Izici ze-Prader Willi syndrome nokuthi ungaphatha kanjani

-Delile

• Izici eziyinhloko
• Izingane nezingane kuze kube yiminyaka emibili
• Izingane nabantu abadala
• Yini ebangela lesi sifo
• Yelashwa kanjani

Isifo i-Prader-Willi isifo esingajwayelekile sezakhi zofuzo esidala izinkinga nge-metabolism, ushintsho ekuziphatheni, ukuqina kwemisipha nokubambezeleka kwentuthuko. Ngaphezu kwalokho, esinye isici esivame kakhulu ukubonakala kwendlala eyeqile ngemuva kweminyaka emibili, okungagcina kuholele ekukhuluphaleni nasesifo sikashukela.

Yize lesi sifo singelapheki, kukhona okunye ukwelashwa, njengokwelapha emsebenzini, ukwelashwa ngokomzimba kanye nokwelashwa kwengqondo okungasiza ekwehliseni izimpawu futhi kunikeze impilo engcono.

Izici eziyinhloko

Izici zesifo sikaPrader-Willi ziyahlukahluka kakhulu kusukela enganeni kuye kwengane futhi zivame ukwehluka ngokweminyaka yobudala:

Izingane nezingane kuze kube yiminyaka emibili

• Ubuthakathaka bemisipha: imvamisa kuholela ekutheni izingalo nemilenze kubonakale kuyicala kakhulu;
• Kunzima ukuncelisa: kwenzeka ngenxa yobuthakathaka bemisipha evimbela ingane ekudoneni ubisi;
• Ukunganaki: ingane ibukeka ikhathele njalo futhi inempendulo encane eshukumisweni;
• Izitho zangasese ezingakathuthuki: ngosayizi abancane noma abekho.

Izingane nabantu abadala

• Indlala eyeqile: ingane ihlala idla futhi ngobuningi bayo, ngaphezu kokufuna njalo ukudla emakhabetheni noma kudoti;
• Ukubambezeleka kokukhula nentuthuko: kujwayelekile ukuthi ingane ibe mfushane kunokujwayelekile futhi ibe nemisipha emincane;
• Ubunzima bokufunda: kuthatha isikhathi eside ukufunda ukufunda, ukubhala noma ukuxazulula izinkinga zansuku zonke;
• Izinkinga zokukhuluma: ukubambezeleka ekukhulumeni amagama, noma usumdala;
• Ukukhubazeka emzimbeni: njengezandla ezincane, i-scoliosis, izinguquko esimweni sezinqulu noma ukungabi bikho kombala ezinwele nasesikhunjeni.

Ngaphezu kwalokho, kusesejwayeleke kakhulu ukuba nezinkinga zokuziphatha njengokuba nesimo sengqondo esivamile sentukuthelo, ukwenza izindlela eziphindaphindayo kakhulu noma ukwenza ngolaka lapho okuthile kunqatshelwa, ikakhulukazi endabeni yokudla.

Yini ebangela lesi sifo

IPrader-Willi syndrome ivela lapho kuba noshintsho ezingxenyeni zofuzo zengxenye ekwi-chromosome 15, ebeka engcupheni imisebenzi ye-hypothalamus futhi edale izimpawu zesifo selokhu kwazalwa ingane. Imvamisa, ushintsho ku-chromosome lutholwa ngofuzo kubaba, kepha kukhona nezimo lapho kwenzeka ngokungahleliwe.

Ukuxilongwa kuvame ukwenziwa ngokubheka izimpawu nokuhlolwa kofuzo, okukhonjiswe ezinganeni ezisanda kuzalwa ezinethoni ephansi yemisipha.

Yelashwa kanjani

Ukwelashwa kwe-Prader-Willi syndrome kuyahluka ngokuya ngezimpawu nezimpawu zengane, ngakho-ke, kungadingeka ithimba lezinto eziningana zezokwelapha, ngoba izindlela zokwelashwa ezahlukahlukene zingadingeka, njenge:

• Ukusetshenziswa kwe-hormone yokukhula: ijwayele ukusetshenziselwa izingane ukukhuthaza ukukhula, ukwazi ukugwema ubude obufushane nokwenza ngcono amandla emisipha;
• Ukubonisana ngokudla okunomsoco: kusiza ukulawula imizwa yendlala futhi kuthuthukise ukukhula kwemisipha, kunikeze izakhi ezidingekayo;
• Ukwelashwa kwamahomoni ezocansi: zisetshenziswa lapho kukhona ukubambezeleka ekukhuleni kwezitho zocansi zengane;
• Ukwelashwa kwengqondo: kusiza ukulawula izinguquko ekuziphatheni kwengane, kanye nokuvimbela ukuvela kwezinkanuko zokulamba;
• Ukwelashwa kwenkulumo: Lokhu kwelashwa kuvumela ukwenza intuthuko ethile ehlobene nolimi kanye nezindlela zokuxhumana zalaba bantu.
• Umsebenzi womzimba: Ukuvivinya umzimba njalo kubalulekile ukulinganisela isisindo somzimba nokuqinisa imisipha.
• I-Physiotherapy: Ukwelashwa ngokomzimba kuthuthukisa ithoni yemisipha, kuthuthukisa ibhalansi futhi kuthuthukise amakhono emoto amahle.
• Ukwelashwa emsebenzini: Ukwelashwa emsebenzini kunikeza iziguli zikaPrader-Willi ukuzimela okukhulu nokuzimela emisebenzini yansuku zonke.
• Ukusekelwa kwengqondo: Ukwesekwa ngokwengqondo kubalulekile ukuqondisa lowo muntu kanye nomndeni wakhe ukuthi angabhekana kanjani nokuziphatha okuphoqelela ngokweqile nokuphazamiseka kwemizwelo.

Ziningi ezinye izindlela zokwelashwa ezingasetshenziswa, ezivame ukunconywa udokotela wezingane ngemuva kokubona izici nokuziphatha kwengane ngayinye.