Njengomama okanye utata, sixhalabile kakhulu ngayo yonke into encinci ngomntwana wethu, akunjalo? Ukukhula kwakhe, inkangeleko yakhe, indlela aziphatha ngayo... Sizinika ingqalelo zonke ezi zinto. Ngamanye amaxesha, xa sibona utshintsho oluncinci kwinkangeleko yomntwana, umzekelo, uzwane olukhulu olukhuliswe kancinci, okanye nokubambezeleka okuncinci ekukhuleni, siziva sisoyika kancinci. Ngamaxesha anjalo, kufuneka siqaphele imeko yemfuza engaqhelekanga kodwa ebalulekileyo. Leyo yiRubinstein-Taybi Syndrome.
Yintoni iRubinstein-Taybi Syndrome (RTS)?
Ngamafutshane, iRubinstein-Taybi Syndrome sisifo esingaqhelekanga semfuza esichaphazela iinkqubo ezahlukeneyo emzimbeni. Sifinyezwa njenge-RTS. Iimpawu eziphambili ezibonwa ebantwaneni abanale meko ziinzwane ezinkulu nezinkulu ezibanzi ngokungaqhelekanga , ezinye iimpawu zobuso ezahlukileyo, kunye nokulibaziseka kokukhula .
Le meko yaqala ukuchazwa ngo-1957. Nangona kunjalo, ayizange ichazwe ngokupheleleyo de kwaba ngo-1963 ukuba ichongwe njengesifo ngoogqirha ababini, uGqr. Jack Rubinstein kunye noGqr. Hooshang Taybi. Amagama abo asetyenziswa kwesi sifo.
Ziziphi iimpawu eziphambili ze-RTS?
Ayingomntwana wonke one-RTS oza kuba nazo zonke ezi mpawu. Nangona kunjalo, kukho ezinye iimpawu eziqhelekileyo. Masizihlukanise zibe ziindidi ezimbini ezilula ukuziqonda.
| Uhlobo oluneempawu | Izinto onokuzibona |
|---|---|
| Iimpawu zeLiso | |
| Indawo yeliso | Iikona zangaphandle zamehlo ziyahla kwaye umgama phakathi kwamehlo uyanda. |
| Ijwabu leso | Ijwabu eligobileyo (i-Ptosis) . |
| Ishiya | Amashiya aphakamileyo kakhulu. |
| Iintsholongwane | Usulelo lwamehlo oluhlala lusenzeka ngenxa yokuvaleka kwemibhobho yokukrazula. |
| Ezinye iimpawu zomzimba (Iimpawu ezingezizo ezamehlo) | |
| Izandla neenyawo | Iinzwane ezinkulu nezinkulu zibanzi kunesiqhelo kwaye ngamanye amaxesha zigobile. |
| Ukukhula | Ubude obufutshane bubangelwa kukukhula kwamathambo okulibazisekileyo. |
| Intloko nobuso | Intloko encinci (iMicrocephaly) , impumlo efana nomlomo, ibhulorho ebanzi yempumlo, ukugoba kwenkalakatha ephezulu, umhlathi omncinci ongezantsi. |
| Ezinye iimpawu | Ubunzima bokutya, usulelo lokuphefumla rhoqo, iziphene zentliziyo, izintso, kunye nomqolo, ukukhula kweenwele ngokugqithisileyo, kunye namasende angaphakamanga kumakhwenkwe. |
Utshintsho olubonakalayo ekukhuleni nasekuziphatheni
Ukongeza kwiimpawu zomzimba, abantwana abane-RTS banokufumana ukulibaziseka okuthile kunye notshintsho ekukhuleni nasekuziphatheni.
Ukulibaziseka kwengqondo nokufunda
Abantwana abane-RTS banokuba nophuhliso olucothayo lwengqondo kunabantwana abaqhelekileyo. Ubungakanani bolu tshintsho buyahluka ukusuka komnye umntwana ukuya komnye. Abanye banokuba nolibaziseko oluncinci, ngelixa abanye banokuba nolibaziseko olunzima ngakumbi. Banokuba nobunzima bokuqiqa, ukufunda izinto ezintsha, kunye nokusombulula iingxaki. Oku kudla ngokubonakala xa umntwana eqala isikolo.
Ukulibaziseka kwizakhono zomzimba nezeemoto
Aba bantwana badla ngokuba nemisipha ebuthathaka . Oku kunokubangela ukulibaziseka kwimisebenzi yomzimba efana nokuqengqeleka, ukuhlala phantsi, nokuhamba. Basenokuba neengxaki zokulinganisela kunye nokulawula intshukumo.
Ukulibaziseka ekuthetheni nasekunxibelelaneni
Malunga ne-90% yabantwana abane-RTS banengxaki yokulibaziseka okukhulu ekuphuhlisweni kwentetho. Enye yeempawu zokuqala zoku ingaba kubunzima bokutya , njengoko ukutya nokuthetha kufuna ukulungelelaniswa kakuhle kwemisipha yomlomo nolwimi.
Khumbula, ayizizo zonke ezi ngxaki ezenzeka kumntwana ngamnye. Kwakhona, ezi zakhono zinokuphuhliswa ngonyango olufanelekileyo kunye nonyango.
Yintoni unobangela wale meko?
Xa bexelelwa ukuba esi sisifo semfuza, abanye abazali banokoyika ukuba esi sisifo abasizuze njengelifa.
Kubalulekile ukuqonda ukuba uninzi lwexesha, le meko ibangelwa kukuguquka kwezakhi zofuzo emzimbeni womntwana. Oku kuthetha ukuba ayizuzwa kumama okanye kutata. Ke ngoko, kwisibini esisempilweni esinomntwana one-RTS, umngcipheko wokuba umntwana wabo olandelayo afumane le meko ungaphantsi kwe-1%.
Nangona kunjalo, kunqabile kakhulu, ukuba omnye umzali une-RTS, kukho amathuba angama-50% okuba umntwana azuze i-gene. Oku kubangelwa ikakhulu lutshintsho kwi-genes ze -CREBBP kunye ne -EP300 .
Ungayichonga njani imeko ye-RTS?
Amaxesha amaninzi, ugqirha uya kuyixilonga le meko ngokuhlola iimpawu zomzimba zomntwana, ingakumbi iinzwane ezibanzi, amehlo ajonge ezantsi, kunye nenkalakahla ephakanyisiweyo.
Ukuqinisekisa olu xilongo, ngamanye amaxesha kwenziwa iimvavanyo ezongezelelweyo.
- Ii-X-reyi: Khangela utshintsho oluthile emathanjeni eengalo nemilenze.
- Iiskeni zobuchopho: Jonga umsebenzi wombane wengqondo.
- Uvavanyo lweMfuzo: Olu vavanyo lunokwenziwa ukuqinisekisa ukuba kukho utshintsho lwemfuza olunxulumene ne-RTS. Nangona kunjalo, abanye abantwana abane-RTS basenokungalufumani olu tshintsho lwemfuza ngovavanyo.
Abanye abantwana banokufunyaniswa xa bezalwa. Abanye bafunyaniswa kamva. Kuxhomekeke ekubeni iimpawu zinzima kangakanani na.
Zithini iindlela zonyango zoku?
Okokuqala, akukho nyango lwe-RTS, kodwa lunokulawulwa kwaye umntwana angaphila ubomi obuphumelelayo ngokuphuhlisa izakhono zakhe nokulawula iimpawu zakhe .
Isicwangciso sonyango simiselwa ziimpawu zomntwana. Lo ngumzamo weqela.
Oko kuthetha ukuba, hayi ugqirha omnye kuphela,Iingcali zabantwana, iingcali zentliziyo, iingcali zamathambo, iingcali zeendlebe, impumlo, kunye neengcali zokuthetha ziyasebenzisana ukucwangcisa unyango olungcono lomntwana.
Nazi ezinye zeendlela eziphambili zonyango:
- Ukuhlolwa rhoqo: Ukukhula komntwana kuhlolwa kusetyenziswa iitshathi zokukhula ezikhethekileyo. Kwakhona, amehlo neendlebe ziyajongwa minyaka le.
- Utyando: Ukuba iminwe neenzwane zigobile okanye kukho iziphene kumalungu omzimba afana nentliziyo okanye izintso, utyando lunokufuneka ukuze kulungiswe ezo ziphene.
- Iindlela zonyango: Oku kubaluleke kakhulu. Izinto ezifana ne -Speech Therapy, Physical Therapy, kunye ne-Behavioral Therapy zibaluleke kakhulu ukuthintela ukulibaziseka kokukhula komntwana.
- Imfundo Ekhethekileyo: Ukudlulisela umntwana kwiinkqubo zemfundo ekhethekileyo ezenzelwe izakhono zakhe zokufunda kuxhasa kakhulu uphuhliso lwakhe lwengqondo.
- Ucebisi ngezofuzo: Ucebisi ngezofuzo lubaluleke kakhulu ukunika iintsapho ukuqonda kakuhle imeko, amanyathelo ekufuneka athathwe, kunye nemingcipheko enxulumene nabantwana bexesha elizayo.
Eyona nto ibalulekileyo kukuba wena, njengomzali, ube nolwazi olupheleleyo ngemeko yomntwana wakho kwaye usebenzisane ngokusondeleyo neqela lezonyango elinyanga umntwana wakho.
Umyalezo Wokuya Ekhaya
- I-Rubinstein-Taybi Syndrome (RTS) yimeko engaqhelekanga yemfuza. Ngokuqhelekileyo ayibangelwa yimpazamo yabazali.
- Iimpawu eziphambili zibanzi kuneenzwane ezinkulu eziqhelekileyo, inkangeleko yobuso eyahlukileyo, kunye nokulibaziseka kokukhula.
- Nangona ingenakunyangwa ngokupheleleyo, kukho unyango olusebenzayo kakhulu lokulawula iimpawu kunye nokuphucula umgangatho wobomi bomntwana.
- Ukuqala unyango olufana nonyango lokuthetha kunye nonyango lomzimba kwangethuba kubaluleke kakhulu ekuphuhlisweni komntwana.
- Ukuba unamathandabuzo ngezi mpawu kumntwana wakho, ungoyiki, kodwa thetha nogqirha wakho okanye nogqirha wabantwana ngaloo nto.
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