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| Verfasst von: | Thalwitzer, Kim M. [VerfasserIn]  |
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| | Driedger, Jan Henje [VerfasserIn] |
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| | Xian, Julie [VerfasserIn] |
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| | Saffari, Afshin [VerfasserIn] |
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| | Zacher, Pia [VerfasserIn] |
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| | Bölsterli, Bigna K. [VerfasserIn] |
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| | McKeown Ruggiero, Sarah [VerfasserIn] |
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| | Sullivan, Katie Rose [VerfasserIn] |
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| | Datta, Alexandre N. [VerfasserIn] |
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| | Kellinghaus, Christoph [VerfasserIn] |
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| | Althaus, Jürgen [VerfasserIn] |
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| | Wiemer-Kruel, Adelheid [VerfasserIn] |
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| | van Baalen, Andreas [VerfasserIn] |
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| | Pampel, Armin [VerfasserIn] |
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| | Alber, Michael [VerfasserIn] |
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| | Braakman, Hilde M. H. [VerfasserIn] |
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| | Debus, Otfried Martin [VerfasserIn] |
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| | Denecke, Jonas [VerfasserIn] |
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| | Hobbiebrunken, Elke [VerfasserIn] |
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| | Breitweg, Ina [VerfasserIn] |
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| | Diehl, Danielle [VerfasserIn] |
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| | Eitel, Hans Christian [VerfasserIn] |
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| | Gburek-Augustat, Janina [VerfasserIn] |
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| | Preisel, Martin [VerfasserIn] |
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| | Schlump, Jan-Ulrich [VerfasserIn] |
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| | Laufs, Mirjam [VerfasserIn] |
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| | Mammadova, Dilbar [VerfasserIn] |
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| | Wurst, Carsten [VerfasserIn] |
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| | Prager, Christine [VerfasserIn] |
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| | Löhr-Nilles, Christa [VerfasserIn] |
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| | Martin, Peter [VerfasserIn] |
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| | Garbade, Sven [VerfasserIn] |
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| | Platzer, Konrad [VerfasserIn] |
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| | Benkel-Herrenbrueck, Ira [VerfasserIn] |
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| | Egler, Kerstin [VerfasserIn] |
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| | Fazeli, Walid [VerfasserIn] |
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| | Lemke, Johannes R. [VerfasserIn] |
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| | Runkel, Eva [VerfasserIn] |
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| | Klein, Barbara [VerfasserIn] |
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| | Linden, Tobias [VerfasserIn] |
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| | Schröter, Julian [VerfasserIn] |
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| | Steffeck, Heike [VerfasserIn] |
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| | Thies, Bastian [VerfasserIn] |
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| | Deimling, Florian von [VerfasserIn] |
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| | Illsinger, Sabine [VerfasserIn] |
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| | Borggräfe, Ingo [VerfasserIn] |
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| | Classen, Georg [VerfasserIn] |
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| | Wieczorek, Dagmar [VerfasserIn] |
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| | Ramantani, Georgia [VerfasserIn] |
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| | Kölker, Stefan [VerfasserIn] |
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| | Hoffmann, Georg F. [VerfasserIn] |
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| | Ries, Markus [VerfasserIn] |
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| | Helbig, Ingo [VerfasserIn] |
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| | Syrbe, Steffen [VerfasserIn] |
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| Titel: | Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1 |
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| Verf.angabe: | Kim M. Thalwitzer, Jan H. Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Bigna K. Bölsterli, Sarah McKeown Ruggiero, Katie Rose Sullivan, Alexandre N. Datta, Christoph Kellinghaus, Jürgen Althaus, Adelheid Wiemer-Kruel, Andreas van Baalen, Armin Pampel, Michael Alber, Hilde M. H. Braakman, Otfried M. Debus, Jonas Denecke, Elke Hobbiebrunken, Ina Breitweg, Danielle Diehl, Hans Eitel, Janina Gburek-Augustat, Martin Preisel, Jan-Ulrich Schlump, Mirjam Laufs, Dilbar Mammadova, Carsten Wurst, Christine Prager, Christa Löhr-Nilles, Peter Martin, Sven F. Garbade, Konrad Platzer, Ira Benkel-Herrenbrueck, Kerstin Egler, Walid Fazeli, Johannes R. Lemke, Eva Runkel, Barbara Klein, Tobias Linden, Julian Schröter, Heike Steffeck, Bastian Thies, Florian von Deimling, Sabine Illsinger, Ingo Borggraefe, Georg Classen, Dagmar Wieczorek, Georgia Ramantani, Stefan Koelker, Georg F. Hoffmann, Markus Ries, Ingo Helbig, Steffen Syrbe |
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| E-Jahr: | 2023 |
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| Jahr: | July 05, 2023 |
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| Umfang: | 13 S. |
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| Fussnoten: | Gesehen am 17.07.2023 |
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| Titel Quelle: | Enthalten in: Neurology |
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| Ort Quelle: | Philadelphia, Pa. : Wolters Kluwer, 1951 |
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| Jahr Quelle: | 2023 |
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| Band/Heft Quelle: | 101(2023), 9, Seite e879-e891 |
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| ISSN Quelle: | 1526-632X |
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| Abstract: | BACKGROUND AND OBJECTIVES: Pathogenic variants in STXBP1 are among the major genetic causes of neurodevelopmental disorders. Despite the increasing number of individuals diagnosed without a history of epilepsy, little is known about the natural history and developmental trajectories in this subgroup and endpoints for future therapeutic studies are limited to seizure control. - METHODS: We performed a cross-sectional retrospective study using standardized questionnaires for clinicians and caregivers of individuals with STXBP1-related disorders capturing medical histories, genetic findings, and developmental outcomes. Motor and language function were assessed using Gross Motor Function Classification System scores (GMFCS) and a speech impairment score and were compared within and across clinically defined subgroups. - RESULTS: We collected data of 71 individuals with STXBP1-related disorders, including 44 previously unreported individuals. Median age at inclusion was 5.3 years (IQR = 3.5-9.3) with the oldest individual aged 43.8 years. Epilepsy was absent in 18/71 (25%) of individuals. The range of developmental outcomes was broad, including two individuals presenting with close to age-appropriate motor development. 29/61 (48%) individuals were able to walk unassisted and 24/69 (35%) were able to speak single words. Individuals without epilepsy presented with a similar onset and spectrum of phenotypic features but had lower GMFCS scores (median 3 vs. 4, p < 0.01) than individuals with epilepsy. Individuals with epileptic spasms were less likely to walk unassisted than individuals with other seizure types (6% vs. 58%, p < 0.01). Individuals with early epilepsy onset had higher speech impairment scores (p = 0.02) than individuals with later epilepsy onset. - DISCUSSION: We expand the spectrum of STXBP1-related disorders and provide clinical features and developmental trajectories in individuals with and without a history of epilepsy. Individuals with epilepsy, in particular epileptic spasms, and neonatal or early-onset, presented with less favorable motor and language functional outcomes compared to individuals without epilepsy. These findings identify children at risk for severe disease and can serve as comparator for future interventional studies in STXBP1-related disorders. |
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| DOI: | doi:10.1212/WNL.0000000000207550 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Resolving-System: https://doi.org/10.1212/WNL.0000000000207550 |
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| | DOI: https://doi.org/10.1212/WNL.0000000000207550 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 185276712X |
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| Verknüpfungen: | → Zeitschrift |
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Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1 / Thalwitzer, Kim M. [VerfasserIn]; July 05, 2023 (Online-Ressource)
