STARDEV Study: Neurodevelopmental Trajectory and Long‐Term Outcomes of Patients with Startle Disease/Hyperekplexia
Year: 2025
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long-term clinical outcomes is lacking. OBJECTIVES: We provide a long-term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory. METHODS: Twenty-eight patients from nine French hospitals were included based on clinical diagnosis criteria. Adaptive abilities were assessed using VABS-II. RESULTS: VABS-II 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 years of life, with persistence of exaggerated startle reflex and falls. One-quarter of the patients discontinued clonazepam. A genetic variant was found in 85% of patients, involving one of the three main genes GLRA1, SLC6A5, or GLRB. CONCLUSIONS: Our findings highlight preserved adaptive abilities, frequent neurodevelopmental disorders and long-term pharmacodependence.
DOI: 10.1002/mdc3.70071
Authors: Diane Pina, Agathe Roubertie, Marie‐Aude Spitz, Claudia Ravelli, Nadia Bahi‐Buisson, Farha Gheurbi, Marion Buchy, Thomas Loppinet, Nicole Chemaly‐Perin, Marie‐Christine Nougues, Benedicte Heron, Regis Lopez, Mathieu Anheim, Mélanie Fradin, Claude Cances, Justine Avez‐Couturier, Fabienne Dalmon, Gaëtan Lesca, Vincent Des Portes, Laurence Lion‐François
Institutions: Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Inserm, Centre Hospitalier Universitaire de Montpellier, Institute for Neurosciences of Montpellier, Hôpital d'Hautepierre, Sorbonne Université, Hôpital Armand-Trousseau, Hôpital Necker-Enfants Malades, Hôpital Louis Pradel, Hôpital Gui de Chauliac, Centre Hospitalier Universitaire de Rennes, Hôpital des Enfants, Hôpital Roger Salengro, Lyon 1 Université
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $3,400
OpenAlex ID: W4409234209