So wo ba no wɔ saa sɛnkyerɛnne ahorow yi? Momma yɛnka Phelan-McDermid Syndrome ho asɛm

So woate Phelan-McDermid Syndrome ho asɛm pɛn? Ebia wontee saa din yi ho asɛm, efisɛ ɛyɛ awosu mu tebea a ɛntaa nsi. Saa tebea yi betumi de akwahosan ho haw ahorow aba, adwene mu nkɔso akyɛ, ne nneyɛe mu nsakrae, titiriw wɔ mmofra nkumaa mu. Enti, ɛnnɛ yɛbɛka ho asɛm wɔ ɔkwan a ɛyɛ mmerɛw so a wubetumi ate ase. Mma ɛnhaw wo, ɛho hia paa sɛ wubehu saa nsɛm yi.

Dɛn ne Phelan-McDermid Yare no?

Sɛ yɛbɛka no tiawa a, Phelan-McDermid yare no yɛ awosu mu yare a ebetumi de ɔhaw ahorow aba abofra nipadua, ne nyansa, ne ne nneyɛe mu. Nhwɛsoɔ:

• Adidi a ɛyɛ den.
• Ntini mu mmerɛwyɛ.
• Ɔkasa a ɛkyɛ ne nkɔso mu nsɛntitiriw afoforo.
• Mmofra binom wɔ tebea horow te sɛ Autism Spectrum Disorder.
• Ɛtɔ mmere bi mpo a tebea horow te sɛ akisikuru betumi aba.

Edin foforo bi wɔ hɔ a wɔde frɛ eyi, a ɛne ``22q13.3 deletion syndrome.'' Ɛwom sɛ ebia edin no bɛyɛ te sɛ nea ɛyɛ den kakra de, nanso momma yɛnka ɛno nso ho asɛm.

Tebea yi ho yɛ na dɛn?

Nokwarem no, tebea a wɔfrɛ no Phelan-McDermid syndrome yi ho yɛ na koraa . Sɛnea nyansahufo kyerɛ no, ɛka mmofra bɛyɛ baanu kosi du wɔ mpem ɔha biara mu. Nanso esiane sɛ ɛyɛ den kakra sɛ wobehu yare no nti, ebetumi aba sɛ mmofra pii na wɔwɔ saa tebea yi sen sɛnea wɔbɔ amanneɛ. Mmofra 2200 kosi 2500 pɛ na wɔahu sɛ wɔwɔ bi wɔ wiase nyinaa. Enti wubetumi asusuw sɛnea eyi ho yɛ na no ho.

Abusuabɔ bɛn na ɛda Phelan-McDermid yare ne autism ntam?

Eyi yɛ ɔhaw a nnipa pii wɔ. Wɔahu sɛ mmofra pii a wɔwɔ Phelan-McDermid yare no wɔ autism spectrum disorder . Nyansahufo bu akontaa sɛ mmofra a wɔwɔ autism no mu bɛyɛ 1% nso betumi anya Phelan-McDermid syndrome. Eyi kyerɛ sɛ abusuabɔ bi wɔ abien no ntam.

Dɛn nti na Phelan-McDermid yare no ba?

Okay, afei momma yɛnhwɛ nea ɛde eyi ba. Eyi fi nsakrae a ɛba nkwaadɔm mu . Chromosomes yɛ nneɛma nketenkete a ɛwɔ yɛn nkwammoaa mu. Eyinom mu no, yɛn awosu mu nkwaadɔm wɔ. Awosu mu nkwaadɔm te sɛ akwankyerɛ ahorow a ɛkyerɛ biribiara fi sɛnea ɛsɛ sɛ yɛn nipadua yɛ adwuma, kosi yɛn tenten, yɛn aniwa kɔla, ne nyarewa a yebetumi anya so.

Mpɛn pii no, onipa nkwammoaa biara wɔ nkwaboaa abien abien 23, na ne nyinaa yɛ nkwaboaa 46. Abofra a ɔwɔ Phelan-McDermid syndrome no wɔ chromosome 22 ketewaa bi a enni hɔ, anaasɛ "wɔapopa." Ɛno nti na wɔsan frɛ no `22q13.3 deletion syndrome.'

Mpɛn pii no, ɛnyɛ awofo na wonya saa tebea yi fi awo mu. Saa chromosome asinasin bi a ɛyera yi si kwa, kyerɛ sɛ, bere a wɔayɛ nkesua anaa mmadwoa nkwammoaa, anaasɛ bere a awotwaa bi renyin no. Nanso, wɔ nsɛm bi a ɛntaa nsi mu no, wobetumi anya afi ɔwofo bi hɔ. Sɛ ɛba saa a, ɛna anaa agya a ɔwɔ saa tebea yi wɔ hokwan bɛyɛ 50% sɛ wɔn ba no benya tebea no afi awo mu.

Dɛn ne tebea yi ho sɛnkyerɛnne?

Phelan-McDermid yare no ho sɛnkyerɛnne betumi ayɛ soronko kɛse wɔ onipa biara mu. Nnipa binom nnya yare no ho sɛnkyerɛnne kakraa bi, ebinom nso wɔ pii. Nsɛnkyerɛnne bi da adi wɔ awo mu, na afoforo nso da adi wɔ nkokoaa anaa mmofraase. Saa sɛnkyerɛnne ahorow yi betumi ayɛ honam fam, nneyɛe, adwene mu, anaa eyinom nyinaa a wɔaka abom.

Ebia wo ba no benya yare no ho sɛnkyerɛnne te sɛ eyinom:

• Nkɔso a ɛkyɛ : Nneɛma te sɛ nea wɔrenhuruhuruw, sɛ wɔntra ase, wɔnantew. Susuw ho hwɛ, nkokoaa binom fi ase roll over wɔ asram 6 mu, ebinom tena ase wɔ asram 9 mu. Nanso abofra a ɔwɔ saa tebea yi betumi agye bere kakra ansa na wayɛ saa nneɛma yi.
• Ɛyaw a wotumi gyina ano a ɛkɔ soro : Eyi kyerɛ sɛ wonte ɛyaw nka kɛse te sɛ afoforo.
• Ntini mu mmerɛwyɛ (hypotonia) : Ebia nipadua no bɛte nka sɛ ayɛ mmerɛw na ayɛ mmerɛw.
• Ɔkasa mu haw : Ɔkasa a ɛkyɛ anaasɛ ontumi nkasa.
• Dae mu haw : Ɛyɛ den sɛ obi bɛda, te sɛ nea ɔtaa sɔre.
• Fifiri a ɛba fam sen sɛnea ɛte daa : Eyi betumi ama nipadua no ayɛ hyew ntɛmntɛm na nsu atɔ nipadua no mu.
• Ɛyɛ den sɛ wobɛdidi anaa wobɛmene .
• Digestive system haw : Akisikuru a ɛtaa ba, ɔfe, ne komayare (gastroesophageal reflux disease).

Nnipa pii a wɔwɔ Phelan-McDermid syndrome nso wɔ autism spectrum disorder, enti wobetumi nso anya suban ho sɛnkyerɛnne te sɛ:

• Aniwa mu a wobɛhwɛ no yɛ mmerɛwyɛ .
• Ehu ne ehu a wɔte nka wɔ asetra mu tebea horow mu .
• Anigye a ɔwɔ wɔ nneɛma a ɛnyɛ aduan a wɔwe ho (e.g. agode, ntade).
• Hyperssensitivity to touch : Sɛ obi de ne nsa ka wo a, wo ho nyɛ wo dɛ.

Yebetumi ahu nneɛma titiriw bi nso wɔ nnipa a wɔwɔ saa tebea yi honam ani hwɛbea mu:

• Aniwa a akɔ fam.
• Aniwa a ɛrehwe ase (ptosis).
• Aso a ɛsõ anaasɛ ɛpue kɔ anim.
• Ebia ɛbɛyɛ te sɛ nea nansoaa a ɛto so abien ne abiɛsa no afrafra (syndactyly).
• Nsa anaa anan akɛse a ntini wom a wubenya.
• Ti no yɛ tenten na ɛyɛ teateaa wɔ ne nsusuwii mu.
• Abɔkɔ no yɛ nea ɛyɛ nsensanee.
• Nanan nnadewa nketenkete anaa nea ɛnteɛ.

Ɛtɔ mmere bi a, komayare a wonya fi awo mu ne asaabo mu haw ahorow ka tebea yi ho.Ɛntaa mma koraa sɛ mmofra yi betumi anya kotoku a nsu ahyɛ mu ma (arachnoid cysts) wɔ wɔn amemene mu. Eyinom betumi ama nhyɛso akɔ soro wɔ ti no mu, na ama obi ho atɔ no, osu, ne ti ayɛ no yaw, na wanya akisikuru.

Ɔkwan bɛn so na wohu yare yi?

Esiane sɛ ɛtɔ mmere bi a Phelan-McDermid yare no ho sɛnkyerɛnne yɛ anifere nti, ebetumi ayɛ den sɛ wobehu. Ebia ɛho behia sɛ wo ba no yɛ nhwehwɛmu mpɛn pii ansa na wɔahu no pɛpɛɛpɛ. Ebia oduruyɛfo no bɛyɛ nneɛma te sɛ:

• Abofra no nipadua mu nhwehwɛmu .
• Abofra no aduruyɛ ho abakɔsɛm a wobebisa a ɛfa sɛnkyerɛnne ahorow ne nkɔso a ɛkyɛ ho.
• Bisa abusua aduruyɛ ho abakɔsɛm na hwɛ sɛ ebia abusua no mu obi anya saa tebea yi anaa.
• Bisa sɛ wɔnyɛ awosu mu nhwehwɛmu . Mpɛn pii no, eyi hwehwɛ sɛ wogye mogya ketewaa bi. Wobetumi de eyi adi dwuma de ahwɛ sɛ ebia chromosome asinasin a yɛreka ho asɛm no nni hɔ anaa.

Wɔ tebea horow a ɛntaa nsi koraa mu no, ebia ɛnyɛ chromosome bi a ɛyera na ɛde tebea yi ba. Mmom no, ebia nsakrae a ɛba awosu mu abɔde bi a wɔfrɛ no `SHANK3` mu na ɛde ba. Sɛ wɔanhu chromosome deletion biara a, wo duruyɛfo nso betumi ahyɛ nyansa sɛ wɔnyɛ saa awosu mu abɔde yi mu nhwehwɛmu.

Sɛ nhwehwɛmu ahorow no si tebea a ɛne `22q13.3 deletion syndrome` no so dua a, oduruyɛfo no betumi ahyɛ nyansa sɛ wɔnyɛ nhwehwɛmu afoforo pii:

• Awofo baanu no nyinaa awosu mu nhwehwɛmu : Hwɛ sɛ ebia eyi yɛ biribi a wonya fii awo mu anaasɛ ɛbae kwa.
• MRI (Magnetic Resonance Imaging) anaa CT (Computed Tomography) scan a wɔde hwɛ abofra no amemene: Sɛnea ɛbɛyɛ a wobehu sɛ ebia arachnoid cyst ho sɛnkyerɛnne bi wɔ hɔ anaa.
• Kidney ultrasound : Sɛnea ɛbɛyɛ a wobɛhwɛ sɛ asaabo mu sintɔ bi wɔ hɔ anaa.
• Echocardiogram : Sɛnea ɛbɛyɛ a wobɛhwɛ sɛ koma no nyɛ adwuma yiye anaa.
• Aso ho sɔhwɛ.
• Aniwa mu nhwehwɛmu a ɛkɔ akyiri.
• Nna ho adesua.

So aduru bi wɔ hɔ a edi mũ ma eyi?

In fact, there is currently no cure for Phelan-McDermid syndrome. Botae titiriw a ɛwɔ ayaresa mu ne sɛ wobedi abofra no yare no ho sɛnkyerɛnne so, aboa no ma wayɛ adwuma yiye sɛnea obetumi, na asiw ɔhaw biara a ebetumi aba no ano.

Ebia nnuruyɛfo atitiriw ahorow bɛka wo ba hwɛ kuw no ho, a nea ɛka ho ne:

• Koma ho ɔyaresafo
• Yafunu mu yafunu ho ɔyaresafo
• Nephrologist ho ɔyaresafo
• Ntini mu yare ho ɔbenfo
• Occupational therapist: Obi a ɔboa nkurɔfo ma wɔyɛ da biara da nnwuma te sɛ adidi ne akyerɛw.
• Nnompe ne nkwaa ho ɔbenfo (nnompe ne nkwaa ho ɔbenfo) .
• Apɔw-mu-teɛteɛ ho ɔbenfo: Obi a ɔboa ma nipadua no akwaa a aka no mu yɛ den.
• Ɔkasa/kasa mu ɔyare ho ɔbenfo
• Nkwammoaa mu nkwaadɔm ho ɔbenfo

Kae sɛ, saa nnuruyɛfo atitiriw yi nyinaa reyɛ adwuma abom de ɔhwɛ a eye sen biara ama wo ba no.

So wobetumi asiw tebea yi ano?

Sɛ wohu sɛ obi anya yare no wie a, mprempren ɔkwan biara nni hɔ a wɔbɛfa so asiesie awosu mu nsakrae no. Nanso, wɔ tebea a ɛntaa nsi a awofo no mu biako nso wɔ tebea no mu no, mmere bi wɔ hɔ a wobetumi de IVF mfiridwuma anaa nhwehwɛmu a wɔyɛ ansa na wɔawo no adi dwuma de asiw mmofra a wɔbɛba daakye no ano.

Sɛ wo anaa w’abusua mu obi wɔ saa tebea yi a, ɛho hia yiye sɛ wo ne oduruyɛfo anaa awosu ho ɔfotufo kasa . Wobetumi akyerɛkyerɛ sɛnea ɛda adi sɛ wo mma benya tebea yi afi awo mu mu akyerɛ wo.

Sɛ me ba no wɔ saa tebea yi a, daakye bɛyɛ dɛn?

Eyi nyɛ ade koro wɔ abofra biara fam. Egyina dɛmdi ko a abofra no wɔ ne sɛnea emu yɛ den no so.

Nea efi tebea yi mu ba no ntaa nyɛ nea ɛde nkwa to asiane mu. Nanso, ebia nnipa pii a wɔwɔ saa tebea yi behia ayaresa a wɔde ma wɔn nkwa nna nyinaa ne asetra mu mmoa a ɛkɔ so. Enti, ɔdɔ, ntease, ne mmoa a abusua mufo de ma no ho hia mmofra yi paa.

Wobɛyɛ dɛn ahwɛ abofra a ɔte sɛ eyi?

Ɛho hia sɛ wode wo ba kɔ oduruyɛfo titiriw biara a wobɛkɔ akɔhwɛ no na ama ne tumi atu mpɔn. Esiane sɛ ebia wo ba no fifiri so tew nti, hu nea edidi so yi:

• Kwati ɔhyew a ɛboro so .
• Ma abofra no nsu pii ma ɔnom (mma ne nsuo nnya).
• Bɔ ho ban fi owia hann tẽẽ ho .

Esiane sɛ nnipa pii a wɔwɔ Phelan-McDermid yare no tumi gyina ɛyaw ano kɛse na ɛyɛ den sɛ wɔbɛka wɔn haw no ho asɛm nti, hwɛ yiye hwehwɛ sɛnkyerɛnne ahorow a ɛkyerɛ sɛ wo ba no te ɛyaw . Sɛ wuhu eyinom mu bi a, frɛ wo duruyɛfo. Wobetumi aboa wo ma woahu sɛ wo ba no yafunu mu yɛ no yaw anaa biribi foforo. Ɛyaw ho sɛnkyerɛnne betumi ayɛ:

• Sɛ́ wobɛyɛ komm sen sɛnea ɔtaa yɛ, a wonyɛ obi a ɔne afoforo bɔ kɛse.
• Ahome a wɔhome ntɛmntɛm sen sɛnea ɛte daa.
• Su anaasɛ obi a ne ho nyɛ no dɛ sen sɛnea ɔtaa yɛ.
• Mpa anaa nneɛma a ɛbɛn a wobɛkura mu denneennen.
• Nipadua, nsa, ne nan a wɔbɛma ayɛ den na enhinhim.
• Anim a ɛyɛ yaw (e.g., aniwa a wobɛto mu denneennen, anofafa a wobɛbɔ).
• Anwiinwii anaa nteɛteɛm.

Dɛn bio na wubetumi abisa oduruyɛfo no?

Sɛ wo ba wɔ Phelan-McDermid syndrome a, wubetumi abisa oduruyɛfo no nsɛm yi:

• So saa nkwaboaa a wɔpopa yi fi awo mu, anaasɛ ɛbae ara kwa?
• So me ba no wɔ ɔhaw ahorow te sɛ koma, asaabo anaa amemene mu akisikuru?
• Me ba no adwene mu dɛmdi no ka wɔn kɛse dɛn?
• Nnuruyɛfo atitiriw bɛn na ɛsɛ sɛ me ba kɔ wɔn nkyɛn? Mpɛn dodoɔ sɛn?
• So mmoa akuw bi wɔ hɔ a wobetumi aboa yɛn ma yɛatena ase wɔ tebea yi mu?
• So wokamfo awosu ho afotu kyerɛ?
• So ɛsɛ sɛ yɛn abusua no mufo a aka no yɛ awosu mu nhwehwɛmu?

Awiei koraa no, ɛsɛ sɛ meka sɛ...

Phelan-McDermid Syndrome yɛ awosu mu tebea a ɛntaa nsi. Ebetumi ama ɔkasa ne nkɔso akyɛ, ne autism spectrum disorder nso. Sɛ wɔahu sɛ obi a ɔwɔ w’abusua mu anya saa chromosomal deletion syndrome yi a, mma wo ho nnyɛ wo hu . Nnuruyɛfo kuw bi betumi aboa wo ne wo ba no. Botae atitiriw a ɛwɔ ha ne sɛ wobɛma wo ba no dwumadi atu mpɔn, asiw nsɛnnennen a ebetumi aba ano, na sɛ ɛho hia a, wode awosu ho afotu ama no. Ɛnyɛ wo nko ara , na nnipa pii wɔ hɔ a wobetumi aboa wo wɔ akwantu yi mu.

` Phelan-McDermid Yare, Phelan-McDermid Yare, Awosu mu Yare, Chromosome, Autism, Nkɔso a Ɛkyɛ, SHANK3