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Natural history of SGCE‐associated myoclonus dystonia in children and adolescents

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Titel: Natural history of SGCE‐associated myoclonus dystonia in children and adolescents
Autoren: Valeria De Francesch, Ana Cazurro‐Gutiérrez, Elze R. Timmers, Gemma Español‐Martín, Julia Ferrero‐Turrión, David Gómez‐Andrés, Anna Marcé‐Grau, Lucía Dougherty‐de Miguel, Victoria González, Antonio Moreno‐Galdó, Marina A. J. Tijssen, Belén Pérez‐Dueñas
Weitere Verfasser: Universitat Autònoma de Barcelona, Institut Català de la Salut, [De Francesch V] Child and Adolescent Neuropsychiatry Unit, AULSS1 Dolomiti, San Martino Hospital, Belluno, Italy. Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Cazurro-Gutiérrez A] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Departament de Pediatria, d’Obstetrícia i Ginecologia, i Medicina Preventiva i Salut Pública, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Timmers ER] Expertise Centre Movement Disorders Groningen, Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. [Español-Martín G] Departament de Pediatria, d’Obstetrícia i Ginecologia, i Medicina Preventiva i Salut Pública, Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Pediatria, Secció de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Biomedical Research Networking Center on Rare Diseases, Madrid, Spain. [Ferrero-Turrión J, Marcé-Grau A] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Gómez-Andrés D, Dougherty-de Miguel L, González V] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Servei de Pediatria, Secció de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Moreno-Galdó A] Departament de Pediatria, d’Obstetrícia i Ginecologia, i Medicina Preventiva i Salut Pública, Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Pediatria, Secció de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Biomedical Research Networking Center on Mental Health, Madrid, Spain. [Pérez-Dueñas B] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Departament de Pediatria, d’Obstetrícia i Ginecologia, i Medicina Preventiva i Salut Pública, Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Pediatria, Secció de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Biomedical Research Networking Center on Rare Diseases, Madrid, Spain. European Reference Network for Rare Neurological Diseases, Tübingen, Germany, Vall d'Hebron Barcelona Hospital Campus
Quelle: Dev Med Child Neurol
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Universitat Autònoma de Barcelona
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Verlagsinformationen: Wiley, 2024.
Publikationsjahr: 2024
Schlagwörter: Other subheadings::Other subheadings::Other subheadings::/genetics, NAMED GROUPS::Persons::Age Groups::Child, Distonia - Prognosi, DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::adolescente, Adolescents, DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::niño, Distonia - Aspectes genètics, 03 medical and health sciences, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Movement Disorders::Dystonic Disorders, ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::progresión de la enfermedad, 0302 clinical medicine, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::trastornos del movimiento::trastornos distónicos, NAMED GROUPS::Persons::Age Groups::Adolescent, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Original Article, Infants, DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Progression
Beschreibung: AimTo investigate the natural progression of SGCE‐associated myoclonus dystonia from symptom onset in childhood to early adulthood.MethodMyoclonus and dystonia were monitored using rating scales in two cohorts of participants from Spain and the Netherlands. Individual annualized rates of change were calculated and longitudinal trends were assessed using Bayesian mixed models. Psychiatric features were evaluated cross‐sectionally in the Spanish cohort.ResultsThirty‐eight patients (21 males, 17 females) were evaluated at a mean age (SD) of 10 years (4 years 7 months; range 2–21 years) and 14 years 2 months (4 years 8 months; range 4–25 years). We observed a significant worsening of action myoclonus, global dystonia, and dystonia during writing (mean annual increases of 1.356, 0.226, and 0.518 in the Unified Myoclonus, Burke–Fahn–Marsden, and Writer's Cramp Rating Scales respectively). Accordingly, participants perceived a significant worsening in their speech, writing, and walking abilities. Twenty‐six of 32 participants suffered from anxiety (n = 13), obsessive‐compulsive disorder (n = 9), and attention‐deficit/hyperactivity disorder (n = 8).InterpretationThis study demonstrates that, unlike in the adult population, myoclonus dystonia syndrome in childhood and adolescence follows a progressive course that can be debilitating in the early stages of life. These findings, along with a high prevalence of psychiatric symptoms, highlight the need for early therapeutic interventions to prevent long‐term motor and psychological sequelae.
Publikationsart: Article
Other literature type
Dateibeschreibung: application/pdf
Sprache: English
ISSN: 1469-8749
0012-1622
DOI: 10.1111/dmcn.16214
Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/39679832
http://hdl.handle.net/11351/13096
https://research.rug.nl/en/publications/58921c0a-3de3-4138-b6d8-399769d71318
https://hdl.handle.net/11370/58921c0a-3de3-4138-b6d8-399769d71318
https://doi.org/10.1111/dmcn.16214
Rights: CC BY NC ND
URL: http://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
Dokumentencode: edsair.doi.dedup.....531d4fc7f9a701d33b7c548af57d10aa
Datenbank: OpenAIRE
Beschreibung
Abstract:AimTo investigate the natural progression of SGCE‐associated myoclonus dystonia from symptom onset in childhood to early adulthood.MethodMyoclonus and dystonia were monitored using rating scales in two cohorts of participants from Spain and the Netherlands. Individual annualized rates of change were calculated and longitudinal trends were assessed using Bayesian mixed models. Psychiatric features were evaluated cross‐sectionally in the Spanish cohort.ResultsThirty‐eight patients (21 males, 17 females) were evaluated at a mean age (SD) of 10 years (4 years 7 months; range 2–21 years) and 14 years 2 months (4 years 8 months; range 4–25 years). We observed a significant worsening of action myoclonus, global dystonia, and dystonia during writing (mean annual increases of 1.356, 0.226, and 0.518 in the Unified Myoclonus, Burke–Fahn–Marsden, and Writer's Cramp Rating Scales respectively). Accordingly, participants perceived a significant worsening in their speech, writing, and walking abilities. Twenty‐six of 32 participants suffered from anxiety (n = 13), obsessive‐compulsive disorder (n = 9), and attention‐deficit/hyperactivity disorder (n = 8).InterpretationThis study demonstrates that, unlike in the adult population, myoclonus dystonia syndrome in childhood and adolescence follows a progressive course that can be debilitating in the early stages of life. These findings, along with a high prevalence of psychiatric symptoms, highlight the need for early therapeutic interventions to prevent long‐term motor and psychological sequelae.
ISSN:14698749
00121622
DOI:10.1111/dmcn.16214