{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T15:24:53Z","timestamp":1785770693669,"version":"3.56.0"},"reference-count":37,"publisher":"Georg Thieme Verlag KG","issue":"01","license":[{"start":{"date-parts":[[2022,10,12]],"date-time":"2022-10-12T00:00:00Z","timestamp":1665532800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Background\u2003Dystonia is characterized by sustained or intermittent muscle contractions, leading to abnormal posturing and twisting movements. In pediatric patients, dystonia often negatively influences quality of life. Pharmacological treatment for dystonia is often inadequate and causes adverse effects. Deep brain stimulation (DBS) appears to be a valid therapeutic option for pharmacoresistant dystonia in children.<\/jats:p>\n                  <jats:p>Methods\u2003To illustrate the current clinical practice, we hereby describe two pediatric cases of monogenetic movement disorders presenting with dystonia and treated with DBS. We provide a literature review of similar previously described cases and on different clinical aspects of DBS in pediatric dystonia.<\/jats:p>\n                  <jats:p>Results\u2003The first patient, a 6-year-old girl with severe dystonia, chorea, and myoclonus due to an ADCY5 gene mutation, received DBS in an elective setting. The second patient, an 8-year-old boy with GNAO1-related dystonia and chorea, underwent emergency DBS due to a pharmacoresistant status dystonicus. A significant amelioration of motor symptoms (65% on the Burke-Fahn-Marsden Dystonia Rating Scale) was observed postoperatively in the first patient and her personal therapeutic goals were achieved. DBS was previously reported in five patients with ADCY5-related movement disorders, of which three showed objective improvement. Emergency DBS in our second patient resulted in the successful termination of his GNAO1-related status dystonicus, this being the eighth case reported in the literature.<\/jats:p>\n                  <jats:p>Conclusion\u2003DBS can be effective in monogenetic pediatric dystonia and should be considered early in the disease course. To better evaluate the effects of DBS on patients' functioning, patient-centered therapeutic goals should be discussed in a multidisciplinary approach.<\/jats:p>","DOI":"10.1055\/a-1959-9088","type":"journal-article","created":{"date-parts":[[2022,10,12]],"date-time":"2022-10-12T19:06:26Z","timestamp":1665601586000},"page":"044-052","source":"Crossref","is-referenced-by-count":15,"title":["Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases"],"prefix":"10.1055","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1823-0109","authenticated-orcid":false,"given":"M.","family":"Garofalo","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Beudel","sequence":"additional","affiliation":[{"name":"Department of Neurology, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands"},{"name":"Amsterdam Neuroscience, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.M.","family":"Dijk","sequence":"additional","affiliation":[{"name":"Department of Neurology, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands"},{"name":"Amsterdam Neuroscience, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.A.","family":"Bonouvri\u00e9","sequence":"additional","affiliation":[{"name":"Amsterdam UMC Location Vrije Universiteit Amsterdam, Rehabilitation Medicine, Amsterdam, the Netherlands"},{"name":"Amsterdam Movement Sciences, Rehabilitation and Development, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5662-2843","authenticated-orcid":false,"given":"A.I.","family":"Buizer","sequence":"additional","affiliation":[{"name":"Amsterdam UMC Location Vrije Universiteit Amsterdam, Rehabilitation Medicine, Amsterdam, the Netherlands"},{"name":"Amsterdam Movement Sciences, Rehabilitation and Development, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Geytenbeek","sequence":"additional","affiliation":[{"name":"Amsterdam UMC Location Vrije Universiteit Amsterdam, Rehabilitation Medicine, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.H.N.","family":"Prins","sequence":"additional","affiliation":[{"name":"Department of Neurology, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.R.","family":"Schuurman","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Amsterdam UMC, Location University of Amsterdam, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.A.","family":"van de Pol","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, the Netherlands"},{"name":"Department of Child Neurology, Amsterdam UMC, Location Vrije Universiteit Amsterdam, Amsterdam, the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2022,12,27]]},"reference":[{"issue":"11","key":"ref1","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1002\/mds.23088","article-title":"Definition and classification of hyperkinetic movements in childhood","volume":"25","author":"T D Sanger","year":"2010","journal-title":"Mov Disord"},{"issue":"07","key":"ref2","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1136\/jnnp-2014-309106","article-title":"Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm","volume":"86","author":"M E van Egmond","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"02","key":"ref3","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/dmcn.12339","article-title":"Status dystonicus: a practice guide","volume":"56","author":"N M Allen","year":"2014","journal-title":"Dev Med Child Neurol"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.parkreldis.2018.08.008","article-title":"Motor and non-motor determinants of health-related quality of life in young dystonia patients","volume":"58","author":"H Eggink","year":"2019","journal-title":"Parkinsonism Relat Disord"},{"issue":"02","key":"ref5","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.ejpn.2018.01.006","article-title":"Diagnosis and treatment of pediatric onset isolated dystonia","volume":"22","author":"G Zorzi","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"issue":"01","key":"ref6","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1002\/ana.25498","article-title":"The effect of intrathecal baclofen in dyskinetic cerebral palsy: the IDYS trial","volume":"86","author":"L A Bonouvri\u00e9","year":"2019","journal-title":"Ann Neurol"},{"issue":"10","key":"ref7","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1080\/14737175.2018.1523721","article-title":"Deep brain stimulation for childhood dystonia: current evidence and emerging practice","volume":"18","author":"L M Elkaim","year":"2018","journal-title":"Expert Rev Neurother"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.parkreldis.2020.08.030","article-title":"Low-frequency oscillation suppression in dystonia: implications for adaptive deep brain stimulation","volume":"79","author":"D Pi\u00f1a-Fuentes","year":"2020","journal-title":"Parkinsonism Relat Disord"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"100896","DOI":"10.1016\/j.spen.2021.100896","article-title":"Deep brain stimulation for pediatric dystonia","volume":"38","author":"T Larsh","year":"2021","journal-title":"Semin Pediatr Neurol"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"630391","DOI":"10.3389\/fneur.2020.630391","article-title":"Pallidal deep brain stimulation for monogenic dystonia: the effect of gene on outcome","volume":"11","author":"S Tisch","year":"2021","journal-title":"Front Neurol"},{"issue":"02","key":"ref11","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/s40141-020-00258-4","article-title":"Neuromodulation in childhood onset dystonia: evolving role of deep brain stimulation","volume":"8","author":"W A Marks","year":"2020","journal-title":"Curr Phys Med Rehabil Rep"},{"issue":"06","key":"ref12","doi-asserted-by":"crossref","first-page":"566","DOI":"10.3171\/2011.8.PEDS11153","article-title":"Deep brain stimulation in children: experience and technical pearls","volume":"8","author":"E L Air","year":"2011","journal-title":"J Neurosurg Pediatr"},{"issue":"10","key":"ref13","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1007\/s00381-012-1861-2","article-title":"Pediatric indications for deep brain stimulation","volume":"28","author":"M F DiFrancesco","year":"2012","journal-title":"Childs Nerv Syst"},{"issue":"01","key":"ref14","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/dmcn.14063","article-title":"Deep brain stimulation for pediatric dystonia: a meta-analysis with individual participant data","volume":"61","author":"L M Elkaim","year":"2019","journal-title":"Dev Med Child Neurol"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1093\/brain\/awn120","article-title":"Outcome predictors of pallidal stimulation in patients with primary dystonia: the role of disease duration","volume":"131","author":"I U Isaias","year":"2008","journal-title":"Brain"},{"issue":"03","key":"ref16","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1007\/s10143-018-1047-9","article-title":"Deep brain stimulation in pediatric dystonia: a systematic review","volume":"43","author":"A T Hale","year":"2020","journal-title":"Neurosurg Rev"},{"issue":"02","key":"ref17","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1109\/TNSRE.2007.896994","article-title":"The physiological effects of pallidal deep brain stimulation in dystonia","volume":"15","author":"S Tisch","year":"2007","journal-title":"IEEE Trans Neural Syst Rehabil Eng"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"3012","DOI":"10.1093\/brain\/awu258","article-title":"Deep brain stimulation suppresses pallidal low frequency activity in patients with phasic dystonic movements","volume":"137","author":"E Barow","year":"2014","journal-title":"Brain"},{"issue":"23","key":"ref19","doi-asserted-by":"crossref","first-page":"2026","DOI":"10.1212\/WNL.0000000000002058","article-title":"ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations","volume":"85","author":"D H Chen","year":"2015","journal-title":"Neurology"},{"issue":"06","key":"ref20","doi-asserted-by":"crossref","first-page":"439","DOI":"10.7326\/L19-0038","article-title":"Caffeine and the dyskinesia related to mutations in the ADCY5 gene","volume":"171","author":"A M\u00e9neret","year":"2019","journal-title":"Ann Intern Med"},{"issue":"07","key":"ref21","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1002\/mdc3.12816","article-title":"ADCY5\u2013related dyskinesia: improving clinical detection of an evolving disorder","volume":"6","author":"N Vijiaratnam","year":"2019","journal-title":"Mov Disord Clin Pract (Hoboken)"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.nbd.2018.05.005","article-title":"A mechanistic review on GNAO1-associated movement disorder","volume":"116","author":"H Feng","year":"2018","journal-title":"Neurobiol Dis"},{"issue":"02","key":"ref23","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1136\/jnnp-2017-315653","article-title":"GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS","volume":"89","author":"M Waak","year":"2018","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.jns.2018.05.018","article-title":"Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia","volume":"391","author":"A Koy","year":"2018","journal-title":"J Neurol Sci"},{"issue":"10","key":"ref25","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1007\/s10072-019-03964-7","article-title":"GNAO1 mutation presenting as dyskinetic cerebral palsy","volume":"40","author":"M J Malaquias","year":"2019","journal-title":"Neurol Sci"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.pediatrneurol.2021.05.005","article-title":"Results of the first GNAO1-related neurodevelopmental disorders caregiver survey","volume":"121","author":"E Axeen","year":"2021","journal-title":"Pediatr Neurol"},{"issue":"09","key":"ref27","first-page":"321","article-title":"[GNAO1: a new gene to consider on early-onset childhood dystonia]","volume":"66","author":"C Marecos","year":"2018","journal-title":"Rev Neurol"},{"issue":"07","key":"ref28","doi-asserted-by":"crossref","first-page":"1168","DOI":"10.1002\/mds.27357","article-title":"Deep brain stimulation treated dystonia-trajectory via status dystonicus","volume":"33","author":"E Nerrant","year":"2018","journal-title":"Mov Disord"},{"issue":"06","key":"ref29","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1002\/mds.24981","article-title":"Status dystonicus: predictors of outcome and progression patterns of underlying disease","volume":"27","author":"A Fasano","year":"2012","journal-title":"Mov Disord"},{"issue":"07","key":"ref30","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1002\/mds.25579","article-title":"Dystonia rating scales: critique and recommendations","volume":"28","author":"A Albanese","year":"2013","journal-title":"Mov Disord"},{"issue":"03","key":"ref31","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.ejpn.2013.12.010","article-title":"Evaluation of functional goal outcomes using the Canadian Occupational Performance Measure (COPM) following Deep Brain Stimulation (DBS) in childhood dystonia","volume":"18","author":"H Gimeno","year":"2014","journal-title":"Eur J Paediatr Neurol"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"2","DOI":"10.5334\/tohm.69","article-title":"The effectiveness of deep brain stimulation in dystonia: a patient-centered approach","volume":"10","author":"H Eggink","year":"2020","journal-title":"Tremor Other Hyperkinet Mov (N Y)"},{"issue":"01","key":"ref33","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.ejpn.2016.07.024","article-title":"Complications of deep brain stimulation (DBS) for dystonia in children - the challenges and 10 year experience in a large paediatric cohort","volume":"21","author":"M Kaminska","year":"2017","journal-title":"Eur J Paediatr Neurol"},{"issue":"05","key":"ref34","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/j.brs.2019.04.003","article-title":"Adverse events associated with deep brain stimulation in patients with childhood-onset dystonia","volume":"12","author":"A Koy","year":"2019","journal-title":"Brain Stimul"},{"issue":"01","key":"ref35","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/j.ejpn.2016.06.002","article-title":"PEDiDBS: The pediatric international deep brain stimulation registry project","volume":"21","author":"W Marks","year":"2017","journal-title":"Eur J Paediatr Neurol"},{"issue":"02","key":"ref36","doi-asserted-by":"crossref","first-page":"E3","DOI":"10.3171\/2018.5.FOCUS18155","article-title":"Toward adaptive deep brain stimulation for dystonia","volume":"45","author":"D Pi\u00f1a-Fuentes","year":"2018","journal-title":"Neurosurg Focus"},{"issue":"04","key":"ref37","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1007\/s00234-015-1639-9","article-title":"Fractional anisotropy in children with dystonia or spasticity correlates with the selection for DBS or ITB movement disorder surgery","volume":"58","author":"D E Lumsden","year":"2016","journal-title":"Neuroradiology"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-1959-9088.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T00:02:53Z","timestamp":1762214573000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-1959-9088"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,12]]},"references-count":37,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2023,1,16]]},"published-print":{"date-parts":[[2023,2]]}},"URL":"https:\/\/doi.org\/10.1055\/a-1959-9088","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,10,12]]},"published":{"date-parts":[[2022,10,12]]}}}