Kuyonwabisa nakuphi na umzali ukubona umntwana wakhe encuma kwaye evuya ngamaxesha onke, akunjalo? Kodwa ngaba wakha wacinga ukuba ngamanye amaxesha olu lonwabo oluqhubekayo kunye nokuziphatha okuqhwaba izandla kunokuba luphawu lwesifo esingaqhelekanga semfuza? Usenokumangaliswa kukuva oku. Namhlanje sithetha ngesinye sezifo ezinjalo, i-Angelman Syndrome.
Ngamafutshane, yintoni i-Angelman Syndrome?
I-Angelman Syndrome sisifo esingaqhelekanga semfuza esichaphazela ukukhula komntwana wakho, intetho yakhe, ukulinganisela kwakhe kunye nokuhamba kwakhe. Kwezinye iimeko, sinokubangela ukuxhuzula.
Xa ujonga umntwana onesi sifo, uya kuphawula ukuba uhlala onwabile kwaye ekwimo entle kunomntwana oqhelekileyo. Bancuma kakhulu, bahleka kakhulu. Benza intshukumo yokuqhwaba izandla xa bonwabile. Enyanisweni, nathi siziva sonwabile xa sibona umntwana encuma. Ke ngoko, kunokubonakala kungaqhelekanga kuwe ukucinga ukuba olu hlobo lolonwabo lomntwana lunokuba luphawu lwesifo.
Ezinye iimpawu zisenokuqala ukubonakala njengoko umntwana ekhula. Umzekelo, ungaqala ukuqaphela ukulibaziseka kokukhula , njengokungathethi igama lakhe lokuqala xa eneminyaka emnye ubudala. Ukuxhuzula kusenokwenzeka phakathi kweminyaka emibini ukuya kwemithathu ubudala.
Le meko ayisongeli ubomi. Oko kukuthi, ayibufinyezi ubomi bomntwana. Nangona kunjalo, njengoko umntwana ekhula, unokujongana nemingeni ethile ngentshukumo, intetho, kunye nophuhliso. Kodwa ungakhathazeki, kukho unyango olufanelekileyo lokulawula ezi mpawu.
Ixhaphake kangakanani le meko?
I-Angelman Syndrome yimeko engaqhelekanga kakhulu , echaphazela umntu omnye kubantu abayi-12,000 ukuya kuma-20,000.
Zithini iimpawu ze-Angelman Syndrome?
Iimpawu zesi sifo zingahluka ukusuka kumntu ukuya komnye kwaye ngokweminyaka. Masizihlukanise zibe ziindidi ezimbini.
| Iimpawu ezibonakalayo kakhulu | |
|---|---|
| Uphawu | Inkcazo |
| Ukulibaziseka kophuhliso | Ukungakwazi ukukhasa, ukuhlala, okanye ukuhamba ngendlela efanelekileyo ngokweminyaka. |
| Ukukhubazeka kwengqondo | Ubunzima bokufunda nokuqonda. |
| Ubunzima bokuthetha | Abanye abantwana bathetha amagama ambalwa kuphela, ngoxa abanye bengenakukwazi ukuthetha konke konke. |
| Ubunzima bokuhamba | Ukuhamba okungazinzanga, okushukumayo kunye nokuhamba okuvulekileyo. |
| Iingxaki zokulinganisela (i-Ataxia) | Ubunzima bokugcina ulungelelwano lomzimba kunye nokulungelelana. |
| Ukuxhuzula | Ingadla ngokuqala phakathi kweminyaka emi-2 ne-3 ubudala. |
| Ezinye iimpawu ezinokubonwa | |
|---|---|
| Uphawu | Inkcazo |
| Ubunzima bokutya ebantwaneni abancinci | Ubunzima bokufunxa okanye ukuginya ukutya. |
| Iingxaki zokulala | Ukuvuka rhoqo, ukungalali. |
| I-Scoliosis | Ukugoba umqolo ecaleni. |
| Iingxaki zenkqubo yokugaya ukutya | Ukuqunjelwa okanye ukubuyela kwe-acid esiswini kwi-esophagus (GERD) . |
| Iingxaki zamehlo | Iintshukumo zamehlo ezingalawulekiyo (nystagmus) , istrabismus , kunye nokuva ukukhanya (photophobia) . |
| Ukuncipha kombala wolusu (ukuncipha kombala wolusu) | Ulusu, iinwele, kunye nombala wamehlo uba mhlophe kunesiqhelo. |
Iimpawu ezikhethekileyo ezibonakala ebusweni baba bantwana
- Ukhakhayi olufutshane nolubanzi `(brachycephaly)`
- Ulwimi olukhulu `(macroglossia)`
- Incinci kunentloko eqhelekileyo (i-microcephaly)
- I-prognathia ye-Mandibular
- Umlomo obanzi
- Izikhewu ezinkulu phakathi kwamazinyo
Ezi mpawu zisenokubonakala ngakumbi njengoko ukhula.
Kutheni i-Angelman Syndrome isenzeka? Yintoni unobangela?
Khawucinge ukuba imizimba yethu ineencwadi zemiyalelo. Ezi gene sizibiza ngokuba zii-gene . Ezi gene zilawula yonke into emizimbeni yethu. I-Angelman Syndrome ibangelwa lutshintsho okanye isiphene kwi-gene ebizwa ngokuba yi-'UBE3A' . Le gene ibaluleke kakhulu ekulawuleni ukusebenza kwenkqubo yethu yemithambo-luvo.
Ngokwesiqhelo, sifumana iikopi ezimbini zejini nganye, enye ivela kumama wethu kwaye enye ivela kubaba wethu. Kwiindawo ezininzi zomzimba, zombini ezi kopi ziyasebenza. Nangona kunjalo, kwiindawo ezithile zobuchopho, yikopi yejini ethi `UBE3A` kuphela esiyifumana kumama wethu esebenzayo.
Ukuba ikopi yejini ethi `UBE3A` ezuzwe kumama yonakele okanye ilahlekile ngandlela ithile, akukho jini ethi `UBE3A` esebenzayo kwezo ndawo zengqondo. Le yeyona nto iphambili ebangela iimpawu ezinxulumene ne-Angelman Syndrome.
Into ebalulekileyo kukuba esi sifo asiqhelekanga ukuba sifumaneke njengelifa. Oku kuthetha ukuba nokuba akukho mntu unesifo kusapho, umntwana unokusifumana ngenxa yotshintsho olungalindelekanga kwiijini.
Oogqirha bayixilonga njani le sifo?
Iimpawu zesi sifo azisoloko zibonakala xa umntwana ezalwa. Oogqirha badla ngokuxilonga esi sifo xa umntwana ephakathi konyaka omnye ukuya kwemine ubudala.
Ukuba ugqirha uqaphela ukuba umntwana ukhula kancinci, njengokungathethi ngesantya esifanelekileyo kwiminyaka yakhe okanye ukungaqali ukuhamba, usenokuba nexhala. Emva koko uya kuhlola ngononophelo indlela umntwana aziphethe ngayo kunye nezinye iimpawu zakhe.
Ukuqinisekisa ukuxilongwa, kufuneka uvavanyo lwemfuza . Olu vavanyo lunokumisela ngokuchanekileyo ukuba kukho isiphene kwi-gene ye-`UBE3A`.
Ngaba kunokwenzeka ukuba esi sifo singabonwa ngendlela engafanelekanga?
Ewe, ngamanye amaxesha kunokuba njalo, kuba iimpawu ze-Angelman Syndrome ziyafana nezinye iimeko zonyango ezininzi.
- Isifo se-Autism spectrum
- Umvakalelo yokitazo
- Isifo sikaPrader-Willi
Ngenxa yokuba iimeko ezinje zinokudibana, uvavanyo lwemfuza lubalulekile ukuze kufunyanwe isifo esichanekileyo.
Ziziphi iindlela zonyango lwe-Angelman Syndrome?
Okwangoku akukho nyango lwe-Angelman Syndrome. Nangona kunjalo, kukho unyango oluninzi olunokunceda ukulawula iimpawu kwaye luncede umntwana aphile ubomi obungcono.
- Amayeza okuthintela ukuxhuzula: Nika amayeza anikwe ngugqirha ngokufanelekileyo.
- Unyango lokuthetha: Ukunceda umntwana aveze iimvakalelo zakhe ngokusebenzisa ulwimi lwezandla, imifanekiso, kunye nezixhobo ezikhethekileyo zonxibelelwano.
- Unyango lomzimba: Lunceda ukuphucula ukuhamba, ukulinganisela, kunye nokulungelelanisa umzimba.
- Unyango lomsebenzi: Ukuqeqesha umntwana ukuba enze imisebenzi yemihla ngemihla ngokuzimela aze azimele.
- Izixhobo zokuncedisa: Ukusetyenziswa kwezixhasi ezinxitywa emqolo, emaqatheni, okanye ezinyaweni ukunceda ekuhambeni nasekumeni.
- Ngeengxaki zokulala: Yiba nemikhwa emihle yokulala kwaye uziqhelise ukulala ngexesha elibekiweyo.
- Ngeengxaki zokugaya ukutya: Nika amayeza abhalwe ngugqirha.
Iimfuno zonyango zomntwana ngamnye zahlukile. Ugqirha wakho uya kumisela isicwangciso sonyango esifanelekileyo ngokusekelwe kwiimpawu neemfuno zomntwana wakho.
Ndingenza ntoni ukuze ndinyamekele umntwana wam?
Njengabazali, ninendima enkulu enifanele niyidlale.
- Nika amayeza achazwe ngugqirha ngexesha elifanelekileyo nangedosi echanekileyo.
- Qiniseka ukuba uyaya kwiikliniki ezijonga ukukhula komntwana wakho.
- Cela umntwana wakho ukuba athathe inxaxheba kwiiseshoni zonyango lomzimba, lomsebenzi, kunye nonyango lokuthetha.
- Qiniseka ukuba uya kugqirha ngalo lonke ixesha ocwangcisiweyo lokubonana naye.
Abantwana abane-Angelman Syndrome banokufuna uncedo ngemisebenzi yemihla ngemihla ubomi babo bonke. Iqela lezonyango elinyanga umntwana wakho liza kukunika inkxaso neengcebiso ozifunayo.
Udinga nini ukubona ugqirha?
Umntwana onesi sifo udinga ukuvavanywa rhoqo ngugqirha ukuqinisekisa ukuba unyango kunye nonyango lusebenza kakuhle. Ukuba ubona naluphi na utshintsho olutsha okanye ukuba mandundu kweempawu zomntwana wakho, yazisa ugqirha wakho ngoko nangoko.
Eyona nto ibalulekileyo: Ukuba umntwana wakho unesithuthwane okokuqala, mse kwiSebe lezeMpilo eziNgxamisekileyo (ETU) lesibhedlele ngoko nangoko.
Liza kuba njani ikamva laba bantwana?
Uninzi lwabantu abane-Angelman Syndrome baphila ubomi obuqhelekileyo. Oku kuthetha ukuba abafi ngokukhawuleza ngenxa yesi sifo. Njengoko umntwana ekhula, kuya kubakho ukulibaziseka kwintshukumo, intetho, kunye nophuhliso. Nangona kunjalo, umntwana angadlala, afunde, kwaye asebenze nabanye abantwana.
Njengabantu abadala, abanye abantu banokuhlala bodwa ngenkxaso ethile. Abanye banokufuna unyango olupheleleyo.
Kuyaqondakala ukuba uzive unzima xa ufumanisa ukuba uncumo oluhle lomntwana wakho luphawu lwesifo. Kodwa khumbula, nokuba emva kokufunyaniswa kwesi sifo, umntwana wakho omncinci uya kuba nolu ncumo lumnandi, olo ncumo lumnandi. Eyona nto ibalulekileyo kukunika ingqalelo ekukhuleni komntwana wakho kwaye unikeze unyango olufunekayo ngexesha, njengoko ugqirha esitsho. Ugqirha wakho kunye neqela lezonyango baya kukunceda kuyo yonke inyathelo. Ngoko ungoyiki ukubuza imibuzo nokufunda okungakumbi ngale meko.
Umyalezo Wokuya Ekhaya
- I-Angelman Syndrome yimeko engaqhelekanga yemfuza. Ayibangelwanga yimpazamo yabazali.
- Iimpawu eziphambili zoku ziquka ukuba wonwabile ngalo lonke ixesha, ukuncuma, ukulibaziseka ekuphuhliseni, kunye nobunzima bokuthetha.
- Nangona kungekho nyango lupheleleyo lwale meko, iindlela zonyango kunye namayeza anokunceda ukulawula iimpawu kwaye anike umntwana ubomi obuhle.
- Ubomi baba bantwana buqhelekile.
- Ukuxilongwa kwangoko kunye nokuqaliswa konyango kunye neenkonzo zonyango kubaluleke kakhulu kwikamva lomntwana.
- Hlala ulandela imiyalelo kagqirha wakho kwaye uye kuzo zonke iikliniki ezicwangcisiweyo.
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