Iimpawu zePrader Willi syndrome kunye nendlela yokunyanga

Umxholo

• Iimpawu eziphambili
• Iintsana nabantwana ukuya kuthi ga kwiminyaka emibini
• Abantwana kunye nabantu abadala
• Yintoni ebangela isifo
• Unyango lwenziwa njani

Isifo i-Prader-Willi sisifo esinqabileyo semfuza esibangela iingxaki kwimetabolism, utshintsho kwindlela yokuziphatha, ukungxama kwezihlunu kunye nokulibaziseka kophuhliso. Ukongeza, enye into exhaphake kakhulu kukuvela kwendlala enkulu emva kweminyaka emibini, enokuthi ikhokelele ekutyebeni kakhulu nakwisifo seswekile.

Nangona le syndrome ingenanyango, lukhona unyango, njengonyango lomsebenzi, unyango lomzimba kunye nonyango lwengqondo olunokunceda ukunciphisa iimpawu kunye nokubonelela ngobomi obulunge ngakumbi.

Iimpawu eziphambili

Iimpawu zesifo sikaPrader-Willi ziyahluka kakhulu ukusuka emntwaneni kuye emntwaneni kwaye zihlala zahlukile ngokobudala:

Iintsana nabantwana ukuya kuthi ga kwiminyaka emibini

• Ubuthathaka bemisipha: ihlala ikhokelela ekubeni iingalo kunye nemilenze ibonakala iflaccid kakhulu;
• Ubunzima bokuncancisa: kwenzeka ngenxa yobuthathaka bemisipha ethintela umntwana ekutsaleni ubisi;
• Ukungakhathali: usana lubonakala ngathi ludiniwe kwaye alunampendulo incinci kwisistim;
• Ilungu lesini elingaphuhliswanga: ngobukhulu obuncinci okanye obungabikhoyo.

Abantwana kunye nabantu abadala

• Ukulamba kakhulu: umntwana uhlala esitya kwaye eninzi, ukongeza ekufuneni ukutya rhoqo kwiikhabhathi okanye kwinkunkuma;
• Ukulibaziseka kokukhula nophuhliso: kuqhelekile ukuba umntwana abe mfutshane kunesiqhelo kwaye abe nemisipha encinci;
• Ubunzima bokufunda: ukuthatha ixesha elide ukufunda ukufunda, ukubhala okanye nokusombulula iingxaki zemihla ngemihla;
• Iingxaki zentetho: ukulibaziseka ekuchazeni amagama, nokuba sele umdala;
• Iziphene emzimbeni: njengezandla ezincinci, i-scoliosis, utshintsho kwimilo yesinqe okanye ukungabikho kombala kwizinwele nolusu.

Ukongeza, kuqhelekile ukuba neengxaki zokuziphatha ezinje ngokuhlala unomsindo, ukuphindaphinda okuphindaphindiweyo okanye ukwenza ngobundlongondlongo xa kunqatshelwa into, ngakumbi kwimeko yokutya.

Yintoni ebangela isifo

Isifo sePrader-Willi sivela xa kukho utshintsho kwicandelo kwi-chromosome 15, ebeka emngciphekweni imisebenzi yehypothalamus kwaye ibangele iimpawu zesi sifo ukusukela ekuzalweni komntwana. Ngokwesiqhelo, utshintsho kwi-chromosome luza ilifa kutata, kodwa kukwakho iimeko apho zenzeka ngokungahleliwe.

Ukuxilongwa kuhlala kwenziwa ngokujonga iimpawu kunye novavanyo lofuzo, kubonisiwe kwiintsana ezinethoni ephantsi yemisipha.

Unyango lwenziwa njani

Unyango lwe-Prader-Willi syndrome luyahluka ngokweempawu zomntwana kunye neempawu, kwaye ke, iqela lezonyango ezininzi zinokufuneka, kuba iindlela ezahlukeneyo zonyango zinokufuneka, ezinje:

• Ukusetyenziswa kwehommone yokukhula: iqhele ukusetyenziswa ebantwaneni ukukhuthaza ukukhula, ukukwazi ukunqanda ubude obufutshane kunye nokuphucula amandla emisipha;
• Ukubonisana ngesondlo: kunceda ukulawula iimpembelelo zendlala kunye nokuphucula ukukhula kwezihlunu, ukubonelela ngezondlo eziyimfuneko;
• Unyango lwehomoni yesondo: zisetyenziswa xa kukho ukulibaziseka ekukhuleni kwamalungu esini omntwana;
• Unyango ngengqondo: inceda ukulawula utshintsho kwindlela yokuziphatha komntwana, kunye nokuthintela ukuvela kokulamba;
• Unyango lwentethoOlu nyango luvumela ukwenza inkqubela phambili enxulumene nolwimi kunye neendlela zonxibelelwano zaba bantu.
• Umsebenzi womzimbaUkusebenza rhoqo komzimba kubalulekile ukulinganisa ubunzima bomzimba kunye nokomeleza izihlunu.
• Umzimba wonyangoUnyango lomzimba luphucula ithoni yezihlunu, luphucula ibhalansi kwaye luphucula izakhono zemoto.
• Unyango emsebenzini: Unyango emsebenzini lubonelela abaguli bakaPrader-Willi inkululeko enkulu kunye nokuzimela kwimisebenzi yemihla ngemihla.
• Inkxaso yengqondo: Ukuxhaswa kwengqondo kubalulekile ukukhokela umntu kunye nosapho malunga nendlela yokujongana nokuziphatha okunyanzelekileyo kokuziphatha kunye nokuphazamiseka kwemood.

Zininzi ezinye iindlela zonyango ezinokusetyenziswa, ezo zihlala zicetyiswa ngugqirha wabantwana emva kokujonga iimpawu kunye nokuziphatha komntwana ngamnye.