme le kpuie wu mamã dedie. Tsitsi ate ŋu anɔ blewu le ɖevimenɔɣi. |
Tsitsi kple nuwɔna
Ðevi siawo xɔa ɣeyiɣi aɖe hafi ɖoa tsitsi ƒe nu vevi aɖewo gbɔ, gake ŋutete tɔxɛwo hã le wo si.
- Nuƒoƒo: Ðewohĩ wotsi megbe vie le nuƒoƒo gɔmedzedze me, gake ne wonya nyae ko la, gbegbɔgblɔ ƒe ŋutete nyui aɖe ŋutɔ va le wo si . Wobi ɖe nuƒoƒo nyuie kple alesi woɖɔa nu me ŋutɔ.
- Ʋuʋu: Le lãmekawo ƒe ɖiɖi (hypotonia) ta la, exɔa ɣeyiɣi didi wu ɖevi bubuwo hafi wosrɔ̃a nuwo abe anyinɔƒe kple azɔlizɔzɔ ene.
- Nusɔsrɔ̃: Ate ŋu asesẽ na wo vie be woasrɔ̃ xexlẽdzesiwo, ŋɔŋlɔdzesiwo, kple teƒe (dzi, anyi, te ɖe, didiƒe) gɔmesese. Gake ŋkuɖoɖonudzi nyui aɖe le wo si .
- Hadomegbenɔnɔ: Esiae nye ɖevi siawo ƒe nɔnɔme si ɖe dzesi wu . Wonye xɔlɔ̃wo, lɔlɔ̃tɔwo, kple dɔmetɔtrɔ ŋutɔ. Esesẽna na wo be woade dzesi amedzrowo, eyata wodzea xɔlɔ̃ ame sia ame kaba. Ɣeaɖewoɣi la, woate ŋu atsi dzimaɖi fũu akpa alo vɔvɔ̃ na nu aɖewo gɔ̃ hã (vɔvɔ̃).
Lãmesẽkuxi bubuwo
Nɔnɔme sia ate ŋu ahe lãmesẽkuxi bubuwo hã vɛ. Ele vevie be nànya nusiawo.
- Dzidɔ: Esiae nye nu vevitɔ kekeake si ŋu wòle be míakpɔ nyuie le . Ʋuka gã siwo do ƒome kple dzia ƒe ʋuʋu (stenosis) bɔ. Esia ate ŋu ahe nɔnɔmewo abe ʋusɔgbɔdɔ kple dzi ƒe tsotso si mesɔ o (arrhythmia) vɛ.
- Calcium ƒe agbɔsɔsɔ: Calcium ƒe agbɔsɔsɔ le ʋu kple aɖuɖɔ me ate ŋu adzi ɖe edzi.
- Lãmetsiŋusẽ ƒe kuxiwo: Afɔku li be ʋumenugbagbeviɣidɔ, sɔhɛmenɔɣi kaba, kple suklidɔ nadze ame dzi le ame tsitsi me.
- To me dɔlékuiwo: To me dɔlékuiwo xɔxɔ enuenu ate ŋu ana ame nase nu.
- Bubuwo: Woate ŋu akpɔ ƒunukpeƒetetedɔ, nuɖuɖu sesẽ le ɖevime, kple ŋku ƒe kuxi (nukpɔkpɔ didi) hã.
Aleke ɖɔkta awɔ anya esia?
Wò ɖɔkta ate ŋu abu nɔnɔme sia ŋu ne esusu be viwòa ƒe tsitsi tsi megbe alo tsi dzi ɖe woƒe dzedzeme ŋu. Mɔ vevitɔ si dzi woato aɖo kpe dɔlélea dzi enye domenyiŋusẽfianu dodokpɔ . Esia le abe ʋudodokpɔ edziedzi ene. Ate ŋu akpɔe ɖa be domenyiŋusẽfianu 7 si bu hã.
Tsɔ kpe ɖe eŋu la, woate ŋu awɔ dodokpɔ bubu geɖe atsɔ aɖo kpe dzesi bubuwo dzi:
- Dzidodokpɔ: Wowɔa ECG alo dzitodzito me dodokpɔ (Echocardiogram) tsɔ léa ŋku ɖe kuxi siwo le dzia kple ʋukawo ŋu hã.
- Ʋu ƒe sisi dzidzedze: Ele vevie be nàlé ŋku ɖe viwò ƒe ʋu ƒe sisi ŋu edziedzi.
- Ʋu kple aɖuɖɔ dodokpɔ: Wowɔa dodokpɔ siawo be woatsɔ akpɔ calcium ƒe agbɔsɔsɔ kple ayiku ƒe dɔwɔwɔ.
Aleke wowɔa nu ɖe eŋu hekpɔa egbɔe?
Womate ŋu ada Williams ƒe dɔlélea keŋkeŋ o elabena domenyiŋusẽfianu ƒe dɔlélee wònye. Gake woate ŋu akpɔ dzesi kple kuxi siwo do ƒome kplii gbɔ nyuie eye ɖevia ate ŋu anɔ agbe si sɔ, si me dzidzɔ le.
Atikewɔwɔ ƒe ɖoɖoa toa vovo tso ɖevi ɖesiaɖe gbɔ eye ebia be eŋutinunyala bibi vovovowo nakpe ɖe eŋu.
1. Dzidɔŋutinunyala: Ele vevie be nàlé ŋku ɖe ɖevia ƒe dzi ŋu edziedzi. Ne kuxi aɖe do mo ɖa la, woaŋlɔ atike si hiã (atike alo amekoko) na ame.
2. Nudede eme Kaba: Atikewɔwɔ vovovowo li siwo akpe ɖe ɖevi ƒe tsitsi kple nusɔsrɔ̃ ŋu. Nuƒoƒo ƒe Dɔdamɔnu, Dɔwɔƒe ƒe Dɔdamɔnu, kple Lãmesẽfefewɔwɔe nye esiwo koŋ.
3. Hehenana Tɔxɛ: Ðewohĩ ahiã be woazã hehenanamɔnu tɔxɛwo be woaɖu nusɔsrɔ̃ ƒe kuxi siwo ate ŋu ado mo ɖa le suku dzi.
4. Eŋutinunyala bubuwo: Ele vevie be nàkpɔ ɖɔkta siwo bi ɖe nu siawo me be woakpɔ calcium ƒe agbɔsɔsɔ dzi, ada lãmetsiŋusẽ ƒe kuxiwo, eye woalé ŋku ɖe wò aɖuwo kple ŋkuwo ƒe lãmesẽ ŋu.
Ɣekaɣie woakpɔ ɖɔkta kple ɣeyiɣi si woayi ETU
Ele vevie ŋutɔ be nàlé ŋku ɖe viwòa ƒe lãmesẽ ŋu. Mègahe ɖe megbe le atikewɔlawo ƒe aɖaŋuɖoɖo didi me le nɔnɔme siwo gbɔna me o.
| Mɔnukpɔkpɔ | Nusi woawɔ |
|---|---|
| Kpɔ wò ɖɔkta ɖa... | |
| Ne tsitsi ƒe nu veviwo tsi megbe (e.g., azɔlizɔzɔ megbe alo nuƒoƒo). | Ƒo nu tso viwòa ƒe tsitsi ŋu na wò ɖɔkta. |
| Ne to me dɔlékuiwo le ŋuwò enuenu alo nèle to me tom. | Anyo be nàyi to, ŋɔti, kple ŋɔti ŋuti nunyala gbɔ. |
| Ne nuɖuɖu sesẽ na wò. | Di atikewɔlawo ƒe aɖaŋuɖoɖo tso nunyiame kple nu mimi ƒe kuxiwo ŋu. |
| Yi kɔdzia ƒe Atikewɔwɔ Kpata ƒe Dɔwɔƒe (ETU) enumake... | |
| Ne èɖe dzidɔ ƒe dzesiwo fia. |
|
Abe dzila ene la, wò lɔlɔ̃, kpekpeɖeŋu, kple dzigbɔɖi nye ŋusẽ gãtɔ kekeake si viwòa ate ŋu ana. Ðevi siawo ƒe amenyenye si lɔ̃a ame hedea ha kple amewo la na wodzea ame sia ame ŋu.
Gbedasi si Wotsɔ Yi Aƒeme
- Williams ƒe dɔlélea nye domenyiŋusẽfianu ƒe dɔléle si mebɔ o si tsoa domenyiŋusẽfianu 7 ƒe akpa aɖe ƒe bu gbɔ.Menye dzilawo ƒe vodada gbɔe esia tso o.
- Ðevi siawo ate ŋu anye hadomenuwɔnawo, lɔlɔ̃tɔwo, eye gbegbɔgblɔ ƒe ŋutete nyuiwo nanɔ wo si.
- Nusi ŋu wotsi dzi ɖo vevie wue nye dzidɔ ƒe kuxiwo, eyata dzidɔdala ƒe ŋkuléle ɖe eŋu edziedzi le vevie ŋutɔ.
- Togbɔ be womate ŋu ada nɔnɔme sia o hã la, woate ŋu akpɔ dzesiawo gbɔ eye ɖevia ate ŋu anɔ agbe nyui ŋutɔ ne wotsɔ atikewɔwɔ kple kpekpeɖeŋu si hiã.
- Ne nu aɖe le fu ɖem na wò le viwòa ŋu la, ƒo nu tso eŋu na wò ɖɔkta gaglãa.
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Womeɖo nya aɖeke ɖe amewo haɖe o. Tsɔ wò nyaŋuɖoɖo kpe ɖe afisia zi gbãtɔ.
Tsɔ wò nyaŋuɖoɖo kpee