I-Chromosome 15 Disorder
I-Prader-Willi syndrome ibangelwa ukukhubazeka kofuzo lwe-chromosome 15. Kuyinto ingavamile ukugula okukhona lapho kuzalwa okuholela ezinkingeni eziningana ezingokwenyama, kwengqondo nokuziphatha. Isici esiyinhloko se-Prader-Willi syndrome yisisindo esilapho esivame ukuqala cishe eminyakeni emibili ubudala.
Abantu abane-Prader-Willi syndrome bafuna ukudla njalo ngenxa yokuthi abazizwa begcwele (hyperphagia) futhi ngokuvamile banenkinga yokulawula isisindo sabo.
Izinkinga eziningi ze-Prader-Willi syndrome zibangelwa ukukhuluphala.
Uma wena noma ingane yakho unesifo se-Prader-Willi syndrome, iqembu lezazi lingasebenza nawe ukuphatha izimpawu, ukunciphisa ingozi yokuthuthukisa izinkinga, nokuthuthukisa ikhwalithi yokuphila.
U-Prader-Willi utholakala cishe kubantu abangu-12 000 kuya ku-15 000, kubo bobabili abafana namantombazane, nakwabantu bazo zonke izinhlanga. I-Prader-Willi syndrome ivame ukutholwa ukubonakala nokuziphatha komntwana, bese kuqinisekiswa ukuhlolwa okukhethekile kwezakhi zofuzo zesampula segazi. Nakuba kungavamile, i-Prader-Willi syndrome iyimbangela ejwayelekile kunazo zonke yezakhi zofuzo zokukhuluphala.
Izimpawu ze-Prader-Willi Syndrome
Ekuqaleni, usana olune-Prader-Willi syndrome luzokhula lukhuni futhi lube nesisindo (ukwehluleka ukukhula). Ngenxa yemisipha ebuthakathaka (i-hypotonia), usana alukwazi ukuphuza ebhodleleni futhi lungadinga amasu okuphakelayo akhethekile noma ukuxhaswa kwe-tube kuze kube yilapho imisipha yakhe iqina.
Izinsana ezine-Prader-Willi syndrome zivame ukushiya ezinye izingane ekuthuthukisweni.
Phakathi kweminyaka engama-1-6 ubudala ingane ene Prader-Willi syndrome ivele ibe nesithakazelo esikhulu ekudleni futhi iqala ukudla okudliwayo. Kukholelwa ukuthi ingane noPrader-Willi akasoze azizwa egcwele ngemva kokudla, futhi empeleni angadla ukudlala amabhayingi.
Abazali bezingane ezine-syndrome bavame ukukhiya amakhabethe ekhishi nesiqandisini ukuvimbela ukufinyelela kwengane ekudleni. Izingane zithola isisindo ngokushesha kule minyaka.
Izinga lokukhula livumela
Ngaphezu kokudla ngokweqile, ingane ne Prader-Willi iyeka ukukhula ngesilinganiso esivamile. Ingane kancane kancane ifinyelela isikhathi sakhe, futhi ngenxa yokudla ngokweqile iba ngokweqile ngokweqile.
Izingane ezine-Prader-Willi syndrome zinezinkinga ze- endocrine kuhlanganise nokunciphisa noma ukungabikho kwe-hormone yezocansi (hypogonadism) nokulibaziseka noma ukupheleliswa ngokocansi okungaphelele. Izingane ezine-syndrome nazo zingase zibe nokunciphisa kwengqondo noma ukutadisha kwengqondo ngokulinganisela futhi zingabi nezinkinga zokuziphatha ezifana nokuphoqa, ukucindezelwa, inkani, nokufutheka.
Izici ezibonakalayo zobuso
Izici zobuso ezihlukile zikhomba ingane ene Prader-Willi syndrome. Lezi zihlanganisa ubuso obuncane, amehlo a-alimondi, umlomo omncane, umlomo ophansi omncane onomlomo omncane, kanye nezihlathi ezigcwele. Amehlo wengane angase awele (strabismus).
Ukwelashwa kwe-Prader-Willi Syndrome
Ayikho ikhambi le-Prader-Willi syndrome. Kodwa-ke, izinkinga zomzimba ezibangelwa yi-syndrome zingaphathwa. Ngesikhathi sokusana, amasu akhethekile okudla kanye namafomu angasiza ingane ukuba ikhule.
Ukwelashwa ngokomzimba nokuzivocavoca umzimba kusiza ukuthuthukisa amandla nokusebenzisana. Ukulawula i-hormone yokukhula komuntu (i-Genotropin, i-Humatrope, i-Norditropin) ithuthukisa imisipha nokukhula.
Ukwelashwa kwenkulumo kungasiza izingane ezingemva kwamakhono abo olimi ukuba zifinyelele kubangane babo. Izinsizakalo zemfundo ekhethekile nezesekelo zisiza izingane ne Prader-Willi zifeze amandla azo.
Njengoba ingane ikhula, ukudla nezinkinga zesisindo kungalawulwa ngokudla okulinganiselayo, okuphansi kwekhalori, ukuqapha kwesisindo, ukuvinjelwa kokudla kwangaphandle, nokuzivocavoca nsuku zonke.
> Imithombo:
> I-Mayo Clinic. I-Prader-Willi Syndrome
> Inhlangano Kazwelonke Yezinkinga Ezinzima. I-Prader-Willi Syndrome.
> I-Prader-Willi Syndrome Association (USA). Imibuzo Ebuzwa Ngokuvamile Nge-Prader-Willi Syndrome.
> Scheimann, A. (2006). I-Prader-Willi Syndrome. eMedicine.