I-Dravet syndrome yi-a isifo esingavamile kuthinta ingane eyodwa kweziyizi-1-20.000 ngakho-ke maningi amathuba okuthi awukaze uzwe ngakho. Kodwa-ke, ulwazi oluncane alukaze lube buhlungu ukwazi ukuthi ungazibona kanjani izimpawu ezinganeni futhi ube nozwela ngemindeni ehlushwa yikho.
Isifo esibonakala onyakeni wokuqala wokuphila sibangelwa ku-80% wamacala ngoshintsho oluhlukile ku-SCN1A gene kanye kubangela izinkinga ezinzima kokuncane kakhulu Ukuquleka okudala usizi olukhulu kubazali futhi ngokuvamile okunqumayo ekufinyeleleni ukuxilongwa okufanele kusenesikhathi. Futhi kungenxa yokuthi nakuba kunzima ukukwelapha, ukwelashwa okwanele kungathuthukisa izinga lakho lempilo.
Iyini i-Dravet syndrome?
I-Dravet syndrome, eyaziwa nangokuthi i-Severe Myoclonic Epilepsy of Childhood, i- i-epileptic encephalopathy yemvelaphi yofuzo evela onyakeni wokuqala wokuphila kwengane futhi ibonakala ngokusebenzisa ukuqunjelwa isikhathi eside ngokuvamile kubangelwa imfiva, kulandele isithuthwane esingazweli ezidakamizwa. Ukusuka lapho, izigaba ezihlukene ziyalandelana ngezinkinga ezivamile njengokuhamba kancane kokukhula komqondo wengane.
Izigaba
Kusukela ezinyangeni ezi-4 kuye kweziyi-12 zokuphila, lapho i-syndrome izibonakalisa khona ngezinkinga zokuquleka, futhi kuze kufike eminyakeni engu-6 ubudala, izingane zizodlula ezigabeni ezihlukene okufanele zibizwe: ukuqala, ukuwohloka, nokuzinza, nezinkinga ezivamile kuzo zonke. esizichaza kafushane ngezansi:
- Qala (izingane ezingaphansi konyaka owodwa). Inkinga yokuqala yesifo sokuwa ifika ngaphandle kwesixwayiso, ngokuvamile phakathi kwezinyanga ezi-4 neziyisi-8 ezibangelwa umkhuhlane omncane. Ingane okwaze kwaba yileso sikhathi eyayikhula ngokujwayelekile ngokuphelele izoba nokuquleka kokuqala okuthatha isikhathi eside okuzohlala isikhathi esingaphezu kwemizuzu eyi-15 futhi lokho kuzophindwa emasontweni noma ezinyangeni ezimbalwa ezizayo, ngaphandle kokuphazamisa, ezimweni eziningi, ukukhula kwe-psychomotor. ingane.
- Ukuwohloka (izingane eziphakathi kweminyaka engu-1 no-5). Kulesi sigaba sesibili, imvamisa yokuquleka kwesifo sokuwa izovame ukwanda futhi ngokuvamile izofaka iziqephu zesithuthwane esihlala isikhathi esingaphezu kwemizuzu engama-30. Ezinye izinhlobo zezinto ezivusa amadlingozi nazo ziyavela: izibani ezikhanyayo, amaphethini ejometri avamile... Kukulesi sigaba lapho kuphinde kuqashelwe khona ukwehla okujwayelekile kokuthuthuka, kube nokuphazamiseka kwengqondo nokuziphatha kanye nokukhuluma nolimi kuqala ukuthinteka.
- Ukuzinza (kusukela eminyakeni emi-5). Kusukela phakathi nenkathi yobuntwana kuya ebusheni, ukuquleka ngokuvamile kunciphisa futhi kuthuthuke, futhi ukuphazamiseka kwengqondo nokuphazamiseka kwengqondo kuvame ukuzinza. Ukukhubazeka kwengqondo okuhlala njalo kuyahlukahluka kuye kwezinye izici ezibucayi Ububanzi be-Autistic.
Izimpawu ezivame ukwenzeka
Nakuba kunomehluko wokuthi nini futhi kanjani, iqiniso liwukuthi kunezimpawu ezivamile ezibonakala kuzo zonke izimo futhi yilezi ezilandelayo:
- Ukuquleka njalo. Ukuquleka kokuqala okunokuquleka okujwayelekile kuvame ukuvuswa umkhuhlane. Nokho, ngokuhamba kwesikhathi, ukuquleka okuhlobene nezinye izisusa kanye nezinye izinhlobo zokuquleka ezifana ne-myoclonus, ukungabikho kwe-atypical, kanye nokuquleka okuyingxenye-okuyinkimbinkimbi kwenzeka.
- Ukuthuthukiswa komqondo okumile kanye ne-psychomotor kanye nokubukeka kwezinkinga zokuziphatha njengokuzixaka ngokweqile. Inkulumo imvamisa ingelinye lamakhono athinteka kakhulu kodwa futhi ezimweni eziningi i-ataxia, ukuphazamiseka kokulala kanye nokuphazamiseka kwe-autism spectrum kuyabonwa.
- ukuphazamiseka kwamathambo. I-Scoliosis, izinyawo ezivilaphayo, njll.
Ukuxilongwa nokwelashwa
Njengoba kuyisifo esingavamile, kungaba nzima ukuthola ochwepheshe abanolwazi kule pathology. Lokhu kwenza kube nzima ukuphatha isifo esiyinkimbinkimbi futhi kakhulu Kunzima ukuyelapha. Futhi ukuthi nakuba ukwelashwa okwanele kuvumela ukunciphisa inani lezinkinga, iziguli ezimbalwa kakhulu ezikwazi ukuqeda izinkinga zazo ngokuphelele.
Ukuxilongwa kusenesikhathi kubalulekile ukuze kuthuthukiswe izimpilo zalezi ziguli. Kusenesikhathi futhi kunembile, njengoba ukuphathwa kwemithi ethile yesithuthwane kungakhuphula ukuquleka kulezi ziguli.