This study presents an evolving decision-making approach for deep brain stimulation (DBS) in children with movement disorders at an Australian tertiary centre.
Methods
A retrospective review of paediatric patients referred for DBS was conducted. We present decision-making determinants and clinical details for DBS referrals. We also describe assessment frameworks before and after establishment of an interdisciplinary team (IDT) model in 2017. Motor, non-motor, and functional outcomes are presented, including patient-reported outcome measures (PROMs), patient-reported experience measures (PREMs), and a qualitative sub-study.
Results
Before the IDT was established, 4 patients underwent DBS (2 idiopathic, 1 inherited, 1 acquired dystonia). The IDT considered 44 referrals, determining 25/42 unsuitable for DBS given MRI abnormalities, unsuitable phenomenology, or parental apprehension. Twelve patients underwent DBS at our centre after discussion in the IDT (11 inherited, 1 idiopathic dystonia). Treatment was most effective for inherited dystonia and severe acute motor exacerbations (SAME) (n = 4). Younger age was not a limiting factor for considering DBS. Outcome measures showed improved motor symptoms, quality of life, and satisfaction.
Conclusion
We propose an interdisciplinary framework for collaborative decision making for DBS in children including family expectations. Outcome evaluation should be multifaceted, including PROMs and PREMs that reflect patient priorities.
VogtLMYanHSantyrB, et al.Deep brain stimulation for refractory status dystonicus in children: multicenter case series and systematic review. Ann Neurol. Published online September 15, 2023. doi: 10.1002/ana.26799
2.
CoutoBGalosiSSteelD, et al.Severe acute motor exacerbations (SAME) across metabolic, developmental and genetic disorders. Mov Disord. 2024;39(9):1446-1467. doi:10.1002/mds.29905
3.
CoubesPEchenneBRoubertieA, et al.Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case. Article in French. Neurochirurgie. 1999;45(2):139-144.
4.
Kostick-QuenetKMKalwaniLTorgersonLN, et al.Deep brain stimulation for pediatric dystonia: clinicians’ perspectives on the most pressing ethical challenges. Stereotact Funct Neurosurg. 2023;101(5):301-313. doi:10.1159/000530694
5.
BriereLCWalkerMAHighFA, et al.A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. Cold Spring Harb Mol Case Stud. 2021;7(3):a005827. doi:10.1101/mcs.a005827
6.
GoodmanLDCopeHNilZ, et al.TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021;108(9):1669-1691. doi:10.1016/j.ajhg.2021.06.019
7.
JonesHFMorales-BricenoHBarwickK, et al.Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation. Mov Disord: Off J Mov Disord Soc. 2019;34(7):1079-1080. doi:10.1002/mds.27708
8.
DantiFRGalosiSRomaniM, et al.GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome. Neurol Genet. 2017;3(2):e143. doi:10.1212/NXG.0000000000000143
9.
El AchkarCMHarrerMSmithL, et al.Characterization of the GABRB2-associated neurodevelopmental disorders. Ann Neurol. 2021;89(3):573-586. doi:10.1002/ana.25985
10.
TseringDTochenLLavensteinB, et al.Considerations in deep brain stimulation (DBS) for pediatric secondary dystonia. Child's Nerv Syst.2017;33(4):631-637. doi:10.1007/s00381-017-3361-x
11.
MonbaliuEOrtibusERoelensF, et al.Rating scales for dystonia in cerebral palsy: reliability and validity. Dev Med Child Neurol. 2010;52(6):570-575. doi:10.1111/j.1469-8749.2009.03581.x
12.
WuangYPSuCY. Reliability and responsiveness of the Bruininks-Oseretsky Test of Motor Proficiency-Second Edition in children with intellectual disability. Res Dev Disabil. 2009;30(5):847-855. doi:10.1016/j.ridd.2008.12.002
13.
PintérDJanszkyJKovácsN. Minimal clinically important differences for Burke-Fahn-Marsden Dystonia Rating Scale and 36-item Short-Form Health Survey. Mov Disord. 2020;35(7):1218-1223. doi:10.1002/mds.28057
14.
MillerDJFlynnJJMPashaS, et al.Improving health-related quality of life for patients with nonambulatory cerebral palsy: who stands to gain from scoliosis surgery?J Pediatr Orthop. 2020;40(3):e186-e192. doi:10.1097/BPO.0000000000001424
15.
LawMBaptisteSCarswellAMcCollMAPolatajkoHPollockN. Canadian Occupational Performance Measure. 5th ed.CAOT Publications ACE; 2014.
16.
SarvaHRodriguez-PorcelFRiveraF, et al.The role of genetics in the treatment of dystonia with deep brain stimulation: systematic review and meta-analysis. J Neurol Sci. 2024;459:122970. doi:10.1016/j.jns.2024.122970
17.
ArtusiCADwivediARomagnoloA, et al.Differential response to pallidal deep brain stimulation among monogenic dystonias: systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2020;91(4):426-433. doi:10.1136/jnnp-2019-322169
18.
ElkaimLMAlotaibiNMSigalA, et al.Deep brain stimulation for pediatric dystonia: a meta-analysis with individual participant data. Dev Med Child Neurol. 2019;61(1):49-56. doi:10.1111/dmcn.14063
19.
ZubairUAgiandaHAYangK, et al.DBSMatchMaker: Connecting clinicians globally for deep brain stimulation in rare diseases. Mov Disord. 2025;40(4):765-767.
20.
McClellandVMFialhoDFlexney-BriscoeD, et al.Somatosensory evoked potentials and central motor conduction times in children with dystonia and their correlation with outcomes from deep brain stimulation of the globus pallidus internus. Clin Neurophysiol. 2018;129(2):473-486. doi:10.1016/j.clinph.2017.11.017
21.
KoyAKuhnAAHueblJ, et al.Quality of life after deep brain stimulation of pediatric patients with dyskinetic cerebral palsy: a prospective, single-arm, multicenter study with a subsequent randomized double-blind crossover (STIM-CP). Mov Disord. 2022;37(4):799-811. doi:10.1002/mds.28898
22.
VogtLMYangKTseG, et al.Recommendations for the management of initial and refractory pediatric status dystonicus. Mov Disord. 2024;39(9):1435-1445. doi:10.1002/mds.29794
23.
FurlanettiLLMonacoBACordeiroJGLopezWOTrippelM. Frame-based stereotactic neurosurgery in children under the age of seven: Freiburg University's experience from 99 consecutive cases. Clin Neurol Neurosurg. 2015;130:42-47. doi:10.1016/j.clineuro.2014.12.011
24.
LumsdenDEAshmoreJCharles-EdwardsGSelwayRLinJPAshkanK. Observation and modeling of deep brain stimulation electrode depth in the pallidal target of the developing brain. World Neurosurg. 2015;83(4):438-446. doi:10.1016/j.wneu.2015.01.012
25.
LumsdenDEKaminskaMGimenoH, et al.Proportion of life lived with dystonia inversely correlates with response to pallidal deep brain stimulation in both primary and secondary childhood dystonia. Dev Med Child Neurol. 2013;55(6):567-574. doi:10.1111/dmcn.12117
26.
KaminskaMPeridesSLumsdenDE, et al.Complications of deep brain stimulation (DBS) for dystonia in children—the challenges and 10 year experience in a large paediatric cohort. Eur J Paediatr Neurol. 2017;21(1):168-175. doi:10.1016/j.ejpn.2016.07.024
27.
KoyABockhornNKuhnAA, et al.Adverse events associated with deep brain stimulation in patients with childhood-onset dystonia. Brain Stimul. 2019;12(5):1111-1120. doi:10.1016/j.brs.2019.04.003
28.
CifLDemaillyDVasquesX, et al.Freezing of gait as a complication of pallidal deep brain stimulation in DYT-KMT2B patients with evidence of striatonigral degeneration. Mov Disord Clin Pract. 2022;9(7):992-996. doi:10.1002/mdc3.13519
29.
FerreiraJPatelPGuadagnoE, et al.Patient experience or patient satisfaction? A systematic review of child- and family-reported experience measures in pediatric surgery. J Pediatr Surg.2023;58(5):862-870. doi:10.1016/j.jpedsurg.2023.01.015
30.
CentenLMAckermansLBuizerAI, et al.Deep brain stimulation for dystonia in the Netherlands: a delphi study to develop national consensus. Tremor Other Hyperkinet Mov (N Y). 2025;15:47. doi:10.5334/tohm.1070
31.
HägglundGBurman-RimstedtACzubaTAlriksson-SchmidtAI. Self-versus proxy-reported pain in children with cerebral palsy: a population-based registry study of 3783 children. J Prim Care Community Health. 2020;11:2150132720911523. doi:10.1177/2150132720911523
32.
LapinBRThompsonNRSchusterAHonomichlRKatzanIL. The validity of proxy responses on patient-reported outcome measures: are proxies a reliable alternative to stroke patients’ self-report?Qual Life Res.2021;30(6):1735-1745. doi:10.1007/s11136-021-02758-9
33.
ZiniMLLBanfiG. A narrative literature review of bias in collecting patient reported outcomes measures (PROMs). Int J Environ Res Public Health. 2021;18(23):12445. doi:10.3390/ijerph182312445
34.
LorentzosMSHeymanIBaigBJ, et al.Psychiatric comorbidity is common in dystonia and other movement disorders. Arch Dis Child. 2021;106(1):62-67. doi:10.1136/archdischild-2020-319541
35.
GimenoHTustinKSelwayRLinJP. Beyond the Burke-Fahn-Marsden Dystonia Rating Scale: deep brain stimulation in childhood secondary dystonia. Eur J Paediatr Neurol. 2012;16(5):501-508. doi:10.1016/j.ejpn.2011.12.014
36.
World Health Organization. International Classification of Functioning, Disability, and Health: Children & Youth Version: ICF-CY. World Health Organization; 2007.
37.
GimenoHLinJP. The International Classification of Functioning (ICF) to evaluate deep brain stimulation neuromodulation in childhood dystonia-hyperkinesia informs future clinical & research priorities in a multidisciplinary model of care. Eur J Paediatr Neurol. 2017;21(1):147-167. doi:10.1016/j.ejpn.2016.08.016
38.
JackmanMSakzewskiLMorganC, et al.Interventions to improve physical function for children and young people with cerebral palsy: international clinical practice guideline. Dev Med Child Neurol. 2022;64(5):536-549. doi:10.1111/dmcn.15055
39.
GimenoHTustinKLumsdenDAshkanKSelwayRLinJ-P. Evaluation of functional goal outcomes using the Canadian Occupational Performance Measure (COPM) following deep brain stimulation (DBS) in childhood dystonia. Eur J Paediatr Neurol.2014;18(3):308-316. doi:10.1016/j.ejpn.2013.12.010
40.
DorfmanNSnellmanLKerleyY, et al.Hope and optimism in pediatric deep brain stimulation: key stakeholder perspectives. Neuroethics. 2023;16(3):17. doi:10.1007/s12152-023-09524-3
41.
ThompsonAGSunolR. Expectations as determinants of patient satisfaction: concepts, theory and evidence. Int J Qual Health Care.1995;7(2):127-141. doi:10.1093/intqhc/7.2.127
42.
MeagherCEKariyawasamDSConcepcionKAE, et al.Codesign and evaluation of advanced therapeutic information resources for and with families of children with neurological conditions: a mixed methods cross-sectional study. Arch Dis Child. 2025;110(4):308-315. doi:10.1136/archdischild-2024-327914
Supplementary Material
Please find the following supplemental material available below.
For Open Access articles published under a Creative Commons License, all supplemental material carries the same license as the article it is associated with.
For non-Open Access articles published, all supplemental material carries a non-exclusive license, and permission requests for re-use of supplemental material or any part of supplemental material shall be sent directly to the copyright owner as specified in the copyright notice associated with the article.
