{"id":1155,"date":"2024-11-05T00:07:23","date_gmt":"2024-11-04T23:07:23","guid":{"rendered":"https:\/\/neurokidbossa.rs\/?p=1155"},"modified":"2024-11-07T00:13:08","modified_gmt":"2024-11-06T23:13:08","slug":"dravet-syndrome","status":"publish","type":"post","link":"https:\/\/neurokidbossa.rs\/en\/dravet-syndrome\/","title":{"rendered":"DRAVET SYNDROME (DS)- Rana razvojna Epilepti\u010dna Encefalopatija."},"content":{"rendered":"<p><\/p>\n\n\n\n<p><strong>Definicija, prevalenca i incidenca<\/strong><br><\/p>\n\n\n\n<p>Te\u0161ka miokloni\u010dka epilepsija detinjstva (Severe Myoclonic Epilepsy in Infancy) predstavlja jednu od razvojnih Epilepti\u010dnih Encefalopatija i prvi put je opisana 1978.g u Francuskoj od strane poznatog francuskog epileptologa iz Marseja Prof. Charlotte Dravet po kojoj je i dobila ime &#8211; Dravet syndrome (Dravet&amp;Oguni 2013).<\/p>\n\n\n\n<p>Oko 1.4% sve dece sa epilepsijom ima DS. Incidenca je 1\/15700 u USA i u op\u0161toj populaciji 1\/40900 i DS obuhvata oko 10% svih razvojnih Epilepti\u010dkih Encefalopatija.<\/p>\n\n\n\n<p>U poslednjih 10 godina zahvaljuju\u0107i podizanju svesti o ovoj bolesti me\u0111u lekarima koji se bave de\u010djom neurologijom i epileptologijom i rapidnom razvoju genetike i njenoj dostupnosti u velikom broju zemalja, dijagnoza se br\u017ee postavlja, \u0161to omogu\u0107ava br\u017ee i efikasnije zapo\u010dinjanje medikamentnog tretmana.<\/p>\n\n\n\n<p><br><strong>Klini\u010dke karakteristike<\/strong> DS mogu se podeliti u 3 faze (Gataullina &amp;Dulac, 2016):<\/p>\n\n\n\n<p><br><strong>Prva faza tzv. \u201eFebrilna faza<\/strong>\u201c u prvoj godini \u017eivota karakteri\u0161e se :<br><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>febrilnim unilateralnim kloni\u010dkim napadima, ili generalizovanim napadima u stanjima febrilnosti zbog infekcija ili febrilnosti posle vakcinacije ili nakon kupanja u toploj vodi<\/li>\n\n\n\n<li>febrilnim status epilepticusima (napadima du\u017eim od 5 minuta) koji bivaju zamenjeni unilateralnim afebrilnim napadima, kloni\u010dkim ili drugim fokalnim napadima<\/li>\n\n\n\n<li>Oko 90% dece ima napad u 1. godini \u017eivota&nbsp; ( od&nbsp; 4.-8. meseca).<\/li>\n\n\n\n<li>Deca su prethodno potpuno zdrava i nemaju nikakve neurolo\u0161ke ili druge probleme.<\/li>\n<\/ul>\n\n\n\n<p><strong>Druga faza tzv \u201eFaza pogor\u0161anja\u201c<\/strong> od 1.-4. godine \u017eivota karakteri\u0161e se:<br><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li> kratkim miokloni\u010dkim napadima ili masivnim miklonijama<\/li>\n\n\n\n<li>atipi\u010dnim apsansima<\/li>\n\n\n\n<li>fokalnim motornim napadima sa devijacijom glave i pogleda u jednu stranu<\/li>\n\n\n\n<li>unilateralnim motornim napadima koji su kra\u0107eg trajanja nego u predhodnoj fazi<\/li>\n\n\n\n<li>epizodama padanja glave i produ\u017eenim fazama \u201ezurenja u prazno\u201c<\/li>\n\n\n\n<li>fokalnim autonomnim napadima pra\u0107enim crvenilom, bledilom ili cijanozom<\/li>\n\n\n\n<li>kognitivni pad postaje vidljiv u ovoj fazi<\/li>\n\n\n\n<li>napadi mogu biti trigerovani umorom ili uzbu\u0111enjem, manje su osetljivi na povi\u0161enje temperature<\/li>\n<\/ul>\n\n\n\n<p><strong>Tre\u0107a faza tzv.<\/strong> <strong>\u201eFaza stabilizacije<\/strong>\u201c posle 5. godine \u017eivota, koju karakteri\u0161u:<br><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>mioklonije<\/li>\n\n\n\n<li>napadi su prete\u017eno u spavanju a apsansni napadi mogu nestati<\/li>\n\n\n\n<li>fokalni napdi se mogu smanjiti broj\u010dano ili perzistirati<\/li>\n\n\n\n<li>ako se do tada nije razvio ataxi\u010dan hod bi\u0107e vidljiv, kao i poreme\u0107aj pokreta<\/li>\n\n\n\n<li>kognitivni pad&nbsp; koji se uglavnom razvija u 2.ili 3.&nbsp; godini \u017eivota postaje upadljiviji<\/li>\n<\/ul>\n\n\n\n<p><strong>Dijagnoza i differencijalna dijagnoza<\/strong><\/p>\n\n\n\n<p><br>Ve\u0107 smo vi\u0161e puta napominjali da je dijagnoza epilepsije klini\u010dka ali da nam <a href=\"https:\/\/neurokidbossa.rs\/en\/eeg-elektroencefalografija\/\"><strong>EEG<\/strong><\/a> mnogo poma\u017ee u odvajanju fokalnih od generalizovanih tipova epilepsija kao i u dijagnostikovanju specifi\u010dnih epilepti\u010dnih sindroma koji imaju karakteristi\u010dan EEG crte\u017e (npr: Infantilni spazmi, <a href=\"https:\/\/neurokidbossa.rs\/en\/decja-apsansna-epilepsija\/\"><strong>apsansna epilepsija<\/strong><\/a>).<\/p>\n\n\n\n<p>Na \u017ealost kod DS EEG nije od velike pomo\u0107i na po\u010detku bolesti jer je kod ve\u0107ine dece uredan, tek kod 1\/4 se mo\u017ee javiti nespecifi\u010dno usporenja osnovne aktivnosti. Me\u0111utim do 5. godine \u017eivota kod ve\u0107ine dece \u0107e se na EEG-u javiti epileptiformne promene bilo fokalne, generalizovane ili multifokalne (Genton et al, 2011, Speccio et al. 2012). Tako\u0111e je fotosenzitivnost prisutna u oko 50 % dece sa DS tokom bilo koje faze bolesti, pa se intermitentna fotostimulacija koju koristimo kao provokativnu metodu tokom EEG, naro\u010dito potencira kod dece sa napred navedenim klini\u010dkim karakteristikama.<\/p>\n\n\n\n<p><br>MRI mozga nam tako\u0111e nije od velike koristi jer je uglavnom normalna kod dece sa DS. U malom broju slu\u010dajeva tokom kursa bolesti mo\u017ee se na\u0107i kortikalna atrofija, hipokampalna skleroza ili nejasna granica izme\u0111u bele i sive mase.<\/p>\n\n\n\n<p><br>Najva\u017eniju ulogu u dijagnostici pored klini\u010dkih karakteristika napada \u010dini genetska analiza jer\u00a0vi\u0161e od 80% sve dece sa DS ima mutaciju na nivou natrijumovih kanala (SCN1A mutacija). Oko 90% su mutacije de novo \u0161to zna\u010di da ne dolaze od roditelja a samo 4-10% mutacija poti\u010du od roditelja.<br>Ranije otkrivanje bolesti omogu\u0107ava ranije zapo\u010dinjanje tretmana adekvatnim lekovima (Valproatima, Stiripentolom, Fenfluraminom i dr.) i izbegavanja lekova koji mogu pogor\u0161ati napade\u00a0 kod pacijenata sa DS (kao npr. Blokatori natrijumovih kanala kakvi su Crabamazepine, Oxcarbazepine, Phenytoin, Lamotrigine).<\/p>\n\n\n\n<p><br><strong>Tretman Dravet syndroma<\/strong><br><\/p>\n\n\n\n<p>Najbolje je ilustrovan u preporukama experata de\u010dje epileptologije iz 2022 (Wirelli et al.2022)<br><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"1024\" height=\"576\" src=\"https:\/\/neurokidbossa.rs\/wp-content\/uploads\/2024\/11\/dr1.png\" alt=\"\" class=\"wp-image-1157\" srcset=\"https:\/\/neurokidbossa.rs\/wp-content\/uploads\/2024\/11\/dr1.png 1024w, https:\/\/neurokidbossa.rs\/wp-content\/uploads\/2024\/11\/dr1-300x169.png 300w, https:\/\/neurokidbossa.rs\/wp-content\/uploads\/2024\/11\/dr1-768x432.png 768w, https:\/\/neurokidbossa.rs\/wp-content\/uploads\/2024\/11\/dr1-18x10.png 18w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p><br>Zbog upadljive fokalnosti napada u 1. Godini \u017eivota bilo da su unilateralni prolongirani, febrilni ili afebrilni napadi, \u010desto se od strane lekara koji nisu familijarni sa ovom dijagnozom ponudi lek Carbamazepine, koji je odli\u010dan lek za fokalne napade ali ne i za napade u Dravet sy. Zato je neophodno pre propisivanja bilo kojeg antiepilepti\u010dnog leka postaviti najpre dijagnozu vrste napada\/Epilepti\u010dnog sindroma, a ako to nije mogu\u0107e u tom trenutku izabrati lek naj\u0161ireg spektra kakav je Valproat (Eftil)\u00a0 ili Levetiracetam (Keppra). Po postavljanju dijagnoze izabrati lek koji je lek izbora za pomenuti tip epilepsije\/Epilepti\u010dnog sindroma.<\/p>\n\n\n\n<p><strong>Tok i prognoza<\/strong><br><\/p>\n\n\n\n<p>Kako se radi o kompleksnoj epilepsiji, epilepti\u010dnoj encefalopatiji koju karakteri\u0161e vi\u0161e tipova epilepti\u010dnih napada , nemogu\u0107e ih je kupirati jednim antiepilepti\u010dnim lekom a \u010desto i sa kombinacijom nekoliko njih, \u0161to onda zovemo farmakorezistencija. U ovom sindromu ne predstavlja problem samo kontrola napada ve\u0107 i sijaset pridru\u017euju\u0107ih poreme\u0107aja kao \u0161to su: kognitivne smetnje, poreme\u0107aj pona\u0161anja, poreme\u0107aj spavanja i hranjenja, te\u010dko\u0107e u u\u010denju i pam\u0107enju, poreme\u0107aj hoda i govora, endokrine i autonomne smetnje. Vrlo \u010desto ova komorbidna stanja je te\u017ee kontrolisati\u00a0nego same napade i predstavljaju veliki problem za same pacijente, njihove roditelje ili staraoce ali\u00a0i ostale \u010dlanove porodice, \u0161to u mnogome uti\u010de na njhov kvalitet \u017eivota. Pacijenti sa DS u velikom % imaju razli\u010dit stepen\u00a0 intelektualne nedovoljnosti. Oko 80% pacijenata sa DS do\u017eivi adultno doba i u jednoj studiji nastariji pacijent sa DS imao je 60 godina (Catarino et al.2011).<\/p>\n\n\n\n<p><br>Novu nadu za\u00a0pacijenate i njihove roditelje, a i lekare koji ih le\u010de, \u010dini Genski tretmani bolesti\u00a0 (Disease Modifying Treatment-DMT). \u0160to se ti\u010de DS u fazi razvoja je nekoliko lekova: STK-001 (antisense oligonucleotide) i EXT -101-adenovirus vektor) za koje se nadamo da \u0107e uspeti da obezbede efikasniji tretman DS i omogu\u0107e bolji kvalitet \u017eivota pacijenata sa DS i njihovih porodica.<br><\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"768\" src=\"https:\/\/neurokidbossa.rs\/wp-content\/uploads\/2024\/11\/dr-1024x768.jpg\" alt=\"\" class=\"wp-image-1158\" srcset=\"https:\/\/neurokidbossa.rs\/wp-content\/uploads\/2024\/11\/dr-1024x768.jpg 1024w, https:\/\/neurokidbossa.rs\/wp-content\/uploads\/2024\/11\/dr-300x225.jpg 300w, https:\/\/neurokidbossa.rs\/wp-content\/uploads\/2024\/11\/dr-768x576.jpg 768w, https:\/\/neurokidbossa.rs\/wp-content\/uploads\/2024\/11\/dr-16x12.jpg 16w, https:\/\/neurokidbossa.rs\/wp-content\/uploads\/2024\/11\/dr.jpg 1453w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p><\/p>\n\n\n\n<p><br>Prof <strong><em>Dravet<\/em><\/strong> i DR Bosanka Joci\u0107 Jakubi, na epileptolo\u0161kom&nbsp; Simpozijumu u Be\u010di\u0107ima, CG.<br><\/p>\n\n\n\n<p><br>Catarino CB, Liu YW, Liagkouras&nbsp; I et al (2011):Drave syndrome as Epileptic Encephalopathy:Evidence from long term course and Neuropathology. &nbsp;Brain 2011: 134; 2982\u20133010 doi:10.1093\/brain\/awr129<\/p>\n\n\n\n<p>Dravet, C., &amp; Oguni, H. (2013).&nbsp;<em>Dravet syndrome (severe myoclonic epilepsy in infancy). Pediatric <\/em><em>Neurology Part I, 627\u2013633.<\/em>&nbsp;doi:10.1016\/b978-0-444-52891-9.00065-8<\/p>\n\n\n\n<p>S. Gataullina, O. Dulac, From genotype to phenotype in Dravet disease, Seizure: Eur J Epilepsy (2016), http:\/\/ dx.doi.org\/10.1016\/j.seizure.2016.10.014<\/p>\n\n\n\n<p>Genton P, Velizarova R, Dravet C. Dravet syndrome: the long-term outcome. Epilepsia. 2011;52(Suppl 2):44-9.<br>Specchio N, Balestri M, Trivisano M, Japaridze N, Striano P,Carotenuto A, et al. Electroencephalographic features in Dravet syndrome: five-year follow-up study in 22 patients. J Child Neurol. 2012;27:439-44<\/p>\n\n\n\n<p>Wirrell, E.C., Hood, V., Knupp, K.G., Meskis, M.A., Nabbout, R., Scheffer, I.E., Wilmshurst, J., Sullivan, J., 2022. International consensus on diagnosis and management of Dravet syndrome. Epilepsia.&nbsp;<strong><a href=\"https:\/\/doi.org\/10.1111\/epi.17274\">doi<\/a><\/strong><a href=\"https:\/\/doi.org\/10.1111\/epi.17274\"><strong>: <\/strong><\/a><a href=\"https:\/\/doi.org\/10.1111\/epi.17274\"><strong>10.1111\/<\/strong><\/a><a href=\"https:\/\/doi.org\/10.1111\/epi.17274\"><strong>epi.17274<\/strong><\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Definicija, prevalenca i incidenca Te\u0161ka miokloni\u010dka epilepsija detinjstva (Severe Myoclonic Epilepsy in Infancy) predstavlja jednu od razvojnih Epilepti\u010dnih Encefalopatija i prvi put je opisana 1978.g u Francuskoj od strane poznatog francuskog epileptologa iz Marseja Prof. Charlotte Dravet po kojoj je i dobila ime &#8211; Dravet syndrome (Dravet&amp;Oguni 2013). Oko 1.4% sve dece sa epilepsijom ima [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1155","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - 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