Sistema de Salut de Catalunya
Salazar-Villacorta, Ainara
Folch-Benito, Marta
Lucero-Garófano, Álvaro
Macaya Ruíz, Alfons
Loredo, Martha
Toro Tamargo, Esther
Figueroa Vezirián, Margarita
Cazurro Gutiérrez, Ana Laura
Dougherty-de Miguel, Lucia
Ferrero-Turrion, Julia
Marcé-Grau, Anna
Moreno-Galdó, Antonio
GONZALEZ, Victoria
Español Martin, Gemma
Delgado Alvarez, Ignacio
Bescós, Agustín
PEREZ DUEÑAS, BELEN
Institut Català de la Salut
[Salazar-Villacorta A] Vall d’Hebron Hospital Universitari, Barcelona, Spain. University College London, Institute of Neurology, London, United Kingdom. [Cazurro-Gutiérrez A, Lucero-Garófano Á] Vall d’Hebron Institut Recerca (VHIR), Barcelona, Spain. Departments of Pediatrics and Psychiatry, Universitat Autònoma de Barcelona, Bellaterrra, Spain. [Dougherty-de Miguel L, Ferrero-Turrión J, Folch-Benito M, González MV, Delgado I] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut Recerca (VHIR), Barcelona, Spain. [Marcé-Grau A] Vall d’Hebron Institut Recerca (VHIR), Barcelona, Spain. [Macaya A] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut Recerca (VHIR), Barcelona, Spain. Departments of Pediatrics and Psychiatry, Universitat Autònoma de Barcelona, Bellaterra, Spain. European Reference Network for Rare Neurological Diseases (ERNRND), Barcelona, Spain. [Moreno-Galdo A] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departments of Pediatrics and Psychiatry, Universitat Autònoma de Barcelona, Bellaterra, Spain. Biomedical Research Networking Center on Rare Diseases (CIBERER), Group CB6/07/0063. [Español-Martín G] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut Recerca (VHIR), Barcelona, Spain. Departments of Pediatrics and Psychiatry, Universitat Autònoma de Barcelona, Bellaterra, Spain. Biomedical Research Networking Center on Mental Health (CIBERSAM), Group CB15/00154. [Loredo M, Toro-Tamargo E, Figueroa M, Bescós A] Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Pérez-Dueñas B] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut Recerca (VHIR), Barcelona, Spain. Departments of Pediatrics and Psychiatry, Universitat Autònoma de Barcelona, Bellaterra, Spain. European Reference Network for Rare Neurological Diseases (ERNRND), Barcelona, Spain. Biomedical Research Networking Center on Rare Diseases (CIBERER), Group CB6/07/0063
Vall d'Hebron Barcelona Hospital Campus
2025-11-06T09:53:50Z
2025-11-06T09:53:50Z
2025-10
Estimulación cerebral profunda; Distonía mioclónica; Calidad de vida
Deep brain stimulation; Myoclonus dystonia; Quality of Life
Estimulació cerebral profunda; Distonia mioclònica; Qualitat de vida
Background Deep brain stimulation of the globus pallidus internus (DBS-GPi) has shown efficacy in adult patients with SGCE-related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited. Objectives The aim was to evaluate motor and non-motor outcomes following DBS-GPi intervention in children and adolescents with SGCE-MD. Methods Ten patients (mean age 12.8 ± 3.4 years) underwent DBS-GPi. Blinded experts rated patients with the Unified Myoclonus, Burke-Fahn-Marsden, Writer's cramp and Gait Dystonia rating scales. Psychiatric and quality-of-life outcomes were evaluated using the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria and Quality of Life in Neurological Disorders. Results Significant improvements were observed in myoclonus (68.1%), generalized dystonia (63.2%), and dystonia during writing (48.1%), walking (70.3%) and running (44.2%) after 3.8 ± 2.4 years of the surgery. Psychiatric symptoms remained stable, while quality-of-life assessments revealed reductions in anxiety, fatigue, and stigma (P < 0.05). Conclusions DBS-GPi in children with SGCE-myoclonus dystonia mitigates long-term disability, potentially enhancing academic, social, and professional prospects.
The authors declare no potential conflict of interest with the present work. This work was supported by Instituto de Salud Carlos III (grant numbers PI21/00248, PI24/01083, and FORT23/00034) and the Boston Scientific Corporation (grant number PR[AMI]481/2021). A.S.V. was supported by La Caixa Postgraduate Abroad fellowship. A.C.G. was supported by the Agency for Management of University and Research Grants, AGAUR (2022 FI_B 00996). A.M.G. is granted a postdoctoral contract funded by Instituto de Salud Carlos III (ISCIII) through the project FORT23/00034.
English
Pacients - Satisfacció; Cervell - Estimulació; Infants; Distonia - Tractament; HEALTH CARE::Environment and Public Health::Public Health::Epidemiologic Measurements::Demography::Health Status::Quality of Life; ANATOMY::Nervous System::Central Nervous System::Brain::Prosencephalon::Telencephalon::Cerebrum::Basal Ganglia::Corpus Striatum::Globus Pallidus; DISEASES::Nervous System Diseases::Central Nervous System Diseases::Movement Disorders::Dystonic Disorders; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Electric Stimulation Therapy::Deep Brain Stimulation; NAMED GROUPS::Persons::Age Groups::Child; ATENCIÓN DE SALUD::ambiente y salud pública::salud pública::medidas epidemiológicas::demografía::estado de salud::calidad de vida; ANATOMÍA::sistema nervioso::sistema nervioso central::encéfalo::prosencéfalo::telencéfalo::cerebro::ganglios basales::cuerpo estriado::globo pálido; ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::trastornos del movimiento::trastornos distónicos; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::tratamiento con estimulación eléctrica::estimulación encefálica profunda; DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::niño
Wiley
Movement Disorders;40(10)
https://doi.org/10.1002/mds.30309
info:eu-repo/grantAgreement/ES/PE2017-2020/PI21%2F00248
info:eu-repo/grantAgreement/ES/PEICTI2021-2023/PI24%2F01083
Attribution-NonCommercial-NoDerivatives 4.0 International
http://creativecommons.org/licenses/by-nc-nd/4.0/
Articles científics - HVH [3375]
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