Ukhathazekile kancane ngokukhula kwentombazanyana yakho? Yayivame ukugijima, idlale, futhi ikhulume kakhulu, bese ngokuzumayo ibonakala sengathi iyehla ijubane? Kuvamile ukuthi umama noma ubaba azizwe esaba futhi ekhathazekile uma ubona into efana nale. Namuhla sizokhuluma ngesinye isimo esinjalo. Lokhu kubizwa ngokuthi i-Rett Syndrome. Lesi yisimo esingavamile kakhulu esithinta kakhulu amantombazane. Ungakhathazeki, ake sixoxe ngakho konke ngokucacile nangokulula.
Iyini imbangela yangempela ye-Rett syndrome?
Kalula nje, i-Rett syndrome yisimo esibangelwa inkinga yezakhi zofuzo. Wonke amaseli emzimbeni wethu anento ebizwa ngokuthi ama-chromosome. Ingane yesifazane inama-chromosome amabili angu-X (XX). Ushintsho, noma ukuguquka kwezakhi zofuzo, olubizwa ngokuthi i-MECP2 kule chromosome engu-X luyimbangela eyinhloko ye-Rett syndrome.
Ososayensi bakholelwa ukuthi i-MECP2 gene idlala indima ebaluleke kakhulu ekuthuthukisweni kobuchopho. Uma kukhona iphutha kule gene, lithinta ngqo ukukhula kobuchopho bengane. Yilokho okuthinta izinto ezifana nokukhuluma, ukuhamba, nokusebenzisa izitho zomzimba.
Into ebalulekile ukuthi nakuba i-Rett syndrome iyisimo sofuzo, ngokuvamile ayidluliselwa kusuka kumzali iye enganeni. Kuyinguquko eyenzeka ngokungahleliwe emangqamuzaneni engane. Lokhu kusho ukuthi ingane ingayithola ngisho noma kungekho muntu emndenini wakho oke waba nayo. Ngakho ungazibeki icala noma umlingani wakho ngalokhu.
Ukuhlolwa kofuzo kungenziwa ukuqinisekisa lesi simo. Lokhu kuvame ukwenziwa ngesampula yegazi. Udokotela wakho uzokuthumela kulolu vivinyo uma kudingeka.
Uyini umehluko phakathi kwe-Rett syndrome kanye ne-autism?
Ngenxa yokuthi ezinye zezimpawu ziyafana, lezi zimo ezimbili ngezinye izikhathi zingadidaniswa. Kuzo zombili izimo, ingane ibhekana nobunzima ekuxhumaneni nabantu nasekukhulumisaneni. Kodwa-ke, kunomehluko ocacile.
| Isici | I-Rett Syndrome | I-Autism (Isifo Sokuphazamiseka Kwe-Autism) |
|---|---|---|
| Umthelela | Ithinta kakhulu amantombazane kuphela. | Kuvame kakhulu ukubonwa phakathi kwabafana. |
| Ukukhula kwekhanda | Ukukhula kwekhanda kuyehla ngokuhamba kwesikhathi (i-microcephaly). | Ngokuvamile, akukho mphumela ekukhuleni kwekhanda. |
| Ukusetshenziswa kwesandla | Imisebenzi yezandla efundiwe iyalahleka. Ukunyakaza okuphindaphindiwe njengokuhlikihla izandla kanye nokugeza izandla kuyaboniswa. | Akukho ukulahlekelwa ukusetshenziswa kwezandla. Kungase kube neminye imikhuba ephindaphindayo. |
| Ukuxhumana nabantu | Ngokuvamile bathanda abantu kakhulu. Bathanda ukuboniswa uthando nothando. | Ezinye izingane zithanda amathoyizi kunabantu futhi zikhetha ukuhlala kude nomphakathi. |
| Izinkinga zokuphefumula | Amaphethini angajwayelekile njengokuphefumula okusheshayo nokubamba umoya kungabonakala. | Lezi zinhlobo zezinkinga zokuphefumula azivamile ukubonakala. |
Lesi simo sibathinta kanjani abafana?
Lokhu akuvamile kakhulu. Ngenxa yokuthi ingane yesilisa ine-chromosome eyodwa kuphela (XY), uma i-gene ye-MECP2 kuleyo chromosome eyodwa ye-X yonakele, imiphumela iba mibi kakhulu. Esikhathini esiningi, izingane ezinjalo zesilisa ziyafa ngesikhathi sokuzalwa noma ngokushesha ngemva kwalokho.
Ziyini izimpawu ze-Rett syndrome?
Lezi zimpawu zingase zihluke kuye ngengane. Ngokuvamile zibonakala ezinyangeni zokuqala eziyi-6-18 zokuphila kwengane.Lezi zimpawu ziqala ukuvela ngesikhathi sokuthomba. Nakuba ingane ingase ibonakale ikhula kahle ekuqaleni, izinguquko zingase zenzeke kancane kancane noma ngokuzumayo.
Nazi ezinye zezimpawu eziyinhloko:
- Ukukhula okuhamba kancane: Ubuchopho bomntwana abukhuli kahle, okubangela usayizi wekhanda elincane. Odokotela bakubiza lokhu ngokuthi i-microcephaly .
- Ukulahlekelwa ukusebenza kwesandla: Ingane eyayikwazi ukubamba amathoyizi nokwenza izinto ngezandla zayo ilahlekelwa yilelo khono. Kunalokho, iyaqhubeka nokwenza ukunyakaza okufanayo, njengokuhlikihla izandla zayo kanye nokugeza izandla zayo.
- Ukulahlekelwa ukukhuluma: Ingane eyayivame ukukhuluma phakathi kweminyaka eyi-1 neyi-4 ivele iyeke ukukhuluma.
- Izinkinga zokuhamba nokunyakaza: Izinkinga zemisipha nokulinganisela zingabangela ukuhamba okungajwayelekile. Ungase ungakwazi ngisho nokuhamba nhlobo.
- Izinkinga zokuphefumula: Ukuphefumula okusheshayo okuqhubekayo ( ukuphefumula ngokweqile ) kanye nokubamba umoya kungase kubonakale.
- Ukuquleka: Izingane eziningi ezine-Rett syndrome zibhekana nokuquleka ngesikhathi esithile empilweni yazo.
- Ezinye izimpawu: Ungase ubone nezinguquko zokuziphatha ezifana ne -scoliosis , ukunyakaza kwamehlo okungavamile, izinkinga zokulala , ukugaya amazinyo, kanye nokucasuka noma ukukhala njalo.
Izigaba ezine ze-Rett syndrome
Lesi simo sivame ukudlulela ezigabeni ezine, kodwa asithinti wonke umntwana ngendlela efanayo.
| Isiteji | Isikhathi | Izinto okufanele uzibone |
|---|---|---|
| Isigaba I: Isigaba sokuqala | Izinyanga eziyi-6 - 18 | Izimpawu azicacile kakhulu. Ukuncipha kokuxhumana emehlweni, ukwehla kwesithakazelo kumathoyizi, ukukhasa kancane nokuhlala phansi. |
| Isigaba II: Ukwehla okusheshayo | Iminyaka eyi-1 - 4 | Amakhono engane afundwayo (ukukhuluma, ukusebenzisa izandla) alahleka ngokushesha. Ukukhula kwekhanda kuyehla, bese kuqala ukunyakaza kwezandla okungavamile. |
| Isigaba III: I-Plateau | Kusukela eminyakeni emi-2 kuya kweyi-10 kuya ebudaleni | Ukubuyela emuva kuyaphela. Nakuba kunezinkinga zokunyakaza, ukuziphatha (ukukhala, ukucasuka) kuyathuthuka kancane. Ukuxhumana nokusebenzisa izandla kungathuthuka kancane. Isifo sokuwa singase sibe khona. |
| Isigaba IV: Ukulahlekelwa okuqhubekayo kokuhamba | Ngemva kweminyaka eyi-10 | Ukunyakaza kuyancishiswa. Ubuthakathaka bemisipha kanye ne-scoliosis kuyanda. Kodwa isifo sokuwa kanye nokuxhumana kungathuthuka. |
Yiziphi izindlela zokwelapha lokhu?
Ngeshwa, ayikho ikhambi le-Rett syndrome. Kodwa-ke, kunezindlela eziningi zokwelapha ezingasiza ukulawula izimpawu futhi zinikeze ingane yakho ikhwalithi engcono kakhulu yokuphila. Lokhu kuwumzamo weqembu. Udokotela wakho, abelaphi bomzimba, kanye nabelaphi bokukhuluma bonke bahilelekile.
- Imithi: Imithi inikezwa ukulawula izinto ezifana nesifo sokuwa, ukuqaqamba kwemisipha, nezinkinga zokulala. Umuthi omusha obizwa ngokuthi i-trofinetide (Daybue) usanda kuvunywa, futhi ungalawula ezinye zezimpawu. Khuluma nodokotela wakho ngalokhu.
- Ukwelashwa Komzimba: Lokhu kusiza ekuthuthukiseni ukunyakaza kwengane, ibhalansi, kanye nekhono lokuhamba. Kubalulekile futhi ekuqondeni umgogodla.
- Ukwelashwa Komsebenzi: Lokhu kusiza ekuthuthukiseni ikhono lezandla zengane lokwenza imisebenzi yansuku zonke ngokuzimela, njengokugqoka nokudla.
- Ukwelashwa Ngenkulumo: Ngisho noma ingane ingakwazi ukukhuluma, ifundiswa ukuziveza ngezinye izindlela, njengokusebenzisa amehlo ayo nezithombe.
- Ukudla okunempilo: Ukudla okunomsoco kubalulekile ekukhuleni kwengane. Uma ingane yakho inenkinga yokugwinya, kufanele uxhumane nodokotela wakho ngalokhu.
Ukunakekela ingane ene-Rett syndrome kuyinselele. Kodwa khumbula, awuwedwa. Kunezinhlangano namaqembu okusekela abazali anganikeza ukusekelwa okudingwa yingane yakho. Ukuxhumana nabo kungaba umthombo omkhulu wamandla.
Umlayezo Wokuya Nawe Ekhaya
- I-Rett Syndrome yisifo esingavamile esithinta kakhulu amantombazane.
- Lokhu akuyona into evame ukutholwa njengefa kubazali, kungushintsho olungahleliwe ezizakhini zofuzo zengane.
- Isici esiyinhloko ukulahlekelwa amakhono omntwana afundwe (ukukhuluma, ukuhamba, ukusebenzisa izandla) ngokuhamba kwesikhathi (ukubuyela emuva).
- Nakuba lesi simo singelapheki ngokuphelele, imithi nezindlela ezahlukene zokwelapha zingalawula izimpawu futhi zinike ingane impilo enhle.
- Uma unenkinga mayelana nokukhula kwengane yakho, khuluma nodokotela wakho ngokushesha. Kubalulekile ukwenza izinqumo ezinolwazi ngaphandle kokwesaba.
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