So wo ba no nyin ho asɛm haw wo? Momma yensua Lamb-Shaffer Syndrome ho ade!

So ɛtɔ mmere bi a wote nka sɛ wo ba ketewa no aka akyi kakra wɔ wɔn nkɔso mu? Anaasɛ wususuw sɛ wɔaka akyi ansa na wɔafi ase abɔ nkɔmmɔ? Ɛtɔ da bi a, ɛyɛ ade a ɛfata sɛ yɛn a yɛyɛ awofo no bɛhaw yɛn ho kakra bere a yehu nneɛma a ɛte sɛɛ no. Ɛnnɛ, yɛbɛka awosu mu tebea bi a ɛntaa nsi koraa a ɛda saa sɛnkyerɛnne ahorow yi bi adi ho asɛm. Wɔfrɛ no Oguammaa-Shaffer Syndrome.

Dɛn ne Oguammaa-Shaffer Syndrome?

Sɛ yɛbɛka no tiawa a, Lamb-Shaffer Syndrome (LAMSHF) yɛ awosu mu tebea a ɛntaa nsi koraa. Sɛ wote asɛmfua 'awosu' a, ebia wubesusuw sɛ, "Oo, so eyi yɛ biribi a ɛkɔ so wɔ abusua no mu?" Momma yenni kan nka saa asɛm no ho asɛm. Saa tebea yi betumi ama abofra nkɔso akyɛ . Eyi kyerɛ sɛ egye bere kakra ansa na akokoaa asɔre atra ase nantew. Ebetumi ama kasa mu ayɛ basaa ne adwene mu dɛmdi nso. Ebia mmofra binom nso wɔ suban mu nsonsonoe . Sɛ nhwɛso no, ebia wɔyɛ nnam dodo kakra anaasɛ ɛyɛ den ma wɔn sɛ wɔbɛyɛ aso. Ɛnyɛ ɛno nko, na mmom ɛtɔ mmere bi a wubetumi ahu nsakrae kakra wɔ anim no nsusuwii mu anaasɛ nsakrae bi mpo wɔ nnompe mu. Nanso, ɛnyɛ saa su ahorow yi nyinaa na ɛba abofra biara mu, na ebia ɛsono abofra biara.

Wɔde nhwehwɛmufo baanu a wodii kan huu tebea no wɔ afe 2012. Efi saa bere no, wɔayɛ nhwehwɛmu foforo ne nsɛm a ɛfa saa asɛm yi ho no din ‘Lamb-Shafer’.

Nanso, sɛ wubisa sɛnea eyi abu so a, nokwarem no, ɛyɛ den ma nnuruyɛfo sɛ wɔbɛka no pɛpɛɛpɛ. Efisɛ ɛho yɛ na koraa . Ɛde besi nnɛ no, nsɛm a ɛte sɛɛ a wɔakyerɛw wɔ aduruyɛ ho kyerɛwtohɔ mu wɔ wiase nyinaa no nnu 100. Enti sɛ woante eyi ho asɛm da a, ɛnyɛ nwonwa.

Dɛn na ɛde tebea yi ba? (Momma yensua SOX5 awosu mu abɔde no ho ade)

Okay, enti momma yɛnhwɛ nea enti a Lamb-Schafer Syndrome (LAMSHF) yi ba. Sɛnea madi kan aka no, eyi yɛ awosu mu yare . Awosu mu nkwaadɔm wɔ yɛn nipadua mu nkwammoaa biara mu. Ɛnyɛ sɛ saa awosu mu nkwaadɔm yi na ɛkyerɛ yɛn tenten, yɛn kɔla, ne yɛn ti nhwi nwene nko, na mmom ɛboa ma yɛhwɛ yɛn nipadua no dwumadi ahorow so nso. Ɛte sɛ dwumadi bi a ɛwɔ kɔmputa mu.

Nsakrae (nsakrae) a ɛba awosu mu abɔde pɔtee bi mu wɔ yɛn nipadua mu na ɛde Lamb-Schafer yare no ba. Wɔfrɛ saa awosu mu abɔde yi `SOX5` awosu mu abɔde . Mpɛn pii no, obi a ɔwɔ apɔwmuden wɔ saa `SOX5` awosu mu abɔde yi abien wɔ ne nipadua mu, na abien no nyinaa yɛ adwuma yiye. Nanso, obi a ɔwɔ Lamb-Schafer syndrome no wɔ ɔyare mmoawa a ɛyɛ soronko wɔ `SOX5` awosu mu abɔde yi mfonini biako mu., a ɛkyerɛ sɛ nsakrae a epira aba. Sɛ mfonini foforo no yɛ nea ɛfata mpo a, ɛyɛ nsakrae a ɛba awosu mu abɔde biako yi mu nti na sɛnkyerɛnne ahorow no da adi.

`SOX5` awosu mu abɔde no yɛ awosu mu abɔde a ɛho hia a ɛboa ma yɛyɛ protein wɔ yɛn nipadua mu (protein synthesis) na ɛhwɛ nkwammoaa ahorow bi nyin so, titiriw wɔ amemene ne nipadua mu . Enti sɛ sintɔ bi wɔ saa awosu mu abɔde yi mu a, akwan horow a ɛfa ho no betumi aka. Ate aseɛ?

De Novo Mutations ne Sɛnea Wonya Fi Awo Mu

Afei ebia worebisa wo ho sɛ, "So eyi yɛ biribi a wunya fi w'awofo hɔ?" Mpɛn pii no, kyerɛ sɛ, mmofra dodow no ara a wɔwɔ Lamb-Schafer syndrome no nya tebea no esiane nkwaadɔm mu nsakrae foforo (de novo mutation) nti. 'De novo' kyerɛ sɛ 'foforo'. Sɛ yɛbɛka no tiawa a, awofo baanu no nyinaa betumi anya `SOX5` awosu mu abɔde no mfonini a ɛte apɔw wɔ wɔn nipadua mu nkwammoaa mu. Nanso, bere a wɔrenyinsɛn no, nsakrae a ɛba `SOX5` awosu mu abɔde mu no betumi aba ara kwa wɔ mmadwoa anaa nkesua no mu. Eyi nyɛ obiara mfomso. Eyi yɛ nea ɛbae ara kwa.

Nanso mmofra kakraa bi pɛ (bɛyɛ 15%) , bɛyɛ 100 biara mu 15, wɔ saa tebea yi efisɛ awofo no mu biako mmoawa nkwammoaa (nkwaboaa anaa nkesua) kakraa bi pɛ na wɔwɔ SOX5 awosu mu nkwaadɔm mu nsakrae. Eyi kyerɛ sɛ nkwammoaa afoforo a ɛwɔ ɛna anaa agya no nipadua mu no nni saa mutation yi, enti saa awofo no nkyerɛ Lamb-Schafer syndrome ho sɛnkyerɛnne. Nanso, ebia wɔn mmoawa nkwammoaa no bi pɛ na wɔanya saa nsakrae yi. Wɔfrɛ eyi ``germline mosaicism''. Ɛyɛ den kakra, nanso nnuruyɛfo betumi akyerɛkyerɛ mu akyerɛ wo kɛse.

Ɛntaa mma mpo sɛ abofra betumi anya tebea no afi ɔwofo bi a ɔwɔ Lamb-Schafer syndrome hɔ. Sɛ ɛba saa a, saa abofra no wɔ hokwan 50% sɛ obenya tebea no. Eyi kyerɛ sɛ ebia mmofra baanu biara mu biako benya bi, anaasɛ obiara nni bi koraa.

Dɛn ne sɛnkyerɛnne ahorow no? Woyɛ dɛn hu no?

Okay, afei ma yɛnhwɛ sɛnkyerɛnne ahorow a ebia wubehu wɔ abofra a ɔwɔ Lamb-Schafer Syndrome (LAMSHF) mu. Kae sɛ ɛnyɛ saa sɛnkyerɛnne ahorow yi nyinaa na ɛbɛba abofra biara mu, ebia ebinom benya sɛnkyerɛnne ahorow no bi nkutoo, anaasɛ sɛnea sɛnkyerɛnne ahorow no mu yɛ den no betumi ayɛ soronko.

Mpɛn pii no, nsɛnkyerɛnne a edi kan a ɛda adi ne kasa ne nipadua mu ahoɔden a ɛkyɛ. Nneɛma a ɛma obi tumi yɛ adwuma no bi ne nneɛma te sɛ ɔtra ase, ɔwea, ne nantew. Ebia eyinom begye bere kakra ansa na wo ba no ayɛ. Nkokoaa nkumaa nso betumi anya ntini mu ahoɔden a ɛba fam (hypotonia) , a ɛkyerɛ sɛ ebia wɔn nipadua a ɛyɛ mmerɛw.

Nsɛnkyerɛnne a wɔtaa hu

Bere a abofra no nyin no, ebia wubehu yare no ho sɛnkyerɛnne pii. Eyinom bi ne:

• Ɔkasa mu nkɔso a ɛkyɛ: Ebia ɛbɛyɛ den ama mmofra binom sɛ wɔbɛka nsɛmfua abom na wɔayɛ kasamu. Ebia ebinom mpo befi ase akasa akyiri yi koraa.
• Adwene a wɔde si biribi so a wɔatwa:Ebetumi ayɛ den sɛ wode w’adwene besi ade biako so akyɛ. Ɛnyɛ den sɛ wobɛtwetwe w’adwene.
• Nneɛma a wɔyɛ boro so: Ɛyɛ den sɛ wobɛtra baabi biako, betumi anya su a ɛne sɛ obetu mmirika akɔ akyirikyiri na wadi agoru bere nyinaa.
• Adwene mu dɛmdi: Ebia ɛbɛyɛ den bi sɛ wobesua nneɛma foforo, akae nneɛma, na wɔadi ɔhaw ahorow ho dwuma. Ɛsono sɛnea eyi te wɔ onipa biara mu.
• Nsusuwii a ɛnteɛ: Ɛtɔ mmere bi a wubehu sɛ wo ba no reyɛ ade koro no ara (te sɛ ne nsa a ɔbɔ anaasɛ ɔwosow ne ti) mpɛn pii. Eyinom yɛ nneɛma a wɔyɛ a wontumi nni so.
• Tew a wɔtew wɔn ho fi afoforo ho: Ebia nnipa a wɔne afoforo bɛbɔ, wɔne wɔn adi agoru, anaa wɔne wɔn bɛbɔ nkɔmmɔ ho anigye nni hɔ.
• Abufuw: Ɛyɛ den ma mmofra binom sɛ wobedi wɔn nkate so, enti ebia wɔn abufuw ne abufuw a ɛtaa ba .
• Aniwa mu haw ahorow: Ebia mmofra binom benya strabismus , aniwa a ɛbɔ wɔn ho ban bi, anaasɛ mfomso a ɛma wotumi hu ade yiye , te sɛ nea wotumi hu ade yiye anaasɛ n’aniwa a ɛyɛ mmerɛw, a ebia ebehia sɛ wɔhyɛ ahwehwɛ.

Ɛnyɛ abofra biara a ɔwɔ saa sɛnkyerɛnne ahorow yi mu biako anaa abien na ɔwɔ Lamb-Schafer syndrome, na ɛno nti na ɛho hia sɛ ɔhwehwɛ aduruyɛfo afotu no.

Ade foforo ne sɛ mmofra a wɔwɔ Lamb-Schafer syndrome bɛyɛ 10 biara mu biako betumi anya akisikuru . Nanso ɛnyɛ saa na ɛte wɔ obiara fam.

Nsakrae a ɛba anim ne nipadua mu

Mmofra binom betumi anya nsakrae pɔtee bi wɔ wɔn anim ne wɔn nipadua nnompe mu. Nanso, ebia nsakrae yi renhu kɛse, na ebia oduruyɛfo nkutoo na obehu.

• Hwene a ɛtrɛw
• Moma so a ɛda nsow (`frontal bossing`) .
• Abɔso ketewa anaa anom
• Strabismus (ani a wɔatwa) .
• Anofafa a ɛwɔ soro a ɛyɛ tratraa anaasɛ anofafa a ɛyɛ ma a ɛnteɛ
• Nnompe biako anaa nea ɛboro saa a ɛwɔ kɔn no mu a ɛnyɛ pɛpɛɛpɛ
• Anim a ɛyɛ kurukuruwa wɔ akyi berɛmo no mu (kyphosis) .
• Wɔn akyi berɛmo mu a ɛnyɛ pɛpɛɛpɛ (scoliosis) .

Sɛ wohu sɛnkyerɛnne te sɛ eyinom a, nnuruyɛfo yɛ nhwehwɛmu foforo de hu nea ɛde ba.

Wobɛyɛ dɛn ahu eyi pɛpɛɛpɛ? (Nyare a Wɔahu) .

Nnuruyɛfo de awosu mu nhwehwɛmu di dwuma de hu sɛ ebia abofra bi wɔ Lamb-Schafer syndrome (LAMSHF) anaa. Sɛ nhwɛso no, sɛ abofra bi kyɛ wɔ kasa anaa nantew mu, anaasɛ nsakrae nketenkete bi ba anim anaa nnompe nhyehyɛe mu a, nnuruyɛfo betumi akamfo awosu mu nhwehwɛmu a ɛte sɛɛ akyerɛ.

Saa awosu mu nhwehwɛmu yi nkutoo ne ɔkwan a wɔfa so hu pɛpɛɛpɛ sɛ ebia nsakrae bi wɔ `SOX5` awosu mu abɔde a yɛadi kan aka ho asɛm no mu anaa. Mpɛn pii no, eyi yɛ nhwehwɛmu a wɔyɛ wɔ mogya bi ho.

So wubetumi ahu bere a wonyinsɛn no?

Mpɛn pii no, ɛnyɛ obiara na wɔyɛ Lamb-Schafer syndrome ho nhwehwɛmu wɔ nyinsɛn mu. Eyi te saa efisɛ ɛyɛ tebea a ɛntaa nsi koraa. Nanso, sɛ wonim sɛ ɛna no anaa abusua muni bi a ɔbɛn no no wɔ nkwaadɔm mu nsakrae wɔ `SOX5` awosu mu abɔde mu, anaasɛ obi a ɔwɔ abusua no mu wɔ Lamb-Schafer syndrome , nnuruyɛfo betumi ahyɛ nyansa sɛ wɔnyɛ tebea no mu nhwehwɛmu bere a wɔyem no. Wɔ tebea a ɛte saa mu no, wobetumi ayɛ sɔhwɛ te sɛ `(amniocentesis)` wɔ oduruyɛfo bi a ɔyɛ ɔbenfo afotu so.

Dɛn ne ayaresa ahorow no?

Mprempren wonni aduru pɔtee biara a wɔde sa Lamb-Schafer syndrome (LAMSHF), a ɛkyerɛ sɛ ebetumi asa yare no koraa. Nanso, ɛno nkyerɛ sɛ yɛrentumi nyɛ hwee. Ayaresa botae titiriw ne sɛ ɛbɛma abofra no asetra atu mpɔn na aboa no ma wayɛ da biara da dwumadi ahorow.

Eyi betumi ayɛ ayaresa ne nnwuma ahorow. Nhwɛsoɔ:

• Suban ho aduruyɛ: Eyi boa ma abofra no nneyɛe a ɛmfata so tew na ɛhyɛ suban pa ho nkuran.
• Ankorankoro Nhomasua Dwumadie (IEP) anaa Nhomasua Titiriw Dwumadie: Saa nhyehyeɛ yi boa ma mmofra a wɔadu sukuu mfeɛ mu nkyerɛkyerɛ a wɔayɛ ama wɔn adesua ahiadeɛ.
• Ɔkasa mu ayaresa: Eyi ho hia yiye ma mmofra a wɔn kasa mu yɛ den na ama wɔn nkitahodi ho nimdeɛ atu mpɔn.
• Apɔw-mu-teɛteɛ: Mmofra a wɔwɔ akyi ho haw (te sɛ scoliosis ne kyphosis) nya apɔw-mu-teɛteɛ de ma wɔn gyinabea tu mpɔn, hyɛ wɔn ntini mu den, na ebia wɔde nneɛma a ɛboa wɔn ma wɔnantew.
• Awosu mu afotu: Eyi boa awofo ma wɔte abofra no tebea ase, ma wohu nsɛm foforo, na wɔne abusua no mufo afoforo kasa fa asiane ahorow a ɛwɔ tebea no mu ho.
• Aniwa ho nhwehwɛmu: Ɛho hia sɛ wokɔ aniwa ho oduruyɛfo nkyɛn kɔsa aniwa mu haw ahorow.
• Ntini mu nhwehwɛmu: Ntini ho ɔbenfo betumi aboa wɔ ɔhaw ahorow a ɛfa ntini ahorow ho, te sɛ akisikuru ne nantew a ɛnteɛ ho.
• Nnompe mu nhwehwɛmu: Ɔhaw ahorow a ɛfa nnompe nhyehyɛe ho, te sɛ scoliosis, betumi ahwehwɛ sɛ nnompe ho oduruyɛfo boa.

Wɔyɛ eyinom nyinaa de boa abofra no ma ɔtra ase yiye na ahotɔ wom sɛnea obetumi biara.Esiane sɛ ebia ɛsono ayaresa a ankorankoro biara hia nti, nnuruyɛfo kuw bi bɛbom ahwɛ nea eye ma abofra no.

So mmofra a wɔbɛba daakye nso bɛkɔ asiane mu?

Sɛ wunim sɛ wo anaa obi a ɔwɔ w’abusua mu wɔ `SOX5` awosu mu nkwaadɔm mu nsakrae, na worehwɛ abofra foforo kwan a, ɛyɛ papa sɛ wobɛkɔ awosu mu ɔfotufo nkyɛn . Obetumi akyerɛkyerɛ hokwan a ɛwɔ hɔ sɛ wode tebea no bɛma mmofra a wɔbɛba daakye, ne sɛnea sɛ woyɛ saa a ebetumi aka wo ne wo ba no mu akyerɛ wo. Eyi bɛboa wo ma woasisi gyinae a ɛfata.

Asetra bɛyɛ dɛn wɔ tebea yi mu? (Nkɛntɛnso a ɛtra hɔ kyɛ) .

Sɛnea mprempren nsɛm kyerɛ no, ɛte sɛ nea Lamb-Schafer syndrome (LAMSHF) nnya obi nkwa nna so nkɛntɛnso. Ɛno yɛ ahotɔ kakra, ɛnte saa? Nanso, tebea yi a wobɛtra no betumi ayɛ soronko wɔ onipa biara ho, na ɛsono sɛnea obi asetra te.

Ebia nnipa binom rentumi nyɛ wɔn adwuma wɔ wɔn ho. Ɛdenam wɔn adwene so no, ebia wobehia obi a ɔhwɛ wɔn mmoa wɔ wɔn nkwa nna nyinaa mu. Nanso, sɛ wɔsa wɔn yare na wɔboa wɔn yiye a, wɔn nso wobetumi atra ase anigye ne nea mfaso wɔ so.

Nneɛma a ɛsɛ sɛ wubisa wo duruyɛfo

Sɛ wowɔ nsɛmmisa bi fa wo ba anaa tebea yi ho a, nsuro da sɛ wubebisa wo duruyɛfo anaa ɔyarehwɛfo. Wubetumi abisa nneɛma te sɛ:

• Dɛn ne Lamb-Schafer yare no ho sɛnkyerɛnne?
• Sɔhwɛ bɛn na ɛsɛ sɛ meyɛ de hu sɛ ebia me ba no wɔ saa tebea yi ankasa anaa?
• Ayaresa ahorow bɛn na ɛwɔ hɔ?
• Sɛ mewɔ abofra foforo a, hokwan bɛn na ɛwɔ hɔ sɛ ɔno nso benya saa tebea yi?

Ɛho hia paa sɛ wubisa nsɛm te sɛ eyinom na wusiesie nsɛm a ɛwɔ w’adwene mu no.

Nkrasɛm a Wɔde Kɔ Fie

Lamb-Shaffer Syndrome (LAMSHF) yɛ awosu mu yare a ɛntaa nsi koraa. Ebetumi ama mmofra akyɛ wɔn nkɔso, wɔn adwene mu ayɛ wɔn basaa, na wɔasesa wɔn anim . Mmofra binom nso betumi anya akyi ho haw.

Ɛwom sɛ wonni eyi ano aduru de, nanso ayaresa ahorow (te sɛ kasa mu ayaresa, nneyɛe ho ayaresa, ne nhomasua titiriw) wɔ hɔ a wɔde ma abofra no tumi ne n’asetra tu mpɔn.

Mprempren wogye di sɛ tebea yi nni nkwa nna so nkɛntɛnso biara. Nanso, ebia mmofra binom behia sɛ wɔhwɛ wɔn wɔn nkwa nna nyinaa. Sɛ wowɔ adwenem naayɛ anaa dadwen bi wɔ eyi ho a, hwehwɛ aduruyɛfo afotu ntɛm ara. Ɛno ne ade a eye sen biara a ɛsɛ sɛ woyɛ.

` Lamb-Shaffer Syndrome, LAMSHF, SOX5 gene, awosu mu yare, nkɔso a ɛkyɛ, kasa mu nsɛnnennen, adwene mu dɛmdi