Kuyinjabulo kunoma yimuphi umzali ukubona ingane yakhe encane imomotheka futhi ijabule ngaso sonke isikhathi, akunjalo? Kodwa wake wacabanga ukuthi ngezinye izikhathi lokhu kujabula okuqhubekayo kanye nokuziphatha kokushaya izandla kungaba uphawu lwesifo esingavamile sofuzo? Ungase umangale ukuzwa lokhu. Namuhla sikhuluma ngesinye salezo zimo, i-Angelman Syndrome.
Kalula nje, iyini i-Angelman Syndrome?
I-Angelman Syndrome yisimo esingavamile sofuzo esithinta intuthuko yengane yakho, inkulumo, ibhalansi, kanye nokunyakaza. Kwezinye izimo, ingabangela nokuquleka.
Uma ubheka ingane enalesi simo, uzobona ukuthi ihlala ijabule futhi isesimweni esingcono kunengane evamile. Imamatheka kakhulu, ihleka kakhulu. Yenza ukunyakaza kokushaya izandla uma ijabule. Eqinisweni, sizizwa sijabule nalapho sibona ingane imamatheka. Ngakho-ke, kungase kubonakale kungavamile kuwe ukucabanga ukuthi lesi simo senjabulo sengane singaba uphawu lwesifo.
Ezinye izimpawu zingase ziqale ukuvela njengoba ingane ikhula. Isibonelo, ungase uqale ukuqaphela ukubambezeleka kokukhula , njengokungasho igama layo lokuqala lapho isinonyaka owodwa ubudala. Ukuquleka kungase kwenzeke futhi phakathi kweminyaka emibili neyimithathu ubudala.
Lesi simo asisongeli impilo. Okusho ukuthi, asifinyezi isikhathi sokuphila kwengane. Kodwa-ke, njengoba ingane ikhula, ingase ibhekane nezinselele ezithile ngokunyakaza, ukukhuluma, kanye nokukhula. Kodwa ungakhathazeki, kunezindlela zokwelapha ezinhle zokulawula lezi zimpawu.
Sivame kangakanani lesi simo?
I-Angelman Syndrome iyisimo esingavamile kakhulu , esithinta cishe umuntu oyedwa kubantu abayi-12,000 kuya kwabangu-20,000.
Ziyini izimpawu ze-Angelman Syndrome?
Izimpawu zalesi simo zingahluka kuye ngomuntu nomuntu kanye nobudala. Ake sizihlukanise zibe izigaba ezimbili.
| Izici ezibonakala kakhulu | |
|---|---|
| Isici | Incazelo |
| Ukulibaziseka kokuthuthukiswa | Ukungakwazi ukukhasa, ukuhlala, noma ukuhamba ngendlela efanele ngokweminyaka. |
| Ukukhubazeka kwengqondo | Ubunzima bokufunda nokuqonda. |
| Ubunzima bokukhuluma | Ezinye izingane zikhuluma amagama ambalwa kuphela, kanti ezinye zingase zingakwazi ukukhuluma nhlobo. |
| Ubunzima bokuhamba | Ukuhamba okungazinzile, okunyakazisayo kanye nokuhamba okuvulekile. |
| Izinkinga zokulinganisela (i-Ataxia) | Ubunzima bokugcina ibhalansi yomzimba kanye nokuxhumana. |
| Ukuquleka | Ngokuvamile kungaqala phakathi kweminyaka engu-2 no-3. |
| Ezinye izimpawu ezingase zibonakale | |
|---|---|
| Isici | Incazelo |
| Izinkinga zokudla ezinganeni ezincane | Ubunzima bokuncela noma ukugwinya ukudla. |
| Izinkinga zokulala | Ukuvuka njalo, ukuqwasha. |
| I-Scoliosis | Ukugoba umgogodla ohlangothini. |
| Izinkinga zesistimu yokugaya ukudla | Ukuqunjelwa noma ukuphinda kwe-acid esiswini kungene emphinjeni (GERD) . |
| Izinkinga zamehlo | Ukunyakaza kwamehlo okungalawulwa (i-nystagmus) , i-strabismus , kanye nokuzwela ukukhanya (i-photophobia) . |
| Ukwehla kombala wesikhumba (i-hypopigmentation) | Isikhumba, izinwele, nombala wamehlo kuba lula kunokuvamile. |
Izici ezikhethekile ezibonakala ebusweni balaba bantwana
- Ukhakhayi olufushane nolubanzi `(brachycephaly)`
- Ulimi olukhulu `(macroglossia)`
- Ikhanda elincane kunelivamile (i-microcephaly)
- I-prognathia ye-Mandibular
- Umlomo obanzi
- Izikhala ezinkulu phakathi kwamazinyo
Lezi zimpawu zingase zibonakale kakhulu njengoba ukhula.
Kungani i-Angelman Syndrome yenzeka? Iyini imbangela?
Ake sithi imizimba yethu ineqoqo lezincwadi zemiyalelo. Lezi zinhlobo zofuzo sizibiza ngokuthi. Lezi zinhlobo zofuzo zilawula konke emizimbeni yethu. I-Angelman Syndrome ibangelwa ushintsho noma iphutha ku-gene ebizwa ngokuthi `UBE3A` . Le gene ibaluleke kakhulu ekulawuleni ukusebenza kwesimiso sethu sezinzwa.
Ngokuvamile, sithola amakhophi amabili esakhi sofuzo ngasinye, esisodwa sivela kumama wethu kanti esinye sivela kubaba. Ezingxenyeni eziningi zomzimba, womabili la makhophi ayasebenza. Kodwa-ke, ezindaweni ezithile zobuchopho, yikhophi yesakhi sofuzo `UBE3A` kuphela esiyithola kumama wethu esebenzayo.
Uma ikhophi yesakhi sofuzo esithi `UBE3A` esizuzwe kunina yonakele noma ilahlekile ngandlela thile, akukho sakhi sofuzo esisebenzayo esithi `UBE3A` kulezo zingxenye zobuchopho. Lesi yisona sizathu esiyinhloko sezimpawu ezihlobene ne-Angelman Syndrome.
Into ebalulekile ukuthi lesi simo ngokuvamile asisilo ifa. Lokhu kusho ukuthi noma kungekho muntu emndenini onalesi sifo, ingane ingasithola ngenxa yokushintsha okungahleliwe kwezakhi zofuzo.
Odokotela basithola kanjani lesi sifo?
Izimpawu zalesi sifo ngokuvamile azibonakali lapho umntwana ezalwa. Odokotela bavame ukuxilonga lesi sifo lapho umntwana ephakathi konyaka owodwa kuya kwemine ubudala.
Uma udokotela ebona ukuthi ingane ikhula kancane, njengokungakhulumi ngesivinini esifanele iminyaka yayo noma ukungaqali ukuhamba, angase abe nokungabaza. Uzobe esehlola ngokucophelela ukuziphatha kwengane kanye nezinye izimpawu zayo.
Ukuqinisekisa ukuxilongwa, kudingeka ukuhlolwa kofuzo . Lokhu kuhlolwa kunganquma ngokunembile ukuthi kukhona yini iphutha ku-gene `UBE3A`.
Kungenzeka yini ukuhlonza lesi sifo ngendlela engafanele?
Yebo, ngezinye izikhathi kungaba njalo, ngoba izimpawu ze-Angelman Syndrome zifana nezinye izimo eziningana zezokwelapha.
- Isifo se-Autism spectrum
- Ukukhubazeka kobuchopho
- Isifo sikaPrader-Willi
Ngenxa yokuthi izimo ezinjengalezi zingahlangana, ukuhlolwa kofuzo kubalulekile ukuze kutholakale ukuxilongwa okunembile.
Yiziphi izindlela zokwelapha i-Angelman Syndrome?
Okwamanje akukho ukwelashwa kwe-Angelman Syndrome. Kodwa-ke, kunezindlela eziningi zokwelapha ezingasiza ekulawuleni izimpawu futhi zisize ingane iphile impilo engcono.
- Imithi yokuvimbela ukuquleka: Phatha imithi oyinikezwe udokotela ngendlela efanele.
- Ukwelapha ngenkulumo: Ukusiza ingane ukuthi iziveze isebenzisa ulimi lwezandla, izithombe, kanye namadivayisi okuxhumana akhethekile.
- Ukwelashwa ngokomzimba: Kusiza ekuthuthukiseni ukuhamba, ibhalansi, kanye nokuxhumana.
- Ukwelashwa Komsebenzi: Ukuqeqesha ingane ukuthi yenze imisebenzi yansuku zonke ngokuzimela futhi izimele.
- Amadivayisi okusiza: Ukusetshenziswa kwezibambo ezigqokwa emhlane, emaqakaleni, noma ezinyaweni ukusiza ngokuhamba nokuma.
- Ngezinkinga zokulala: Yiba nemikhuba emihle yokulala futhi ube nomkhuba wokulala ngesikhathi esibekiwe.
- Ngezinkinga zokugaya ukudla: Nikeza imithi oyinikezwe udokotela.
Izidingo zokwelashwa kwengane ngayinye zihlukile. Udokotela wakho uzonquma uhlelo lokwelashwa olungcono kakhulu ngokusekelwe ezimpawini nezidingo zengane yakho.
Yini engingayenza ukuze nginakekele ingane yami?
Njengabazali, ninendima enkulu okufanele niyidlale.
- Nikeza imithi oyinikezwe udokotela ngesikhathi nangesilinganiso esifanele.
- Qiniseka ukuthi uya emitholampilo ehlola ukukhula kwengane yakho.
- Cela ingane yakho ukuthi ihlanganyele emihlanganweni yokwelapha ngokomzimba, emsebenzini, kanye nasemihlanganweni yokwelapha ngenkulumo.
- Qiniseka ukuthi uya kudokotela kuzo zonke izikhathi ezihleliwe.
Izingane ezine-Angelman Syndrome zingadinga usizo ngemisebenzi yansuku zonke empilweni yazo yonke. Ithimba lezokwelapha elilapha ingane yakho lizokunikeza ukwesekwa neseluleko osidingayo.
Kunini lapho udinga ukubonana nodokotela?
Ingane enalesi simo idinga ukuhlolwa njalo kwezokwelapha ukuqinisekisa ukuthi ukwelashwa nokwelashwa kusebenza kahle. Uma ubona noma yiziphi izinguquko ezintsha noma ukuba mandundu kwezimpawu zengane yakho, yazisa udokotela wakho ngokushesha.
Okubaluleke kakhulu: Uma ingane yakho inesifo sokuwa okokuqala, yiyise eMnyangweni Wezimo Eziphuthumayo (ETU) wesibhedlela ngokushesha.
Lizoba njani ikusasa lalaba bantwana?
Iningi labantu abane-Angelman Syndrome liphila impilo ejwayelekile. Lokhu kusho ukuthi abafi ngokushesha ngenxa yalesi simo. Njengoba ingane ikhula, kuzoba nokubambezeleka kokunyakaza, ukukhuluma, kanye nokukhula. Kodwa-ke, ingane ingadlala, ifunde, futhi isebenze nezinye izingane.
Njengoba sebekhulile, abanye abantu bangaphila ngokuzimela ngokusekelwa okuthile. Abanye bangadinga ukunakekelwa isikhathi esigcwele.
Kuyaqondakala ukuzizwa uthwele kanzima uma ufunda ukuthi ukumamatheka okuhle kwengane yakho kuwuphawu lwesifo. Kodwa khumbula, ngisho nangemva kwalokhu kutholakala, ingane yakho encane isazoba nalolo thando, lolo thando. Into ebaluleke kakhulu ukunaka ukukhula kwengane yakho nokuhlinzeka ngokwelashwa okudingekayo ngesikhathi, njengoba udokotela esho. Udokotela wakho kanye nethimba lezokwelapha bazokusiza kuzo zonke izinyathelo zendlela. Ngakho-ke ungesabi ukubuza imibuzo nokufunda kabanzi ngalesi simo.
Umlayezo Wokuya Nawe Ekhaya
- I-Angelman Syndrome iyisifo esingavamile esibangelwa izakhi zofuzo. Asibangelwa yiphutha labazali.
- Izici eziyinhloko zalokhu zifaka phakathi ukujabula ngaso sonke isikhathi, ukumamatheka, ukubambezeleka kokukhula, kanye nobunzima bokukhuluma.
- Nakuba kungekho ikhambi eliphelele lalesi simo, izindlela zokwelapha kanye nemithi kungasiza ekulawuleni izimpawu futhi kunikeze ingane impilo enhle.
- Isikhathi sokuphila salezi zingane ngokuvamile sivamile.
- Ukuxilongwa kusenesikhathi kanye nokuqaliswa kokwelashwa kanye nezinsizakalo zokwelapha kubaluleke kakhulu ekusaseni lengane.
- Landela njalo imiyalelo kadokotela wakho futhi uye kuzo zonke izikhungo zezokwelapha ezihleliwe.
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