Njengomama noma ubaba, sikhathazeka kakhulu ngayo yonke into encane ngomntwana wethu, akunjalo? Ukukhula kwakhe, ukubukeka kwakhe, ukuziphatha kwakhe... Siyazinaka zonke lezi zinto. Ngezinye izikhathi, lapho sibona izinguquko ezincane ekubukekeni kwengane, isibonelo, uzwane olukhulu olukhuliswe kancane, noma ngisho nokubambezeleka okuncane ekukhuleni, sizizwa sesaba kancane. Ngezikhathi ezinjalo, kufanele siqaphele isimo sofuzo esingavamile kodwa esibalulekile. Leso yiRubinstein-Taybi Syndrome.
Iyini i-Rubinstein-Taybi Syndrome (RTS)?
Kalula nje, i-Rubinstein-Taybi Syndrome iyisifo esingavamile sofuzo esithinta izinhlelo eziningana emzimbeni. Sifushaniswa ngokuthi i-RTS. Izimpawu eziyinhloko ezibonakala ezinganeni ezinalesi simo yizinzwane ezinkulu nezinzwane ezinkulu ezibanzi ngendlela engavamile , ezinye izici zobuso ezihlukile, kanye nokubambezeleka kokukhula .
Lesi simo saqala ukuchazwa ngo-1957. Kodwa-ke, kwaze kwaba ngo-1963 lapho sahlonzwa khona njengesifo ngodokotela ababili, uDkt. Jack Rubinstein noDkt. Hooshang Taybi. Amagama abo asetshenziswa kulesi sifo.
Yiziphi izimpawu eziyinhloko ze-RTS?
Akuzona zonke izingane ezine-RTS ezizoba nazo zonke lezi zimpawu. Kodwa-ke, kunezimpawu ezivamile. Ake sizihlukanise zibe izigaba ezimbili ezilula ukuziqonda.
| Uhlobo oluyisici | Izinto okufanele uzibone |
|---|---|
| Izimpawu Zamehlo | |
| Indawo yeso | Amakhona angaphandle amehlo ehlela phansi futhi ibanga phakathi kwamehlo liyakhula. |
| Ijwabu leso | Ijwabu eligobile (i-Ptosis) . |
| Ishiya | Amashiya aphakeme kakhulu. |
| Izifo | Ukutheleleka kwamehlo okuvamile ngenxa yokuvaleka kwemigudu yokudonsa izinyembezi. |
| Ezinye izimpawu zomzimba (Izimpawu Ezingezona Ezokubona) | |
| Izandla nezinyawo | Izinzwane ezinkulu nezinzwane zibanzi kunokuvamile futhi ngezinye izikhathi zigobile. |
| Ukukhula | Ubude obufushane ngenxa yokukhula kwamathambo okulibazisekile. |
| Ikhanda nobuso | Ikhanda elincane (i-Microcephaly) , impumulo efana nomlomo, ibhuloho elibanzi lekhala, ukugoba kwekhasi eliphezulu phezulu, umhlathi omncane ongezansi. |
| Ezinye izici | Ubunzima bokudla, izifo zokuphefumula ezivame ukwenzeka, izinkinga zenhliziyo, izinso, nomgogodla, ukukhula kwezinwele ngokweqile, kanye namasende angakhuphuki kubafana. |
Izinguquko ezibonakalayo ekukhuleni nasekuziphatheni
Ngaphezu kwezimpawu zomzimba, izingane ezine-RTS zingase zibe nokulibaziseka okuthile kanye nezinguquko ekukhuleni nasekuziphatheni.
Ukulibaziseka kwengqondo nokufunda
Izingane ezine-RTS zingase zibe nokukhula kwengqondo okuhamba kancane kunezingane ezivamile. Izinga lalokhu kubambezeleka liyahlukahluka kusuka komunye umntwana kuya komunye. Ezinye zingase zibe nokulibaziseka okuncane, kanti ezinye zingase zibe nokulibaziseka okukhulu. Zingase zibe nobunzima bokucabanga, ukufunda izinto ezintsha, kanye nokuxazulula izinkinga. Lokhu kuvame ukubonakala lapho ingane iqala isikole.
Ukubambezeleka kwamakhono omzimba kanye nemisipha
Lezi zingane zivame ukuba nemisipha ephansi . Lokhu kungaholela ekubambezelekeni kwemisebenzi yomzimba njengokugingqika, ukuhlala phansi, nokuhamba. Zingase zibe nezinkinga ngokulinganisela kanye nokulawula ukunyakaza.
Ukuphuza ukukhuluma nokuxhumana
Cishe ama-90% ezingane ezine-RTS anokulibaziseka okukhulu ekuthuthukisweni kwenkulumo. Esinye sezibonakaliso zokuqala zalokhu kungaba ubunzima bokudla , njengoba ukudla nokukhuluma kudinga ukuhlanganiswa okuhle kwemisipha yomlomo nolimi.
Khumbula, akuzona zonke lezi zithiyo ezenzeka kuyo yonke ingane. Futhi, la makhono angathuthukiswa ngokwelashwa okufanele kanye nokwelashwa.
Iyini imbangela yalesi simo?
Uma betshelwa ukuthi lesi yisimo sofuzo, abanye abazali bangase besabe ukuthi lokhu kuyinto abayizuze njengefa.
Kubalulekile ukuqonda ukuthi isikhathi esiningi, lesi simo sibangelwa ukuguquka kwezakhi zofuzo emzimbeni wengane. Lokhu kusho ukuthi asizuzwa njengefa kumama noma kuyise. Ngakho-ke, kumbhangqwana ophilile onengane ene-RTS, ingozi yokuthi ingane yabo elandelayo ibe nalesi simo ingaphansi kuka-1%.
Kodwa-ke, akuvamile kakhulu, uma umzali oyedwa enesimo se-RTS, kunethuba elingu-50% lokuthi ingane izozuza ifa lesakhi sofuzo. Lokhu kubangelwa kakhulu izinguquko kuma-genes e-CREBBP kanye ne-EP300 .
Ungasibona kanjani isimo se-RTS?
Ngokuvamile, udokotela uzoxilonga lesi simo ngokuhlola izici zomzimba zengane, ikakhulukazi izinzwane ezibanzi, amehlo abheke phansi, kanye nomlomo ophezulu ophakanyisiwe.
Ukuqinisekisa lokhu kutholakala, ngezinye izikhathi kwenziwa izivivinyo ezengeziwe.
- Ama-X-ray: Bheka izinguquko ezithile emathanjeni ezingalweni nasemilenzeni.
- Ukuskena kobuchopho: Qapha umsebenzi kagesi wobuchopho.
- Ukuhlolwa Kwezakhi Zofuzo: Lokhu kuhlolwa kungenziwa ukuqinisekisa ukuthi kukhona yini ukuguquka kwezakhi zofuzo okuhlobene ne-RTS. Kodwa-ke, ezinye izingane ezine-RTS zingase zingatholakali lokhu kuguqulwa kwezakhi zofuzo ngokuhlolwa.
Ezinye izingane zingatholakala lapho zizalwa. Ezinye zitholakala kamuva. Kuya ngokuthi izimpawu zibucayi kangakanani.
Yiziphi izindlela zokwelapha lokhu?
Okokuqala, ayikho ikhambi le-RTS, kodwa lingalawulwa futhi ingane ingaphila impilo ephumelelayo ngokuthuthukisa amakhono ayo nokulawula izimpawu zayo .
Uhlelo lokwelashwa lunqunywa yizimpawu zengane. Lokhu kuwumzamo weqembu.
Lokho kusho ukuthi, hhayi udokotela oyedwa kuphela,Odokotela bezingane, odokotela benhliziyo, odokotela bamathambo, ochwepheshe bezindlebe, impumulo, kanye nabelaphi benkulumo basebenzisana ukuhlela ukwelashwa okungcono kakhulu kwengane.
Nazi ezinye zezindlela zokwelapha eziyinhloko:
- Ukuqapha njalo: Ukukhula kwengane kubhekwa kusetshenziswa amashadi okukhula akhethekile. Futhi, amehlo nezindlebe kuyahlolwa njalo ngonyaka.
- Ukuhlinzwa: Uma iminwe nezinzwane zigobile noma kukhona amaphutha ezithweni ezifana nenhliziyo noma izinso, kungase kudingeke ukuhlinzwa ukuze kulungiswe.
- Ukwelashwa: Lokhu kubaluleke kakhulu. Izinto ezifana nokwelashwa ngenkulumo, ukwelashwa ngokomzimba, kanye nokwelashwa kokuziphatha zibaluleke kakhulu ukuvimbela ukubambezeleka kokukhula kwengane.
- Imfundo Ekhethekile: Ukudlulisela ingane ezinhlelweni zemfundo ekhethekile ezenzelwe amakhono ayo okufunda kusekela kakhulu intuthuko yayo yengqondo.
- Ukwelulekwa Ngezakhi Zofuzo: Ukwelulekwa ngezakhi zofuzo kubaluleke kakhulu ukunikeza imindeni ukuqonda okucacile ngesimo, izinyathelo okufanele zithathwe, kanye nezingozi ezihlobene nezingane zesikhathi esizayo.
Into ebaluleke kakhulu ukuthi wena, njengomzali, ube nolwazi oluphelele ngesimo sengane yakho futhi usebenzisane eduze nethimba lezokwelapha elilapha ingane yakho.
Umlayezo Wokuya Nawe Ekhaya
- I-Rubinstein-Taybi Syndrome (RTS) iyisifo esingavamile esibangelwa izakhi zofuzo. Ngokuvamile asibangelwa yiphutha labazali.
- Izici eziyinhloko zibanzi kunezinzwane ezinkulu ezivamile, ukubukeka kobuso okuhlukile, kanye nokubambezeleka kokukhula.
- Nakuba kungelapheki ngokuphelele, kunezindlela zokwelapha eziphumelela kakhulu zokuphatha izimpawu nokuthuthukisa ikhwalithi yempilo yengane.
- Ukuqala ukwelashwa okufana nokwelashwa kokukhuluma kanye nokwelashwa ngokomzimba kusenesikhathi kubaluleke kakhulu ekukhuleni kwengane.
- Uma unokungabaza ngalezi zimpawu enganeni yakho, ungesabi, kodwa khuluma nodokotela wakho noma nodokotela wezingane ngakho.
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