{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T04:14:12Z","timestamp":1748405652245,"version":"3.41.0"},"reference-count":29,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T00:00:00Z","timestamp":1738281600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>Resumen<\/jats:title><jats:sec><jats:title>Objetivo<\/jats:title><jats:p>Investigar la progresi\u00f3n natural de la diston\u00eda miocl\u00f3nica causada por variantes patog\u00e9nicas de <jats:italic>SGCE<\/jats:italic> desde el inicio de los s\u00edntomas en la infancia hasta la edad adulta temprana.<\/jats:p><\/jats:sec><jats:sec><jats:title>M\u00e9todos<\/jats:title><jats:p>En dos cohortes de pacientes de Espa\u00f1a y los Pa\u00edses Bajos, se realiz\u00f3 un seguimiento de las mioclon\u00edas y la diston\u00eda mediante escalas de valoraci\u00f3n. Se calcularon las tasas de cambio anualizadas individuales y se evaluaron las tendencias longitudinales mediante modelos mixtos bayesianos. Las caracter\u00edsticas psiqui\u00e1tricas se evaluaron transversalmente en la cohorte espa\u00f1ola.<\/jats:p><\/jats:sec><jats:sec><jats:title>Resultados<\/jats:title><jats:p>Treinta y ocho pacientes (21 varones; 17 mujeres) fueron evaluados a los 10\u2009\u00b1\u20094,6 a\u00f1os (rango 2\u201321) y a los 14,2\u2009\u00b1\u20094,7 a\u00f1os (rango 4\u201325). Se observ\u00f3 un empeoramiento significativo de la mioclon\u00eda de acci\u00f3n, la diston\u00eda global y la diston\u00eda durante la escritura (incrementos medios anuales de 1,356, 0,226 y 0,518 en las escalas de valoraci\u00f3n Unified Myoclonus Rating Scale, Burke\u2010Fahn\u2010Marsden Dystonia Rating Scale y Writer's Cramp Rating Scale, respectivamente). En consecuencia, los pacientes percibieron un empeoramiento significativo de sus capacidades para hablar, escribir y caminar. Veintis\u00e9is de los 32 pacientes padec\u00edan trastornos de ansiedad (<jats:italic>n<\/jats:italic>\u2009=\u200913), obsesivo\u2010compulsivos (<jats:italic>n<\/jats:italic>\u2009=\u20099) y\/o d\u00e9ficit de atenci\u00f3n con hiperactividad (<jats:italic>n<\/jats:italic>\u2009=\u20098).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretaci\u00f3n<\/jats:title><jats:p>Este estudio demuestra que, a diferencia de lo que ocurre en la poblaci\u00f3n adulta, la diston\u00eda miocl\u00f3nica en la infancia y la adolescencia sigue un curso progresivo que puede ser debilitante en las primeras etapas de la vida. Estos hallazgos, junto con una alta prevalencia de s\u00edntomas psiqui\u00e1tricos, ponen de relieve la necesidad de intervenciones terap\u00e9uticas tempranas para prevenir secuelas motoras y psicol\u00f3gicas a largo plazo.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.16215","type":"journal-article","created":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T18:05:10Z","timestamp":1738346710000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Historia natural de la diston\u00eda miocl\u00f3nica asociada a variantes de <scp><i>SGCE<\/i><\/scp> en ni\u00f1os y adolescentes"],"prefix":"10.1111","volume":"67","author":[{"given":"Valeria","family":"De Francesch","sequence":"first","affiliation":[{"name":"Unidad de Neuropsiquiatr\u00eda Infantil y Adolescente AULSS1 Dolomiti, Hospital San Martino  Belluno Italia"},{"name":"Grupo de Investigaci\u00f3n de Terapias Innovadoras en Neurolog\u00eda Pedi\u00e1trica Instituto de Investigaci\u00f3n Vall d'Hebron"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Cazurro\u2010Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Grupo de Investigaci\u00f3n de Terapias Innovadoras en Neurolog\u00eda Pedi\u00e1trica Instituto de Investigaci\u00f3n Vall d'Hebron"},{"name":"Departamento de Pediatr\u00eda Universidad Aut\u00f3noma de Barcelona"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elze R.","family":"Timmers","sequence":"additional","affiliation":[{"name":"Centro Especializado en Trastornos del Movimiento de Groninga, Departamento de Neurolog\u00eda, Centro M\u00e9dico Universitario de Groningen Universidad de Groningen  Groningen Pa\u00edses Bajos"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gemma","family":"Espa\u00f1ol\u2010Mart\u00edn","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda Universidad Aut\u00f3noma de Barcelona"},{"name":"Departamento de Pediatr\u00eda Neurolog\u00eda Pedi\u00e1trica y Psiquiatr\u00eda, Hospital Vall d'Hebron"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red sobre Salud Mental (CIBERSAM)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Ferrero\u2010Turri\u00f3n","sequence":"additional","affiliation":[{"name":"Grupo de Investigaci\u00f3n de Terapias Innovadoras en Neurolog\u00eda Pedi\u00e1trica Instituto de Investigaci\u00f3n Vall d'Hebron"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"G\u00f3mez\u2010Andr\u00e9s","sequence":"additional","affiliation":[{"name":"Grupo de Investigaci\u00f3n de Terapias Innovadoras en Neurolog\u00eda Pedi\u00e1trica Instituto de Investigaci\u00f3n Vall d'Hebron"},{"name":"Departamento de Pediatr\u00eda Neurolog\u00eda Pedi\u00e1trica y Psiquiatr\u00eda, Hospital Vall d'Hebron"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Marc\u00e9\u2010Grau","sequence":"additional","affiliation":[{"name":"Grupo de Investigaci\u00f3n de Terapias Innovadoras en Neurolog\u00eda Pedi\u00e1trica Instituto de Investigaci\u00f3n Vall d'Hebron"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luc\u00eda","family":"Dougherty\u2010de Miguel","sequence":"additional","affiliation":[{"name":"Grupo de Investigaci\u00f3n de Terapias Innovadoras en Neurolog\u00eda Pedi\u00e1trica Instituto de Investigaci\u00f3n Vall d'Hebron"},{"name":"Departamento de Pediatr\u00eda Neurolog\u00eda Pedi\u00e1trica y Psiquiatr\u00eda, Hospital Vall d'Hebron"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Grupo de Investigaci\u00f3n de Terapias Innovadoras en Neurolog\u00eda Pedi\u00e1trica Instituto de Investigaci\u00f3n Vall d'Hebron"},{"name":"Departamento de Pediatr\u00eda Neurolog\u00eda Pedi\u00e1trica y Psiquiatr\u00eda, Hospital Vall d'Hebron"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Moreno\u2010Gald\u00f3","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda Universidad Aut\u00f3noma de Barcelona"},{"name":"Departamento de Pediatr\u00eda Neurolog\u00eda Pedi\u00e1trica y Psiquiatr\u00eda, Hospital Vall d'Hebron"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina A. 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