I-Dravet syndrome yisimo eshintsha ukusebenza kobuchopho okubangela isithuthwane esinzima nokuthi iqala ukunikeza ku unyaka wokuqala wokuphila.
Lezi zithuthwane ngokuvamile zibangelwa imfiva. Uma lesi sifo sesithuthukile futhi ngaphezu kwakho konke kusukela onyakeni wesibili wokuphila, ukukhula kancane kancane komqondo kungabonakala enganeni.
I-Dravet syndrome yi-a okukhulu okungaziwa ngenxa yokuba yivelakancane kakhulu. Ngenxa yalesi sizathu, esihlokweni sanamuhla sizoyazi kancane kancane, sibone ukuthi kungani ibangelwa, ikuphi ukwelashwa, ukuxilongwa kwayo, izimpawu, njll ... ngoba uma sazi kabanzi ngalolu hlobo lwesifo, amathuba amaningi esizoba nawo okuxilongwa kusenesikhathi kanye nezinga lempilo elingcono lalabo abaphethwe yikho.
Iyini i-Dravet syndrome futhi ikhula kanjani?
Sibhekene nesifo esingavamile, Ingane eyodwa kweziyizi-1 kuya kwezingama-20.000 ihlushwa yiso. E-Spain cishe izingane eziphakathi kuka-250 no-450 ezingaphansi kweminyaka engu-19 ubudala zingaba nayo njengamanje.
Phakathi kwazo zonke izimo, i ukufa kumelela u-15% futhi engxenyeni yalezo zimo kubangelwa ukufa kungazelelwe komuntu onesifo sokuwa.
Amashumi eminyaka adlule amele kusengaphambili ku-Dravet syndrome, njengoba sekuphenywe kakhulu futhi Namuhla kukhona esikwazi kangcono ngalesi sifo nokuthi selashwa kanjani.
Izimbangela
Ucwaningo oluhlukahlukene luye lwahlonza izinkinga noma izinguquko kufuzo oluthile (SCN1A) lapho i-Dravet syndrome ikhona. Nakuba kuyiqiniso ukuthi kuphela 80% amacala.
Lokhu kuguqulwa kubangela ukuthi kuncishiswe isiteshi sesodium kuma-neurons, okungadala isifo.
Izimpawu
Izimpawu ziqala zisencane, sezivele zibonakale ezinyangeni eziyisi-6. Zivamile isithuthwane kanye nokuquleka ezingaphenduli ekwelashweni okuqondile kwazo. Ukuhamba kwesikhathi kuholela kwezinye izinkinga ezifana ukuntengantenga ekukhuleni kwengqondo, ukungasebenzi kahle kanye nokuphazamiseka kwengqondo udokotela wamathambo. Lezi zimpawu ziwela ezigabeni ezintathu ezilandelayo:
Crisis: Ngesikhathi sokukhula kwezingane kuvamile ukudlula ngezindlela ezahlukene izinqubo zokutheleleka kwe-banal, imfiva noma i-frebriculas, njll. Uma zivame kakhulu futhi ziqhubekayo, kungenzeka ukuthi kuwuphawu lokuhlupheka kwe-Dravet syndrome.
Izinkinga ekuthuthukisweni kwengqondo: hyperactivity, ubunzima ekukhulumisaneni kanye socialization kungase kuvele.
Izinkinga ekukhuleni komzimba: njenge-scoliosis, izinyawo ze-valgus noma ukukhula, ukudla, izinkinga ze-immunological, njll.
Kuyini ukuquleka kwesithuthwane?
Isithuthwane kukhona iziqephu zokushintshwa komsebenzi wobuchopho. Isignali kagesi esetshenziswa ama-neuron ukuxhumana isakaza ngendlela yesiphithiphithi.
lezi zinkinga kuthinte imisebenzi yobuchopho esiyilawulayo, okungukuthi, ukukhuluma, imisipha enyakazayo, ukubamba ngekhanda, ukucabanga, njll.
Isikhathi salokhu kuquleka kwesithuthwane si cishe imizuzu emibili, nakuba zingahlala isikhathi esincane.
Ngemva kokuquleka, kuba Ngokuvamile umuntu ukhathele, udidekile, ubuthakathaka, futhi unenkinga yokukhuluma isikhashana noma amahora. Kancane kancane ama-neurons azobuyisa amandla awo futhi abuyise ukusebenza kwawo okuvamile.
isimo se-epilepticus
Uma lezi zinkinga bezinde, ngaphezu kwemizuzu engama-30 noma kube nokuquleka okuningana ngokulandelana ngaphandle kokululama phakathi kokukodwa nokunye, sizobe sikhuluma ngesifo sokuwa.
Ukuxilongwa nokwelashwa kwe-Dravet syndrome
Kuyinto syndrome ukuthi ikhula isencane kakhulu Ngakho-ke kubalulekile ukuxilonga ngendlela efanele ngokushesha ngangokunokwenzeka. Nokho, iningi Ukuxilongwa kwenzeka eminyakeni emi-3 noma emi-4, lapho ukubambezeleka kwengqondo kubonakala enganeni njengoba ikhula. Lokhu kubambezeleka kubonakala lapho kuqhathaniswa ukukhula kwengane nezinye ezilingana nayo.
Inkinga ukuthi izikhathi eziningi kucatshangelwa ukuthi isiguli sinesifo sokuwa futhi sinqunyelwe izidakamizwa. Kuyaphenywa ukuthi imithi ethile yenzelwe ukwelapha isithuthwane azikhiqizi i-Dravet syndrome.
Ngokucabangela yakho ukudideka kalula nesifo sokuwa, Isiguli sakwazi ukwelashelwa lokhu iminyaka embalwa kwaze kwatholakala ukuthi sine-Dravet syndrome.
Okwamanje, ungakwazi ukuxilonga futhi uhlole ukuthi unaso yini lesi sifo onyakeni wokuqala wokuphila. Kunemitholampilo enamayunithi akhethekile kulesi sifo, njengomtholampilo waseNyuvesi yaseNavarra (eSpain).
Ukwelapha
Ukuqeda i-Dravet syndrome ngokuphelele akunakwenzeka, kodwa kunezimo ezimbalwa kakhulu lapho kufinyelelwa khona. Kuyisifo kunzima kakhulu ukwelapha. Yini efinyelelwa ku inani elikhulu leziguli ukuthi lezi zinkinga ziba mfushane kakhulu ngesikhathi, ngisho nokuthi ziyancipha ngenani (ifinyelela kanye noma ngaphansi ngenyanga).
Kubalulekile ukuhlola icala ngalinye futhi ukhumbule lokho imithi akufanele inikezwe ukwelapha isithuthwane njengoba zingase zibhebhethekise i-Dravet syndrome. Futhi ngaphezu kwakho konke, njalo iya kochwepheshe abangongoti kulesi sifo ukuze bakukhiphe uma kwenzeka kuba nesiqephu sesifo sokuwa esingakubona ezinganeni ezincane.
I-Dravet Syndrome Prognosis
Kuyinto a isifo esingavamile, okwenza ochwepheshe abambalwa nxazonke zayo. Okuthile okuyisisekelo ukuze singakuphathi njengesithuthwane esisodwa.
Lapho siqaphela ngokwengeziwe lokho uphawu lungaba ukubonakaliswa kwezifo ezihlukahlukene nokuthi ngayinye inokwelashwa kwayo, kangcono empilweni yethu. Uma ungabaza, okufanelekile ukuxhumana nochwepheshe abaningana abavela emagatsheni ahlukene noma izifo. Lokhu akusho ukubukela phansi uchwepheshe oyedwa noma abambalwa, kodwa kunalokho ukuthi umzimba womuntu nazo zonke izifo nezimpawu ongaziveza zihlukahlukene kangangokuthi akunakwenzeka ngokobuntu ukuba umuntu oyedwa abe nalo lonke ulwazi.
Kungakho ubuchwepheshe bubaluleke kakhulu emkhakheni wezempilo. Futhi, ngakho-ke, uma sibhekana nezimpawu ezingase zibonakale zingajwayelekile, kuwumqondo omuhle ukuthola ukuthi yiziphi ochwepheshe abaseduze bese ubonana nabo ukuze uthole ukuhlolwa okungcono kwenkinga esibhekene nayo.