I-Angelman Syndrome: Ibali Elingasemva Kokuncuma Komntwana Wakho

Ngaba umntwana wakho omncinci uhlala encumile kwaye evuya? Ngaba ngamanye amaxesha uqhwaba izandla zakhe ukubonisa ulonwabo lwakhe? Mhlawumbi uziva ukhululekile xa ulubona. Kodwa, ubusazi ukuba ngamanye amaxesha emva kobuso obonwabileyo, kunokubakho imeko engaqhelekanga yemfuza echaphazela ukukhula kwakhe, intetho yakhe, kunye nokuhamba kwakhe? Namhlanje, siza kuthetha ngenye yeemeko ezinjalo, i-Angelman Syndrome.

Yintoni i-Angelman Syndrome?

Ngamafutshane, i-Angelman Syndrome sisifo esingaqhelekanga kakhulu esibangelwa yimfuza . Sinokuchaphazela ukukhula komntwana wakho, intetho yakhe, kunye nokuhamba kwakhe. Abanye abantwana banokuba nokuxhuzula.

Kodwa into ekhethekileyo ngale nto kukuba abantwana abanale meko badla ngokubonwa bevuya kakhulu kwaye bencumile . Bancuma kakhulu, bahleke kakhulu, kwaye ngamanye amaxesha benza "intshukumo yokuqhwaba izandla" xa bevuya. Xa ubona oku, nawe uziva wonwabile, kwaye unokucinga, 'Owu, ngaba olu lonwabo kumntwana wam lungaba luphawu lokugula?'' Yimvakalelo engaqhelekanga, akunjalo?

Le meko ayisongeli ubomi, oko kuthetha ukuba ayinampembelelo ingako kubomi bomntwana wakho. Nangona kunjalo, inokubakhathaza kancinci abazali abatsha. Njengoko umntwana wakho ekhula, unokujongana nemingeni yokuhamba, ukuthetha, kunye nophuhliso. Nangona kunjalo, kukho unyango olufanelekileyo olunokukunceda ukulawula ezi mpawu kwaye uphile ubomi obuqhelekileyo.

Inqabile kangakanani i-Angelman Syndrome?

Le yimeko engaqhelekanga kakhulu. Xa sithetha nje, ichaphazela malunga nomnye kubantwana abali-12,000 ukuya kuma-20,000 .

Singazi njani ukuba umntwana wethu unale meko? (Iimpawu)

Iimpawu zabantwana abane-Angelman Syndrome zinokwahluka ukusuka kumntu ukuya komnye. Ezi mpawu zinokutshintsha nangokukhula. Makhe sijonge iimpawu eziphambili ezinokubonwa.

Iimpawu ezinokubonwa ebuntwaneni

Usenokuba waqaphela izinto ezithile xa umntwana wakho wayesemncinci. Umzekelo:

• Ukulibaziseka kokukhula: Basenokungakwazi ukwenza izinto ngesantya esifanayo nabanye abantwana. Umzekelo, ukungathethi amagama abo okuqala xa beneminyaka emalunga nonyaka ubudala.
• Ubunzima bokuncancisa: Umntwana usenokuba nobunzima bokubambelela esifubeni.
• Uhlala wonwabile kwaye uncumile: Le yinto yokuqala abantu abaninzi abayiqaphelayo. Uhlala uncumile, uqhwaba izandla xa uchwayitile.
• Iingxaki zokulala: Iingxaki malunga neendlela zokulala zinokubakho.

Iimpawu ezinokubonwa xa ukhula kancinci

Njengoko umntwana ekhula kancinci, malunga neminyaka emibini okanye emithathu ubudala, ezinye iimpawu zinokuvela:

• Ukukhubazeka kwengqondo: Kunokubonwa ukulibaziseka kwizakhono zokufunda.
• Ubunzima bokuthetha: Abanye abantwana banokuthetha amagama ambalwa kuphela, ngelixa abanyeUsenokungakwazi ukuthetha igama (elingengomlomo).
• Iingxaki zokuhamba: Ungahamba ngendlela engaqhelekanga, ebanzi, ngaphandle kokulinganisela okufanelekileyo . Oku ngamanye amaxesha kubizwa ngokuba yi-ataxia (iingxaki zokulinganisela okanye ukulungelelanisa).
• Ukuxhuzula: Ukuxhuzula kunokuqala phakathi kweminyaka emibini ukuya kwemithathu ubudala.
• Utshintsho lwezihlunu: Kunokubakho ukwanda kwethoni yezihlunu ezingalweni nasemilenzeni, okanye ukwehla kwethoni yezihlunu esiqwini.
• I-Scoliosis: Ukugoba komqolo kubonakala.
• Iingxaki zenkqubo yokugaya ukutya: Ukuqunjelwa okanye isifo sokurhawuzelelwa kwesisu (GERD) sinokubakho.
• Iingxaki zamehlo: Izinto ezifana ne -nystagmus , i-strabismus , kunye ne -photophobia .
• Utshintsho lombala wolusu (hypopigmentation): Umbala wolusu unokuncipha kwezinye iindawo.

Iimpawu ezikhethekileyo zenkangeleko yobuso

Aba bantwana baneempawu ezithile ezikhethekileyo ebusweni babo, kodwa ezi azifani kuye wonke umntu.

• Ukhakhayi olufutshane nolubanzi (i-brachycephaly)
• Ulwimi olukhulu kunoluqhelekileyo (macroglossia)
• Incinci kunentloko eqhelekileyo (i-microcephaly)
• Ukuvela komhlathi ongezantsi (i-mandibular prognathia)
• Umlomo obanzi
• Amazinyo avuleke kakhulu

Ezi mpawu zibonakala ngakumbi njengoko ukhula.

Kutheni oku kusenzeka? Zithini izizathu?

Kulungile, ngoku masibone ukuba yintoni ebangela i-Angelman Syndrome. Le yimeko yemfuza . Ibangelwa lutshintsho kwi-gene ebizwa ngokuba yi-UBE3A emizimbeni yethu.

Ngamafutshane, le gene ye-`UBE3A` isiyalela ukuba sivelise i-enzyme ebizwa ngokuba yi-ubiquitin protein ligase E3A, enceda inkqubo yethu yemithambo-luvo isebenze. Ukuba le gene yonakele okanye ayikho, iimpawu ze-Angelman syndrome ziyavela.

Ngokwesiqhelo, sifumana iikopi ezimbini zejini nganye – enye ivela kumama wethu, enye ivela kubaba wethu. Kwiinxalenye ezininzi zomzimba wethu, zombini iikopi zejini ethi 'UBE3A' ziyasebenza. Nangona kunjalo, kwezinye iindawo ezithile zobuchopho, yikopi evela kumama wethu kuphela esebenzayo.Ngoko ke, ukuba ngandlela ithile ikopi yale jini ethi `UBE3A` oyifumana kumama wakho yonakele, okanye ukuba ilahlekile, loo malungu engqondo alahlekelwa yikopi esebenzayo yale jini. Kulapho ke ukusebenza kwenkqubo yemithambo-luvo kuchaphazeleka khona kwaye ezi mpawu ziyabonakala.

Ixesha elininzi, oku akuyonto iqhubekayo kwiintsapho . Kubangelwa lutshintsho olungaqhelekanga lwemfuza. Kwezinye iimeko, kunokubangelwa lolunye utshintsho lwemfuza olungaziwayo ukongeza kwimfuza ethi `UBE3A`.

Oogqirha bayixilonga njani le nto ngokuchanekileyo?

Ngokwesiqhelo, iimpawu ze-Angelman Syndrome azibonakali xa umntwana ezalwa. Oogqirha badla ngokuxilonga imeko ephakathi konyaka omnye ukuya kowesine ubudala . Nangona kunjalo, kukho amaxesha apho imeko inokuxilonga ngexesha lokukhulelwa.

Oku ngamanye amaxesha kunokubonwa kwangethuba ngovavanyo olubizwa ngokuba yi -noninvasive prenatal screening (NIPS) ngexesha lokukhulelwa. Uvavanyo lwe-NIPS lukhangela iziqwenga ze-DNA yomntwana egazini likamama kwaye luhlola umngcipheko womntwana wokuba nesifo semfuza.

Ugqirha udla ngokuyikrokrela le meko xa umntwana engaphumeleli ukufezekisa imigangatho yokukhula efanelekileyo ngokweminyaka yakhe . Umzekelo, ukungathethi amazwi akhe okuqala ngexesha okanye ukungaqali ukuhamba. Ukongeza, ugqirha uya kuqwalasela nezinye iimpawu zomntwana.

Ukuqinisekisa ukuxilongwa , kufuneka uvavanyo lwemfuza . Olu vavanyo lunokuchonga utshintsho kwi-UBE3A gene. Ngamanye amaxesha, kunokufuneka uvavanyo olongezelelweyo ukuze kuthintelwe ezinye iimeko ezibangela iimpawu ezifanayo.

Ngaba kungenxa yokuxilongwa okungafanelekanga?

Ewe, ngamanye amaxesha inokuba kukungafumani ngcinga ifanelekileyo, kuba iimpawu ze-Angelman syndrome zifana kakhulu neempawu zezinye iimeko. Umzekelo:

• Isifo se-Autism spectrum
• Umvakalelo yokitazo
• isifo sikaChristianson
• Isifo sikaMowat-Wilson `(isifo sikaMowat-Wilson)`
• Isifo sikaPhelan-McDermid `(isifo sikaPhelan-McDermid)`
• Isifo sikaPitt-Hopkins
• Isifo sikaPrader-Willi

Ngoko ke, uvavanyo lwemfuza kunye nezinye iimvavanyo zibaluleke kakhulu ukuze kufunyanwe isifo ngokuchanekileyo .

Zithini iindlela zonyango zoku?

Akukho nyango lwe-Angelman Syndrome. Nangona kunjalo, kukho unyango oluninzi olunokunceda ukulawula iimpawu zomntwana wakho. Olu nyango lunokwahluka ukusuka kumntwana ukuya komnye, njengoko kungengabo bonke abantu abaneempawu ezifanayo.

Nazi ezinye iindlela zonyango:

• Amayeza okuthintela ukuxhuzula: Abantwana abanesithuthwane bayawadinga la mayeza.
• Unyango lokuthetha nokunxibelelana: Izinto ezinje ngokunceda ukuthetha, ukunceda ukufunda ulwimi lwezandla, kunye nokuqhela ukusebenzisa izixhobo ezikhethekileyo zonxibelelwano.
• Ukungenelela Kwangethuba kunye Nezixhobo Zokufundisa: Iinkqubo ezinceda abantwana bafikelele kwimigangatho yophuhliso kwaye bafezekise iinjongo zemfundo.
• Unyango lomzimba: Lunceda ukoyisa ubunzima bokulinganisela, ukulungelelanisa umzimba, kunye nokuhamba.
• Unyango lomsebenzi: Lunceda umntwana ukuba asebenze ngokuzimela aze enze imisebenzi yemihla ngemihla.
• Izixhobo zokuxhasa: Kusenokufuneka usebenzise izixhasi zomqolo, amaqatha, neenyawo.
• Iindlela ezikhethekileyo zokuncancisa: Izinto ezifana neesuphu ezikhethekileyo zeentsana ezinengxaki yokuncancisa.
• Ukuseka imikhwa emihle yokulala: Ukuziqhelanisa nokulala ngexesha elibekiweyo.
• Amayeza anceda inkqubo yokwetyisa: Amayeza anceda ukutya kuhambe kakuhle emzimbeni.

Ugqirha womntwana wakho uya kugqiba ukuba zeziphi iindlela zonyango ezifanelekileyo kumntwana wakho.

Ungamnyamekela njani umntwana one-Angelman Syndrome?

Xa unyamekela umntwana one-Angelman syndrome, kubaluleke kakhulu ukulandela imiyalelo kagqirha.

• Ukunika amayeza njengoko kuchaziwe.
• Ukuqhuba uvavanyo lophuhliso njengoko kucetyisiwe.
• Ukuthatha inxaxheba kunyango lomzimba, unyango lomsebenzi, kunye nonyango lokuthetha.
• Ukuya kugqirha ngeentsuku ezimiselweyo.

Aba bantwana banokufuna uncedo ngemisebenzi yemihla ngemihla ebomini babo bonke. Iqela lezonyango lomntwana wakho liza kukunceda ngayo yonke into, liphendule imibuzo yakho, kwaye likuxelele ngamaqela enkxaso anokuba luncedo.

Linini ixesha ekufuneka ubone ugqirha ngalo?

Ukuba umntwana wakho une-Angelman syndrome, kufuneka ubonane neqela lakho lezonyango rhoqo ukuqinisekisa ukuba unyango kunye nonyango lusebenza kakuhle.

• Ukuba ubona naziphi na iimpawu ezintsha okanye ukuba uvakalelwa kukuba uphawu olukhoyo luya lusiba mandundu, xelela ugqirha wakho ngoko nangoko.
• Ukuba umntwana wakho unesithuthwane okokuqala , kufuneka umse kwigumbi likaxakeka ngoko nangoko.

Yeyiphi imibuzo ebalulekileyo ekufuneka uyibuze ugqirha?

Wakuba ufumanise ukuba umntwana wakho une-Angelman syndrome, nantsi eminye imibuzo onokuyibuza ugqirha:

• Zeziphi iindlela zonyango ezilungileyo zokulawula iimpawu zomntwana wam?
• Ndingamnceda njani umntwana wam ukuba athethe ngcono ?
• Ukuba ndiceba ukuba nomnye umntwana, ndingacinga ngovavanyo lwemfuza okanye ndicebise ngemfuza.Ngaba ufuna ukukwenza?
• Ndingayicwangcisa njani kakuhle inkxaso umntwana wam aza kuyidinga kwixesha elizayo?
• Ungacebisa iqela lenkxaso?

Ngaba oku kungathintelwa?

I-Angelman syndrome ayinakuthintelwa kuba ibangelwa lutshintsho olungalindelekanga lwemfuza olwenzeka ngexesha lesigaba sokuzalwa komntwana. Ihlala isenzeka ngaphandle kwesizathu esaziwayo.

Akunqabile ukuba abanye abantu bazuze esi sifo njengelifa. Ukuba uceba ukuba nomntwana, licebo elihle ukuthetha nogqirha wakho malunga neengcebiso ngemfuza ukuze uqonde umngcipheko wokuba nomntwana onesimo esinokubangela isifo semfuza okanye utshintsho lwemfuza olunokubangelwa sisifo semfuza.

Uthini wena malunga nobomi balaba bantwana?

Uninzi lwabantu abane-Angelman Syndrome baphila ubomi obuqhelekileyo . Oku kuthetha ukuba umntu onesifo akafi ngaphambi komntu ongenaso. Nangona kunjalo, ubukhali beempawu buyahluka kumntu nomntu. Iingxaki ezibangelwa kukuxhuzula okanye ukwenzakala okukhulu ngenxa yokuwa ngamanye amaxesha zinokuba yingozi ebomini. Iqela lezonyango lomntwana wakho liya kubonelela ngonyango lokuthintela ezi ziganeko kwaye ligcine umntwana wakho ekhuselekile.

Ngoko ke, liza kuba njani ikamva?

Oogqirha baqwalasela izinto ezininzi xa bethetha ngekamva lomntwana wakho. Ungalindela ukulibaziseka ekuhambeni, ekuthetheni, nasekuphuhliseni njengoko umntwana wakho ekhula. Nangona kunjalo, umntwana wakho uya kukwazi ukuthatha inxaxheba kwimisebenzi, ekudlaleni, nasekufundeni nabanye abantwana abaneminyaka yabo.

Abanye abantu abadala abanale meko banokuziphilela bodwa, ngelixa abanye banokufuna uncedo oluxhaswayo njengoko bekhula. Ngoko ke, ugqirha womntwana wakho ngumntu ongcono ukwazi ukuba ulindele ntoni kwiminyaka ezayo.

Kunokuba nzima kwaye kudideke ukufunda ukuba ukuncuma komntwana wakho rhoqo kunye nobuso obonwabileyo ziimpawu zesifo esingaphantsi kwemfuza. Nangona kunjalo, umntwana wakho usenokuba uncumile kwaye wonwabile nangona efunyenwe ene-Angelman Syndrome . Eyona nto ibalulekileyo kukusa umntwana wakho kugqirha rhoqo ukuqinisekisa ukuba uqhubeka ngesantya esifanela iimfuno zakhe. Iqela lezonyango lomntwana wakho liya kuba nawe kuyo yonke inyathelo. Musa ukuthandabuza ukubuza imibuzo ukuze ufunde ngakumbi ngale meko kwaye ufumane ulwazi ngekamva.

Okokugqibela, izinto ekufuneka uzikhumbule

I-Angelman Syndrome sisifo esingaqhelekanga semfuza, kodwa asisoyikisi ubomi. Ukuba umntwana wakho ubonakala evuya kwaye encumile ngalo lonke ixesha, kodwa enengxaki yokulibaziseka kokukhula, enengxaki yokuthetha, okanye yokuhamba, kubalulekile ukuthetha nogqirha ngayo.

• Ukufunyanwa kwangoko kunye nokuqaliswa konyango oluyimfuneko kunceda kakhulu ekuphuculeni umgangatho wobomi bomntwana.
• YomntwanaIzinto ezifana nonyango lokuthetha, unyango lomzimba, kunye nonyango lomsebenzi zinokunceda kakhulu.
• Awuwedwa. Amaqela enkxaso kunye neengcebiso ezivela koogqirha ziya kuba namandla amakhulu kuwe kolu hambo.
• Ulonwabo nokuhleka komntwana wakho zezona zinto zikuthuthuzelayo kakhulu. Khusela olo lonwabo kwaye uzame ukunika umntwana wakho okona kulungileyo. Kubaluleke kakhulu ukuba nesimo sengqondo esihle.

I- Angelman Syndrome, i-Angelman Syndrome, izifo zemfuza, uphuhliso lomntwana, ukulibaziseka kophuhliso, unyango lokuthetha, ukuxhuzula, i-UBE3A gene, ubuso obonwabileyo