Ngaba ukhathazekile kancinci malunga nokukhula kwentombazana yakho encinci? Yayisoloko ibaleka, idlala, kwaye ithetha kakhulu, kwaye ngequbuliso ibonakala ngathi iyacotha? Kuqhelekile ukuba umama okanye utata azive esoyika kwaye ekhathazekile xa ubona into efana nale. Namhlanje siza kuthetha ngenye imeko enjalo. Oku kubizwa ngokuba yiRett Syndrome. Le yimeko engaqhelekanga kakhulu echaphazela kakhulu amantombazana. Ungakhathazeki, masithethe ngayo yonke into ngokucacileyo nangokulula.
Yintoni eyona nto ibangela isifo seRett?
Ngamafutshane, i-Rett syndrome yimeko ebangelwa yingxaki yemfuza. Yonke iseli emzimbeni wethu inento ebizwa ngokuba yi-chromosomes. Umntwana obhinqileyo une-X chromosomes ezimbini (XX). Utshintsho, okanye utshintsho, kwi-gene ebizwa ngokuba yi -MECP2 kule chromosome X yeyona nto ibangela i-Rett syndrome.
Izazinzulu zikholelwa ukuba i-MECP2 gene idlala indima ebaluleke kakhulu ekuphuhlisweni kwengqondo. Xa kukho isiphene kule gene, ichaphazela ngqo uphuhliso lwengqondo yomntwana. Yiloo nto ichaphazela izinto ezifana nokuthetha, ukuhamba, nokusebenzisa amalungu omzimba.
Into ebalulekileyo kukuba nangona i-Rett syndrome iyimeko yemfuza, ayiqhelekanga ukudluliselwa kumzali ukuya emntwaneni. Yinguqu eyenzeka ngokungacwangciswanga kwiiseli zomntwana. Oku kuthetha ukuba umntwana angayihlakulela nokuba akukho mntu kusapho lwakho owakha wayinayo. Ngoko ke musa ukuzibeka ityala okanye uzibeke ityala kwiqabane lakho ngale nto.
Uvavanyo lwemfuza lunokwenziwa ukuqinisekisa le meko. Oku kudla ngokwenziwa ngesampulu yegazi. Ugqirha wakho uza kukuthumela kolu vavanyo ukuba kuyimfuneko.
Yintoni umahluko phakathi kwe-Rett syndrome kunye ne-autism?
Ngenxa yokuba ezinye zeempawu ziyafana, ezi meko zimbini ngamanye amaxesha zinokubhidaniswa. Kuzo zombini iimeko, umntwana ufumana ubunzima ekunxibelelaneni nabantu nasekunxibelelaneni. Nangona kunjalo, kukho umahluko ocacileyo.
| Uphawu | Isifo seRett | I-Autism (Ingxaki ye-Autism Spectrum) |
|---|---|---|
| Impembelelo | Ichaphazela kakhulu amantombazana kuphela. | Ixhaphake kakhulu phakathi kwabafana. |
| Ukukhula kwentloko | Ukukhula kwentloko kuyehla ngokuhamba kwexesha (i-microcephaly). | Ngokwesiqhelo, akukho mpembelelo ekukhuleni kwentloko. |
| Ukusetyenziswa ngesandla | Imisebenzi yezandla efundiweyo iyalahleka. Iintshukumo eziphindaphindwayo ezifana nokuhlikihla izandla kunye nokuhlamba izandla ziyaboniswa. | Akukho kulahleka kokusetyenziswa kwezandla. Kusenokubakho ezinye iindlela zokuziphatha eziphindaphindayo. |
| Unxibelelwano loluntu | Ngokuqhelekileyo bathanda abantu ngakumbi. Bathanda ukuboniswa uthando nobubele. | Abanye abantwana bakhetha izinto zokudlala kunabantu kwaye bakhetha ukuhlala kude noluntu. |
| Iingxaki zokuphefumla | Iipateni ezingaqhelekanga ezifana nokuphefumla ngokukhawuleza kunye nokubamba umoya kunokubonwa. | Olu hlobo lweengxaki zokuphefumla aluqhelekanga ukubonwa. |
Le meko ibachaphazela njani abafana?
Oku kunqabile kakhulu. Ngenxa yokuba umntwana oyinkwenkwe une-chromosome enye ye-X (XY) kuphela, ukuba i-gene ye-MECP2 kuloo chromosome enye ye-X yonakele, iziphumo ziba zibi kakhulu. Uninzi lwexesha, abantwana abanjalo abayinkwenkwe bayafa xa bezalwa okanye kungekudala emva koko.
Zithini iimpawu zesifo sikaRett?
Ezi mpawu zinokwahluka kumntwana ngamnye. Zidla ngokubonakala kwiinyanga zokuqala ezi-6-18 zobomi bomntwana.Ezi mpawu ziqala ukubonakala ngexesha lokufikisa. Nangona umntwana esenokubonakala ekhula ngendlela eqhelekileyo ekuqaleni, utshintsho lunokwenzeka kancinci kancinci okanye ngequbuliso.
Nazi ezinye zeempawu eziphambili:
- Ukukhula okucothayo: Ingqondo yomntwana ayikhuli kakuhle, nto leyo ebangela ukuba intloko yakhe ibe ncinci. Oogqirha bayibiza ngokuba yi- microcephaly .
- Ukungasebenzi kakuhle kwesandla: Umntwana owayesakuba nobuchule ekubambeni amathoyizi nokwenza izinto ngezandla zakhe ulahlekelwa bubo buchule. Endaweni yoko, uyaqhubeka nokwenza iintshukumo ezifanayo, njengokuhlikihla izandla zakhe kunye nokuhlamba izandla zakhe.
- Ukulahlekelwa kukuthetha: Umntwana obethetha phakathi kweminyaka eli-1 neli-4 ubudala ngequbuliso uyeka ukuthetha.
- Iingxaki zokuhamba kunye nokuhamba: Iingxaki zemisipha kunye nokulinganisela zinokubangela ukuhamba okungaqhelekanga. Usenokungakwazi nokuhamba konke konke.
- Iingxaki zokuphefumla: Ukuphefumla okukhawulezileyo okuqhubekayo ( umoya ophuma ngamandla ) kunye nokubamba umoya kunokubonakala.
- Ukuxhuzula: Abantwana abaninzi abane-Rett syndrome badibana nokuxhuzula ngaxa lithile ebomini babo.
- Ezinye iimpawu: Ungabona utshintsho kwindlela oziphatha ngayo olufana nokuqaqamba kwamehlo , iintshukumo zamehlo ezingaqhelekanga, iingxaki zokulala , ukutshixiza amazinyo, kunye nokucaphuka okanye ukukhala rhoqo.
Amanqanaba amane e-Rett syndrome
Le meko idla ngokuqhubeka ngamanqanaba amane, kodwa ayichaphazeli wonke umntwana ngendlela efanayo.
| Iqonga | Ixesha | Izinto onokuzibona |
|---|---|---|
| Isigaba I: Isigaba sokuqala | Iinyanga ezi-6 ukuya kwezi-18 | Iimpawu azibonakali lula. Ukuncipha kokujonga emehlweni, ukuncipha komdla kwizinto zokudlala, ukukhasa nokuhlala ixesha elide. |
| Isigaba sesiBini: Ukwehla ngokukhawuleza | Iminyaka eyi-1 ukuya kweyi-4 | Izakhono zomntwana ezifundiweyo (ukuthetha, ukusebenzisa izandla) ziyalahleka ngokukhawuleza. Ukukhula kwentloko kuyehla, kwaye kuqala iintshukumo ezingaqhelekanga zezandla. |
| Isigaba sesi-3: I-Plateau | Ukususela kwiminyaka emi-2 ukuya kweli-10 ukuya kutsho kwiminyaka yobudala | Ukubuyela umva kuyaphela. Nangona kukho iingxaki zokunyakaza, indlela yokuziphatha (ukukhala, umsindo) iyaphucuka kancinci. Unxibelelwano kunye nokusetyenziswa kwezandla kunokuphucula kancinci. Isifo sokuwa sinokubakho. |
| Inqanaba lesi-IV: Ukulahlekelwa ngakumbi kukuhambahamba | Emva kweminyaka eli-10 | Ukushukuma kuya kuncitshiswa. Ubuthathaka bemisipha kunye ne-scoliosis ziyanda. Kodwa isifo sokuwa kunye nonxibelelwano zinokuphucuka. |
Zithini iindlela zonyango zoku?
Ngelishwa, akukho nyango lwe-Rett syndrome. Nangona kunjalo, kukho unyango oluninzi olunokunceda ukulawula iimpawu kwaye lunike umntwana wakho ubomi obusemgangathweni. Lo ngumzamo weqela. Ugqirha wakho, iingcali zonyango lomzimba, kunye neengcali zonyango lokuthetha bonke bayabandakanyeka.
- Amayeza: Amayeza anikwa ukulawula izinto ezifana nesifo sokuwa, ukuxinana kwemisipha, kunye neengxaki zokulala. Iyeza elitsha elibizwa ngokuba yi -trofinetide (Daybue) livunyiwe kutshanje, kwaye linokulawula ezinye zeempawu. Thetha nogqirha wakho ngale nto.
- Unyango Lomzimba: Oku kunceda ekuphuculeni intshukumo yomntwana, ukulinganisela, kunye nokukwazi ukuhamba. Kwakhona kubalulekile ekulungelelaniseni umqolo.
- Unyango Lomsebenzi: Oku kunceda ekuphuhliseni amandla ezandla zomntwana okwenza imisebenzi yemihla ngemihla ngokuzimela, njengokunxiba nokutya.
- Unyango Lokuthetha: Nokuba umntwana akakwazi ukuthetha, ufundiswa ukuziveza ngezinye iindlela, njengokusebenzisa amehlo akhe nemifanekiso.
- Ukutya okunempilo: Ukutya okunesondlo kubalulekile ekukhuleni komntwana. Ukuba umntwana wakho unengxaki yokuginya, kufuneka udibane nogqirha wakho ngale nto.
Ukunyamekela umntwana one-Rett syndrome ngumceli mngeni. Kodwa khumbula, awuwedwa. Kukho imibutho kunye namaqela enkxaso yabazali anokubonelela ngenkxaso efunekayo kumntwana wakho. Ukunxibelelana nabo kunokuba ngumthombo omkhulu wamandla.
Umyalezo Wokuya Ekhaya
- I-Rett Syndrome sisifo esingaqhelekanga semfuza esichaphazela kakhulu amantombazana.
- Oku akuyonto idla ngokuzuzwa ngabazali, lutshintsho oluzenzekelayo kwiijini zomntwana.
- Uphawu oluphambili kukulahlekelwa zizakhono zomntwana zokufunda (ukuthetha, ukuhamba, ukusebenzisa izandla) ngokuhamba kwexesha (ukubuyela umva).
- Nangona le meko ingenakunyangwa ngokupheleleyo, amayeza kunye neendlela ezahlukeneyo zonyango zinokulawula iimpawu kwaye zinike umntwana ubomi obuhle.
- Ukuba unenkxalabo malunga nokukhula komntwana wakho, thetha nogqirha wakho ngoko nangoko. Kubalulekile ukwenza izigqibo ezisekelwe kulwazi ngaphandle kokukhathazeka.
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