Ngaba umntwana wakho omncinci uyakuthanda ukuba nobuhlobo? Ngaba uyancuma aze athethe nomntu wonke adibana naye, kwaye unobuhlobo ngendlela emangalisayo? Mhlawumbi uqaphele ukuba unenkangeleko yobuso eyahlukileyo kancinci kwabanye abantwana. Ukuba, kunye nezi zinto, kukho ukulibaziseka okuncinci kokukhula kunye neengxaki zentliziyo emntwaneni, sithetha ngemeko engaqhelekanga yemfuza enokuba yimbangela. Musa ukoyika emva kokufunda oku. Olu lwazi luya kukunceda ukuba uqonde ngcono oku.
Yintoni iWilliams Syndrome?
Ngamafutshane, iWilliams Syndrome (WS) yimeko engaqhelekanga yemfuza . Ibangelwa lutshintsho oluncinci kakhulu kwiimfuza zethu. Umntwana onesi sifo unokuba neengxaki kwiindawo ezahlukeneyo zomzimba, ingakumbi amalungu anjengemithambo yegazi, intliziyo kunye nezintso. Bakwanazo neempawu zobuso ezikhethekileyo, iingxaki zokufunda kunye neempawu zobuntu ezikhethekileyo.
Into ebalulekileyo kukuba nangona kungekho nyango lupheleleyo loku, ngonyango olufanelekileyo kunye nenkxaso, iimpawu zomntwana zinokulawulwa kwaye zinokunceda kakhulu ukoyisa imingeni yobomi bemihla ngemihla.
Umahluko phakathi kweDown Syndrome kunye neWilliams Syndrome
Zombini ziimeko zemfuza. Zombini zinokubangela iingxaki kwintliziyo nakwinkqubo yemithambo-luvo. Kodwa izizathu zezi zifo zimbini zahlukile. I-Down syndrome ibangelwa yikopi eyongezelelweyo yento ebizwa ngokuba yi-chromosome kwiiseli zomzimba wethu. I-Williams syndrome ibangelwa kukulahleka kwenxalenye encinci ye-chromosome .
Yintoni ebangela isifo sikaWilliams?
Cinga ngemizimba yethu njengencwadi enkulu yemiyalelo. Amaphepha ale ncwadi abizwa ngokuba zii-chromosomes. Kukho amaphepha angama-46 anjalo (ii-23 pairs) kwiseli nganye yethu. Kukwiphepha lesixhenxe lale ncwadi (i-Chromosome 7) apho kubhalwe khona inani elikhulu lemiyalelo yokwakha imizimba yethu.
Umntwana one-Williams syndrome uzalwa engenalo icandelo elincinci kweli phepha lesixhenxe, eliqulethe malunga ne-25 okanye i-27 yezakhi zofuzo. Kufana nokuba iqhekeza elincinci lephepha kwincwadi yemiyalelo likrazulwe. Iimpawu umntwana azibonisayo zixhomekeke ekubeni zeziphi zezakhi zofuzo ezilahlekileyo ezikhoyo. Umzekelo, ukuba i-gene ebizwa ngokuba yi-'ELN' ayikho, inokubangela iingxaki entliziyweni nakwimithambo yegazi.
Oku akungomcimbi kamama okanye utata. Uninzi lwexesha, kubangelwa lutshintsho olungalindelekanga ekukhuleni kwesidoda okanye iqanda. Oko kukuthi, kwenzeka ngokungacwangciswanga ngokupheleleyo . Amaxesha amaninzi, ukuba omnye wabazali unale meko, umntwana naye unokuyifumana njengelifa.
Kuqheleke kangakanani oku?
Esi sisifo esingaqhelekanga kakhulu. Sidla ngokuchaphazela umntu omnye kubantu abayi-7,500 ukuya kwi-10,000.
Zithini ezi mpawu?
Ayingabo bonke abantwana abaneWilliams syndrome abafanayo. Abanye banokuba neempawu ezimbalwa, ngelixa abanye banokuba neempawu ezininzi. Kwaye ubukhali bazo bungahluka. Makhe sijonge iimpawu eziphambili.
| Uhlobo oluneempawu | Izinto onokuzibona |
|---|---|
| Iimpawu zobuso ezikhethekileyo | Ibunzi elibanzi, impumlo emfutshane ejonge phezulu, umlomo obanzi onemilebe epheleleyo, isilevu esincinci, imibimbi ekhoneni lamehlo, kunye nephethini emhlophe yeenkwenkwezi ejikeleze amhlophe amehlo. Abanye abantwana banamazinyo amancinci, izithuba phakathi kwamazinyo, okanye amazinyo agobileyo. |
| Ubuntu obukhethekileyo | Ukuba ngumntu othanda ukunxibelelana nabantu, ukuba nobuhlobo kakhulu nakubantu ongabaziyo, ukuqonda iimvakalelo zabanye kakuhle (uvelwano), ukuxhalaba kakhulu kunye nokoyika izinto ezahlukeneyo (ii-phobias), ubunzima bokulawula iimvakalelo. I-ADHD nayo ixhaphakile. |
| Ukulibaziseka kophuhliso | Ubunzima obuphantsi bokuzalwa, ubunzima bokuncancisa, ukulibaziseka kokukhula nokunyuka kobunzima. Ukulibaziseka kokuhlala, ukuhamba, njl. Ubunzima bokusebenza kakuhle kwemisipha efana nokubamba ipeni. |
| Iingxaki zentliziyo kunye nemithambo yegazi | Iimeko ezinje ngokuncitshiswa komthambo oyintloko (i-aorta) othwala igazi ukusuka entliziyweni ukuya emzimbeni (i-Supravalvular aortic stenosis - SVAS), ukuncitshiswa komthambo othwala igazi ukuya emiphungeni (i-pulmonary stenosis), uxinzelelo lwegazi oluphezulu, kunye nokubetha kwentliziyo okungaqhelekanga (i-arrhythmia) zixhaphakile. Ezi ziimpawu zokuqala ezibonwayo. |
| Ezinye iingxaki zempilo | Ukwanda kwamanqanaba e-calcium egazini, usulelo lwendlebe oluhlala lukho, i-scoliosis, iingxaki zezintso, iingxaki zamalungu namathambo, ukurhawuzelela, kunye nokufikisa kwasekuqaleni. |
Umahluko ekufundeni
Malunga nama-75% abantwana abane-Williams syndrome banokuba nokukhubazeka kwengqondo okuncinci. Oku kunokubangela ubunzima bokufunda. Kwelinye icala, aba bantwana baneenkumbulo ezimangalisayo . Basenokuba nezakhono zolwimi nezokuthetha, izakhono zokufunda, kwaye ingakumbi italente enkulu yomculo .
Yenziwa njani le nto yokuxilonga?
Ugqirha wakho uza kuqala ahlole umntwana wakho, abuze ngembali yakhe yempilo yosapho, aze anike ingqalelo kuzo naziphi na iimpawu ezikhethekileyo ebusweni bakhe.
Ukuba kukho iWilliams syndrome erhanelwayo, uvavanyo lwegazi lunokufuneka ukuze kuqinisekiswe ukuba ikhona. Kukho iindlela ezimbini eziphambili zokwenza oku:
1. Uvavanyo lweNtlanzi (iFluorescence in situ hybridization): Olu vavanyo lukhangela ngokuthe ngqo ijini elahlekileyo ethi `ELN` kwi-chromosome 7. Uninzi lwabantu abane-Williams syndrome abanalo olu jini.
2. I-Chromosome microarray: Olu luvavanyo lwanamhlanje nolusetyenziswa kakhulu. Lujonga zonke ii-chromosomes zomntwana kwaye lubone ukuba kukho na inxalenye ye-DNA engekhoyo. Lungachonga nokuba zeziphi ii-genes ezingekhoyo, nto leyo enika ugqirha umbono ongcono weempawu umntwana anokuba nazo.
Ukongeza, uvavanyo olongezelelweyo lunokufuneka ukuze kuchongwe imeko yangaphakathi yomzimba womntwana.
- Uvavanyo lwe-EKG okanye i-Ultrasound scan ukuze kujongwe iingxaki zentliziyo.
- I-ultrasound scan ukujonga imeko yezintso kunye nesinyi.
- Ukujonga amanqanaba e-calcium egazini okanye emchameni.
Iphathwa njani?
Njengoko besitshilo ngaphambili, le meko ayinakunyangwa ngokupheleleyo. Nangona kunjalo, unyango lunokunceda ukulawula iimpawu kwaye luncede umntwana aphile ubomi obulungileyo. Oku kufuna uncedo lweengcali ezahlukeneyo.
- Ingcali yentliziyo: Ngeengxaki zentliziyo.
- Ingcali ye-Endocrinologist: Ngeengxaki ezinxulumene namahomoni kunye namanqanaba e-calcium.
- Ingcali yeNdlebe, Impumlo kunye noMqala (Ugqirha we-ENT): Ngezifo zendlebe.
- Ingcali yonyango lomzimba: Ukuphucula intshukumo yomzimba kunye namandla emisipha.
- Ingcali yentetho kunye nolwimi: Ukuphucula izakhono zokuthetha kunye nolwimi.
Unyango lunokubandakanya ukutya okunciphisa amanqanaba e-calcium egazini, amayeza oxinzelelo lwegazi, iinkqubo zemfundo ekhethekileyo, kwaye, ukuba kuyimfuneko, utyando lwemithambo yegazi okanye lwentliziyo. Konke oku kumiselwa ngugqirha wakho .
Ungenza ntoni njengomzali?
Kuqhelekile ukuba uzive uxinezelekile xa ufumanisa ukuba umntwana wakho une-Williams syndrome. Kodwa ezi nyaniso ziya kukunceda.
- Nika umntwana wakho uthando oluninzi: mvumele ahlole ihlabathi ngokwezakhono zakhe kunye nesantya sakhe.
- Hlala unxibelelana rhoqo noogqirha: Hlala usenza uhlolo lwezonyango ukuze ujonge impilo yomntwana wakho.
- Funa inkxaso eyongezelelweyo esikolweni: Thetha nootitshala kunye nenqununu yesikolo malunga nezicwangciso ezikhethekileyo ezifunekayo kwimfundo yomntwana wakho.
- Fumana ulwazi: Funda kangangoko unako ngale meko ukuze ukwazi ukummela umntwana wakho ngokufanelekileyo.
- Nxibelelana nabanye: Thetha nabanye abazali abanabantwana abanjengalaba. Buza ugqirha wakho malunga namaqela enkxaso.
- Cinga nawe: Nyamekela impilo yakho yengqondo neyomzimba ngelixa unyamekela umntwana wakho. Ukuba uziva udiniwe, ungathandabuzi ukucela uncedo.
| Ixesha lokufuna ingcebiso kwezonyango | |
|---|---|
| Bona ugqirha rhoqo. | Yiya kwiYunithi yoNyango oluNgxamisekileyo (ETU) yesibhedlele ngoko nangoko. |
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Ukuba unamathandabuzo okanye uloyiko ngomntwana wakho, musa ukumtyeshela. Uyayazi kakuhle umntwana wakho. Ngoko ke funa ingcebiso kagqirha ngokukhawuleza.
Umyalezo Wokuya Ekhaya
- I-Williams syndrome ayibangelwa ngumama okanye ngutata. Lutshintsho oluzenzekelayo kwimfuza.
- Abantwana abanale meko banokubonakalisa iimpawu ezifana neempawu zobuso ezahlukileyo, ubuntu obunobuhlobo kakhulu, iingxaki zokufunda, kunye neengxaki zentliziyo.
- Nangona kungekho nyango lupheleleyo loku, kukho unyango olusebenzayo kakhulu lokulawula iimpawu.
- Ngothando nenkxaso yoogqirha abaziingcali, iingcali zonyango, ootitshala kunye nabazali, aba bantwana banokuphila ubomi obunempumelelo nobonwabisayo.
- Ukuba unenkxalabo ngomntwana wakho, ungaze uyityeshele loo nto kwaye uthethe nogqirha wakho ngoko nangoko.
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