I-Angelman Syndrome: Indaba Engemuva Kokumamatheka Kwengane Yakho

Ingabe ingane yakho encane ihlala imomotheka futhi ijabule? Ingabe ngezinye izikhathi ishaya izandla zayo ukuze ibonise injabulo yayo? Cishe uzizwa kahle uma uyibona. Kodwa, bewazi ukuthi ngezinye izikhathi ngemuva kobuso obujabule kangaka, kungase kube nesifo esingavamile sofuzo esithinta ukukhula kwayo, ukukhuluma, nokuhamba kwayo? Namuhla, sizoxoxa ngesinye salezo zimo, i-Angelman Syndrome.

Iyini i-Angelman Syndrome?

Kalula nje, i-Angelman Syndrome iyisifo esingavamile kakhulu esibangelwa izakhi zofuzo . Singathikameza ukukhula kwengane yakho, ukukhuluma kwayo kanye nokuhamba kwayo. Ezinye izingane zingase zibe nesifo sokuwa.

Kodwa okukhethekile ngalokhu ukuthi izingane ezinalesi simo zivame ukubonakala zijabule kakhulu futhi zimomotheka . Zimomotheka kakhulu, zihleke kakhulu, futhi ngezinye izikhathi zenza "izinyathelo zokuphampa izandla" uma zijabule. Uma ubona lokhu, nawe uzizwa ujabule, futhi ungase ucabange, 'O, ingabe le njabulo enganeni yami ingaba uphawu lokugula?'' Kungumzwelo ongajwayelekile kancane, akunjalo?

Lesi simo asisongeli impilo, okusho ukuthi asinawo umthelela omkhulu empilweni yengane yakho. Kodwa-ke, kungaba yinto ekhathazayo kubazali abasha. Njengoba ingane yakho ikhula, ingase ibhekane nezinselele zokuhamba, ukukhuluma, kanye nokukhula. Kodwa-ke, kunezindlela zokwelapha ezinhle ezingakusiza ukuthi uphathe lezi zimpawu futhi uphile impilo evamile.

I-Angelman Syndrome ingavamile kangakanani?

Lesi yisimo esingavamile kakhulu. Uma sikhulunywa nje, sithinta cishe ingane eyodwa kwezingu-12,000 kuya kwezingu-20,000 .

Sazi kanjani ukuthi ingane yethu inalesi simo? (Izimpawu)

Izimpawu zezingane ezine-Angelman Syndrome zingahluka kuye ngomuntu nomuntu. Lezi zimpawu zingashintsha futhi ngokweminyaka. Ake sibheke izimpawu eziyinhloko ezingabonakala.

Izimpawu ezingabonakala ebuntwaneni

Kungenzeka ukuthi wake waphawula izinto ezithile ngesikhathi ingane yakho isencane. Isibonelo:

• Ukulibaziseka kokukhula: Kungase kungakwazi ukwenza izinto ngesivinini esifanayo nezinye izingane. Isibonelo, ukungakhulumi amagama azo okuqala lapho sezinonyaka owodwa ubudala.
• Ubunzima bokuncelisa: Ingane ingase ibe nobunzima bokubambelela ebeleni.
• Ukuhlala ujabule futhi umamatheka: Lena yinto yokuqala abantu abaningi abayiqaphelayo. Ukuhlala umamatheka, ukushaya izandla uma ujabule.
• Izinkinga zokulala: Kungase kube nezinkinga ngemikhuba yokulala.

Izimpawu ezingabonakala uma ukhula kancane

Njengoba ingane ikhula kancane, cishe eminyakeni emibili noma emithathu ubudala, kungase kuvele ezinye izimpawu:

• Ukukhubazeka kwengqondo: Kungase kubonakale ukuthi kungenzeka ukuthi kukhona ukubambezeleka kwamakhono okufunda.
• Izinkinga zokukhuluma: Ezinye izingane zikwazi ukukhuluma amagama ambalwa kuphela, kanti ezinyeUngase ungakwazi ukukhuluma igama (okungenalo izwi).
• Izinkinga Zokuhamba: Ungase uhambe ngendlela exakile, ebanzi, ngaphandle kokulinganisela okufanele . Lokhu ngezinye izikhathi kubizwa ngokuthi i-ataxia (izinkinga zokulinganisela noma ukuhlanganisa).
• Ukuquleka: Ukuquleka kungase kuqale phakathi kweminyaka emibili neyimithathu.
• Izinguquko zemisipha: Kungase kube nokwanda kwemisipha ezingalweni nasemilenzeni, noma ukwehla kwemisipha esiqwini.
• I-Scoliosis: Ukugoba komgogodla kungabonakala.
• Izinkinga zesistimu yokugaya ukudla: Kungase kube nokuqunjelwa noma isifo sokungakhululeki kwesisu (GERD) .
• Izinkinga zamehlo: Izinto ezifana ne -nystagmus , i-strabismus , kanye ne-photophobia .
• Ukushintsha kombala wesikhumba (i-hypopigmentation): Umbala wesikhumba ungase unciphe kwezinye izindawo.

Izici ezikhethekile zokubukeka kobuso

Lezi zingane nazo zinezici ezithile ezikhethekile ekubukekeni kwazo kobuso, kodwa lezi azifani kuwo wonke umuntu.

• Ugebhezi olufushane nolubanzi (i-brachycephaly)
• Ulimi olukhulu kunoluvamile (i-macroglossia)
• Ikhanda elincane kunelivamile (i-microcephaly)
• Ukuvela komhlathi ongezansi (i-mandibular prognathia)
• Umlomo obanzi
• Amazinyo avulekile kakhulu

Lezi zimpawu zibonakala kakhulu njengoba ukhula.

Kungani lokhu kwenzeka? Yiziphi izizathu?

Kulungile, manje ake sibone ukuthi yini ebangela i-Angelman Syndrome. Lesi yisimo sofuzo . Sibangelwa ushintsho ku-gene ebizwa ngokuthi i-UBE3A emizimbeni yethu.

Kalula nje, lesi sakhi sofuzo esithi 'UBE3A' sisiyala ukuba sikhiqize i-enzyme ebizwa ngokuthi i-ubiquitin protein ligase E3A, esiza uhlelo lwethu lwezinzwa ukuthi lusebenze. Uma lesi sakhi sofuzo sonakele noma singekho, kuvela izimpawu ze-Angelman syndrome.

Ngokuvamile, sithola amakhophi amabili esakhi sofuzo ngasinye – esisodwa sivela kumama wethu, esinye sivela kubaba wethu. Ezicutshini eziningi zomzimba wethu, womabili amakhophi alesi sakhi sofuzo esithi 'UBE3A' ayasebenza. Kodwa-ke, kwezinye izindawo ezithile zobuchopho, yikhophi evela kumama wethu kuphela esebenzayo.Ngakho-ke, uma ngandlela thile ikhophi yalesi sakhi sofuzo esithi 'UBE3A' osithola kunina sonakele, noma uma silahlekile, khona-ke lezo zingxenye zobuchopho zilahlekelwa ikhophi esebenzayo yalesi sakhi sofuzo. Yilapho ukusebenza kwesimiso sezinzwa kuthinteka khona futhi lezi zimpawu zivela.

Esikhathini esiningi, lokhu akuyona into eyenzeka emindenini . Kubangelwa ushintsho olungahleliwe lwezakhi zofuzo. Kwezinye izimo, kungase kubangelwe olunye ushintsho lwezakhi zofuzo olungakatholakali ngaphezu kwezakhi zofuzo ze-`UBE3A`.

Odokotela bakuthola kanjani lokhu ngokunembile?

Ngokuvamile, izimpawu ze-Angelman Syndrome azibonakali lapho umuntu ezalwa. Odokotela bavame ukuhlonza lesi simo phakathi konyaka owodwa kuya kwemine ubudala . Kodwa-ke, kunezikhathi lapho lesi simo singahlolwa khona ngesikhathi sokukhulelwa.

Lokhu ngezinye izikhathi kungatholakala kusenesikhathi ngokuhlolwa okubizwa ngokuthi ukuhlolwa kokukhulelwa okungahlaseli (NIPS) ngesikhathi sokukhulelwa. Ukuhlolwa kwe-NIPS kubheka izingcezu ze-DNA yomntwana egazini likamama futhi kuhlole ingozi yomntwana yokuba nesimo sofuzo.

Udokotela uvame ukusola lesi simo lapho ingane yehluleka ukuhlangabezana nezigaba zokukhula ezifanele iminyaka yayo . Isibonelo, ukungakhulumi amazwi ayo okuqala ngesikhathi noma ukungaqali ukuhamba. Ngaphezu kwalokho, udokotela uzonaka nezinye izimpawu zengane.

Ukuqinisekisa ukuxilongwa , kudingeka ukuhlolwa kofuzo . Lokhu kuhlolwa kungakhomba izinguquko ku-UBE3A gene. Ngezinye izikhathi, kungadingeka ukuhlolwa okwengeziwe ukuze kukhishwe ezinye izimo ezibangela izimpawu ezifanayo.

Kungaba ukuhlonza okungalungile?

Yebo, ngezinye izikhathi kungaba ukuhlonza okungalungile, ngoba izimpawu ze-Angelman syndrome zifana kakhulu nezimpawu zezinye izimo. Isibonelo:

• Isifo se-Autism spectrum
• Ukukhubazeka kobuchopho
• Isifo sikaChristianson
• I-Mowat-Wilson syndrome `(i-Mowat-Wilson syndrome)`
• I-Phelan-McDermid syndrome `(i-Phelan-McDermid syndrome)`
• I-Pitt-Hopkins syndrome
• Isifo sikaPrader-Willi

Ngakho-ke, ukuhlolwa kofuzo kanye nokunye ukuhlolwa kubaluleke kakhulu ukuze kutholakale ukuxilongwa okunembile .

Yiziphi izindlela zokwelapha lokhu?

Akukho ukwelashwa kwe-Angelman Syndrome. Kodwa-ke, kunezindlela eziningi zokwelapha ezingasiza ukulawula izimpawu zengane yakho. Lezi zindlela zokwelapha zingahluka kuye ngengane, njengoba kungebona bonke abantu abanezimpawu ezifanayo.

Nazi ezinye izindlela zokwelapha:

• Imithi yokuvimbela ukuxhuzula: Izingane ezine-disorder zidinga le mithi.
• Ukwelapha ngenkulumo nokuxhumana: Izinto ezinjengokusiza ukukhuluma, ukusiza ukufunda ulimi lwezandla, nokujwayela ukusebenzisa amadivayisi okuxhumana akhethekile.
• Ukungenelela Kwasekuqaleni kanye Nezinsizakusebenza Zemfundo: Izinhlelo ezisiza izingane ukufinyelela izigaba zokukhula nokufeza imigomo yemfundo.
• Ukwelashwa ngokomzimba: Kusiza ukunqoba ubunzima bokulinganisela, ukuhambisana, kanye nokuhamba.
• Ukwelashwa Komsebenzi: Kusiza ingane ukuthi isebenze ngokuzimela futhi yenze imisebenzi yansuku zonke.
• Amadivayisi okusekela: Kungase kudingeke usebenzise ama-braces emhlane wakho, emaqakaleni nasezinyaweni.
• Izindlela zokuncelisa ezikhethekile: Izinto ezifana nesobho elikhethekile lezingane ezinenkinga yokuncelisa.
• Ukusungula imikhuba emihle yokulala: Ukujwayela ukulala ngesikhathi esibekiwe.
• Imithi esiza uhlelo lokugaya ukudla: Imithi esiza ukudla ukuthi kuhambe kahle emzimbeni.

Udokotela wengane yakho uzonquma ukuthi yiziphi izindlela zokwelapha ezifanele kakhulu ingane yakho.

Ungayinakekela kanjani ingane ene-Angelman Syndrome?

Uma unakekela ingane ene-Angelman syndrome, kubaluleke kakhulu ukulandela imiyalelo kadokotela.

• Ukunikeza imithi njengoba kuyalelwe.
• Ukwenza ukuhlolwa kwentuthuko njengoba kunconyiwe.
• Ukubamba iqhaza ekwelashweni ngokomzimba, ekwelashweni ngokomsebenzi, kanye nasekwelashweni kokukhuluma.
• Ukuya kudokotela ngezinsuku ezihleliwe.

Lezi zingane zingadinga usizo ngemisebenzi yansuku zonke empilweni yazo yonke. Ithimba lezokwelapha lengane yakho lizokusiza ngakho konke, liphendule imibuzo yakho, futhi likutshele ngamaqembu okusekelana angase abe usizo.

Udinga ukubona udokotela ngasiphi isikhathi?

Uma ingane yakho ine-Angelman syndrome, kufanele ubonane nethimba lakho lezokwelapha njalo ukuqinisekisa ukuthi ukwelashwa nokwelashwa kusebenza kahle.

• Uma ubona noma yiziphi izimpawu ezintsha noma uma unomuzwa wokuthi uphawu olukhona luya luba lubi kakhulu, tshela udokotela wakho ngokushesha.
• Uma ingane yakho inesifo sokuwa okokuqala , kufanele uyiyise ekamelweni lezimo eziphuthumayo ngokushesha.

Yimiphi imibuzo ebalulekile okufanele uyibuze udokotela?

Uma usuthole ukuthi ingane yakho ine-Angelman syndrome, nansi eminye imibuzo ongayibuza udokotela:

• Yiziphi izindlela zokwelapha ezingcono kakhulu zokulawula izimpawu zengane yami?
• Ngingamsiza kanjani ingane yami ukuthi ikhulume kangcono ?
• Uma ngihlela ukuba nomunye umntwana, ngingacabangela ukuhlolwa kwezakhi zofuzo noma ukwelulekwa ngezakhi zofuzo.Uyafuna ukukwenza?
• Ngingakuhlelela kanjani kangcono ukwesekwa ingane yami ezokuthola esikhathini esizayo?
• Ungancoma iqembu lokusekelana?

Ingabe lokhu kungavinjelwa?

I-Angelman syndrome ayinakuvinjelwa ngoba ibangelwa izinguquko zofuzo ezingahleliwe ezenzeka ngesikhathi sesigaba somntwana. Ivame ukwenzeka ngaphandle kwesizathu esaziwayo.

Akuvamile kakhulu ukuthi abanye abantu bangase bazuze lesi simo njengefa. Uma uhlela ukuba nomntwana, kuwumqondo omuhle ukukhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo ukuze uqonde ingozi yokuba nomntwana onesimo esingase sibangelwe yisimo sofuzo noma ushintsho lofuzo olungazuzwa njengefa.

Uthini ngokuphila kwalezi zingane?

Iningi labantu abane-Angelman Syndrome liphila isikhathi esijwayelekile . Lokhu kusho ukuthi umuntu onalesi simo akafanga ngaphambi komuntu ongenaso. Kodwa-ke, ubukhulu bezimpawu buyahlukahluka kuye ngomuntu. Izinkinga ezivela ekuqulekeni okukhulu noma ukulimala okukhulu ngenxa yokuwa ngezinye izikhathi zingaba yingozi empilweni. Ithimba lezokwelapha lengane yakho lizohlinzeka ngokwelashwa ukuvimbela lezi zenzakalo nokugcina ingane yakho iphephile.

Ngakho-ke, ikusasa liyoba njani?

Odokotela bacabangela izinto eziningi lapho bekhuluma ngekusasa lengane yakho. Ungalindela ukubambezeleka kokuhamba, ukukhuluma, kanye nokukhula njengoba ingane yakho ikhula. Kodwa-ke, ingane yakho izokwazi ukuhlanganyela emisebenzini, ukudlala, nokufunda nezinye izingane ezingontanga yayo.

Abanye abantu abadala abanalesi simo bangaphila bodwa, kanti abanye bangadinga ukunakekelwa okusekelwayo njengoba bekhula. Ngakho-ke, udokotela wengane yakho ungumuntu ongcono kakhulu wokwazi ukuthi yini ongayilindela eminyakeni ezayo.

Kungaba nzima futhi kuqede amandla ukufunda ukuthi ukumamatheka kwengane yakho njalo kanye nobuso obujabule empeleni kuyizimpawu zesimo sofuzo esingaphansi. Kodwa-ke, ingane yakho ingase isalokhu imamatheka futhi ijabule ngisho nangemva kokuthola ukuthi ine-Angelman Syndrome . Into ebaluleke kakhulu ukuyisa ingane yakho kudokotela njalo ukuqinisekisa ukuthi ithuthuka ngesivinini esifanela izidingo zayo. Ithimba lezokwelapha lengane yakho lizoba nawe kuzo zonke izinyathelo. Unganqikazi ukubuza imibuzo ukuze ufunde kabanzi ngalesi simo nokuthola ulwazi ngekusasa.

Okokugcina, izinto okufanele uzikhumbule

I-Angelman Syndrome iyisifo esingavamile esibangelwa izakhi zofuzo, kodwa asisona isifo esisongela impilo. Uma ingane yakho ibonakala ijabule futhi imomotheka ngaso sonke isikhathi, kodwa inokukhubazeka kokukhula, ubunzima bokukhuluma, noma izinkinga zokuhamba, kubalulekile ukukhuluma nodokotela ngakho.

• Ukutholwa kusenesikhathi kanye nokuqaliswa kokwelashwa okudingekayo kuhamba ibanga elide ekuthuthukiseni izinga lempilo yengane.
• KumntwanaIzinto ezifana nokwelashwa ngenkulumo, ukwelashwa ngokomzimba, kanye nokwelashwa ngokomsebenzi kungasiza kakhulu.
• Awuwedwa. Amaqembu okusekela kanye nezeluleko ezivela kodokotela kuzoba amandla amakhulu kuwe kulolu hambo.
• Injabulo nokuhleka kwengane yakho kuyinduduzo yakho enkulu. Vikela leyo njabulo bese uzama ukunikeza ingane yakho okungcono kakhulu. Kubaluleke kakhulu ukuba nesimo sengqondo esihle.

I- Angelman Syndrome, i-Angelman Syndrome, izifo zofuzo, intuthuko yengane, ukubambezeleka kokukhula, ukwelashwa kokukhuluma, ukuxhuzula, i-UBE3A gene, ubuso obujabule