Phakathi kwezinkinga eziningi intombazane engabhekana nazo yilokho okuthiwa Isifo se-rett, isifo esatholwa ngo-1966 ngudokotela wase-Austrian u-Andreas Rett - yingakho sibizwa ngegama laso - futhi sibonakala ngokwanda kokuwohloka okuxhumene nokwehluleka kokuthuthuka kwezinzwa.
Yize ingathinta abesilisa, iRett Syndrome kwenzeka cishe kuphela emantombazaneni noma kwabesifazane abadala. Kuyisifo sezinzwa esiqala ebuntwaneni futhi kuya ngokuya kuba kubi njengoba iminyaka ihamba. Ubukhulu becala bungahluka kuye ngomuntu ngamunye, yize konke abelana ngakho ukuthi ekuqaleni ukukhula nokukhula kwentombazane noma komfana kujwayelekile kuze kuqale izimpawu zokuqala.
Umsuka wenkinga
El I-Rett syndrome ibangelwa izinguquko ezihlukile, Engahluka kusuka kumaphutha kuya ekuguqulweni, kufayela le- Uhlobo lwe-MECP2, isakhi sofuzo esitholakala ngaphakathi kwe-chromosome X. Ngokocwaningo olwenziwa ngo-1999, lesi sakhi silawula imisebenzi yabanye futhi sihambisana nokwenziwa kwephrotheni yokubopha i-methyl cytosine 2 noma I-MeCP2, iphrotheni ethinta uhlelo lwamakhemikhali omzimba futhi lapho ingasebenzi kahle, itshengisa ezinye izakhi zofuzo ukuthi ziyeke ukukhiqiza amaprotheni azo.
Ngokuguqula lolu hlobo lohlobo lokuqala, lubangela ukuguqulwa okujwayelekile kohlelo Futhi ngakho-ke ezinye izakhi zofuzo zenziwa zisebenze ngezikhathi lapho kungafanele zenziwe, ngaleyo ndlela zikhiqize amanye amaprotheni, okuholela ekuguqulweni komhlaba wonke komzimba kanye nezinkinga ezilandelwayo zokuthuthuka kwezinzwa.
Kuze kube manje, cishe izingane ezingama-80% ezitholakale zinokushintshwa kwezakhi zofuzo ku-MECP2, yize kwezinye izimo ukubonakala kwesifo kuzohambisana nokuguquka kwezinye izakhi zofuzo ezingakakhonjwa noma ezinye izingxenye zofuzo olufanayo.
Ngokungafani nezinye izifo ezixhunyaniswe nezakhi zofuzo, I-Rett syndrome ayizuzwa njengefa kodwa yenzeka ngokuguquguquka okungahleliwe. Kuphela yi-1% yamacala abhalisiwe kuze kube manje angenxa yokudluliswa kusuka esizukulwaneni kuya kwesinye.
Izici nezigaba zeRett Syndrome
Yize sakusho lokho ekuqaleni i- izingane ezine-Rett Syndrome ukwethula okujwayelekile, kufika isikhathi lapho i- izimpawu zokuqala, ezingaba ngokomzimba nangokwengqondo.
Okuvame kakhulu esigabeni sokuqala yilezi:
- Hypotonia noma ukulahleka kwemisipha ithoni
- Ukungakwazi ukusebenzisa izandla nokukhuluma ngokuzithandela.
- Izinkinga ukukhasa noma ukuhamba
- Ukulahleka noma ukwehla kwamehlo
- Ukunyakaza kwezandla okuphoqayo (njengokuhlikihla noma ukugeza izandla)
- I-apraxia noma ukungakwazi ukwenza imisebenzi yezimoto, ngaleyo ndlela kuguqulwe konke ukunyakaza komzimba.
- Ukuziphatha kwe-Autistic
Ngaphezu kwezimpawu ezishiwo, ezinye izimpawu zeRett Syndrome zingaba:
- Izinkinga zokulala
- Ukuhamba ngamabhola ezinyawo zakho noma imilenze yakho ivulekile kakhulu
- Ubunzima bokuhlafuna
- Ukugaya noma ukugedla amazinyo
- Ukuquleka
- Ukukhula okumile
- Ukukhubazeka kwengqondo okuxhumene nokufunda
- Ubunzima bokuphefumula (i-apneas, i-aspiration yomoya, i-hyperventilation).
El I-Rett syndrome inikeza izigaba ezine ethize: lokho kwe Ukuqala ngaphambi kwesikhathi, eqala phakathi kwezinyanga eziyisithupha kuya kwezingu-6 ubudala futhi kunzima ukuyihlukanisa njengoba izimpawu zingabonakali kakhulu bese kuba isigaba II noma Isigaba Sokubhujiswa Esisheshayo, okwenzeka unyaka owodwa kuya ku-4, isigaba lapho, ikakhulukazi, ukuvela okusheshayo noma okuhamba kancane kwezimpawu zezimoto zesandla nokukhuluma kuqoshwa. Isigaba esilandelayo yi Ukuqiniswa noma isigaba sokumisa mbumbulu (Iminyaka emi-2 kuye kwengu-10) futhi kungathatha iminyaka ukuthi ekugcineni ungene esigabeni IV, i- Isiteji Sokulimala Kwezimoto Esidlule, ehlala iminyaka noma amashumi eminyaka futhi inikeze ukuhamba okuncishisiwe, ukuqina kwemisipha, ukuqina kanye ne-dystonia, phakathi kwezinye izimpawu.
Ukuxilongwa nokwelashwa
Ngesikhathi alikho ikhambi leRett Syndrome, Ukwelashwa kuphathelene nokubhekana nezimpawu njengoba zivela endleleni eyahlukene. Kunomuthi owenzelwe ukulawula izimpawu, kusuka ebunzimeni bokuphefumula kuya kobunzima bezimoto kuya ekubambeni.
La ukwelashwa emsebenzini, ukwelashwa ngokomzimba kanye ne-hydrotherapy Zisiza isiguli ukuthi sandise amandla okuzimela ngenkathi sisiza ukwelula ukuhamba. Ukusetshenziswa kwezicucu, izihlakala nezinye izinto ezibasiza ukulawula ukunyakaza nezinkinga nakho kuvamile.
Ngaphandle kwesibikezelo, abantu abaningi abanalesi sifo baphila baze babe ngabantu abadala, noma kunjalo iminyaka yokuphila ayaziwa ngoba kuyisifo esingajwayelekile.