So wo babea no wɔ nkɔso ho haw? So yɛbɛka Rett Syndrome ho asɛm?

Ebia wo ba kumaa, titiriw abeawa bi, ahu nkɔso bi a ɛkyɛ anaasɛ ɛyɛ den sɛ ɔbɛyɛ nneɛma a na ɔyɛ kan no. Fa no sɛ, abofra bi a na ɔreyɛ yiye bɛyɛ asram asia no gyae nneɛma foforo sua mpofirim na ne werɛ fi nneɛma a na wasua kan no mpo. Ɛyɛ ade a ɛfata koraa sɛ ɛna anaa agya bɛte ehu ne dadwen kɛse nka bere a ohu biribi a ɛte sɛɛ no. Ɛnnɛ yɛrebɛka tebea bi a ɛntaa nsi koraa, nanso ɛho hia sɛ yehu, a ɛka mmeawa titiriw ho asɛm. Eyi ne nea yɛfrɛ no Rett Syndrome .

Dɛn ne Rett Syndrome? Sɛ yɛbɛka no tiawa a...

Sɛ yɛbɛka no tiawa a, Rett Syndrome yɛ awosu ne ntini mu yare a ɛntaa nsi. Ɛka mmeawa titiriw. Ɛnam awosu mu nsakraeɛ bi a ɛwɔ awosuo mu abɔdeɛ bi a ɛwɔ yɛn nipadua mu, titire awosuo mu nkwaadɔm bi a wɔfrɛ no `MECP2`. Saa `MECP2` awosu mu abɔde yi di dwuma titiriw wɔ yɛn amemene no nkɔso ne nsɛm a ɛsesa wɔ ntini mu nkwammoaa ntam, kyerɛ sɛ, abusuabɔ a ɛda ntini mu nkwammoaa ntam (synapse) . Enti, sɛ nsakrae ba saa awosu yi mu a, ɛka abofra no amemene nyin.

Wɔ saa tebea yi mu no, abofra asetra mu asram kakraa a edi kan, mpɛn pii no kosi bɛyɛ asram 6 no, nyin te sɛ mmofra afoforo ara pɛ. Wɔyɛ nneɛma a ɛfata wɔn mfe, te sɛ wɔn a wɔwea, serew, ne wɔn akwaa a wɔkeka. Nanso, bɛyɛ asram 6 akyi no, abofra no fi ase hwere ahokokwaw ne tumi a na wasua kan no. Sɛ nhwɛso no, tumi a wotumi de ne nsa abien nyinaa kura agode bi mu, wosow wɔn nsa kyerɛ wɔn maame, na wɔka nsɛm no so tew. Saa sɛnkyerɛnne ahorow yi da adi wɔ mmere ahorow mu bere a abofra no nyin no. Nanso, ade biako a ɛsɛ sɛ yɛkae ne sɛ ɛwom sɛ saa sɛnkyerɛnne ahorow yi gyae sɛ ɛreyɛ kɛse (ɛkɔ so) bere kɔ so de, nanso ɛnyera koraa. Enti, mmofra yi hia ɔhwɛ ne mmoa soronko wɔ wɔn nkwa nna nyinaa mu.

Dɛn ne Rett Syndrome ho sɛnkyerɛnne ahorow?

Sɛnea yɛadi kan aka no, abofra betumi anyin sɛnea ɛsɛ kosi sɛ obedi bɛyɛ asram 6. Rett Syndrome ho sɛnkyerɛnne a edi kan ne nkɔso a ɛkyɛ . Eyi kyerɛ sɛ abofra no ka akyi wɔ nneɛma a ɛfata ne mfe a wadi mu, sɛ nhwɛso no, ɔwea bere a mmofra afoforo rewea, wɔrewosow wɔn nsa, anaa wɔafi ase kasa no.

Bere a abofra no nyin no, nkɔso a ɛkɔ akyi ho sɛnkyerɛnne ahorow a nea wɔasua no yera bio no da adi pefee.

Nsɛnkyerɛnne a ɛka abofra no ntini, ne kankyee, ne ne nneyɛe:

• Ɔhaw ahorow a ɛfa kari pɛ ne nhyehyɛe a wɔyɛ no pɛpɛɛpɛ ho bere a wɔnantew: Ɛyɛ den sɛ wubegyina hɔ na woanantew. Ebia ɛbɛhwe ase mpɛn pii.
• Ɔkasa a ɛyɛ den:Ɛbɛyɛ den sɛ wɔbɛka nsɛm na wɔada adwene adi. Mmofra binom mpo betumi ahwere tumi a wɔde kasa koraa.
• Ɛyɛ den sɛ ɔbɛmene anaa ɔbɛwe aduan: Eyi betumi ama abofra no rennya aduannuru a ɛho hia, ne mu duru so tew, na onnya aduan pa nni .
• Ntini a ɛyɛ mmerɛw anaasɛ ɛyɛ den (spasticity): a wontumi nni akwaa so yiye.
• Ɛyɛ den sɛ wobɛyɛ nneɛma a wunim no wɔ ahyɛde so (apraxia): Sɛ nhwɛso no, sɛ worentumi nyɛ saa bere a wɔka kyerɛ wo sɛ "wosow wo nsa," nanso ɛtɔ mmere bi a wubetumi awosow wo nsa bere a wogyina hɔ.
• Nsa a wɔde keka wɔn ho mpɛn pii: Nsa a wɔde keka wɔn ho mpɛn pii te sɛ nea wɔde piapia, piapia, ne nsam a wɔbɔ no yɛ yare yi su kɛse.

Nsɛnkyerɛnne afoforo:

• Dae ho haw: Ɔnda yiye anadwo, ɔtaa sɔre.
• Nnuan a wɔyam no mu haw ahorow: nneɛma te sɛ nsu a ɛsan kɔ nipadua no mu ne akisikuru .
• Adwene mu dɛmdi: Ebia adesua tumi so bɛtew.
• Ahomegye a wɔtaa yɛ ne abufuw.
• Scoliosis: Akyi berɛmo no kɔ nkyɛnkyɛn.
• Onyin nkakrankakra: Ebia nneɛma te sɛ tenten ne mu duru a ɛkɔ soro no bɛyɛ brɛoo asen mmofra afoforo.

Nsɛnkyerɛnne a ɛtɔ mmere bi a ebetumi de nkwa ato asiane mu no bi ne:

• Ɔhome a ɛyɛ den: Ɔhome a ɛnkɔ so daa, ɔhome a wokura mu, ne nea ɛkeka ho.
• Koma a ɛbɔ a ɛnteɛ.
• Akisikuru a ɛma obi ho kyere no.

So mmofra a wɔwɔ Rett Syndrome no wɔ anim yɛ soronko?

Mmofra a wɔwɔ Rett Syndrome no betumi anya ti ketewaa bi sɛ wɔde toto wɔn nipadua a aka ho a. Wɔfrɛ eyi microcephaly . Eyi betumi ama anim afã horow ada adi kakra. Nanso, anim afã pɔtee biara nni hɔ a ɛyɛ soronko wɔ saa ɔhaw yi ho, te sɛ "sɛnea anim no te."

Ɛtɔ mmere bi a Rett Syndrome ho sɛnkyerɛnne betumi ayɛ te sɛ nea ɛwɔ tebea foforo a wɔfrɛ no Angelman Syndrome mu no . Tebea abien no nyinaa wɔ nneɛma a ɛyɛ pɛ, te sɛ kasa ne nkitahodi mu nsɛnnennen, nkɔso a ɛkyɛ, akisikuru, ne nna mu haw. Nanso, Angelman Syndrome no wɔ anim afã horow pɔtee bi, te sɛ aniwa a emu dɔ, ano a ɛtrɛw, ne nsonsonoe akɛse a ɛda sẽ ntam. Rett Syndrome nni anim afã horow pɔtee yi.

Rett Syndrome no afã horow

Saa tebea yi fa akwan horow so bere a abofra nyin no. Wɔ ɔfã biara mu no, abofra no betumi ada yare no ho sɛnkyerɛnne ahorow adi. Nanso, ɛnyɛ mmofra nyinaa na wɔfa saa mmere yi nyinaa mu wɔ ɔkwan koro so. Sɛ nhwɛso no, ebia mmofra bi a wɔwɔ Rett Syndrome rentumi nnantew da.

Rett Syndrome Nkyɛmu:

1. Ɔfã I - Ɔfã a efi ase ntɛm: Eyi fi ase wɔ asram 6 kosi 18 ntam. Abofra no nkɔso brɛ ase. Sɛ nhwɛso no, ɔwea kyɛ, na tumi a ɔde hwɛ ɛna no tẽẽ no so tew. Abofra no ntini ntumi nyɛ den pii ( low muscle tone ), na ebetumi ayɛ den wɔ aduan a obenya ho.

2. Ɔfã II - Ɔfã a ɛkɔ so ntɛmntɛm: Eyi taa ba wɔ mfe 1 kosi 4 ntam. Ebia abofra no rentumi nkasa na ɔmfa wɔn nsa nni dwuma bio. Ebia wɔbɛtaa abɔ wɔn nsam. Mmofra binom nso betumi ada nneyɛe a ɛte sɛ mmofra a wɔwɔ Autism Spectrum Disorder de adi, te sɛ nnipa a wɔne wɔn ho wɔn ho di nkitaho ho anigye a wɔhwere.

3. Stage III - Plateau anaa bere tiaa mu stable stage: Eyi taa ba wɔ mfe 2 kosi 10 ntam. Nsɛnkyerɛnne a na emu yɛ den wɔ ɔfã a ɛto so abien no mu no bi, sɛ nhwɛso no, nkitahodi ho nimdeɛ ne nipadua mu ahoɔden a wɔde yɛ adwuma no betumi atu mpɔn kakra. Ebia wɔbɛkyerɛ anigye sɛ wɔbɛsan abɔ fekuw bio. Akisikuru taa ba wɔ saa bere yi mu.

4. Stage IV - Akyiri yi motor decline: Eyi betumi aba bere biara wɔ Stage III akyi. Ebia abofra no ntumi nantew ne ne ntini ahoɔden. Nanso, ɛsɛ sɛ abofra no nkitahodi ne nsusuwii ho nimdeɛ kɔ so wɔ hɔ wɔ saa bere yi mu.

Dɛn ne nneɛma a ɛde Rett Syndrome ba?

Rett Syndrome taa fi awosu mu nsakrae bi a ɛwɔ awosu mu abɔde bi a wɔfrɛ no `MECP2` mu. Sɛnea madi kan aka no, saa awosu mu abɔde yi kyerɛ sɛnea wɔyɛ protein bi a wɔfrɛ no `MECP2`. Saa protein yi boa ma nkitahodi (synapses) a ɛda ntini mu nkwammoaa ntam no kɔ so tra hɔ na ɛboa ma abofra no amemene yɛ adwuma yiye.

Nanso, ɛnyɛ Rett Syndrome nsɛm nyinaa na ɛne MECP2 awosu mu abɔde no wɔ abusuabɔ. Awosu mu nsakrae ahorow bi (sɛ nhwɛso no, deletions) anaa nsakrae ahorow a ɛwɔ awosu mu nkwaadɔm afoforo mu, te sɛ CDJK5 ne FOXG1 nso betumi ama Rett Syndrome a ɛnyɛ nea wɔtaa yɛ. Ɛtɔ mmere bi a, awosu mu nkwaadɔm a wonnya nhui betumi de saa sɛnkyerɛnne ahorow yi aba.

Nea ɛho hia ne sɛ saa awosu mu nsakrae yi taa ba ara kwa/wɔnhyɛ da . Ɛne sɛ, ɛnyɛ nea wɔtaa nya fi awofo hɔ mma mmofra. Enti ɛho nhia sɛ wote afobu nka dodo wɔ ho.

So mmarimaa nya Rett Syndrome?

Mpɛn pii no, mmeawa nkutoo na Rett Syndrome no ka wɔn. Nea enti a ɛte saa ne sɛ awosu mu nsakrae a ɛde ba no ba X chromosome no so. Sɛnea wunim no, ɔbea wɔ X chromosome abien (XX).

Esiane sɛ mmarimaa wɔ X chromosome biako ne Y chromosome biako (XY) nti, tebea yi ho yɛ na koraa. Sɛ abarimaa bi wɔ saa ɔkwan soronko yi wɔ ne X chromosome biako pɛ no so a, sɛnkyerɛnne no betumi ayɛ kɛse. Eyi betumi ama nyinsɛn no atu anaa owu mpo wɔ awo mu.

Nnuruyɛfo frɛ saa tebea yi wɔ mmarimaa mu ``MECP2-related severe neonatal encephalopathy.'' Saa tebea yi nso betumi ada sɛnkyerɛnne ahorow a ɛte sɛ Rett syndrome adi, te sɛ adwene mu dɛmdi, akisikuru, ne kankyee mu haw.

Nsɛnnennen a Ɛba wɔ Rett Syndrome mu

Abofra a ɔwɔ saa tebea yi wɔ asiane mu sɛ obenya nsɛnnennen a edidi so yi, na emu bi betumi de ne nkwa ato asiane mu:

• Aspiration pneumonia: Tebea a ɛma obi nya ahurututu mu yare a aduan anaa anonne a ɛkɔ ahurututu mu na ɛde ba.
• Akisikuru: Akisikuru a ɛtaa ba.
• Koma a entumi nyɛ adwuma yiye: Sɛ nhwɛso no, tebea horow te sɛ Long QT syndrome .
• Ahurututu anaa ɔhome mu haw ahorow.

Ɔkwan bɛn so na nnuruyɛfo hu Rett Syndrome?

Oduruyɛfo bi nam abofra no mu nhwehwɛmu ne nhwehwɛmu a ɛho hia a ɔyɛ so hu sɛ ɔwɔ Rett Syndrome . Sɛ́ ɛna no, ebia wubesusuw sɛ biribi asɛe bere a wo ba no ntumi nhyia nkɔso mu nsɛntitiriw wɔ ne mfe ho, titiriw wɔ afe a edi kan no mu. Ɛno ne bere a ɛsɛ sɛ wode wo ba kɔ mmofra oduruyɛfo anaa w’abusua oduruyɛfo nkyɛn.

Wo duruyɛfo bɛhwɛ wo ba no mu na wahwehwɛ yare no ho sɛnkyerɛnne ahorow. Afei, wɔbɛyɛ nhwehwɛmu de ayi tebea afoforo a ebia ɛwɔ sɛnkyerɛnne a ɛte saa ara no afi hɔ. Mpɛn pii no, wobetumi de awosu mu mogya mu nhwehwɛmu a ɛhwehwɛ nsakrae a ɛba MECP2 awosu mu nkwaadɔm mu no asi tebea no so dua. Saa awosu mu nhwehwɛmu yi nhwehwɛ sɛ wɔyɛ ahosiesie titiriw biara anaasɛ wɔtra ayaresabea.

Mpɛn pii no, wohu yare no bere a wɔadi asram 6 kosi 18, efisɛ eyi ne bere a yare no ho sɛnkyerɛnne fi ase.

Esiane sɛ Rett Syndrome yɛ tebea a ɛntaa nsi nti, ɛtɔ mmere bi a ebetumi ayɛ den sɛ wobehu yare no ntɛm ara. Ebetumi agye bere kakra ansa na nnuruyɛfo kuw no apow tebea afoforo nyinaa na wɔasi so dua sɛ eyi te saa. Ebetumi ayɛ abasamtu sɛ wobɛtwɛn mmuae, nanso sɛ wuhu yare no pefee a, ebetumi aboa nnuruyɛfo kuw no ma wɔasa wo ba no yare no ho sɛnkyerɛnne ahorow.

Ɔkwan bɛn so na wɔsa Rett Syndrome?

Ayaresa a wobetumi apaw no gyina abofra no yare no ho sɛnkyerɛnne pɔtee so. Sɛ nhwɛso no, wobetumi de nnuru ama akisikuru ne kankyee mu ɔhaw ahorow. Sɛ abofra no wɔ ɔhaw ahorow wɔ nipadua mu ahoɔden ne kasa ho nimdeɛ ho a, oduruyɛfo no betumi akamfo ayaresa ahorow te sɛ:

• Adwuma mu ayaresa: Ɛboa wɔ da biara da nnwuma mu na ɛma nsa dwumadi tu mpɔn.
• Apɔw-mu-teɛteɛ: Ɛboa wɔ nneɛma te sɛ nantew, kari pɛ, ne ntini a ɛhyɛ den mu.
• Ɔkasa mu ayaresa: Ɛboa ma ɔkasa ne nkitahodi tu mpɔn.

Wɔ mmofra a wɔadi mfe 2 ne akyi fam no, aduru bi a wɔfrɛ no Trofinetide ada nea ɛhyɛ bɔ adi wɔ nnuruyɛ mu sɔhwɛ ahorow mu . Ɛyɛ ayaresa a edi kan a U.S. Aduan ne Nnuru Dwumadibea (FDA) apene so titiriw ama Rett Syndrome . Ɛnyɛ aduru, nanso wobu no sɛ ɛyɛ aduru a ɛsakra yare. Ɛsɛ sɛ wo ne w’aduruyɛfo kuw no susuw ɔkwan yi ho na mobom si gyinae.

Nea ɛka ho no, ebia wo ba no benya so mfaso afi:

• Sɛ wɔhyɛ brace anaasɛ wɔyɛ no oprehyɛn de hwehwɛ scoliosis .
• Wɔtaa kɔhwɛ sɛ ebia koma no nyɛ adwuma yiye anaa.
• Aduan pa ho mmoa.
• Nhomasua nhyehyɛe titiriw a wɔyɛ wɔ sukuu mu.

Mprempren wonni aduru biara a wɔde sa Rett Syndrome . Nanso, wo ba no nnuruyɛfo betumi aboa ma wɔadi yare no ho sɛnkyerɛnne ahorow ho dwuma wɔ n’asetra nyinaa mu.

Bere bɛn na ɛsɛ sɛ mede me ba kɔ oduruyɛfo nkyɛn?

Sɛ wuhu sɛ wo ba no ntumi nnya nkɔso mu nsɛntitiriw a ɛfata ne mfe, titiriw wɔ asram 6 akyi a, kɔ oduruyɛfo nkyɛn ntɛm ara.

Sɛ wɔahu sɛ wo ba no anya Rett Syndrome , sɛ ɔwɔ ayaresa no mu nsunsuanso bɔne bi, anaasɛ onya sɛnkyerɛnne foforo anaasɛ sɛ sɛnkyerɛnne a ɛwɔ hɔ dedaw no mu yɛ den a, ka kyerɛ wo duruyɛfo.

Abofra a ɔwɔ Rett Syndrome nkwa nna yɛ dɛn?

Nnipa pii a wɔwɔ Rett Syndrome no tra ase yiye kosi wɔn mfe 40 ne akyi. Sɛ yare no ho sɛnkyerɛnne no mu nyɛ den a, ebia wo ba no bɛtra ase sɛnea ɛsɛ. Nanso, sɛ akwahosan ho nsɛnnennen ba a, wobetumi atew nkwa nna so.

Onipa a oye sen biara a wubebisa wo ba nkwa nna ho asɛm ne wɔn duruyɛfo. Obetumi ate wo ba no tebea pɔtee ase na wakyerɛkyerɛ mu akyerɛ wo.

Rett Syndrome Ho Nkɔmhyɛ

Rett Syndrome yɛ tebea a ɛma obi nya nkwa nna nyinaa. Ɛsono sɛnea sɛnkyerɛnne ahorow no ka onipa biara. Ebia wo ba no ankasa betumi adi ne kankyee so, nantew, na ɔne afoforo adi nkitaho. Nanso, wobehia sɛ wɔhwɛ wɔn awia ne anadwo wɔ wɔn nkwa nna a aka nyinaa mu.

Afei nso, ɛho behia sɛ wo ba no ne wɔn nnuruyɛfo kuw no hyia daa na ama wɔadi yare no ho sɛnkyerɛnne ahorow ho dwuma yiye na wɔasiw nsɛnnennen ano. Wɔ Rett Syndrome tebea horow bi mu no, nsɛnnennen betumi ama obi awu ntɛm.

Sɛ wuhu sɛ wo ba no wɔ ntini mu yare bi a ɛntaa nsi a, ebetumi ayɛ wo den. Ebia wobɛte dadwen ne awerɛhow nka sɛ wo ba no nnya nkɔso te sɛ mmofra afoforo. Ɛwom sɛ wo ba no nipadua behia bere ne ɔhwɛ pii bere a ɔrenyin no de, nanso nnyae anidaso. Nnuruyɛfo bɛka wo ho wɔ anammɔn biara a wobɛfa so de ɔhwɛ a wo ba no hia ama wo.

Nhwehwɛmufo renya ayaresa foforo a ebetumi aboa mmofra a wɔwɔ Rett Syndrome denam ayaresabea sɔhwɛ ahorow so . Sɛ wowɔ nsɛmmisa bi fa wo ba no adwene anaa ayaresa ho a, bisa wo duruyɛfo.

Nneɛma a ɛho hia sen biara a ɛsɛ sɛ wokae (Take-Home Message) .

Ɛyɛ ade a ɛfata sɛ wobɛte nka sɛ woayɛ basaa bere a wuhu sɛ wo ba wɔ Rett Syndrome . Nanso kae nneɛma yi:

• Ɛnyɛ wo nko ara: Awofo afoforo wɔ hɔ a wohyia tebea horow a ɛte saa ara. Nnuruyɛfo, ayaresa ho animdefo, ne akuw a wɔboa wo no ayɛ krado sɛ wɔbɛboa wo.
• Ɛho hia sɛ wuhu ntɛm: Sɛ wuhu sɛ wo ba no nyin akyɛ a, hwehwɛ aduruyɛfo afotu ntɛm ara.
• Ayaresa betumi adi yare no ho sɛnkyerɛnne ahorow ho dwuma: Ɛwom sɛ wonni aduru a edi mũ de, nanso ayaresa ne ayaresa ahorow betumi ama abofra no asetra atu mpɔn.
• Ɛsono abofra biara: Ɛsono yare no ho sɛnkyerɛnne ne nkɛntɛnso a enya wɔ onipa biara mu. Nnuruyɛfo bɛboa wo ma woayɛ ɔhwɛ nhyehyɛe a ɛfata wo ba no yiye.
• Kɔ so nya anidaso: Aduruyɛ ho nyansahu renya nkɔso na wɔreyɛ nhwehwɛmu foforo, enti ɛho hia sɛ wokɔ so nya adwempa.

Nea ehia paa ne sɛ wobɛma wo ba no anya ɔdɔ, ɔhwɛ, ne ayaresa a ɛfata.

` Rett Syndrome, awosu mu nyarewa, ntini mu nyarewa, mmofra nkɔso, MECP2 awosu mu nkwaadɔm, nkɔso a ɛkyɛ