Syndrome Usher: Inkcazo isifo

Phakathi izifo genetic indawo eyahlukileyo i syndrome Usher, ogama emva sisazinzulu Dutch. Wachaza sifo kwinkulungwane yama-20.

iimpawu

Usher syndrome - a isifo ilifa, nto leyo esibonakala ngokungabikho epheleleyo wokuva ilahleko kunye ukulahleka kwenxalenye umbono. Ngokuqhelekileyo, umntu lo syndrome bazalwa abangevayo. Ukunqongophala ukuva kungenxa retinitis pigmentosa. A mbono ngcembe ezilahlekileyo ngenxa yokuguga ngokukhawuleza ngendlela engaqhelekanga retina, apho bekuhleli Usher syndrome. Iimpawu zesi sifo azibonakalisa ngokuqhelekileyo elivisayo, kodwa kukho amaxesha xa kuvandlakanywa abantwana abaselula, ukususela kwiminyaka emihlanu.

Fall umbono

Ngelo lukwisigaba sokuqala onaso kubonakala njenge "ukungaboni ubusuku", xa umntu ulahlekelwa ukukwazi ukubona phantse kwiindawo apho ukukhanyisa ayanelanga. Ngokungafaniyo kubantu abasempilweni, ayithethi ziziqhelanise emnyameni, kwaye ngokupheleleyo awukwazi ukuhamba kuyo. Ngaphezu koko, walahlekelwa neuropathy (icala) mbono, kuba etoneleni. umbono Central inokuba ezininzi minyaka ilungileyo ngokwaneleyo na, kodwa ekwaluphaleni kwakhe isigulana phantse uyimfama, nto leyo eyenza kube kakhulu nomsindo ethukile.

Ukongezelela, abantu abaphethwe lidiniwe kwaye usoloko uziva nokudinwa. Isantya yokuwa kuxhomekeke iimpawu ngabanye isifo - wonk 'ubani indlela yabo, kodwa ngaphezulu okanye ngaphantsi kancinci. Abantu abane Usher syndrome asisininzi amatyala ephazamisa uququzelelo kweentshukumo. Okokuqala kubonakala ebumnyameni, kwaye kwixesha elizayo - yaye xa kukho ukukhanya.

syndrome Usher: unyango lwesifo

Ngelishwa, amayeza alunakuzenzela phambi kwesi sifo, akukho ndlela kakuhle unyango. Kodwa isigulo kwangethuba kubaluleke kakhulu ngokwemiqathango inkxaso yengqondo kumguli. Ukuva ngokwenzakala okanye akanayo ngokupheleleyo abantu ukuva, njalo ubunzima ukunxibelelana. Kwaye waqalisa ulahlekelwa kunye nombono, ngokufuthi panics, azivalele uyala ukunxibelelana nehlabathi ngaphandle. Le meko nzima into yokuba iimpawu yokuqala ukuvela elivisayo, xa ingqondo ayikho izinzile.

Ukuba ixesha akafuni ukunceda umntu Usher syndrome, amathuba iphezulu ukuba kule minyaka ezuza yesigulo sengqondo - ezifana sengqondo. Xa efumanise iimpawu yokuqala kufuneka ubone ugqirha kwaye inani leemvavanyo yemfuza. Ukuba isifo kuqinisekisiwe, ngobunono ukuqhelana isigulane kuya ngokoqobo elitsha apho masiphile ubomi ngokupheleleyo: ukufumana imfundo, umsebenzi, ukukhulisa intsapho, njll Kodwa kule meko ngaphandle koncedo iingcali .. (zengqondo, ootitshala , njl ...) ayikwazi ukukwenza.

syndrome Usher: ezibangela izifo

Kutheni kukho esi sifo? Njengoko sele kutshiwo ngentla apha, syndrome Usher - isifo ilifa, oko Awunokosulelwa, akunakwenzeka ukuba abe. Efunyanwa kulo amadoda kunye nabafazi ngokulinganayo. Ziphila malunga ezintlanu okanye ezintandathu ekhulwini yabemi iplanethi yethu.

Usher syndrome into njengelifa kulo uhlobo sofuzo. Ukuba bobabini abazali begula okanye ukuba abathwali sofuzo, amathuba ukuba umntwana uza kuzalwa kunye syndrome - malunga ne-25%. Ukuba lwemidiya (okanye nomonde) Mnye kuphela, ingozi ayinamsebenzi. Amathuba - malunga ne-0.5%. Kodwa ke umntwana uya nakanjani inaso esi sifo.

Jonga wena phambi Usher Syndrome sofuzo akunakwenzeka - inzululwazi yanamhlanje nangoku ayifumanekanga kuye iindlela. Ngokuzithemba kunokwenzeka ukuba ukwazi ngalo kuphela xa kugqatso aba bantu baba esi sifo. gene zenethiwekhi singabinaxhala ngawe ngokwakho - iimpawu yabafumana yena. Kodwa ke inzala - unakho, ukuba omnye umzali wayeza kuba "umnini" zofuzo.

Indlela ukunxibelelana nabantu abane Usher syndrome

Ukunxibelelana umntu osisithulu abangaboniyo kunzima. Okokuqala, neze iindlela zonxibelelwano, yaye okwesibini, izigulane syndrome Usher badla ndlongondlongo, udikwa kunye venga yehlabathi lonke. Ngoko ke, kufuneka ube nomonde kuyamangalisa ukuba uqhagamshelane ngempumelelo.

Izihlobo, abahlobo kunye nabanye abantu badla ukunxibelelana nabantu nesi sifo yemfuza, iingcali kunika iingcebiso zilandelayo:

• Ukuba sithetha malunga nomntwana ndandijongene iimpawu yokuqala, ufanele ngobunono kodwa ngokuqinileyo ukubethelela ukuba ebomini kuya kubakho ezinye iintsilelo, kodwa, nakuba kunjalo, inokoyiswa.
• Abantu abane Usher syndrome kusoloko kubashiya abakuso, engafuni ukuba ukubeka up kunye nemeko ekuyiyo ngoku kunye ukubona isifo. Bazama ukuba benze ukuba akukho nto yenzekayo. Kunye nempilo yabantu, kungakuhle kulo mzekelo ukudlala ecaleni, yokunyamekela ekudluliseleni kakhulu bekhululekile.
• Ukuthetha umntu onesifo naso, kufuneka ukuba umi kumgama encinane kuyo (50-100 cm), ukwenzela ukuba bakwazi ukufunda ulwazi imilebe, uze uqiniseke ukuba ngobuso umthombo ukukhanya. Ngokubanzi, kungakuhle ukuba ukhethe ukuthetha iindawo kakuhle ovuthayo.
• Kwiinzame ukutsala ingqalelo umntu onjalo, kufuneka siwenza ngokusondeleyo kakhulu.
• Intsimi umbono abantu Usher syndrome ulinganiselwe. Gesticulate kufuneka akhawunti le meko - izandla kufuneka lube kwinqanaba esifubeni.
• Ebusuku, abantu kunye syndrome akakwazi ukwenza ngaphandle koncedo. Baya kufuneka sikhatshwe osisilumkiso xihinga encinane.
• Musa ukuba neentloni ukunikela uncedo, ngenxa yokuba izigulane Usher syndrome basesichengeni kakhulu yaye ngokufuthi zakompleksovanny. Cela umntu malunga inxaxheba - kuba yingxaki enkulu.

isiphelo

Ukuba umntu omthandayo onesifo kule nomphumela, zama ukuba zikuthathele ingqalelo oku ingqalelo kusoloko xa usebenza naye. abantu abanjalo kufuneka ukunyamekela kakuhle unobtrusively. Ukuba udinga into ukunceda loo mntu, zama ukwenza oko ngengqiqo, mqinisekise isigulane ukuba kuhle yaye alwa nayo yonke into. Ungaze ahlekise iziphako zayo, yaye ngakumbi ngoko tumbuluxeke ngenxa kubo, ukuba nomsindo - ubambe umva. Umntu kufuneka nazigqibo le meko nokomeleza ingcamango yokuba Usher syndrome - nto nto eyoyikisayo kangaka.