Dɛn ne Weaver Syndrome? Hwɛ wo ba no yiye!

So woahyɛ no nsow pɛn sɛ mmofra binom nyin ntɛmntɛm sen mmofra afoforo a wɔne wɔn bɔ tipɛn, anaasɛ nsonsonoe bi wɔ wɔn honam ani hwɛbea mu? Ɛtɔ da bi a sɛ awofo no, sɛ yehu nneɛma a ɛte sɛɛ a, ɛhaw yɛn kakra, ɛnte saa? Wɔ mmere te sɛ eyinom mu no, ebetumi ayɛ nea ɛyɛ nwonwa, nanso tebea bi a ɛntaa nsi koraa, a efi awosu mu ba a wɔfrɛ no Weaver Syndrome wɔ hɔ. Ɛnnɛ, yɛbɛka eyi ho asɛm wɔ ɔkwan tiawa bi a wubetumi ate ase so.

Dɛn ankasa ne Weaver Syndrome?

Sɛ yɛbɛka no tiawa a, Weaver Syndrome, a ɛtɔ mmere bi a wɔfrɛ no Weaver-Smith syndrome no yɛ awosu mu yare . Ade titiriw a ɛwɔ eyi mu ne sɛ nipadua no nnompe nyin ntɛmntɛm sen sɛnea ɛsɛ. Eyi betumi ama abofra no tenten asen wɔn mfe koraa. Afei nso, saa tebea yi betumi ama nsakrae aba abofra no anim ne ne ti kɛse mu. Ɛtɔ mmere bi nso a, ebetumi aka ntini ne nipadua no afã afoforo.

Kae sɛ ɛnyɛ obiara na ɛka no wɔ ɔkwan koro so. Nanso, sɛnkyerɛnne titiriw a nnipa pii hu ne sɛ obi tenten kɔ soro wɔ ɔkwan a ɛnteɛ so. Sɛ wo anaa wo ba wɔ Weaver Syndrome a, ebia wo ntini mu yɛ den, ɛbɛyɛ den sɛ wobɛnantew na woakura nneɛma mu, na wo nsa anaa wo nan akotow anaasɛ asɛe. Mmofra binom nso betumi anya adwene mu dɛmdi . Eyi betumi afi nea emu nyɛ den so kosi nea emu yɛ den so.

Saa tebea yi abu so dɛn?

Eyi yɛ tebea a ɛntaa nsi koraa ankasa. Nnuruyɛfo ahu nnipa kakraa bi pɛ wɔ wiase nyinaa, bɛyɛ 50, enti wubetumi asusuw sɛnea ɛho yɛ na no ho.

Ɔkwan bɛn so na Weaver Syndrome ka akwahosan?

Saa tebea yi betumi ama asiane a ɛwɔ hɔ sɛ abofra benya kokoram bi a wɔfrɛ no Neuroblastoma no ayɛ kɛse kakra. Neuroblastoma yɛ kokoram bi a ɛtaa ka mmofra a wonnii mfe 5. Mmofra binom nso betumi anya komayare a wɔde awo wɔn, na ebia ebehia sɛ wɔyɛ wɔn oprehyɛn. Nanso, sɛ wɔhwɛ wɔn yiye na wɔhwɛ mmofra a , mmofra dodow no ara a wɔwɔ Weaver Syndrome no betumi atra ase yiye akosi wɔn mpanyin afe so.

Dɛn nti na ɛte saa? Dɛn nti na eyi rekɔ so?

Weaver Syndrome yɛ awosu mu yare . Awosu mu yare yɛ tebea a ɛba bere a nsakrae (yɛfrɛ no mutation) ba yɛn awosu mu nkwaadɔm mu no. Weaver Syndrome ne awosu mu abɔde bi a wɔfrɛ no EZH2 wɔ abusuabɔ. Saa nkwaadɔm mu nsakrae a ɛba EZH2 awosu mu abɔde mu yi ma nnompe no yera.Enyin ntɛmntɛm. Afei nso, eyi fi ase yɛ nkɔnsɔnkɔnsɔn a ɛka awosu mu nkwaadɔm afoforo pii wɔ nipadua no mu. Ɛno nti na Weaver Syndrome tumi ka ntini ahorow, nnompe, ne akwaa ahorow.

Nanso, nnuruyɛfo da so ara nte sɛnea saa `(EZH2)` awosu mu nkwaadɔm mu nsakrae yi de Weaver Syndrome ba no ase yiye. Nnipa a wɔwɔ Weaver Syndrome no mu bɛyɛ fã nya saa awosu mu nkwaadɔm mu nsakrae yi fi wɔn awofo no mu biako hɔ. Sɛ ɛna anaa agya no wɔ saa `(EZH2)` gene mutation yi a, ɛbɛyɛ 50% hokwan wɔ hɔ sɛ abofra no nso benya bi bere a wɔawo abofra no.

Nanso, ɛnyɛ bere nyinaa na wonya Weaver Syndrome fi awofo hɔ. Nnipa binom betumi anya saa awosu mu nsakrae (EZH2) yi sɛ wɔn awofo nni bi mpo a.

Dɛn ne Weaver Syndrome ho sɛnkyerɛnne ahorow?

Ɛtɔ mmere bi a wotumi hu Weaver Syndrome ho sɛnkyerɛnne bere a akokoaa no da so ara wɔ awotwaa mu no . Bere a oduruyɛfo no reyɛ ultrasound scan wɔ wo nyinsɛn mu no, ebia obehu sɛ akokoaa no nnompe tenten sen sɛnea ɛte daa. Sɛ ɛba saa a, ebia oduruyɛfo no bɛka sɛ akokoaa no wɔ tebea bi a wɔfrɛ no macrosomia, a ɛkyerɛ sɛ akokoaa no sõ sen sɛnea ɔte.

Sɛ wo ba a wɔawo no foforo no wɔ Weaver Syndrome a, ebia ɛbɛkyɛ wɔ awo mu anaasɛ ne mu duru akɔ soro wɔ awo mu . Nkokoaa a wɔwɔ Weaver Syndrome taa de nne a ɛyɛ dede, ɛnyɛ den, na ɛyɛ nwiinwii de su.

Wɔ tebea horow bi mu no, ebia akokoaa no renkyerɛ yare no ho sɛnkyerɛnne a ɛda adi pefee asram pii.

Ebia wo duruyɛfo bɛka sɛ wo ba no “nnompe mfe akɔ anim.” Eyi kyerɛ sɛ ne nnompe renyin ntɛmntɛm sen sɛnea ɛte daa. Wo ba no nyin betumi ayɛ ntɛmntɛm araa ma ebetumi mpo aboro sɛnea onyin ho nhyehyɛe a ɛfata no so.

Weaver Syndrome betumi ama nsakrae a edidi so yi aba wɔ ti anaa anim hwɛbea mu:

• Moma so a ɛtrɛw
• Wora a ɛboro so wɔ aniwa no mu ntwea so (Epicanthal folds) .
• Ntini mu mpaapaemu a ɛkɔ fam
• Orbital hypertelorism ( aniwa a ɛwɔ akyirikyiri dodo ) .
• Ti kɛse a obi wɔ (Macrocephaly) .
• Aso akɛse anaa nea ɛba fam
• Philtrum a ɛkɔ soro wɔ anofafa a ɛwɔ soro ne hwene ntam no
• Anom ase nketewa `(Micrognathia)`

Weaver Syndrome betumi aka nipadua no afã afoforo ne nhyehyɛe ahorow. Sɛ wo anaa wo ba wɔ saa tebea yi a, wubetumi nso anya:

• Koma mu tebea horow a wonya fi awo mu
• Clubfoot anaa metatarsus adductus a ɛwɔ nipadua no mu
• Nsateaa anaa nkotodwe a wontumi ntrɛw mu koraa
• Nsateaa a wontumi ntrɛw mu koraa (Camptodactyly) ne nansoaa akɛse a ɛtrɛw
• Nsateaa nkwaa a asɛe
• Adwene mu dɛmdi ahorow
• Yafunu mu ntini a ɛho ayɛ hare no betumi ama obi anya hernia (intestinal protrusion).
• Scoliosis a ɛma obi ho kyere no
• Ntini a ɛyɛ den wɔ nsa ne nan mu a wɔte nka
• Ɛyɛ den sɛ wobedu nkɔso mu nsɛntitiriw ho wɔ nkokoaa ne mmofra nkumaa mu (sɛ nhwɛso no, wɔkyɛ wɔ ti a wɔma so, wohuruhuruw, tena ase, ne wɔnantew mu) .

Wobɛyɛ dɛn ahu eyi pɛpɛɛpɛ?

Sɛ wo duruyɛfo susuw sɛ Weaver Syndrome a, ebia ɔbɛhyɛ sɛ wɔnyɛ awosu mu nhwehwɛmu mfa nhwehwɛ EZH2 awosu mu nkwaadɔm mu nsakrae no . Mpɛn pii no, eyi hwehwɛ sɛ wɔfa mogya bi na wɔde kɔ baabi a wɔyɛ awosu mu nhwehwɛmu.

Ɛtɔ mmere bi a, wo duruyɛfo betumi asɔ awosu mu nkwaadɔm mu nsakrae pii ahwɛ de ayi awosu mu tebea afoforo afi hɔ. Wɔfrɛ eyi sɛ awosu mu nhwehwɛmu kuw . Nea enti a ɛte saa ne sɛ awosu mu tebea afoforo te sɛ Sotos syndrome wɔ hɔ a ɛwɔ sɛnkyerɛnne a ɛte sɛ Weaver Syndrome. Enti, sɔhwɛ kuw bi te sɛ eyi betumi aboa wo ma woahu awosu mu nkwaadɔm mu nsakrae pɔtee a wo anaa wo ba wɔ.

Dɛn ne ayaresa ahorow a wɔde sa Weaver Syndrome?

Mprempren wonni aduru biara a wɔde sa Weaver Syndrome. Nanso, wo duruyɛfo betumi aboa wo anaa wo ba no ma wɔadi tebea no ho dwuma denam ɔhwɛ nhyehyɛe a ɔbɛyɛ so . Sɛ nhwɛso no, ebia nea ɛka ɔhwɛ nhyehyɛe yi ho:

• Sɛ adwene mu dɛmdi wɔ hɔ a, suban ho akwahosan ho nhyehyɛe (e.g., nhomasua titiriw, suban ho ayaresa) wɔ hɔ.
• Sɛ komayare bi wɔ hɔ a wɔde awo obi a, fa Koma ne Ntini mu hwɛ sa na di ho dwuma .
• Mmoa foforɔ a wɔde bɛma wɔ sukuu adwuma ne adesua ho (e.g., nkyerɛkyerɛ soronko, nwomasua ho ɔfotufoɔ).
• Sɛ wowɔ ɔhaw ahorow wɔ wo nkwaa, wo nsa, anaa wo nan ho a, ebia ebehia sɛ wɔyɛ wo nnompe oprehyɛn anaa ayaresa foforo .
• Apɔw-mu- teɛteɛ a wɔde ma ntini ahoɔden ne nipadua no adwumayɛ.

Nea ɛho hia sen biara ne sɛ, esiane sɛ eyi nyinaa gu ahorow wɔ abofra biara mu nti, nnuruyɛfo kuw bi bom yɛ ɔhwɛ nhyehyɛe yi a ɛfata abofra no.

So ɔkwan bi wɔ hɔ a wɔbɛfa so asiw Weaver Syndrome ano?

Nea ɛyɛ awerɛhow no, mprempren ɔkwan biara nni hɔ a wonim a wɔbɛfa so asiw Weaver Syndrome ano.Mmofra betumi anya eyi afi wɔn awofo hɔ, nanso ebetumi nso afi wɔn ho so a abusua no mu biara nni bi. Ebetumi aba sɛ ɔwofo bi bɛyɛ awosu mu nsakrae yi kurafo, nanso ebia wonnim.

Mɛyɛ dɛn ahu sɛ mewɔ asiane mu?

Sɛ obi wɔ w’abusua mu wɔ tebea bi a wonya fi awo mu anaasɛ awosu mu nkwaadɔm mu nsakrae a wonim , ɛbɛyɛ papa sɛ wubebisa wo duruyɛfo awosu mu nhwehwɛmu ho asɛm. Saa nhwehwɛmu ahorow yi tumi hu awosu mu nkwaadɔm mu nsakrae ahorow bi a ebetumi de akwahosan ho haw aba. Saa nhwehwɛmu ahorow yi betumi aboa wo ma woahu awosu mu tebea horow a ebia wode bɛma wo mma no.

Dɛn ne obi a ɔwɔ Weaver Syndrome no anidaso?

Ɛwom sɛ wonni Weaver Syndrome aduru biara de, nanso nnipa a wɔwɔ yare no betumi atra ase yiye bere a wɔadi ho dwuma yiye no. Ade a ɛho hia sen biara ne sɛ wobɛkɔ wo duruyɛfo nkyɛn daa na wahwɛ wo yare no ho sɛnkyerɛnne ahorow no so na woanya ɔhwɛ a wuhia. Mmofra binom a wɔwɔ Weaver Syndrome no wɔ asiane mu sɛ wobenya kokoram bi a wɔfrɛ no neuroblastoma, nanso dodow no ara nnya bi. Nanso, wo duruyɛfo betumi ne wo akasa afa neuroblastoma ho sɛnkyerɛnne ahorow ho na sɛ ɛho hia a, obetumi ayɛ nhwehwɛmu foforo ama wo ba.

Bere bɛn na ɛsɛ sɛ wohwehwɛ aduruyɛ mu afotu? Nsɛnkyerɛnne bɛn na ɛsɛ sɛ wohaw wo ho?

Ɛho hia sɛ wokɔhwɛ wo daa na wo ne wo duruyɛfo kasa fa nipadua anaa adwene mu akwahosan ho haw biara a ebia wowɔ ho. Di ɔhwɛ nhyehyɛe a wo duruyɛfo de ma wo no akyi. Sɛ wo ba wɔ Weaver Syndrome a, ɛsɛ sɛ woyɛ saa ara.

Titiriw no, sɛ ɛte sɛ nea wo ba no wɔ neuroblastoma ho sɛnkyerɛnne a edidi so yi mu biara a, bɔ wo ba no oduruyɛfo amanneɛ ntɛm ara:

• Aniwa a ɛpuepue anaasɛ kurukuruwa tuntum a atwa aniwa no ho ahyia.
• Akuru anaa akisikuru foforo a ɛba kɔn anaa dua (yafunu, koko) so.
• Atiridiinini, yafunu a ɛyɛ yaw, aduan ho akɔnnɔ a ɛyera.
• Ɔbrɛ a ɛtra so a wobɛte nka sɛ atiridii anaa ɔfe.
• Nkuruwankuruwa bruu anaa kɔkɔɔ a ɛda adi wɔ honam ani.
• Wora a ɛyɛ mmerɛw.
• Yafunu mu a ɛyɛ hyew.
• Ɔhome a ɛyɛ den.
• Nan ne anan a ɛyɛ mmerɛw anaasɛ ɛyɛ obubuafo (te sɛ nea wontumi nnantew).

Nea etwa to no, nneɛma a ɛsɛ sɛ wokae (Take-Home Message) .

Ɛho hia sɛ yɛte ase sɛ Weaver Syndrome yɛ tebea a ɛntaa nsi koraa na ɛsono sɛnea ɛka obiara . Ɛwom sɛ aduru biara nni hɔ de, nanso sɛ wonya ayaresa a ɛfata ne ɔhwɛ ho nhyehyɛe a, wo anaa wo ba no betumi adi yare no ho sɛnkyerɛnne ahorow no ho dwuma na woatra ase a ahoɔden wom sɛnea wubetumi. Ɛho hia sɛ wunya ayaresa daa na wudi wo duruyɛfo akwankyerɛ akyi. Sɛ wo anaa w’abusua mu bi wɔ nsɛmmisa bi fa eyi ho a, ntwentwɛn wo nan ase sɛ wo ne oduruyɛfo bɛkasa. Wɔbɛtumi aboa wo.

`Weaver Syndrome, Awosu mu Nyarewa, Nnompe a Enyin, Ɔsorokɔ a Ɛkɔ Anim, EZH2 Awosu mu Awosu, Neuroblastoma