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October 10, 2025
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I-Rett syndrome iyisifo esingavamile se-genetic esithinta ikakhulukazi amantombazane futhi sibangela izinkinga ekuthuthukisweni kobuchopho, ukuhamba, nokuxhumana. Leli simo sivame ukuvela phakathi neminyaka emibili yokuqala yokuphila, ngemuva kwesikhathi sokuthuthuka okubonakala kuvame.
Abantwana abaningi abane-Rett syndrome bathuthuka ngokujwayelekile izinyanga ezingu-6 kuya kwezingu-18 zokuqala. Bese beqala ukulahlekelwa amakhono abengakwazi ukuwafunda, njengokuhamba, ukukhuluma, noma ukusebenzisa izandla zabo ngenhloso. Nakuba lokhu kungase kubonakale kukhulu emindenini, ukuqonda i-Rett syndrome kukusiza ukwazi ukuthi yini okulindelekile nokuthi unganikeza kanjani ukwesekwa okungcono kakhulu okungenzeka.
I-Rett syndrome iyisifo sokuthuthuka kobuchopho esibangelwa izinguquko ku-gene ethile ebizwa nge-MECP2. Le gene inikeza imiyalo yokwenza i-protein ebalulekile ekusebenzeni nasekuthuthukisweni kobuchopho obuvamile.
Leli simo sithinta cishe amantombazane kuphela ngoba i-gene itholakala ku-chromosome ye-X. Amantombazane anama-chromosome amabili e-X, ngakho ngezinye izikhathi angakwazi ukubuyisela ingxenye ye-gene eyonakele. Abantwana abafana, abanalo i-chromosome elilodwa le-X, ngokuvamile abaphili naleli shintsho le-genetic.
I-Rett syndrome ithonya cishe intombazane eyodwa ku-10,000 kuya ku-15,000 emhlabeni jikelele. Kubhekwa njengomunye wemibangela evamile yokukhubazeka kakhulu kobuchopho ebuntombazane. Leli simo lachazwa okokuqala uDkt. Andreas Rett ngo-1966, nakuba lalingaziwa kakhulu kwaze kwaba ngeminyaka yama-1980.
Izimpawu ze-Rett syndrome ngokuvamile zithuthuka ngezigaba, kanti abantwana abaningi babonisa izimpawu phakathi kwezinyanga ezingu-6 neminyaka engu-2 ubudala. Isipiliyoni ngasinye somntwana singahluka, kepha kunezibonelo ezivamile ezisiza odokotela ukuthi baqonde leli simo.
Izimpawu ezibonakala kakhulu zihlanganisa:
Izimpawu ezingavamile kepha ezingase zenzeke zingase zihlanganise ukugaya amazinyo, izandla nezinyawo ezibandayo, nezikhathi zokukhala okukhulu noma ukuklabalasa. Abanye abantwana bangase baphile nezinkathi zokubuka emehlweni okukhulu noma babonakale 'bevukile' futhi bahlanganyele ngezikhathi ezithile.
Kubalulekile ukukhumbula ukuthi nakuba lezi zimpawu zingase zibe nzima, abantwana abaningi abane-Rett syndrome baqhubeka befunda futhi bathuthuke ngendlela yabo. Bavame ukugcina ikhono labo lokuqonda nokuxhumana nabathandekayo, ngisho noma bengenakuziveza ngomlomo.
I-Rett syndrome ngokuvamile ihlukaniswe izinhlobo ezimbili eziyinhloko ngokuya ngezinguquko ezithile ze-genetic nokuthi izimpawu zivele nini. Ukuqonda lezi zinhlobo kusiza odokotela ukuba banikeze ukunakekelwa okuqondiswe ngcono futhi kusize imindeni ukwazi ukuthi yini okulindelekile.
I-Rett syndrome evamile iyifomu elivamile kakhulu, elikhiqiza cishe ama-85% ezimo. Abantwana abaneliloli hlobo ngokuvamile bathuthuka ngokujwayelekile izinyanga ezingu-6 kuya kwezingu-18 zokuqala, bese beqala ukulahlekelwa amakhono abengakwazi ukuwafunda. Babonisa ukunyakaza okuqondile kwezandla kanye nezinye izimpawu ezivamile ezichazwe ngenhla.
I-Rett syndrome engavamile ihlanganisa izinhlobo eziningi ezingalandeli iphethini evamile. Lezi zingase zihlanganise i-variant elondoloze inkulumo (lapho amakhono olulimi athile ehlala khona), i-variant yokuhlupheka kwasekuqaleni (lapho ukuhlupheka kuqala ngokushesha), noma i-variant yokuqala (lapho izimpawu zikhona kusukela ekuzalweni). Lezi zinhlobo zingase zibe zinobukhulu noma zinzima kune-Rett syndrome evamile.
Kukhona nesimo esibizwa nge-Rett-like syndrome, esabelana ngezici ezithile ne-Rett syndrome kepha sibangelwa izinguquko ku-genes ezahlukene. Lokhu kusiza odokotela ukuqonda ukuthi izimpawu ezifanayo zingaba nezimbangela ezihlukahlukene eziyisisekelo.
I-Rett syndrome ibangelwa izinguquko (i-mutations) ku-MECP2 gene, etholakala ku-chromosome ye-X. Le gene inikeza imiyalo yokwenza i-protein esiza ukulawula ezinye i-genes ebuchosheni.
Ezimweni eziningi, cishe i-99% yesikhathi, i-genetic change yenzeka ngokungalindelekile. Lokhu kusho ukuthi ayithathwanga kubazali kepha kwenzeka ngokungahleliwe ngesikhathi sokwenziwa kwamaseli okuzala noma ekuqaleni kokuthuthuka kombungu. Abazali abayikubangela leli simo, futhi ngokuvamile ayikho into ababengayenza ukuyivimbela.
Kungenzeka kakhulu, ngaphansi kwe-1% yezimo, i-Rett syndrome ingadluliselwa umama othatha inguquko ye-gene. Omama laba ngokuvamile banezimpawu ezilula kakhulu noma azinazo izimpawu ngenxa yendlela ebizwa nge-X-inactivation, lapho i-chromosome elilodwa le-X livaliwe ngokungahleliwe kuwo wonke amaseli.
I-MECP2 protein ngokuvamile iyasiza ukulawula ukuthi ezinye i-genes zivulwa noma zivaliwe nini kumaseli ebuchosheni. Uma le protein ingasebenzi kahle, iphazamisa ukuthuthuka kobuchopho obuvamile nokusebenza, okuholela ezimpawu ze-Rett syndrome.
Kufanele uxhumane nodokotela womntanakho uma uqaphela ukulahleka kwamakhono atholakele ngaphambili noma izigaba zokuthuthuka. Ukuqaphela kwasekuqaleni kungasiza ukuqinisekisa ukuthi umntanakho uthola ukwesekwa nokukhathalelwa okufanele ngokushesha okungenzeka.
Izimpawu ezithile ezidinga ukunakekelwa kwezokwelapha ngokushesha zihlanganisa ukulahleka kokusebenzisa izandla okuqondile, ukwanda kancane kokukhula kwekhhanda, noma ukulahleka kwamakhono olulimi umntanakho esevele enalo. Uma umntanakho eyeka ukubuka emehlweni, elahlekelwa isithakazelo emidlalweni, noma eqala ukubonisa ukunyakaza okuphindaphindayo kwezandla, lezi yizimpawu ezibalulekile okufanele uzixoxe nodokotela wakho.
Kufanele futhi ufune ukunakekelwa kwezokwelapha uma umntanakho ehlupheka ngokuphefumula okungavamile, ukuhlupheka, noma ukuphazamiseka kokulala okukhulu. Izinkinga zokudla, izinguquko ezinkulu ethoni yemisipha, noma ukubuyela emuva emakhonweni okuhamba njengokuhlala noma ukuhamba kudinga ukuxilongwa kwezokwelapha.
Ungalindi uma ukhathazekile ngokuthuthuka komntanakho. Themba izinzwa zakho njengomzali. Izinsizakalo zokungenelela kwasekuqaleni zingenza umehluko omkhulu ekusizeni abantwana abane-Rett syndrome ukuba bafinyelele ikhono labo eliphelele, ngisho nangaphambi kokuba kwenziwe ukuxilongwa okuqinisekisiwe.
Isisekelo esiyinhloko sengozi ye-Rett syndrome ukuba ngowesifazane, njengoba leli simo sithinta cishe amantombazane kuphela. Lokhu kwenzeka ngoba i-MECP2 gene itholakala ku-chromosome ye-X, futhi amantombazane anama-chromosome amabili e-X kuyilapho abafana banalo elilodwa kuphela.
Iminyaka iyisici esinye okufanele sicatshangelwe. Izimo eziningi ze-Rett syndrome zixilongwe phakathi kwezinyanga ezingu-6 neminyaka engu-4 ubudala, ngokuvamile lapho ukubuyela emuva kokuthuthuka kuqala ukubonakala. Leli simo alivamile ukuhlala lingaziwa ngaphezu kobutshana.
Umlando womndeni udlala indima encane kakhulu, njengoba izimo eziningi zenzeka ngokungahleliwe. Noma kunjalo, uma umama ethwala inguquko ye-MECP2 gene, kunethuba elingu-50% lokudlulisela kumntwana ngamunye. Ngisho noma kunjalo, ubukhulu bungase buhluke kakhulu.
Ayikho izici zengozi zemvelo ze-Rett syndrome. Leli simo alibangelwa yilutho abazali abalwenzile noma abangazange balwenze ngesikhathi sokukhulelwa, futhi alihlobene nezifo, ukulimala, noma ezinye izici zangaphandle. Lokhu kungase kunikeze induduzo emindenini engase izibuze ukuthi ngabe bangalivimba yini leli simo.
Nakuba i-Rett syndrome ngokwayo iyinkinga ephambili, izinkinga eziningi zingase zithuthuke ngokuhamba kwesikhathi ezidinga ukunakekelwa nokunakekelwa okuqhubekayo. Ukuqonda lokhu kusiza imindeni ukuba zilungiselele futhi zifune ukwesekwa okufanele.
Izingozi ezivamile ezibhekene nemindeni eminingi zihlanganisa:
Izingozi ezingavamile kepha ezinzima zingase zihlanganise i-gastroesophageal reflux enzima, izinkinga zesibindi, noma ukufa okungaqondakali ngokuzumayo, nakuba le ngozi yokugcina ingavamile. Abanye abantu bangase bathuthukise ukukhathazeka noma izinselele ezihlobene nomoya njengoba bekhula.
Izindaba ezinhle ukuthi ngokunakekelwa kwezokwelapha okufanele nokusekelwa, izinkinga eziningi zingaphathwa kahle. Ukulandelela njalo neqembu lokunakekelwa elihlanganisiwe kungasiza ukuvimbela izinkinga noma ukuzibamba ekuqaleni lapho ukwelashwa kusebenza kakhulu.
Ukuxilongwa kwe-Rett syndrome kuhilela ukubuka ngokucophelela ukuthuthuka komntanakho nokulingwa okuqondile ukuqinisekisa imbangela ye-genetic. Inqubo ngokuvamile iqala lapho odokotela beqaphela iphethini evamile yokuqala ukuthuthuka okuvamile okulandelelwa ukubuyela emuva.
Udokotela wakho uzoqala ngokuthatha umlando wezokwelapha ophelele futhi enze ukuhlolwa komzimba okuphelele. Bazofuna ukwazi ngokuthuthuka kwasekuqaleni komntanakho, ukuthi izimpawu ziqale nini, nokuthi zithuthuke kanjani ngokuhamba kwesikhathi. Lokhu kubasiza ukuthi baqonde iphethini yezinguquko.
Ukuxilongwa okuqinisekisiwe kuvela ekuhlolweni kwe-genetic, ikakhulukazi ukubuka izinguquko ku-MECP2 gene. Lokhu ngokuvamile kwenziwa ngokuhlolwa okulula kwegazi. Ukuhlolwa kwe-genetic kuqinisekisa ukuxilongwa cishe ku-95% yamantombazane anezimpawu ze-Rett syndrome ezivamile.
Izivivinyo ezengeziwe zingase zihlanganise izifundo zokubonisa ubuchopho njenge-MRI, evame ukubonakala ivamile ezigabeni zokuqala, kanye nokuhlolwa kwe-EEG ukuhlola imisebenzi yokuhlupheka. Udokotela wakho angase futhi akhuthaze ukuhlolwa ochwepheshe njengoo-neurologists, i-geneticists, noma odokotela bezingane abathuthukayo ukuze bathole isithombe esiphelele sesimo somntanakho.
Okwamanje, ayikho indlela yokwelapha i-Rett syndrome, kepha izindlela ezahlukene zokwelapha zingasiza ekulawuleni izimpawu nokwenza impilo ibe ngcono. Umgomo ukusisiza umntanakho ukuba afinyelele ikhono lakhe eliphelele ngenkathi emgcina ephilile futhi ezolile.
Ukwelashwa ngokuvamile kuhilela indlela eqondiswe yiqembu labochwepheshe abasebenza ndawonye. Lokhu kungase kuhlanganise odokotela be-neurologists ukulawula ukuhlupheka, odokotela be-orthopedic ngezinkinga zamathambo nomgogodla, kanye nochwepheshe bokusekelwa kokuthuthuka. Ukuba neqembu elihlanganisiwe kuqinisekisa ukuthi zonke izici zempilo yomntanakho zixazululwe.
Izinsizakalo zezokwelapha zigxile ekulawuleni izimpawu ezithile:
Izinsizakalo zokwelapha zidlalela indima ebalulekile ekugcineni umsebenzi nokuzola. I-Physical therapy iyasiza ekugcineni ukunyakaza nokugwema i-contractures. I-Occupational therapy igxile emakhonweni okuphila kwansuku zonke nasemsebenzini wezandla. I-Speech therapy, nakuba ukubuyiselwa kolwimi kunqanyuliwe, ingasiza ekuxhumaneni ngezindlela ezihlukile.
Ucwaningo lwamuva lubonise ithemba ngezinye izinsizakalo ezintsha. I-Gene therapy nezinye izindlela eziqondiswe ngqo zifundwa, zinikeza ithemba lezinsizakalo ezisebenza kangcono ngekusasa.
Ukudala indawo yasekhaya enesekelo kungenza umehluko omkhulu ekuzoleneni nasekuthuthukeni komntanakho. Ukulungiswa okulula nemikhuba ingasiza umntanakho ukuba akhule ngenkathi iyancipha ukucindezeleka komndeni wonke.
Imikhuba yansuku zonke yokunakekelwa kufanele igxile ekugcineni amakhono omntanakho ngenkathi ihambisana nezinselele zayo. Lokhu kuhlanganisa ukumiswa kwesikhathi esiqondile sokudla ngokudla okulula ukugwinya, ukudala izindawo ezithulile ezunciphisa ukukhuthazwa ngokweqile, nokugcina imikhuba yokulala eqondile ukuze kusize ngokuphazamiseka kokulala.
Ukwenza izinguquko zokuphepha endlini yakho kuyizinto ezibalulekile okufanele uzicabangele. Lokhu kungase kuhlanganise ukufaka iziqeshana ezinobukhulu, ukubopha ifenisha engase iwele, nokufaka amasango okuphepha uma umntanakho ekwazi ukuhamba. Uma umntanakho ehlupheka, cabanga ngezinto zokulinda futhi uqinisekise ukuthi amalungu omndeni ayazi ukunakekelwa okuyisisekelo kokulwa nokuhlupheka.
Izindlela zokuxhumana zingakusiza uhlale uxhumene nomntanakho. Abantwana abaningi abane-Rett syndrome baqonda okuningi kunalokho abangakwazi ukuveza. Sebenzisa ulimi oluqondile, banike isikhathi sokuphendula, futhi ubuke izimpawu ezingaphandle njengokunyakaza kwamehlo noma imizwa yobuso. Imindeni eminingi ithola impumelelo ngezinsiza zokuxhumana noma amabhodi ezithombe.
Ungakhohlwa ukunakekela wena namanye amalungu omndeni. Ukunakekela umntwana onaleli simo kungase kube nzima ngokomzimba nangokomzwelo. Funani ukusekelwa kwamanye imindeni, cabanga ngezinketho zokunakekelwa okukhulu, futhi khumbula ukuthi ukuthatha amaholide kuzokusiza ukuba unikeze ukunakekelwa okungcono esikhathini eside.
Ukulungiselela ukuya kudokotela kungasiza ukuqinisekisa ukuthi uthola okuningi ngesikhathi sakho nabaphakeli bezempilo. Ukulungiselela okuhle kusiza odokotela ukuthi baqonde kangcono isimo somntanakho futhi benze izinqumo zokwelapha ezinolwazi.
Ngaphambi kokubonisana kwakho, bhala phansi noma yiziphi izinguquko ozibonile ezimpawu zomntanakho, ukuziphatha, noma amakhono. Gcina idayari elula yezinto njengokuthi ukuhlupheka kuvame kangakanani, izindlela zokulala, imikhuba yokudla, noma ukuziphatha okusha. Lolu lwazi lusiza odokotela ukulandelela intuthuko yomntanakho futhi balungise ukwelashwa njengoba kudingeka.
Letha uhlu lwemithi yamanje, kufaka phakathi izilinganiso nokuthi inikezwa nini. Faka noma yiziphi izongezo, imithi yokuthengwa ngaphandle kwesikripthi, noma izinsizakalo ezihlukile ozisebenzisayo. Lokhu kusiza ukuvimbela ukusebenzisana okubi kwemithi futhi kuqinisekisa ukuthi zonke izinsizakalo zisebenza ndawonye ngokuphumelelayo.
Lungiselela imibuzo yakho kusengaphambili. Bhala phansi ukukhathazeka kwakho okubaluleke kakhulu kuqala, njengoba isikhathi sokubonisana singase sibe sinqanyuliwe. Buza ngezimpawu ezithile ezikukhathazayo, izinketho zokwelapha, noma izinsiza zokusekelwa okwengeziwe. Unganqikazi ukucela incazelo uma amagama ezokwelapha ekukhathazayo.
Cabanga ukuletha ilungu lomndeni noma umngani ukusekela, ikakhulukazi ngezikhathi ezibalulekile zokubonisana. Bangakusiza ukuba ukhumbule ulwazi oluxoxwe futhi banikeze ukusekelwa ngokomzwelo. Imindeni eminingi ikuthola kuwusizo ukurekhoda izingxenye ezibalulekile yengxoxo (ngemvume) ukuze ibuyekeze kamuva.
I-Rett syndrome iyisimo esinzima, kepha ukuyiqonda kunika amandla imindeni ukuba inikeze ukunakekelwa nokusekelwa okungcono kakhulu okungenzeka. Nakuba leli simo libangela ukukhubazeka okukhulu, abantwana abaningi abane-Rett syndrome baqhubeka befunda, bekhula, futhi benza ubuhlobo obukhulu nemindeni yabo.
Into ebaluleke kakhulu okufanele uyikhumbule ukuthi umntanakho usengumntanakho, kungakhathaliseki ukuxilongwa kwakhe. Bangase baxhumane ngokuhlukile futhi badinge ukwesekwa okwengeziwe, kepha bavame ukuqonda futhi bazizwe okuningi kunalokho abangakwazi ukuveza. Uthando lwakho, isineke, nokukhuthaza kwenza umehluko omkhulu ekukhuleni kwabo.
Ucwaningo lwe-Rett syndrome luqhubeka luthuthuka, ngezinsizakalo ezintsha ezifundwa futhi zithuthukiswa. Nakuba singenalona lokwelapha okwamanje, ithemba liqhubeka lithuthuka njengoba sifunda okuningi ngaleli simo futhi sithuthukisa izindlela ezinhle zokulawula izimpawu zalo.
Khumbula ukuthi awudingi ukuhamba ngale ndlela wedwa. Amaqembu okusekela, amaqembu ezokwelapha, nezinsiza ezihlukahlukene zikhona ukukusiza wena nomndeni wakho. Ukuthatha izinsizakalo zalezi zinsizakalo kungase kunikeze usizo olusebenzayo nokusekelwa ngokomzwelo ngezikhathi ezinzima.
I-Rett syndrome ayikwazi ukuvimbeka ngoba ibangelwa izinguquko ze-genetic ezingahleliwe ezenzeka ngokungahleliwe. Ezimweni ezimbalwa lapho idluliselwa khona, ukwelulekwa kwe-genetic kungasiza imindeni ukuba iqonde izingozi zayo, kepha izimo eziningi zenzeka ngaphandle komlando womndeni waleli simo.
Yebo, abantwana abaningi abane-Rett syndrome baqonda okuningi kunalokho abangakwazi ukuveza. Bavame ukugcina ikhono lokuqonda amalungu omndeni, ukuphendula emazwini ajwayelekile, nokubonisa ukukhetha imisebenzi ethile noma abantu. Amakhono abo okuqonda angase agcinwe kangcono kunalokho izimpawu zabo zomzimba ezikubonisa.
Abantu abaningi abane-Rett syndrome baphila isikhathi eside esikhulile, abanye baphila kuya eminyakeni engu-40, 50, noma ngaphezulu. Isikhathi sokuphila siyancika ebukhulu bezimpawu nokuthi izinkinga ziphathwa kangcono kanjani. Ukunakekelwa kwezokwelapha okuhle nokusekelwa kungathuthukisa kakhulu kokubili ikhwalithi yempilo nobude bomphila.
Abantwana abaningi abane-Rett syndrome bangaya esikoleni ngokusekelwa okufanele nokwenziwa kwezinguquko. Izinhlelo zokufundisa ezikhethekile zingalungiswa ngokuya ngezidingo zabo, zigxile emakhonweni abo namandla abo. Uhlelo oluqondile lokufundisa luzoxhomeka ezimpawu zomntanakho nakubukhulu bawo.
Yebo, ucwaningo lwezinsizakalo ze-Rett syndrome luqhubeka luqhubeka futhi lunethemba. Ososayensi bahlola i-gene therapy, imithi eqondiswe ngqo, nezinye izindlela ezintsha. Nakuba lezi zinsizakalo zisafundwa, umzila wocwaningo unikeza ithemba langempela lezinsizakalo ezisebenza kangcono eminyakeni ezayo.
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