{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:26:56Z","timestamp":1759336016792,"version":"build-2065373602"},"reference-count":0,"publisher":"Ideggyogyaszati Szemle Journal","issue":"9-10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"published-print":{"date-parts":[[2025]]},"abstract":"<jats:p>Bevezet\u00e9s\nTanulm\u00e1nyunk c\u00e9lja a preszimpt\u00f3m\u00e1s \u00e9s szimpt\u00f3m\u00e1s st\u00e1diumban betegs\u00e9gm\u00f3dos\u00edt\u00f3 ter\u00e1pi\u00e1ban r\u00e9szes\u00fclt SMA- (spinal muscular atrophy) beteg gyermekek mozg\u00e1sfejl\u0151d\u00e9s\u00e9nek, eszk\u00f6z\u00f6s l\u00e9gz\u00e9s- \u00e9s t\u00e1pl\u00e1l\u00e1st\u00e1mogat\u00e1si, valamint k\u00f3rh\u00e1zi ell\u00e1t\u00e1si ig\u00e9ny\u00e9nek \u00f6sszehasonl\u00edt\u00e1sa.\n\nM\u00f3dszerek\n A Bethesda Gyermekk\u00f3rh\u00e1zban 2019. okt\u00f3ber \u00e9s 2024. m\u00e1rcius k\u00f6z\u00f6tt SMA miatt t\u00fcnetes \u00e9s t\u00fcnetmentes st\u00e1diumban betegs\u00e9gm\u00f3dos\u00edt\u00f3 ter\u00e1pi\u00e1ban r\u00e9szes\u00fclt gyermekek kezel\u00e9se el\u0151tti, \u00e9s azt k\u00f6vet\u0151 \u00e1llapot\u00e1nak vizsg\u00e1lata retrospekt\u00edv adatgy\u0171jt\u00e9s \u00e9s statisztikai elemz\u00e9s alapj\u00e1n.\n\nEredm\u00e9nyek\nA vizsg\u00e1lt id\u0151szakban 34 gyer\u00admek r\u00e9szes\u00fclt g\u00e9np\u00f3tl\u00f3 kezel\u00e9sben SMA miatt. Az I. csoport 28 beteg\u00e9n\u00e9l t\u00fcnetek alapj\u00e1n ker\u00fclt felismer\u00e9sre az SMA \u00e1tlagosan 7,47 (1,6\u201327) h\u00f3napos korban, betegs\u00e9gm\u00f3dos\u00edt\u00f3 ter\u00e1pi\u00e1juk 9,51 (2,0\u201331,0) h\u00f3napos korban kezd\u0151d\u00f6tt. A 3,08 (0,34\u20135,65) \u00e9ves korban v\u00e9gzett \u00e1llapotfelm\u00e9r\u00e9s alapj\u00e1n a na\u00ad ponta l\u00e9gz\u00e9st\u00e1mogat\u00e1st ig\u00e9nyl\u0151 betegek sz\u00e1ma nem v\u00e1ltozott, a minden alv\u00e1shoz l\u00e9legeztet\u00e9sre szorul\u00f3k sz\u00e1ma fel\u00e9re cs\u00f6kkent, \u00e9s h\u00e1rom betegnek visszat\u00e9rt a nyel\u00e9sk\u00e9pess\u00e9ge. Az el\u0151zetesen minden betegn\u00e9l fenn\u00e1llt mozg\u00e1sdeficit r\u00e9szleges javul\u00e1st mutatott 22 (78,57%) gyermekn\u00e9l, n\u00e9gy betegn\u00e9l stagn\u00e1lt, k\u00e9t gyermekn\u00e9l progredi\u00e1lt. A nem \u00fcl\u0151k\u00e9pes betegek mozg\u00e1sspektrum\u00e1t m\u00e9r\u0151 sk\u00e1la \u00e1tlag 14,62 (6\u201329) pontot emelkedett. Az \u00fcl\u0151k\u00e9pes gyermekeket vizsg\u00e1l\u00f3 sk\u00e1la ter\u00e1pia el\u0151tt h\u00e9t, kontrolln\u00e1l 16 betegn\u00e9l volt vizsg\u00e1lhat\u00f3; \u00e1tlag 8,36 (2\u201345) pontot emelkedett. A betegek 39,28%-a (n = 11) \u00f6sszesen 31 alkalommal ig\u00e9nyelt k\u00f3rh\u00e1zi ell\u00e1t\u00e1st akut \u00e1llapotroml\u00e1s miatt. Egy beteg 3,2 \u00e9ves kor\u00e1ban (22 h\u00f3nappal a g\u00e9nter\u00e1pia ut\u00e1n) otthon\u00e1ban elhunyt.\n\nA II. csoport hat beteg\u00e9n\u00e9l \u00fajsz\u00fcl\u00f6ttkori SMA-sz\u0171r\u00e9s r\u00e9v\u00e9n a diagn\u00f3zis \u00e1tlagosan 15,83 (10\u201327), a ter\u00e1pia 32,16 (22\u201348) napos korban t\u00f6rt\u00e9nt. \u00c1tlag 0,88 (0,25\u20131,07) \u00e9ves korban sem ig\u00e9nyeltek eszk\u00f6z\u00f6s l\u00e9gz\u00e9s- \u00e9s\/vagy t\u00e1pl\u00e1l\u00e1st\u00e1mogat\u00e1st, az \u00f6t 3 SMN- (survival motor neuron) 2-k\u00f3pi\u00e1s beteg mozg\u00e1sfejl\u0151d\u00e9se k\u00f6vette eg\u00e9szs\u00e9ges kort\u00e1rsaik\u00e9t. Egy 2 SMN2-k\u00f3pi\u00e1s, 54 ponttal indul\u00f3 \u00fajsz\u00fcl\u00f6tt lass\u00fabb mozg\u00e1sfejl\u0151d\u00e9st, \u00e9s 6 pontos emelked\u00e9st \u00e9rt el, \u00f6n\u00e1ll\u00f3an nem \u00fcl\u0151k\u00e9pes egy\u00e9ves korban.\n\nK\u00f6vetkeztet\u00e9s\nAz SMA neurol\u00f3giai s\u00fcrg\u0151ss\u00e9gk\u00e9nt tekintend\u0151 mind diagn\u00f3zis, mind ter\u00e1piakezd\u00e9s szempontj\u00e1b\u00f3l. A progresszi\u00f3 \u00e9s irreverzibilis funkci\u00f3veszt\u00e9sek megel\u0151z\u00e9s\u00e9nek egyed\u00fcli lehet\u0151s\u00e9ge a betegs\u00e9g teljes \u00fajsz\u00fcl\u00f6tt-popul\u00e1ci\u00f3ra kiterjed\u0151 automatikus sz\u0171r\u00e9se, \u00e9s a korai kezel\u00e9s. A korai diagn\u00f3zis \u00e9s betegs\u00e9gm\u00f3dos\u00edt\u00f3 ter\u00e1pia r\u00e9v\u00e9n el\u00e9rhet\u0151 t\u00fcnetmentess\u00e9g, vagy csak minim\u00e1lisan szuboptim\u00e1lis fejl\u0151d\u00e9s, a nem \u00e1gyhoz k\u00f6t\u00f6tt \u00e9letvitel, \u00e9s technol\u00f3giaf\u00fcggetlens\u00e9g az egy\u00e9n, a csal\u00e1d \u00e9s a t\u00e1rsadalom sz\u00e1m\u00e1ra egyar\u00e1nt eg\u00e9szs\u00e9gnyeres\u00e9g.<\/jats:p>","DOI":"10.18071\/isz.78.0319","type":"journal-article","created":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T08:58:06Z","timestamp":1759309086000},"page":"319-329","source":"Crossref","is-referenced-by-count":0,"title":["Betegs\u00e9gm\u00f3dos\u00edt\u00f3 ter\u00e1pi\u00e1val el\u00e9rt eredm\u00e9nyeink szimpt\u00f3m\u00e1s \u00e9s preszimpt\u00f3m\u00e1s st\u00e1diumban kezelt SMA-betegeinkn\u00e9l"],"prefix":"10.18071","volume":"78","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2899-6693","authenticated-orcid":false,"given":"Borb\u00e1la","family":"Mikos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lejla","family":"Vend\u00e9gh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernadett","family":"Bir\u00f3","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annam\u00e1ria","family":"Vicze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orsolya","family":"D\u00e9r","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronika","family":"Keszthelyi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bogl\u00e1rka","family":"Petrik-Laky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00e9ka","family":"ehrenberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Jakus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T\u00edmea","family":"Bod\u00f3","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Pat\u00f3cs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4357-6619","authenticated-orcid":false,"given":"Gy\u00f6rgy J\u00e1nos","family":"Velkey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7411","published-online":{"date-parts":[[2025]]},"container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"original-title":[],"link":[{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/results-in-our-symptomatic-and-presymptomatic-sma-patients-treated-with-disease-modifying-therapy\/pdf-open","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T08:58:06Z","timestamp":1759309086000},"score":1,"resource":{"primary":{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/results-in-our-symptomatic-and-presymptomatic-sma-patients-treated-with-disease-modifying-therapy"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":0,"journal-issue":{"issue":"9-10","published-online":{"date-parts":[[2025]]},"published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.18071\/isz.78.0319","relation":{},"ISSN":["0019-1442","2498-6208"],"issn-type":[{"value":"0019-1442","type":"print"},{"value":"2498-6208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]}}}