Funda malunga neSmith Magenis syndrome kunye nokudibana kwayo eSpain


Nge-17 kaNovemba le Usuku loMhlaba lweSmith Magenis Syndrome. Esi sisifo esinqabileyo esachongwa kwii-80s zokuqala ngu-Ana Smith kunye no-Ellen Magenis, yiyo loo nto igama laso. Esi sifo siqulathe iseti yeempawu, iimpawu zomzimba kunye nokuziphatha kobukrakra obahlukeneyo, kunye nothotho lokuzalwa okungathandekiyo.

Lakhe iimpawu, iimpawu, kunye nenkqubela phambili yophando eyenziwe kweli nqaku lijongana nayo, apho sifuna ukwazisa kwi-Spain Smith Syndrome Association -Magenis, umbutho ongajonganga kwenza nzuzo.

Oonobangela kunye neempawu zesifo sikaSmith Magenis

Ukuchazwa ngokucacileyo, i-Smith Magenis syndrome, ngesifinyezo sayo se-SMS, yinto engaqhelekanga yemfuza ebangelwe kukususwa kwe-chromosome 17. Yiyo isifo semfuzo, kodwa ngokubanzi asizuzwa njengelifa, njengoko iveliswa lutshintsho olutsha lwemfuza olwenzeka ngexesha lokwenziwa kweqanda okanye isidoda. Ngesi sizathu, uninzi lwezigulana ezichaphazelekayo azinayo imbali yosapho.

Uqikelelo kukuba i-Smith Magenis syndrome ivela kwi-1 kuzo zonke i-25000 zokuzalwa, nangona imithombo yakutshanje ibeka ukwanda 1 nganye yokuhanjiswa eyi-15000. Umngcipheko wokuphinda ukhulelwe kwesi sibini ufikelela kumashumi amahlanu eepesenti.

Iimpawu ziyalibazisa ukukhula kwengqondo kunye nophuhliso lolwimi, ukulahleka kwendlebe ngokuyinxenye. Iimpawu ezingafaniyo zolukakayi kunye nobuso ziimpawu kwaye ngamanye amaxesha zenzeka kwiminwe nakumqolo, kunye ne-scoliosis, brachydactyly, kunye ne-polydactyly. Ukungasebenzi kakuhle kwamanye amalungu kuqhelekile, ngakumbi isifo sentliziyo, sezintso kunye nenkqubo ye-nervous system. Kuqhelekile ukuba abantwana abaneSMS babe neengxaki zokuziphatha kunye nokuphazamiseka kwesingqengqelo sokulala, kunye nexesha elifutshane lokulala emini kunye nokuvuka rhoqo ebusuku.

Unyango kunye nophando lwamva nje

Njengakwezinye izifo, ngelishwa akukho lunyango lonyango kubantwana abane-Smith Magenis syndrome. Ukuchongwa kwangoko kubalulekile, ngakumbi kwiintsapho, kuba ziyabavumela ukuba bafunde ngesi sifo kwaye bazilungiselele imingeni ezayo. Amanyathelo onyango asekwe kulawulo lweempawu, amanyathelo okomzimba kunye nenkxaso yengqondo.

Njengoko siqokelele kwi-Smith Magenis Syndrome Spanish Association, imveliso yesayensi kwizifo ezinqabileyo eSpain nakwesi sifo ngokukodwa kunqabile okanye akukho. Obunye bobunzima ekuhlangatyezwane nabo ngabaphandi kukusilela kokuchongwa kwezigulana, ulwazi oluncinci kunye nomdla woogqirha kunye noochwephesha besifo sengqondo nakwesi sifo. Kwi-2020, imeko ebangelwe yi- Covid-19 Inenkqubela phambili enzima kolunye uphando engahambelani nobhubhane.

E-France nakwamanye amazwe angabamelwane, ukongeza e-United States, ewe kwenziwa uphando, ngakumbi inxulumene nemiba yokuziphatha kunye nokulala kwizigulana ezineSMS. 

Umbutho waseSpain weSmith-Magenis Syndrome, ASME

Umbutho waseSpain weSmith-Magenis Syndrome, i-ASME, yavela ngo-2004 xa iqela lamalungu osapho kunye nabantu abachaphazeleke sesi sifo badibana e-El Escorial, eMadrid, ukudibana, ukutshintshiselana ngeembonakalo kunye nokwabelana ngamava. Njengoko kuchaziwe kwiphepha, ngumbutho ongajonganga kwenza nzuzo.

EInjongo ephambili yombutho kukuphucula umgangatho wobomi yabantu abane-Smith Magenis syndrome. Umbutho ukhuthaza zonke iintlobo zamalinge anegalelo ekusasazeni nasekuphandeni isifo. Namhlanje, iibhasi zasezidolophini zaseSan Sebastián ziphethe uphawu olukhankanya esi sifo. 


Ngokusebenzisa iwebhusayithi a Isixhobo esikhokela iintsapho, oogqirha, ootitshala, kunye nezinye iingcali. Kuyo kukho inkcazo ebanzi kunye neenkcukacha zesifo, ngamanqanaba abantwana abaya kuwo, ukusuka kwiintsana ukuya kwinqanaba lokufikisa. Kukwakho nezinto zophando kunye nezindululo zomsebenzi ezinokukhutshelwa.


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  1. Uxanduva lwedatha: UMiguel Ángel Gatón
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