Phakathi kweengxaki ezininzi amantombazana anokubandezeleka kuko okubizwa ngokuba Isifo serett, isifo esafunyanwa ngo-1966 ngugqirha wase-Austrian u-Andreas Rett-kungoko igama laso-kwaye sibonakaliswa ngokwanda kokuwohloka okunxulunyaniswa nokusilela kuphuhliso lwe-neurological.
Nangona inokuchaphazela abesilisa, iRet Syndrome yenzeka phantse kuphela kumantombazana okanye kwabasetyhini abadala. Sisifo semithambo-luvo esiqala ebuntwaneni Kwaye kuya kusiba nzima njengoko iminyaka ihamba. Ubungqongqo becala buyahluka ngokwamntu, nangona into ekwabelwana ngayo kukuba ukukhula nokukhula kwentombazana okanye inkwenkwe kuyinto eqhelekileyo de kuqale iimpawu zokuqala.
Ingcambu yengxaki
El I-Rett syndrome ibangelwa ziinguqu ezahlukeneyo, ezinokubakho ukusuka kwiziphene ukuya kutshintsho, kwifayile ye- Uhlobo lwe-MECP2, Imfuza eyafunyanwa ngaphakathi kwi-chromosome X. Ngokophando olwenziwa ngo-1999, le geni yona ilawula imisebenzi yabanye kwaye inxulunyaniswa nokudityaniswa kweproteyini ebopha imethyl cytosine 2 okanye I-MeCP2, iprotheni echaphazela inkqubo yezinto eziphilayo zomzimba kwaye xa ingasebenzi kakuhle, inika umqondiso kwezinye izakhi zofuzo ukuba ziyeke ukuvelisa iiproteni zazo.
Ngokutshintsha lo mfuziselo wokuqala, ubangela ukutshintsha ngokubanzi kwenkqubo kwaye ke ezinye iintlobo zemfuza zenziwa ukuba zisebenze ngamanye amaxesha xa zingafanelekanga, ngaloo ndlela zivelisa iiproteni zabanye, nezikhokelela kutshintsho lwehlabathi lomzimba kunye neziphumo zeengxaki zophuhliso lweeurological.
Ukuza kuthi ga ngoku, phantse iipesenti ezingama-80 zabantwana ezifunyanisiweyo zinokutshintsha kohlobo lwe-MECP2, nangona kwezinye iimeko ukubonakala kwesifo kunganxulunyaniswa notshintsho kwezinye izakhi zofuzo ezingekachongwa okanye ezinye iinxalenye zemfuza efanayo.
Ngokungafaniyo nezinye iingxaki ezinxulumene nemfuza, I-Rett syndrome ayizuzwa njengelifa kodwa yenzeka ngokungaqhelekanga. Kuphela yi-1% yamatyala abhalisiweyo ukuza kuthi ga ngoku ngenxa yokudluliselwa ukusuka kwisizukulwana ukuya kwisizukulwana.
Iimpawu kunye namanqanaba eRett Syndrome
Nangona besitshilo ekuqaleni le abantwana abaneRt Syndrome Zibonisa ukukhula okuqhelekileyo, kuye kuthi kufika ixesha laxa i- Iimpawu zokuqala, ezinokubakho ngokwasemzimbeni nasengqondweni.
Ezona zixhaphakileyo kwinqanaba lokuqala zezi:
- Hypotonia okanye ukulahleka kwethoni yezihlunu
- Ukungakwazi ukusebenzisa izandla kunye nentetho ngokuzithandela.
- Iingxaki ukukhasa okanye ukuhamba
- Ukuphulukana okanye ukuncipha kwamehlo
- Ukunyakaza kwezandla okunyanzelekileyo (njengokuhlikihla okanye ukuhlamba izandla)
- Iapraxia okanye ukungakwazi ukwenza imisebenzi yeemoto, ngaloo ndlela kuguqula yonke intshukumo yomzimba.
- Ukuziphatha okuzenzekelayo
Ukongeza kwiimpawu ezikhankanyiweyo, ezinye iimpawu zeRt Syndrome zinokuba:
- Iingxaki zokulala
- Ukuhamba kwiibhola zeenyawo zakho okanye imilenze yakho ithe saa bucala
- Ubunzima bokuhlafuna
- Ukutshixiza okanye ukutshixiza kwamazinyo
- Ukuhlaselwa
- Ukukhula okumileyo
- Ukukhubazeka kwengqondo okuhambelana nokufunda
- Ubunzima bokuphefumla (i-apneas, i-aspiration yomoya, i-hyperventilation).
El I-Rett syndrome inezigaba ezi-4 ngqo: leyo ye Ukuqalisa kwangaphambili, eqala phakathi kweenyanga ezintandathu ukuya kwezili-6 ubudala kwaye kunzima ukwahlula njengoko iimpawu zinokungabonakali kwaye kwinqanaba II Ukukhawulezisa iNqanaba lokuTshabalalisa, eyenzeka ukusuka kunyaka-4 ukuya ku-XNUMX, inqanaba apho, ngakumbi, ukukhula okukhawulezayo okanye okuthe ngcembe kweempawu zemoto zesandla kunye nentetho kurekhodwa. Inqanaba elilandelayo ngu Ukuzinzisa okanye inqanaba lokuma kwe-pseudo (2 ukuya kwi-10 yeminyaka) kwaye kungathatha iminyaka ukuya kwinqanaba lokugqibela lokungena kwinqanaba le-IV, i Ukuhamba kwexesha kweMoto, ehlala iminyaka okanye amashumi eminyaka kwaye ibonise ukunciphisa ukuhamba, ukuqina kwemisipha, ukungxama kunye ne-dystonia, phakathi kwezinye iimpawu.
Uxilongo kunye nonyango
Ngexesha akukho lunyango lwe-Rett Syndrome, Unyango luchaphazelekayo ngokujongana neempawu njengoko zivela kwindlela eyahlukeneyo. Kukho iyeza elenzelwe ukulawula iimpawu, ukusuka kubunzima bokuphefumla ukuya kubunzima beemoto ukuya ekubanjweni.
La unyango lomsebenzi, unyango lomzimba kunye ne-hydrotherapy Banceda isigulana ukuba sandise amandla okuzimela ngelixa sinceda ukwandisa ukuhamba. Ukusetyenziswa kwezicucu, iziqwenga kunye nezinye izinto ezibanceda ukulawula iintshukumo kunye neengxaki kuqhelekile.
Ngaphandle kokuxelwa kwangaphambili, uninzi lwabantu olunesi sifo luphila ebudaleni, nangona Ukulinda ubomi akwaziwa kuba sisifo esinqabileyo.