I-Angelman Syndrome

I-Angelman syndrome yisimo esibangelwa yishintsho e-jini, elibizwa ngokuthi yishintsho le-genetic. I-Angelman syndrome ibangela ukulibaziseka ekukhuleni, izinkinga zokukhuluma nokuqondana, ukukhubazeka kwengqondo, futhi, ngezinye izikhathi, ukuhlinzwa. Abantu abaningi abane-Angelman syndrome bayayigcina imizwa yabo yokuhleka nokuhleka. Bavame ukuba nokuthokozela futhi kulula ukubavusa. Ukulibaziseka ekukhuleni, okubizwa ngokuthi ukulibaziseka kwezinto zokuthuthukiswa, kuqala phakathi nezinyanga eziyi-6 kuya kweziyi-12 ubudala. Ukulibaziseka kuvame ukuba yizimpawu zokuqala ze-Angelman syndrome. Ukuhlinzwa kungase kuqale phakathi neminyaka eyi-2 kuya kweyi-3 ubudala. Abantu abane-Angelman syndrome bavame ukuphila isikhathi eside esijwayelekile. Kodwa-ke lesi simo asinakuphiliswa. Ukwelashwa kugxile ekuphatheni izinkinga zezokwelapha, ubuthongo nezinto zokuthuthukiswa.

Izimpawu ze-Angelman syndrome zihlanganisa: Ukulibaziseka ekuthuthukeni, okuhlanganisa ukungakhuzi noma ukungakhulumi ngezinyanga eziyi-6 kuya kweziyi-12. Ukuqina kwengqondo, okubizwa nangokuthi ukukhubazeka kobuhlakani. Ukungaqali noma ukukhuluma kancane. Ubunzima bokuhamba, ukuhamba noma ukulinganisela. Ukuhleka nokuqakaza njalo futhi kubonakala kujabule. Ukuba lula ukuvusa. Ubunzima bokuphuza noma ukudla. Ubunzima bokuya ebuthongweni nokulala. Abantu abane-Angelman syndrome bangaba nayo futhi: Ukubamba, okuqala phakathi kweminyaka emi-2 nesi-3. Ukukhahlela noma ukuhamba okuqhaqhazayo. Ubuncane besikhulu sekhanda ngeminyaka emi-2. Ukudonsa olulimi. Uboya, isikhumba nemihlobiso ekhanyayo. Izenzo ezingavamile, njengokuphephetha izandla nokuphakamisa izandla ngenkathi uhamba. Amehlo ahlanganisiwe, abizwa nangokuthi istrabismus. Umgogodla ogobile, obizwa nangokuthi i-scoliosis. Abaningi abantwana abane-Angelman syndrome ababonisi izimpawu lapho bezalwa. Izimpawu zokuqala ze-Angelman syndrome zivame ukuba yizinkinga zokuthuthuka. Lokhu kuhlanganisa ukungakhuzi noma ukungakhulumi phakathi kwezinyanga eziyi-6 neziyi-12. Uma ingane yakho ibonakala inezinkinga zokuthuthuka noma uma ingane yakho inezinye izimpawu ze-Angelman syndrome, yenza i-aphoyintimenti nodokotela wezingane yakho.

Izingane eziningi ezinenguquko ye-Angelman azibonisi izimpawu lapho zizalwa. Izimpawu zokuqala zenguquko ye-Angelman zivame ukuba yokulibaziseka kwezinto zokuthuthuka. Lokhu kuhlanganisa ukungakhuza noma ukungakhulumi phakathi nezinyanga eziyisithupha kuya kweziyishumi nambili.

Uma ingane yakho ibonakala inokulibaziseka kwezinto zokuthuthuka noma uma ingane yakho inezinye izimpawu zenguquko ye-Angelman, yenza i-aphoyintimenti nodokotela wezingane yakho.

I-Angelman syndrome ibangelwa yizinguquko ezinjini, ebizwa ngokuthi inguquko yezakhiwo. Ngokuvamile ibangelwa yizinguquko ezinjini ekhromozomini 15 elibizwa nge ubiquitin protein ligase E3A (UBE3A) gene.\n\nUthola ama-gene amabili kubazali bakho. Enye ikhophi ivela kunina, ebizwa ngokuthi ikhophi yomzali wesifazane. Esinye sivela kuyihlo, ebizwa ngokuthi ikhophi yomzali owesilisa.\n\nAmakhemikhali akho avame ukusebenzisa ulwazi oluvela kokubili. Kodwa kubunye obuncane be-gene, njenge-UBE3A gene, ikhophi evela kunina kuphela elisebenza.\n\Ngokuvamile, ikhophi yomzali wesifazane ye-UBE3A gene iyasiza ukuthuthukisa ubuchopho. I-Angelman syndrome kwenzeka lapho ingxenye yekhophi yomzali wesifazane ilahlekile noma yonakele. Ngakho-ke ubuchopho abukwazi ukuthola ulwazi oludingayo ukuze luthuthukise futhi luqondise inkulumo nokuhamba.\n\nNgokungavamile, i-Angelman syndrome ibangelwa uma ama-kophi amabili omzali owesilisa e-gene edluliselwa esikhundleni sokuba kube nokukopisha okukodwa kwabazali ngabanye.

I-Angelman syndrome ingxaki enqabile. Abaphandi bavame ukungazi ukuthi yini ebangela ukuguquka kwe-genetic okubangela leyo gciwane. Abantu abaningi abane-Angelman syndrome abanawo umlando wemindeni. Kodwa ngezinye izikhathi i-Angelman syndrome ingadluliselwa kubazali. Umlando womndeni wesifo ungandisa ingozi yengane yokuthola i-Angelman syndrome.

Izinkinga ezihlobene ne-Angelman syndrome zihlanganisa:

• Ubunzima bokudla. Ubunzima bokuphuza kanye nokugwinya ndawonye kungabangela izinkinga zokudla kubantwana abasebancane. Uchwepheshe wezempilo yengane yakho angase aphakamise ifomula enama-calories aphezulu ukusiza ingane yakho ukuba izuze isisindo.
• Ukusebenza ngokweqile. Abantwana abane-Angelman syndrome bavame ukuhamba ngokushesha kusuka emsebenzini owodwa baye kwenye, bane-attention span emfushane, futhi bagcina izandla zabo noma umdlalo emlonyeni wabo. Ukusebenza ngokweqile kuvame ukuncipha ngokukhula. Imithi ivame ukungadingeki.
• Izinkinga zokulala. Abantu abane-Angelman syndrome bavame ukuba nezinguquko emaphethini abo okulala-nokuvuka. Bangadinga ukulala okuncane kunabantu abaningi. Izinkinga zokulala zingase zibe ngcono ngokukhula. Imithi kanye ne-behavior therapy zingasiza.
• Ukubhoqoqa komgogodla, okuthiwa i-scoliosis. Abanye abantu abane-Angelman syndrome bathola ukubhoqoqa komgogodla eceleni kwesinye isikhathi ngokuhamba kwesikhathi.
• Ukukhuluphala. Ukukhuluphala kuvamile kubantwana abadala abane-Angelman syndrome.

Ngokwengaphandle, i-Angelman syndrome ingadluliselwa kubantwana abathintekayo ngabazali abathintekayo ngenxa yeziqu zamathalente eziye zahlolwa. Uma ukhathazekile ngomlando womndeni we-Angelman syndrome noma uma unembeleko enaleli bhubhane, cela usizo lochwepheshe wezokwelapha. Uchwepheshe wakho wezempilo noma umeluleki wezakhiwo angakusiza ukuhlela ukukhulelwa kwesikhathi esizayo.

Uchwepheshe wezempilo yengane yakho angase athathe umbono wokuthi ingane yakho inenkinga ye-Angelman uma ingane yakho inokulimala ekuthuthukiseni, ikhuluma kancane noma ayikhulumi nhlobo, noma inezinye izimpawu. Izimpawu zingafaka ukubamba, inkinga yokunyakaza nokuqondana noma ubuncane bekhanda.

I-Angelman syndrome ingaba nzima ukuyihluza ngoba ihlanganyela izimpawu nezinye izinhlobo ze-syndromes.

Uvivinyo lwegazi cishe lungaluhlaza njalo i-Angelman syndrome. Loluvivinyo lwe-gene lungathola izinguquko emakromosomu engane ezibonisa i-Angelman syndrome.

Ukuhlanganiswa kwezivivinyo ze-gene kungabonisa izinguquko ezihlotshaniswa ne-Angelman syndrome. Lezi zihloko zingahlola:

• Iphethini ye-DNA yabazali. Lovivinyo, oluaziwa ngokuthi yi-DNA methylation test, luhlola ezintathu kwezine zinguquko ze-gene ezaziwayo ezibangela i-Angelman syndrome.
• Ukwehluleka kwamakromosome. I-chromosomal microarray (CMA) ingabonisa uma izingxenye zamakromosome zingekho.
• Iinguquko ze-gene. Ngokungavamile, i-Angelman syndrome kwenzeka lapho ikhophi yomzali wamama ye-UBE3A gene isebenza kodwa ishintshiwe. Uma imiphumela yokuhlola i-DNA methylation iyisivamile, uchwepheshe wezempilo yengane yakho angase ayalele ukuhlolwa kwe-UBE3A gene sequencing ukuze afune ushintsho lomama.

Ngenxa yokuxhumana phakathi kwe-Angelman syndrome nokubamba, uchwepheshe wezempilo angase futhi enze i-electroencephalogram (EEG). I-EEG iqapha umsebenzi wogesi wobuchopho.