Njengomzali, wake wazizwa sengathi ingane yakho ihlukile kancane kwezinye izingane? Mhlawumbe iphuzile ukukhuluma, noma mhlawumbe ithatha isikhathi eside ukufunda okuthile okusha. Kungaba nezizathu eziningi zalokhu. Kodwa namuhla sizokhuluma ngesimo esikhethekile sezakhi zofuzo esingabangela isimo esinjalo, kodwa esingakhulunywa ngaso kakhulu emphakathini wethu. Leso yi -Fragile X Syndrome .
Kalula nje, iyini i-Fragile X Syndrome?
Lesi yisimo sofuzo. Lokhu kusho ukuthi sidluliselwa kusuka esizukulwaneni kuya kwesinye. Lesi simo singathinta ukufunda kwengane, ukuziphatha, ukubukeka kwayo, kanye nempilo yayo iyonke. Ezinye izingane zingase zibe nezimpawu ezincane kakhulu, kanti ezinye zingase zithinteke kakhulu. Ngokuvamile, abafana bathinteka kakhulu kunamantombazane .
Izingane ezizalwa nalesi simo zingase zibe nezinkinga zokukhula, njengokukhubazeka kokufunda kanye nokukhubazeka kwengqondo. Kodwa ungakhathazeki. Ngokwelashwa okufanele, imfundo ekhethekile, kanye nokwelashwa, lezi zingane zingafunda futhi zithuthuke ngokugcwele.
Ziyini izimpawu zalesi simo?
Ingane ene-Fragile X ingabonisa izimpawu ezahlukahlukene. Ezinye zezimpawu ziwukuziphatha, kanti ezinye zingokomzimba. Ake sibheke lezi ngokwehlukana.
| Uhlobo oluyisici | Izici ezivamile zibonwe |
|---|---|
| Izinkinga zokufunda nokuziphatha |
|
| Izici ezibonakalayo ngokomzimba |
Into ebalulekile ukuthi akuzona zonke lezi zimpawu ezenzeka kuyo yonke ingane. Futhi, ukuba nalezi zimpawu akusho ukuthi ingane ine-Fragile X. Kubalulekile ukubona udokotela ukuze uthole ukuxilongwa okunembile.
Ukuxhumana phakathi kwe-Fragile X ne-autism
Kukhona ukuxhumana phakathi kwalezi zimo ezimbili. Cishe u-40% wezingane ezine-Fragile X nazo zingase zibe ne-autism. Futhi, cishe u-80% wezingane zingase zibe nezinkinga zokunaka, njenge-'ADD' noma i-'ADHD'.
Lesi simo sidluliselwa kanjani ezizukulwaneni ngezizukulwane?
Lokhu kuyinkimbinkimbi kancane, kodwa ngizokuchaza kalula.
Njengoba wazi, konke emzimbeni wethu kulawulwa izakhi zofuzo. Lesi simo sibangelwa ukuguquka kwezakhi zofuzo okuthiwa i-FMR1 . Lesi sakhi sofuzo sitholakala ku-X chromosome . Iphrotheni eyenziwe yile sakhi sofuzo se-FMR1 ibalulekile ukuze amangqamuzana ezinzwa ebuchosheni akwazi ukuxhumana. Le phrotheni iyadingeka ukuze ubuchopho bengane bukhule kahle.
Izingane ezine-Fragile X zikhiqiza iphrotheni encane kakhulu noma azikhiqizi nhlobo le emizimbeni yazo.
Cabanga nje, kukhona ingxenye ebizwa ngokuthi 'i-CGG' kulesi sakhi sofuzo se-FMR1. Kumuntu ophilile, le ngxenye iphindwa izikhathi ezi-5 kuya kwezingama-40 kuphela. Kodwa enganeni ene-Fragile X, le ngxenye iphindwa izikhathi ezingaphezu kuka-200 . Lapho lokhu kuphindaphinda kwenzeka kaningi, kulapho izimpawu zingaba zimbi kakhulu khona.
Uvela kubani lo mntwana?
- Kumama: Uma umama engumthwali walesi sakhi sofuzo se-FMR1 esishintshiwe, ingane yakhe (kungakhathaliseki ukuthi iyindoda noma intombazane) inethuba elingu-50% lokuba nalesi simo.
- Kubaba: Uma ubaba enalesi sakhi sofuzo, izingane zabesifazane kuphela ezizosizuza kuye. Izingane zesilisa azilizuzi leli sakhi sofuzo ngoba zithola i-chromosome Y kuyise.
Yingakho abafana bethinteka kakhulu yilesi simo. Njengoba amantombazane ene-chromosome ezimbili ze-X, noma ngabe enye inenkinga, enye i-chromosome ye-X enempilo ingalawula umonakalo ngezinga elithile.
Ukuxilongwa kanye nokwelashwa
Azikho izici eziyingozi ezingalawulwa. Ingozi enkulu umlando womndeni walesi simo. Ngakho-ke, uma othile emndenini wakho enomlando wokukhubazeka kokufunda noma i-autism, ungase ufune ukukhuluma nodokotela wakho mayelana nokuthola ukwelulekwa ngofuzo ngaphambi kokuba nomntwana.
Ungasithola kanjani lesi sifo?
- Ngesikhathi sokukhulelwa: Lokhu kungahlolwa ngisho nangaphambi kokuba umntwana azalwe. Ukuhlolwa okubizwa ngokuthi i-amniocentesis (ukuhlola uketshezi lwe-amniotic esibelethweni) noma i-chorionic villus sampling (CVS) (ukuhlola ucezu lwe-placenta) kungasetshenziswa ukubona ukuthi kukhona yini ukuguqulwa kwezakhi zofuzo ze-FMR1.
- Ngemva kokuzalwa: Lesi simo singahlolwa ngokunembile ngokuhlolwa kwegazi okulula okwenziwa ngemva kokuzalwa komntwana.
Yiziphi izindlela zokwelapha?
Okokuqala, khumbula ukuthi alikho ikhambi le-Fragile X okwamanje. Kodwa-ke, kunezindlela eziningi zokwelapha ezingasiza ekulawuleni izimpawu futhi zisize ingane iphile impilo engcono. Uma lezi zindlela zokwelapha ziqalwa ngokushesha, imiphumela iba mihle.
| Izindlela zokwelapha kanye nokuphatha | |
|---|---|
| Ukwelapha |
|
| Imfundo kanye nemvelo | |
| Imithi | Udokotela angase anikeze imithi yokulawula izimo ezifana nokuquleka, i-attention deficit hyperactivity disorder (ADHD), ukukhathazeka, kanye nokucindezeleka. Unganiki ingane yakho noma yimuphi umuthi ngaphandle kweseluleko sikadokotela. |
Sinjani isimo lapho umuntu esekhulile?
I-Fragile X iyisimo esihlala isikhathi eside. Kodwa-ke, ngokusekelwa nokwelashwa okufanele, abantu abaningi baphila impilo ephumelelayo. Cishe ingxenye yesithathu yabesifazane ingaphila ngokuzimela. Amadoda ngokuvamile adinga ukwesekwa okwengeziwe.
Lesi simo asifinyezi isikhathi sabo sokuphila. Banesikhathi sokuphila esifanayo nesomuntu ophilile. Into ebalulekile ukuqaphela amakhono abo nokubakhuthaza ngokufanele.
Umlayezo Wokuya Nawe Ekhaya
- I-Fragile X syndrome yisimo sofuzo esidluliselwa ezizukulwaneni ngezizukulwane. Asibangelwa yiphutha lanoma ubani.
- Lokhu kuvame ukuthinta abafana kakhulu.
- Kungafaka phakathi ubunzima bokufunda, ukubambezeleka kokukhuluma, izinkinga zokuziphatha, kanye nezinye izimpawu zomzimba.
- Kubaluleke kakhulu ukuxilonga lesi sifo kusenesikhathi bese uqala ukwelashwa okufanele (inkulumo, umsebenzi, ukwelashwa kokuziphatha) kwengane.
- Nakuba kungekho ikhambi eliphelele lalokhu, ngokuphathwa okufanele nokusekelwa ngothando, ingane ingasizwa ukuba iphile impilo enenjongo nejabulisayo.
- Uma unenkinga mayelana nokukhula kwengane yakho, khuluma nodokotela wezingane (udokotela) ngokushesha.
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