Ingabe ingane yakho encane ithanda ukuhlangana nabantu? Ingabe iyamomotheka futhi ikhuluma nabo bonke abantu ehlangana nabo, futhi inobungane ngendlela emangalisayo? Mhlawumbe uqaphele ukuthi inokubukeka kobuso okuhlukile kancane kwabanye abantwana. Uma, kanye nalezi zinto, kukhona nokubambezeleka okuncane kokukhula nezinkinga zenhliziyo enganeni, sikhuluma ngesimo esingavamile sofuzo esingaba yimbangela. Ungesabi ngemva kokufunda lokhu. Lolu lwazi luzokusiza ukuthi ukuqonde kangcono lokhu.
Iyini i-Williams Syndrome?
Kalula nje, i-Williams Syndrome (WS) iyisimo esingavamile sofuzo . Sibangelwa ushintsho oluncane kakhulu ezizakhini zethu zofuzo. Ingane enalesi simo ingaba nezinkinga ezingxenyeni ezahlukene zomzimba, ikakhulukazi izitho ezifana nemithambo yegazi, inhliziyo nezinso. Futhi inezici zobuso ezihlukile, ukukhubazeka kokufunda kanye nezimpawu zobuntu ezihlukile.
Into ebalulekile ukuthi nakuba kungekho ikhambi eliphelele lalokhu, ngokwelashwa okufanele kanye nokusekelwa, izimpawu zengane zingalawulwa futhi zingasiza kakhulu ekunqobeni izinselele zokuphila kwansuku zonke.
Umehluko phakathi kwe-Down Syndrome ne-Williams Syndrome
Zombili ziyizimo zofuzo. Zombili zingabangela izinkinga ngenhliziyo kanye nohlelo lwezinzwa. Kodwa izimbangela zalokhu kokubili zihlukile. I-Down syndrome ibangelwa ikhophi eyengeziwe yento ebizwa ngokuthi i-chromosome emaseli omzimba wethu. I-Williams syndrome ibangelwa ukulahlekelwa yingxenye encane ye-chromosome .
Yini ebangela i-Williams syndrome?
Cabanga ngemizimba yethu njengencwadi enkulu yemiyalelo. Amakhasi ale ncwadi abizwa ngokuthi ama-chromosome. Kunamakhasi angu-46 anjalo (ama-pair angu-23) kuseli ngalinye lethu. Kusekhasini lesikhombisa lale ncwadi (i-Chromosome 7) lapho kubhalwa khona inani elikhulu lemiyalelo yokwakha imizimba yethu.
Ingane ene-Williams syndrome izalwa ingenaso ingxenye encane yaleli khasi lesikhombisa, eliqukethe izakhi zofuzo ezingaba ngu-25 noma 27. Kufana nokuthi ingxenye encane yekhasi encwadini yemiyalelo ikhishwe. Izimpawu ingane ezibonisayo zincike ekutheni yiziphi zalezo zakhi zofuzo ezingekho ezikhona. Isibonelo, uma isakhi sofuzo esibizwa ngokuthi 'ELN' singekho, singabangela izinkinga enhliziyweni nasemithanjeni yegazi.
Lokhu akulona iphutha likamama noma likababa. Esikhathini esiningi, kubangelwa ushintsho olungahleliwe ekukhuleni kwesidoda noma iqanda. Okusho ukuthi, kwenzeka ngokungahleliwe ngokuphelele . Akuvamile kakhulu, uma omunye wabazali enalesi simo, ingane nayo ingasizuza njengefa.
Kuvamile kangakanani lokhu?
Lesi yisimo esingavamile kakhulu. Ngokuvamile sithinta cishe umuntu oyedwa kubantu abayi-7,500 kuya kwabayi-10,000.
Ziyini lezi zimpawu?
Akuzona zonke izingane ezine-Williams syndrome ezifanayo. Ezinye zingase zibe nezimpawu ezimbalwa, kanti ezinye zingase zibe neziningi. Futhi ubukhali bazo bungahluka. Ake sibheke izimpawu eziyinhloko.
| Uhlobo oluyisici | Izinto okufanele uzibone |
|---|---|
| Izici zobuso ezikhethekile | Ibunzi elibanzi, impumulo emfushane ebheke phezulu, umlomo obanzi onezindebe ezigcwele, isilevu esincane, imibimbi emakhoneni amehlo, kanye nephethini emhlophe eqhuma izinkanyezi ezungeze amhlophe amehlo. Abanye abantwana banamazinyo amancane, izikhala phakathi kwamazinyo, noma amazinyo agobile. |
| Ubuntu obukhethekile | Ukuba ngumuntu othanda ukuhlangana nabantu nokukhuluma, ukuba nobungane ngokweqile ngisho nakubantu ongabazi, ukuqonda imizwa yabanye kahle (uzwela), ukukhathazeka ngokweqile nokwesaba izinto ezahlukene (ukwesaba), ubunzima bokulawula imizwa. I-ADHD nayo ivamile. |
| Ukulibaziseka kokukhula | Isisindo esiphansi sokuzalwa, ubunzima bokuncelisa, ukubambezeleka kokukhula kwesisindo. Ukubambezeleka kokuhlala, ukuhamba, njll. Ubunzima bokusebenza kahle kwemisipha njengokuphatha ipeni. |
| Izinkinga zenhliziyo nemithambo yegazi | Izimo ezinjengokuncishiswa komthambo oyinhloko (i-aorta) othwala igazi lisuka enhliziyweni liye emzimbeni (i-Supravalvular aortic stenosis - SVAS), ukuncishiswa komthambo othwala igazi emaphashini (i-pulmonary stenosis), umfutho wegazi ophakeme, kanye nokushaya kwenhliziyo okungajwayelekile (i-arrhythmia) kuvamile. Lezi yizimpawu zokuqala okufanele zibonwe. |
| Ezinye izinkinga zempilo | Amazinga e-calcium egazini akhuphukayo, izifo zendlebe ezivame ukwenzeka, i-scoliosis, izinkinga zezinso, izinkinga zamalunga namathambo, ukushaqeka, kanye nokuthomba kwasekuqaleni. |
Umehluko wokufunda
Cishe ama-75% ezingane ezine-Williams syndrome zingase zibe nokukhubazeka kwengqondo okuncane. Lokhu kungaholela ezinkingeni zokufunda. Ngakolunye uhlangothi, lezi zingane zinezinkumbulo ezimangalisayo . Zingase zibe namakhono olimi nokukhuluma, amakhono okufunda, kanye nethalente elikhulu kakhulu lomculo .
Kwenziwa kanjani ukuxilongwa?
Udokotela wakho uzoqala ahlole ingane yakho, abuze ngomlando wezokwelapha womndeni wayo, futhi aqaphele noma yiziphi izici ezikhethekile ebusweni bayo.
Uma kusolwa ukuthi i-Williams syndrome inesifo, kungacelwa ukuhlolwa kwegazi ukuze kuqinisekiswe. Kunezindlela ezimbili eziyinhloko zalokhu:
1. Ukuhlolwa kwe-FISH (i-Fluorescence in situ hybridization): Lokhu kuhlolwa kubheka ngqo i-gene engekho `ELN` ku-chromosome 7. Iningi labantu abane-Williams syndrome abanalo leli gene.
2. I-Chromosome microarray: Lolu uhlobo lokuhlola lwesimanje kakhulu futhi olusetshenziswa kakhulu. Lubheka wonke ama-chromosome omntwana futhi lubone ukuthi kukhona yini ingxenye ye-DNA engekho. Lungakhomba nokuthi yiziphi izakhi zofuzo ezingekho, okuzonikeza udokotela umbono ongcono wezimpawu ingane engase ibe nazo.
Ngaphezu kwalokho, kungase kudingeke ukuhlolwa okwengeziwe ukuze kutholakale isimo sangaphakathi somzimba wengane.
- Ukuhlolwa kwe-EKG noma i-Ultrasound scan kwezinkinga zenhliziyo.
- Ukuskena nge-ultrasound ukuhlola isimo sezinso kanye nesinye.
- Ukuhlola amazinga e-calcium egazini noma emchameni.
Iphathwa kanjani?
Njengoba sishilo ngaphambili, lesi simo asinakwelapheka ngokuphelele. Kodwa-ke, ukwelashwa kungasiza ekulawuleni izimpawu futhi kusize ingane iphile impilo enhle. Lokhu kudinga usizo lochwepheshe abahlukahlukene.
- Udokotela Wenhliziyo: Ngezinkinga zenhliziyo.
- Isazi se-Endocrinologist: Ngezinkinga ezihlobene nama-hormone namazinga e-calcium.
- Uchwepheshe Wezindlebe, Impumulo Nomphimbo (Udokotela Wezinzwa Zokuphefumula): Ngezifo zendlebe.
- Udokotela wezokwelapha ngokomzimba: Ukuthuthukisa ukunyakaza komzimba kanye namandla emisipha.
- Uchwepheshe wezokukhuluma nolimi: Ukuthuthukisa amakhono okukhuluma nolimi.
Ukwelashwa kungafaka ukudla okwehlisa amazinga e-calcium egazini, imithi yokucindezela kwegazi, izinhlelo zemfundo ekhethekile, futhi, uma kudingeka, ukuhlinzwa kwemithambo yegazi noma kwenhliziyo. Konke lokhu kunqunywa udokotela wakho .
Yini ongayenza njengomzali?
Kuvamile ukuzizwa ukhungathekile uma uthola ukuthi ingane yakho ine-Williams syndrome. Kodwa la maqiniso azokusiza.
- Nika ingane yakho uthando oluningi: mvumele ahlole umhlaba ngokwamakhono akhe kanye nesivinini sakhe.
- Hlala uxhumana nodokotela njalo: Hlola njalo ukuze uqaphe impilo yengane yakho.
- Funa ukwesekwa okwengeziwe esikoleni: Khuluma nothisha besikole kanye nothishanhloko mayelana nezinhlelo ezikhethekile ezidingekayo emfundweni yengane yakho.
- Thola ulwazi: Funda okuningi ngangokunokwenzeka ngalesi simo ukuze ukwazi ukumela ingane yakho ngendlela efanele.
- Xhumana nabanye: Khuluma nabanye abazali abanezingane ezinje. Buza udokotela wakho ngamaqembu okusekelana.
- Cabanga ngawe futhi: Nakekela impilo yakho yengqondo neyomzimba ngenkathi unakekela ingane yakho. Uma uzizwa ukhathele, ungangabazi ukucela usizo.
| Nini lapho kufanele uthole iseluleko sezokwelapha | |
|---|---|
| Bona udokotela njalo. | Yiya e-Emergency Treatment Unit (ETU) yesibhedlela ngokushesha. |
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Uma unokungabaza noma ukwesaba ngengane yakho, ungamshayi indiva. Uyazi kahle ingane yakho. Ngakho funa iseluleko sezokwelapha ngokushesha.
Umlayezo Wokuya Nawe Ekhaya
- I-Williams syndrome ayilona iphutha likamama noma likababa. Iwushintsho oluvela ngokungahleliwe lwezakhi zofuzo.
- Izingane ezinalesi simo zingase zibonise izici ezifana nezici zobuso ezihlukile, ubuntu obunobungane kakhulu, ukukhubazeka kokufunda, kanye nezinkinga zenhliziyo.
- Nakuba kungekho ikhambi eliphelele lalokhu, kunezindlela zokwelapha eziphumelela kakhulu zokulawula izimpawu.
- Ngothando nokusekelwa odokotela abangochwepheshe, abelaphi, othisha, nabazali, laba bantwana bangaphila impilo ephumelelayo nejabulisayo.
- Uma unenkinga ethile ngengane yakho, ungalokothi uyishaye indiva bese ukhuluma nodokotela wakho ngokushesha.
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