Dɛn ne Christianson Syndrome? So yɛbɛka awosu mu tebea a ɛntaa nsi yi ho asɛm?

So woasusuw ho pɛn sɛ ebia wo ba no nyin kyɛ anaa? Anaasɛ ɛte sɛ nea ɛyɛ den ma wɔn sɛ wɔbɛnantew anaa wɔbɛkasa? Ɛtɔ mmere bi a, awosu mu tebea bi a ɛntaa nsi betumi de saa sɛnkyerɛnne ahorow yi aba. Ɛnnɛ yɛrebɛka tebea bi a ɛntaa nsi nanso ɛho hia a ɛsɛ sɛ yɛma yɛn ani da hɔ ho asɛm. Wɔfrɛ no Christianson Syndrome. Mma ɛnhaw wo, ɛho hia paa sɛ wuhu eyi.

Dɛn ne Christianson Syndrome?

Sɛ yɛbɛka no tiawa a, Christianson Syndrome yɛ awosu mu yare a wɔntaa nhu koraa . Eyi ka yɛn ntini ahorow titiriw. Susuw ho hwɛ, ntini ahorow no ne nhyehyɛe titiriw a ɛde nkrasɛm kɔ yɛn nipadua mu na ɛhwɛ nneyɛe nyinaa so. Enti sɛ eyi ka eyi a, nneɛma te sɛ nantew ne ɔkasa betumi asɛe. Nnipa a wɔwɔ saa tebea yi nya nkɔso a ɛkyɛ anaasɛ wɔn adwene mu yɛ wɔn naa. Mpɛn pii no, saa sɛnkyerɛnne ahorow yi fi ase da adi wɔ mmofraase.

Henanom na tebea yi ka no kɛse? Dɛn nti na ɛte sɛ nea ɛka mmarimaa nkutoo?

Afei hwɛ, mmarimaa na wohu yare a wɔfrɛ no Christianson Syndrome yi kɛse . Ntease pɔtee bi wɔ hɔ a enti ɛte saa. Ɛyɛ "X-linked genetic disorder", a ɛkyerɛ sɛ efi awosu mu sintɔ bi a ɛfa X chromosome ho.

Yɛn nyinaa wɔ nneɛma nketenkete a wɔfrɛ no chromosomes wɔ yɛn nkwammoaa mu a ɛkora awosu mu nsɛm so. Mmea wɔ X chromosome abien (XX), na mmarima wɔ X chromosome biako ne Y chromosome biako (XY).

Enti, sɛ ɔbea bi wɔ awosu mu nkwaadɔm mu nsakrae a ɛma Christiansen yare no wɔ X chromosome biako so mpo a, nanso X chromosome foforo a ɛwɔ apɔwmuden no ntaa mfa sɛnkyerɛnne biara mma. Wobetumi ayɛ wɔn a wɔde yare no kɔ . Ɛno kyerɛ sɛ wɔwɔ awosu mu abɔde a ɛma wonya no ɛmfa ho sɛ wonni yare no.

Nanso sɛ ɔbarima bi wɔ saa awosu mu nkwaadɔm mu nsakrae yi wɔ ne X chromosome biako pɛ no so a, akyinnye biara nni ho sɛ obenya yare no ho sɛnkyerɛnne efisɛ onni X chromosome a ɛte apɔw a ɔde bɛyɛ adwuma no. Sɛ ɔbea betumi anya saa yare yi a, ɛsɛ sɛ onya saa nkwaadɔm mu nsakrae yi wɔ X chromosome abien no nyinaa so. Ɛno ho yɛ na koraa, a ɛkyerɛ sɛ hokwan a ɛwɔ hɔ sɛ ɛbɛba no sua koraa.

Christianson Syndrome abu so dɛn?

Nokwarem no, ɛyɛ den sɛ yɛbɛka sɛnea eyi abu so no ankasa afi akontaabu mu. Efisɛ ɛyɛ tebea a ɛntaa nsi koraa. Nnuruyɛfo ka sɛ ɛho yɛ na koraa .Ɛyɛ tebea a ɛntaa nsi. Akontaabu ahorow bi kyerɛ sɛ ebia mmarimaa 600 biara a wɔwɔ adwene mu dɛmdi a ɛne X wɔ abusuabɔ no mu biako benya saa tebea yi. Nhwehwɛmu foforo daa no adi sɛ Christianson Syndrome ba wɔ mmusua bɛyɛ 100 biara mu biako a abofra bi a ɔwɔ nkɔso mu dɛmdi a ɛne X wɔ abusuabɔ mu. Enti, wubetumi ahu sɛnea eyi ho yɛ na, ɛnte saa?

Dɛn ne Christianson Syndrome ho sɛnkyerɛnne ahorow?

Okay, enti momma yɛnhwɛ sɛnkyerɛnne ahorow a abarimaa a ɔwɔ Christianson Syndrome da no adi. Ebia wubehu eyinom bi anaa ne nyinaa. Ɛnyɛ abofra biara na obenya yare no ho sɛnkyerɛnne no nyinaa, na ɛno yɛ biribi a ɛsɛ sɛ yɛma ɛtra yɛn adwenem.

Nneɛma atitiriw a wɔtaa hu ne:

• Ɔhaw ahorow a ɛwɔ nantew ne kari pɛ mu (ataxia): Eyi kyerɛ sɛ ɛyɛ den sɛ wobɛkari pɛ, na ebia wobɛte nka sɛ wuntumi nnyina anaasɛ wuntumi nnyina bere a wonam no.
• Akisikuru: Eyi kyerɛ sɛ tebea horow te sɛ akisikuru betumi aba. Eyi yɛ adwene a ɛyera mpofirim na ɛma obi ho popo.
• Aniwa ho haw: Sɛ nhwɛso no, strabismus, anaa sɛnea yɛka no, ‘aniwa a wɔatwa’, yɛ tebea a ɛte saa.
• Kasa a wontumi nkasa anaasɛ ɔhaw a emu yɛ den: Ebia ɛyɛ den sɛ wɔbɛhyehyɛ nsɛmfua, anaasɛ mpo wontumi nkasa koraa, anaa kasa a wontumi nka no sua koraa.
• Adwene mu dɛmdi: Ebia tumi a wontumi sua ade, nte ase, ne nea ɛkeka ho nni hɔ.. Sɛnea eyi te betumi ayɛ soronko wɔ onipa biara ho.
• Microcephaly: Ebia ti no bɛyɛ ketewaa sen sɛnea ɛte daa. Wɔde abofra no mfe ne ne bɔbeasu na esusuw eyi ho.

Nea ɛka eyi ho no, wobetumi ahu nneɛma afoforo bi:

• Autism spectrum disorder: Nsɛnkyerɛnne te sɛ ɔpɛ a ɔmpɛ sɛ ɔde ne ho bɛhyɛ ayɔnkofa mu, afoforo a ɔne wɔn bedi, ne nneyɛe a wɔtaa yɛ.
• Cerebellar atrophy: Yɛn amemene no fã a ɛhwɛ kari pɛ ne kankyee so a wɔfrɛ no cerebellum no betumi agyae nyin anaasɛ atew.
• Ɔhaw ahorow a ɛwɔ aduan mu: Sɛ nhwɛso no, tebea horow te sɛ gastroesophageal reflux disease (GERD), a ɛde sɛnkyerɛnne ahorow te sɛ komayare ne koma a ɛsan kɔ nipadua no mu ba.
• Nantew a wobɛhwere: Ebia mfiase no wubetumi anantew, nanso bere kɔ so no, saa tumi no so betumi atew anaasɛ ayera mpo. Wɔfrɛ eyi ‘regression’ .
• Ntini mu mmerɛwyɛ (hypotonia): Ebia nipadua no bɛte nka sɛ ayɛ mmerɛw na ayɛ mmerɛw, te sɛ rɔba abofra.
• Mu duru a ɛso tew anaasɛ ne tenten a ɛso tew:Ebia wobɛtew wo mu duru ne wo tenten a ɛfata wo mfe so. Ɛno kyerɛ sɛ ebia wo nyin bɛyɛ mmerɛw.

Nea ɛyɛ nwonwa ankasa ne sɛ ɛtɔ mmere bi a mmofra a wɔwɔ Christianson Syndrome no da sɛnkyerɛnne ahorow a ɛte sɛ mmofra a wɔwɔ awosu mu yare foforo a wɔfrɛ no Angelman syndrome adi, te sɛ nea ɛte sɛ nea wɔn ani agye a ntease biara nnim na wɔserew bere nyinaa.

Sɛnea yɛadi kan aka no, mmea a wɔwɔ awosu mu nsakrae yi, kyerɛ sɛ, wɔn a wɔde nneɛma kɔ no betumi anya adesua mu dɛmdi, nanso wɔntaa nhu sɛnkyerɛnne afoforo a emu yɛ den a mmarimaa nya no.

Dɛn na ɛde Christianson Syndrome ba?

Sɛ yɛhwɛ nea ɛde eyi ba a, Christianson Syndrome yɛ awosu mu yare . Ɛne sɛ, nsakrae anaa nsakrae a ɛba awosu mu nkwaadɔm bi mu na ɛde ba. Sɛ yɛbɛka no pɛpɛɛpɛ a, ɛnam nkwaadɔm mu nsakrae bi a ɛba awosu mu abɔde a wɔfrɛ no SLC9A6 a ɛwɔ X chromosome no so no mu.

Saa awosu mu nkwaadɔm mu nsakrae yi fi awofo hɔ kɔ mmofra hɔ. Mpɛn pii no, awofo a wɔde saa nkwaadɔm mu nsakrae yi ma wɔn mma no yɛ wɔn a wɔde yare no ba. Eyi kyerɛ sɛ ɛwom sɛ wɔanya nsakrae yi wɔ wɔn awosu mu de, nanso wɔnda yare no ho sɛnkyerɛnne adi.

Ɔkwan bɛn so na wohu yare yi?

Sɛ oduruyɛfo bi hu wo anaa wo ba a, ebia obesusuw sɛ ɔwɔ Christianson Syndrome sɛ ɔwɔ sɛnkyerɛnne ahorow a yɛadi kan aka ho asɛm no bi a.

Fa no sɛ, wɔwoo Kasun kumaa te sɛ nkokoaa afoforo. Nanso nkakrankakra, n’awofo hui sɛ Kasun anyin kakra sen mmofra afoforo. Ɔkaa akyi sɛ ɔbɛkura ne kɔn mu yiye, ɔkaa akyi sɛ ɔrehuruhuruw, na ɔkaa akyi sɛ ɔbɛtra ase. Afei, sɛ ofi ase nantew a, na ɔtaa hwe ase, te sɛ nea onni kari pɛ. Ɔsan nso fii ase kasae akyiri yi, nanso na ne nsɛm no mu nna hɔ. Bere a ofii ase kɔɔ sukuu akyi no, na ɛyɛ den ma no sɛ ɔbɛte adesua ahorow ase. Ɛyɛ bere a ɔde no kyerɛɛ oduruyɛfo bi, na ɔyɛɛ nhwehwɛmu ahorow na ohuu tebea bi a wɔfrɛ no Christianson Syndrome no nkutoo.

Nea ɛbɛyɛ na wɔasi eyi so dua, anaasɛ wɔapow no, wɔyɛ mogya mu nhwehwɛmu titiriw bi . Wɔde mogya mu nhwehwɛmu yi di dwuma de hu sɛ ebia nsakrae bi wɔ awosu mu abɔde a wɔfrɛ no SLC9A6 no mu anaa. Wɔfrɛ eyi awosu mu nhwehwɛmu .

Dɛn ne ayaresa ahorow a wɔde sa Christianson Syndrome?

Asɛmmisa a nnipa pii bisa ne sɛ ebia aduru pɔtee bi wɔ hɔ a wɔde bɛsa eyi anaa. Nokwarem no, wonnya nnyaa aduru biara. Nanso, ɛnsɛ sɛ ɛno ma w’abam bu. Ayaresa pii wɔ hɔ a ebetumi aboa ma wɔadi yare no ho sɛnkyerɛnne no so na ama abofra no ne abusua no asetra atu mpɔn.

Ebia wo anaa wo ba ayaresa nhyehyɛe no bi ne:

• Aniwa mu haw ho ayaresa: nneɛma te sɛ ahwehwɛ, ne ebia oprehyɛn a wɔbɛyɛ de asiesie aniwa a ɛyɛ mmerɛw (strabismus).
• Ankorankoro Nhomasua Nhyehyɛe (IEPs): Boa mmofra a wɔwɔ adwene anaa adesua mu dɛmdi ma wonsua ade wɔ ɔkwan a ɛfata wɔn so.
• Nnuru a wɔde ko tia akisikuru: Nnuru a nnuruyɛfo kyerɛw ma wɔn na ama akisikuru a ɛtaa ba ne sɛnea emu yɛ den no so tew.
• Apɔw-mu-teɛteɛ: Eyi boa kɛse ma nipadua no ahoɔden, ntini mu ahoɔden, nantew tumi, ne kari a ɛkari pɛ no tu mpɔn.
• Ɔkasa mu ayaresa: Ɛma kasa ne nkitahodi ho nimdeɛ tu mpɔn. Obetumi akyerɛkyerɛ nkitahodi akwan afoforo nso ama wɔn a wontumi nkasa.
• Adwuma mu ayaresa: Ɛboa ma wɔyɛ da biara da nnwuma te sɛ ntadehyɛ, adidi, ne da biara da asetra mu dwumadi afoforo.

Wɔyɛ eyinom nyinaa de boa abofra no ma ɔtra ase yiye.

So wobetumi asiw Christianson Syndrome ano?

Nokwarem no, ɔkwan biara nni hɔ a wɔbɛfa so asiw Christianson Syndrome anaa awosu mu nkwaadɔm mu nsakrae a ɛde ba no ano, efisɛ efi awosu mu.

Nanso, sɛ wususuw sɛ ebia wo na wowɔ saa yare yi, anaasɛ obi wɔ w’abusua mu wɔ saa tebea yi a, wubetumi ayɛ wo awosu mu nhwehwɛmu .

Nea ɛka awosu mu nhwehwɛmu yi ho ne sɛ wobɛfa wo mogya bi na woahwehwɛ awosu mu nsakrae ahorow bi. Afei awosu ho ɔfotufo bi bɛkyerɛkyerɛ nea efii nhwehwɛmu no mu bae mu akyerɛ wo. Wɔbɛboa wo ma woate nea nkwaadɔm mu nsakrae yi de ba ne sɛnea ɛda adi sɛ wobɛwo abofra a ɔwɔ Christianson Syndrome ase. Eyi betumi ayɛ nea ɛho hia yiye sɛ wubehu ansa na woafi abusua ase anaa woawo abofra foforo.

Asetra bɛyɛ dɛn wɔ tebea yi mu? (Nsusuwii) .

Sɛ wɔde ɔhwɛ pa a ɛboa, te sɛ nipadua mu ayaresa ne kasa mu ayaresa a, nnipa a wɔwɔ Christianson Syndrome no betumi atra ase a ɛkorɔn . Wobetumi ayɛ adwuma sɛnea wobetumi biara.

Esiane sɛ wɔda so ara kɔ so yɛ nhwehwɛmu wɔ yare yi ho nti, wonnya nkwa nna ho nsɛm pɔtee biara. Nanso, mpɛn pii no, nnipa a wɔwɔ saa yare yi nkwa nna a ɛfata. Nanso, ɛtɔ mmere bi a wotumi hu tebea bi a wɔfrɛ no ‘regression’ , a ɛkyerɛ sɛ tumi ahorow a na ɛwɔ hɔ kan no so tew. Sɛ nhwɛso no, tumi a obi tumi kasa anaa ɔnantew no betumi ayɛ papa kakra, nanso afei asɛe bio. Ɛyɛ papa sɛ wo ne wo nnuruyɛfo bɛkasa afa nneɛma a ɛtete saa ho na woasiesie wo ho sɛ wubegyina ano.

Nsɛm bɛn na ɛsɛ sɛ wubisa oduruyɛfo no?

Sɛ wususuw sɛ wo anaa wo ba wɔ Christianson Syndrome, anaasɛ wɔahu sɛ wowɔ yare no a, wubetumi abisa wo duruyɛfo saa nsɛm yi. Nsuro sɛ wobɛbisa biribiara a ɛwɔ w’adwene mu.

• Nhwehwɛmu bɛn na wɔde hu Christianson Syndrome?
• Dɛn ankasa na ɛde eyi ba? So ɛyɛ ɔhaw a ɛfa m’awosu mu nkwaadɔm ho?
• Dɛn ne ayaresa a wobetumi apaw ama eyi? Ayaresa bɛn na eye ma me ba?
• Dɛn na metumi ayɛ wɔ fie na ama me ba a ɔwɔ Christianson Syndrome no asetra atu mpɔn?
• Hokwan bɛn na ɛwɔ hɔ sɛ me mma afoforo, anaa daakye mma, benya yare yi afi awo mu?
• Asoɛe ne mmoa akuw bɛn na yebetumi akɔ wɔn nkyɛn akɔhwehwɛ mmoa wɔ tebea yi ho?

Momma yɛnkae saa nsɛntitiriw yi (Take-Home Message) .

• Christianson Syndrome yɛ awosu mu yare a ɛntaa nsi koraa .
• Eyi ka ntini ahorow no titiriw, na ɛma ɛyɛ den sɛ wɔbɛnantew na wɔakasa .
• Wɔtaa hu adwene mu dɛmdi .
• Saa tebea yi ka mmarimaa (X-linked) kɛse .
• Ɛwom sɛ wonni aduru pɔtee biara a wɔde sa eyi de, nanso ayaresa ahorow wɔ hɔ a ebetumi asiw yare no ho sɛnkyerɛnne ahorow so na ama asetra atu mpɔn.

Sɛ wo anaa wo ba wɔ saa sɛnkyerɛnne yi bi a, ade a eye sen biara a ɛsɛ sɛ woyɛ ne sɛ woremmɔ hu, na mmom wobɛhwehwɛ aduruyɛfo afotu ntɛm ara sɛnea wubetumi. Kae sɛ ɛnyɛ wo nkutoo na wowɔ saa akwantu yi mu, na mmoa a wobɛsrɛ na wɔabɔ wo amanneɛ no bɛboa wo ma woagyina tebea yi ano yiye.

` Christianson Syndrome, Awosu mu Yare, Ntini, X-linked, Adwene mu Mmofra, Akisikuru, Nkɔso a Ɛkyɛ