{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T09:57:42Z","timestamp":1787738262086,"version":"build-2784847793"},"reference-count":31,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2025,4,7]],"date-time":"2025-04-07T00:00:00Z","timestamp":1743984000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Although initial clinical presentation of hyperekplexia\/startle disease is well known, data regarding long\u2010term clinical outcomes is lacking.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>We provide a long\u2010term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty\u2010eight patients from nine French hospitals were included based on clinical diagnosis criteria. Adaptive abilities were assessed using VABS\u2010II.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>VABS\u2010II showed preserved adaptive abilities, except in motor skills. Early development was marked by neurodevelopmental delay in 53% of patients, with 57% developing neurodevelopmental disorders, primarily specific learning disorders. Intellectual disability and\/or autism spectrum disorder were present in five patients. Symptoms were most frequent during the first 3\u2009years of life, with persistence of exaggerated startle reflex and falls. One\u2010quarter of the patients discontinued clonazepam. A genetic variant was found in 85% of patients, involving one of the three main genes <jats:italic>GLRA1<\/jats:italic>, <jats:italic>SLC6A5<\/jats:italic>, or <jats:italic>GLRB<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings highlight preserved adaptive abilities, frequent neurodevelopmental disorders and long\u2010term pharmacodependence.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.70071","type":"journal-article","created":{"date-parts":[[2025,4,7]],"date-time":"2025-04-07T09:51:45Z","timestamp":1744019505000},"page":"1367-1373","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>STARDEV<\/scp> Study: Neurodevelopmental Trajectory and Long\u2010Term Outcomes of Patients with Startle Disease\/Hyperekplexia"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-8136-0395","authenticated-orcid":false,"given":"Diane","family":"Pina","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital Femme\u2010M\u00e8re\u2010Enfant  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agathe","family":"Roubertie","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology CHU Montpellier, INM, INSERM U1298  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Aude","family":"Spitz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital de Hautepierre  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Ravelli","sequence":"additional","affiliation":[{"name":"AP\u2010HP. Sorbonne Universit\u00e9, Service de Neurop\u00e9diatrie et Centre de R\u00e9f\u00e9rence Neurog\u00e9n\u00e9tique, H\u00f4pital Armand Trousseau  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Bahi\u2010Buisson","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital Necker\u2013Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farha","family":"Gheurbi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital Femme\u2010M\u00e8re\u2010Enfant  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Buchy","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital Femme\u2010M\u00e8re\u2010Enfant  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Loppinet","sequence":"additional","affiliation":[{"name":"Clinical Investigation Center, H\u00f4pital Louis Pradel  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Chemaly\u2010Perin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology H\u00f4pital Necker\u2013Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Christine","family":"Nougues","sequence":"additional","affiliation":[{"name":"AP\u2010HP. 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