Ubuthakathaka be-Angelman Syndrome? Izimpawu, Izimbangela, Nokwelapha

I-Angelman syndrome iyisimo esingavamile se-genetic esithinta ukuthuthukiswa kwesistimu yakho yezinzwa, sibangela ukukhubazeka kobuchopho nezingxaki zokunyakaza nokuqondana. Lesi simo senzeka uma kukhona inkinga nge-gene ethile ebizwa nge-UBE3A, edlala indima ebalulekile ekuthandweni kwamaseli e-brain.

Cishe abantu abangu-1 ku-12,000 kuya ku-20,000 bazalwa be-Angelman syndrome. Nakuba kuyisimo sokuphila konke esiletha izinselele ezihlukile, imindeni eminingi iyathola izindlela zokusiza abathandekayo babo baphile ukuphila okuhlangabezana nezidingo ngokusekelwa nokukhathalelwa okulungile.

Ziyini izimpawu ze-Angelman syndrome?

Izimpawu ze-Angelman syndrome zivame ukuqaleka zibonakala ngonyaka wokuqala wokuphila komntwana wakho, nakuba ezinye izimpawu zingase zingabonakali kuze kube kamuva ebuntwaneni. Lezi zimpawu zithinta indlela umntwana wakho athuthuka ngayo, anyakaze, futhi axhumane.

Nazi izimpawu ezivamile ongaziqaphela:

• Ukulibaziseka ekuhlaleni, ukuqhubeka, nokuhamba
• Ukukhuluma okuncane noma akukho, nakuba ukuqonda kuvame ukuba kuhle kunekhono lokukhuluma
• Ukuhleka okuvamile, okujabulisayo nokuqabula, ngezinye izikhathi ngaphandle kwesizathu esicacile
• Ukushaya izandla, ikakhulukazi uma kujabule
• Izingxaki zokuhamba, kufaka phakathi ukunyakaza okuqine noma okuqhumayo
• Ukuhlupheka ngezifo, okuthinta cishe abantu abangu-80% abanesimo
• Ubunzima bokuthola ubuthongo nokudinga ubuthongo obuncane kunokujwayelekile
• Ukuthandana namanzi nokuthakazelwa izinto ezinqunu njengeplastiki

Izimpawu ezingavamile zingafaka isikhumba esincane, ulimi olukhulu, ukugobhoza, nezingxaki zokudla ebuntwaneni. Abanye abantwana bathuthukisa i-scoliosis noma banezinkinga zamehlo njengezinto eziqhelelene.

Okubalulekile ukukhumbula ukuthi umuntu ngamunye one-Angelman syndrome uhlukile. Nakuba lezi zimpawu zivamile, umntwana wakho angase abe nezinye kunezinye, futhi ubukhulu bungase buhluke kakhulu kumuntu ngamunye.

Yini ebangela i-Angelman syndrome?

I-Angelman syndrome iyenzeka ngenxa yezinkinga nge-UBE3A gene, etholakala ku-chromosome 15. Le gene kufanele yenze i-protein esiza amaseli e-brain ukuba asebenze kahle, ikakhulukazi ezindaweni eziphethe ukufunda, ukukhuluma, nokunyakaza.

Lesi simo singase senzeke ngezindlela eziningana ezahlukene:

• Ukucisha kwe-chromosome 15 yomzali (kubangela cishe ama-70% ezimo)
• Ukuguqulwa kwe-UBE3A gene ngokwayo (cishe ama-11% ezimo)
• Izingxaki zokuthinta i-genetic, lapho i-gene ivaliwe ngokungalungile (cishe ama-3% ezimo)
• I-Paternal uniparental disomy, lapho kokubili ama-chromosome 15 evela kubaba esikhundleni sokuba enye ivela kumzali ngamunye (cishe ama-7% ezimo)

Ezimweni eziningi, i-Angelman syndrome iyenzeka ngokungahleliwe ngesikhathi sokwenziwa kwamaseli okuzala noma ekuqaleni kokukhula komntwana. Lokhu kusho ukuthi ngokuvamile ayithathwa kubazali, futhi akukho lutho obungalwenza ngokuhlukile ukuyivimbela.

Kodwa-ke, ezimweni ezingavamile lapho kukhona ukulungiswa kabusha kwe-chromosome komunye umzali, kungase kube nethuba elikhulu kancane lokuba nomntwana omunye onesimo. Umqondisi wakho we-genetic angakusiza achaze isimo sakho esithile.

Kufanele ubone nini udokotela mayelana ne-Angelman syndrome?

Kufanele uxoxe nodokotela wakho wezingane uma uqaphela ukuthi umntwana wakho omncane noma omncane unelibazelika elikhulu ekufezeni izigaba zokuthuthuka. Izimpawu zokuqala ezidinga ukuvakashelwa kudokotela zifaka ukungahleli ngenyanga engu-12, ukungahambi ngenyanga engu-18, noma ukuba nokukhuluma okuncane kakhulu noma akukho ngeminyaka engu-2.

Ezinye izizathu ezibalulekile zokufuna ukunakekelwa kwezokwelapha zifaka ukuhlupheka ngezifo, izinkinga ezinzima zokulala, noma uma umntwana wakho ebonisa ukubambisana okuvamile kokulibala kokuthuthuka ngokuhleka okujabulisayo okuvamile nokushaya izandla. Ngezinye izikhathi abazali baqaphela ukuthi umntwana wabo ubonakala ekuqonda okuningi kunalokho angakwazi ukuveza, okuyisici esiphambili sesimo.

Ungalindi uma ukhathazekile ngokuthuthuka komntwana wakho. Izinsizakalo zokungenela kwasekuqaleni zingenza umehluko omkhulu ekusizeni umntwana wakho ukuba afinyelele ikhono lakhe, ngisho nangaphambi kokuba uthole ukuxilongwa okuqinisekile.

Ziyini izimbangela zengozi ze-Angelman syndrome?

Eziningi zezimo ze-Angelman syndrome zenzeka ngokungahleliwe, okusho ukuthi ngokuvamile azikho izimbangela zengozi ezithinta amathuba akho okuba nomntwana onesimo. I-syndrome ithonya zonke izigaba ngokulinganayo futhi iyenzeka kubafana namantombazane ngesilinganiso esifanayo.

Ubudala obukhulu bomzali awuyona imbangela yengozi ye-Angelman syndrome, ngokungafani nezinye izimo ze-genetic. Eningi yemindeni, ayikho imbali yomndeni yesimo, futhi abazali bane-chromosome ezijwayelekile.

Isisulu kuphela lapho ingozi ingase ibe phezulu khona uma komunye umzali ophethe ukulungiswa kabusha kwe-chromosome okuhlanganisa i-chromosome 15. Lokhu kuyinto engavamile kakhulu futhi ngokuvamile kuzotholakala kuphela ngokuhlolwa kwe-genetic ngemuva kokuba nomntwana one-Angelman syndrome.

Ziyini izinhlanganisela ezingase zenzeke ze-Angelman syndrome?

Nakuba i-Angelman syndrome iyisimo sokuphila konke, ukuqonda izinhlanganisela ezingase zenzeke kungakusiza ukuba ulungiselele futhi ufuna ukunakekelwa okulungile uma kudingeka. Eziningi zalezi zinkinga zingaphathwa kahle ngokusekelwa kwezokwelapha okulungile.

Izinhlanganisela ezivamile zifaka:

• Izifo, ezingase zibe zinobukhulu obukhulu noma obukhulu futhi zingase zidinga ukwelashwa okuqhubekayo
• Ubunzima bokuthola ukudla ebuntwaneni, ngezinye izikhathi kudingeka izindlela ezikhethekile zokudla
• Iziphepho zokulala, kufaka phakathi ubunzima bokuthola ubuthongo nokuvuka okuvamile ebusuku
• I-Scoliosis (umgogodla ogobile), ongase udinga ukulandelelwa noma ukwelashwa
• I-Constipation, ngokuvamile idinga ukuguqulwa kokudla noma ukwelashwa
• Ukusebenza ngokweqile nezingxaki zokuqaphela

Izinhlanganisela ezingavamile zingafaka izinkinga zamehlo njenge-strabismus (amehlo aqhelelene), izinkinga zamahlombe, futhi kwezinye izimo, izinkinga zokulawula ubushushu. Abanye abantu bangase bahlupheke nge-gastroesophageal reflux, engase ithonye ukudla nokududuzeka.

Izindaba ezinhle ukuthi abantu abaningi abane-Angelman syndrome banesikhathi sokuphila esijwayelekile. Ngokunakekelwa kwezokwelapha okulungile nokusekelwa, izinhlanganisela eziningi zingaphathwa kahle, zivumela abantu ukuba baphile ukuphila okujabulisayo, okuhlanganyelwe emindenini nasemabandleni abo.

I-Angelman syndrome ixilongwa kanjani?

Ukuxilongwa kwe-Angelman syndrome ngokuvamile kuhilela ukuhlolwa kwe-genetic, kodwa inqubo ngokuvamile iqala ngodokotela wakho ebuka ukuthuthuka komntwana wakho nezimpawu. Ayikho i-test eyodwa engakwazi ukukuqinisekisa ngokushesha ukuxilongwa, ngakho-ke ngokuvamile kudinga ukubambisana kokuhlola okungokwelapha nokuhlolwa okukhethekile.

Udokotela wakho uzoqala enze ukuhlolwa komzimba okuphelele futhi ahlole imbali yokuthuthuka komntwana wakho. Uzobheka izici ezivamile njengokulibaziseka kokuthuthuka, izingxaki zokunyakaza, nokuziphatha okujabulisayo okuvamile ngokuhleka okuvamile.

Inqubo yokuhlolwa kwe-genetic ngokuvamile ifaka:

1. Ukuhlolwa kwe-DNA methylation, okungathola cishe ama-80% ezimo
2. Ukuhlaziywa kwe-chromosomal microarray ukubheka ukucisha
3. Ukuhlelwa kwe-UBE3A gene uma ezinye izivivinyo zijwayelekile kodwa izimpawu zikhomba kakhulu lesi simo
4. Izivivinyo ezikhethekile ezengeziwe kwezinye izimo

Ukuthola ukuxilongwa kungathatha isikhathi, futhi ungase udinga ukubona ochwepheshe abaningi kufaka ochwepheshe be-genetic, ochwepheshe bezinso, nochwepheshe bezingane abathuthukayo. Le nqubo ingase ibe nzima, kodwa isinyathelo ngasinye sisiza ukwakha umbono ocacile wezidingo zakho zomntwana.

Yikuphi ukwelashwa kwe-Angelman syndrome?

Nakuba ayikho indlela yokwelapha i-Angelman syndrome, kunezindlela eziningi zokwelapha nezinsizakalo ezingathuthukisa kakhulu ikhwalithi yokuphila futhi zisize abantu ukuba bafinyelele ikhono labo eliphelele. Ukwelashwa kugxile ekulawuleni izimpawu nasekusekeleni ukuthuthuka ezindaweni eziningi.

Izindlela zokwelapha eziyinhloko zifaka:

• Ukwelashwa komzimba ukuthuthukisa amandla, ukuqondana, nokunyakaza
• Ukwelashwa komsebenzi ukuthuthukisa amakhono okuhlala usuku lonke
• Ukwelashwa kokukhuluma nokusekelwa kokuxhumana, ngokuvamile kufaka izindlela ezihlukile zokuxhumana
• Imithi yokulwa nezifo uma kukhona izifo
• Imithi yokulala noma izindlela zokuziphatha zezinkinga zokulala
• Ukusekelwa kwezemfundo neziqeqesho zokufunda ezikhethekile

Imindeni eminingi iyathola ukwelashwa kokuziphatha kuwusizo ekulawuleni ukusebenza ngokweqile nezingxaki zokuqaphela. Abanye abantu bayazuza kumadivayisi e-orthotic ukuze basize ekuhambeni, futhi ezimweni ze-scoliosis ezinzima, ukungenelela kokucutshungulwa kungase kunconywe.

Ukuthi yikuphi ukusebenzisana neqembu lochwepheshe oluqonda i-Angelman syndrome. Lokhu kungafaka ochwepheshe bezinso, ochwepheshe bezingane abathuthukayo, ochwepheshe bomzimba, ochwepheshe bokukhuluma, nochwepheshe bezemfundo ezikhethekile abangakha uhlelo oluphelele lokunakekelwa oluhambelana nezidingo zakho zomuntu othandekayo.

Unganikeza kanjani ukunakekelwa okusekela ekhaya?

Ukudala indawo yasekhaya esekelayo kungenza umehluko omkhulu ekududuzeni komuntu othandekayo wakho nakuhlale usuku lonke. Imindeni eminingi yakha izindlela nezindlela ezisebenza kahle isimo sabo esithile.

Nazi ezinye izindlela ezivame ukusiza:

• Ukusetha izindlela zansuku zonke ezihlala njalo, ikakhulukazi ngesikhathi sokudla nesikhathi sokulala
• Ukusebenzisa izinhlelo ezibonakalayo namabhodi okuxhumana ukuze usekele ukuqonda
• Ukudala indawo ephephile yokuhlola, njengoba abantu abaningi bathakazelela amanzi nezinto ezincane
• Ukwenza izipiliyoni zezinzwa abazithandayo, njengomculo, izinto ezinqunu, noma ukunyakaza okuthambile
• Ukusebenza emakhonweni alula okuxhumana ngesikhathi semisebenzi yansuku zonke
• Ukukhuthaza ukusebenza komzimba okuhambelana nezinga labo lokunyakaza

Ubuthongo bungase bube inselele, ngakho-ke imindeni eminingi iyathola impumelelo ngama-curtains amnyama, umsindo omhlophe, nezindlela zokulala ezihlala njalo. Abanye abantu abane-Angelman syndrome bayazuza eembhedeni ezinezinto ezisindayo noma ezinye izinto zokuthula zezinzwa.

Khumbula ukuthi isinyathelo ngasinye esincane siyabaluleka. Ukugubha impumelelo, kungakhathaliseki ukuthi incinyane kangakanani, kusiza ukudala indawo enhle esekela ukukhula okuqhubekayo nokujabula.

Kufanele ulungiselele kanjani izikhathi zokubona udokotela?

Ukulungiselela izikhathi zokubona udokotela kungakusiza ukuba wenze okuningi ngesikhathi sakho nochwepheshe bezempilo futhi kuqinisekise ukuthi uthola ulwazi nokusekelwa okudingayo. Ukulungiselela okuhle kungasiza futhi kunciphisa ukucindezeleka kokubili wena nomuntu othandekayo wakho.

Ngaphambi kokubona udokotela, buza ulwazi olubalulekile njengoluhlu lwemithi yamanje, noma yikuphi ukuguqulwa kwesikhathi esizayo esimweni noma ukuziphatha, nemibuzo ofuna ukuyibuza. Gcina idayari emfushane yezifo, izindlela zokulala, noma ezinye izimpawu ezinkulu uma lezi zingxaki ziqhubeka.

Cabanga ukuletha:

• Uhlu lwezinsizakalo zamanje nemithi
• Amavidiyo amasha okuziphatha okukhathazayo noma izimpawu
• Imibiko yesikole noma amanothi okuqhubeka kokwelashwa
• Uhlu lwemibuzo oluqondiswe ngokubaluleka
• Ilungu lomndeni othembekile noma umngani wokusekela

Ngesikhathi sokubona udokotela, ungangabazi ukucela incazelo uma amagama ezokwelapha ekukhathaza. Odokotela abaningi bayajabula uma imindeni ifika ilulekile futhi ihileleke enkambeni yokunakekelwa.

Yikuphi okubalulekile mayelana ne-Angelman syndrome?

I-Angelman syndrome iyisimo esiyinkimbinkimbi se-genetic esithinta ukuthuthuka futhi sidinga ukusekelwa okuqhubekayo, kodwa kubalulekile ukukhumbula ukuthi abantu abanesimo bangaphila ukuphila okuhlangabezana nezidingo, okujabulisayo. Ukujabula okuvamile nobuntu lokuhlanganyela kwabantu abaningi abane-Angelman syndrome ngokuvamile kuletha injabulo engalindelekile emindenini nasemabandleni.

Nakuba ukuxilongwa kungase kube nzima ekuqaleni, ukuxhumana nezinye imindeni, amaqembu ezempilo, nezinhlangano zokusekela kungakusiza ukunikeza isiqondiso nethemba. Ukungenela kwasekuqaleni nezinsizakalo ezihlala njalo zingenza umehluko omkhulu ekusizeni abantu abane-Angelman syndrome ukuthuthukisa amakhono abo nokuxhumana nezidingo zabo.

Okubalulekile ukugxila emakhonweni akho ahlukile womuntu othandekayo wakho nokuhalalisela intuthuko, kungakhathaliseki ukuthi iyaphuthuma kangakanani. Ngokusekelwa okulungile, ukunakekelwa kwezokwelapha, nendawo yothando, abantu abane-Angelman syndrome bangaba nokuphila okunengqondo, okuhlala njalo okugcwele ukuxhumana nokujabula.

Imibuzo evamile ebuzwa mayelana ne-Angelman syndrome

Ingabe umntwana wami one-Angelman syndrome uzohamba?

Abantwana abaningi abane-Angelman syndrome bafunda ukuhamba, nakuba ngokuvamile kwenzeka kamuva kunokujwayelekile futhi indlela yokuhamba ingase ibukeke ngokuhlukile. Abanye abantwana bahamba ngokuzimela ngeminyaka engu-2-3, kanti abanye bangase bangahambi kuze kube eminyakeni engu-4-7 noma kamuva. Ukwelashwa komzimba kungasiza kakhulu ekuthuthukiseni amakhono okuhamba nokuqondana ngokuhamba kwesikhathi.

Ingabe abantu abane-Angelman syndrome bangaxhumana?

Nakuba abantu abaningi abane-Angelman syndrome banokukhuluma okuncane kakhulu, ngokuvamile baqonda okuningi kunalokho abangakwazi ukuveza ngomlomo. Abaningi bafunda ukuxhumana kahle ngezibonakaliso, amabhodi ezithombe, ulimi lokuqondisa, noma amadivayisi okuxhumana e-electronic. Ulimi lwabo oluqondayo (ukuqonda) ngokuvamile luhle kakhulu kunolimi lwabo oluveziwe (ukukhuluma).

Ingabe izifo ze-Angelman syndrome ziyaqina ngokuhamba kwesikhathi?

Izifo zivame kakhulu e-Angelman syndrome, zithinta cishe abantu abangu-80%, kodwa azidingeki zibe zimbi ngokuhamba kwesikhathi. Eqinisweni, izifo ngokuvamile ziyaqala zibe zingekho kakhulu futhi kulula ukuzilawula njengoba abantwana bekhula, ikakhulukazi ngemithi efanele. Abantu abaningi bathola ukuthi izifo ziyaqala zibe zingekho kakhulu ngesikhathi seminyaka yobusha nobudala.

Ingabe i-Angelman syndrome ithatha kubazali?

Ezimweni eziningi, i-Angelman syndrome iyenzeka ngokungahleliwe futhi ayithathwa kubazali. Cishe ama-90% ezimo ziyizinguquko ezintsha ze-genetic ezenzeka ngesikhathi sokwenziwa kwamaseli okuzala noma ekuqaleni kokukhulelwa. Kuphela ezimweni ezingavamile ezihilela ukulungiswa kabusha kwe-chromosome kungase kube nethuba elikhulu kancane lokuqhubeka kokukhulelwa.

Yikuphi ukuphila okulindelekile komuntu one-Angelman syndrome?

Abantu abane-Angelman syndrome ngokuvamile banesikhathi sokuphila esijwayelekile noma esiseduze nesijwayelekile. Nakuba lesi simo siletha izinselele ezidinga ukusekelwa okuqhubekayo nokunakekelwa kwezokwelapha, ngokuvamile alifinyeleli isikhathi sokuphila kakhulu. Abantu abaningi abadala abane-Angelman syndrome baphila kuze kube eminyakeni yabo yobudala, ikakhulukazi ngokunakekelwa kwezokwelapha okuhle nokusekelwa komndeni.