Air EL, Ostrem JL, Sanger TD, Starr PA (2011) Deep brain stimulation in children: experience and technical pearls. J Neurosurg Pediatr 8:566–574

Article  PubMed  Google Scholar 

Barry MJ, VanSwearingen JM, Albright AL (1999) Reliability and responsiveness of the Barry-Albright Dystonia Scale. Dev Med Child Neurol 41:404–411

Article  CAS  PubMed  Google Scholar 

Boy N, Garbade SF, Heringer J, Seitz A, Kölker S, Harting I (2019) Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1. J Inherit Metab Dis 42:117–127

Article  CAS  PubMed  Google Scholar 

Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S (2018) Newborn screening: a disease-changing intervention for glutaric aciduria type 1. Ann Neurol 83:970–979

Article  CAS  PubMed  Google Scholar 

Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S (2023) Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: third revision. J Inherit Metab Dis 46:482–519

Article  CAS  PubMed  Google Scholar 

Burke RE, Fahn S, Marsden CD, Bressman SB, Moskowitz C, Friedman J (1985) Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 35:73–77

Article  CAS  PubMed  Google Scholar 

Chacón A, Mateo-Sierra O, Pérez-Sánchez JR, De la Casa-Fages B, Grandas F, De Castro P, Miranda C (2024) Long-term outcomes of GPi deep brain stimulation in a child with glutaric aciduria type 1 (GA1). Mov Disord Clin Pract 11(10):1311–1313

Article  PubMed  Google Scholar 

Coubes P, Cif L, El Fertit H, Hemm S, Vayssiere N, Serrat S, Picot MC, Tuffery S, Claustres M, Echenne B, Frerebeau P (2004) Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results. J Neurosurg 101:189–194

Article  PubMed  Google Scholar 

Coubes P, Echenne B, Roubertie A, Vayssiere N, Tuffery S, Humbertclaude V, Cambonie G, Claustres M, Frerebeau P (1999) Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case. Neurochirurgie 45:139–144

CAS  PubMed  Google Scholar 

Coubes P, Vayssiere N, El Fertit H, Hemm S, Cif L, Kienlen J, Bonafe A, Frerebeau P (2002) Deep brain stimulation for dystonia. Surgical technique. Stereotact Funct Neurosurg 78:183–191

Article  PubMed  Google Scholar 

Eliasson AC, Krumlinde-Sundholm L, Rosblad B, Beckung E, Arner M, Ohrvall AM, Rosenbaum P (2006) The Manual Ability Classification System (MACS) for children with cerebral palsy: scale development and evidence of validity and reliability. Dev Med Child Neurol 48:549–554

Article  PubMed  Google Scholar 

Elkaim LM, Alotaibi NM, Sigal A, Alotaibi HM, Lipsman N, Kalia SK, Fehlings DL, Lozano AM, Ibrahim GM (2019) Deep brain stimulation for pediatric dystonia: a meta-analysis with individual participant data. Dev Med Child Neurol 61:49–56

Article  PubMed  Google Scholar 

Eltahawy HA, Saint-Cyr J, Giladi N, Lang AE, Lozano AM (2004) Primary dystonia is more responsive than secondary dystonia to pallidal interventions: outcome after pallidotomy or pallidal deep brain stimulation. Neurosurgery 54:613–619

Article  PubMed  Google Scholar 

Frenkel M, Meyer EJ, Stadler JA 3rd (2020) Intrathecal baclofen for hypertonia secondary to glutaric aciduria type I. Cureus 12:e8818

PubMed  PubMed Central  Google Scholar 

Garbade SF, Greenberg CR, Demirkol M, Gökçay G, Ribes A, Campistol J, Burlina AB, Burgard P, Kölker S (2014) Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients. J Inherit Metab Dis 37:763–773

Article  CAS  PubMed  Google Scholar 

Ghatan S, Kokoszka MA, Ranney AM, Strauss KA (2016) Intraventricular baclofen for treatment of severe dystonia associated with glutaryl-CoA dehydrogenase deficiency (GA1): report of two cases. Mov Disord Clin Pract 3:296–299

Article  PubMed  PubMed Central  Google Scholar 

Gimeno H, Tustin K, Lumsden D, Ashkan K, Selway R, Lin JP (2014) Evaluation of functional goal outcomes using the Canadian Occupational Performance Measure (COPM) following deep brain stimulation (DBS) in childhood dystonia. Eur J Paediatr Neurol 18:308–316

Article  PubMed  Google Scholar 

Gimeno H, Tustin K, Selway R, Lin JP (2012) Beyond the Burke-Fahn-Marsden Dystonia Rating Scale: deep brain stimulation in childhood secondary dystonia. Eur J Paediatr Neurol 16:501–508

Article  PubMed  Google Scholar 

British Inherited Metabolic Disease Group Guidelines - Glutaric aciduria type 1—acute decompensation. https://bimdg.org.uk/wp-content/uploads/2024/11/ER-GA1-v4_549337_05042017.pdf Accessed 2 Jan 2025

Guenzel AJ, Hall PL, Scott AI, Lam C, Chang IJ, Thies J, Ferreira CR, Pichurin P, Laxen W, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Matern D, Tortorelli S (2021) The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses. JIMD Rep 60:67–74

PubMed  PubMed Central  Google Scholar 

Healy L, O’Shea M, McNulty J, King G, Twomey E, Treacy E, Crushell E, Hughes J, Knerr I, Monavari AA (2022) Glutaric aciduria type 1: diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients. JIMD Rep 63:379–387

PubMed  PubMed Central  Google Scholar 

Hwang H-SS, Salles AD (2005) Bilateral pallidotomy for dystonia with glutaric aciduria type 1. J Korean Neurosurg Soc 38:380–383

Google Scholar 

Kaminska M, Perides S, Lumsden DE, Nakou V, Selway R, Ashkan K, Lin JP (2017) 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 21:168–175

Article  PubMed  Google Scholar 

Kolker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, Garcia Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Muhlhausen C, Muller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P (2011) Diagnosis and management of glutaric aciduria type I—revised recommendations. J Inherit Metab Dis 34:677–694

Article  PubMed  PubMed Central  Google Scholar 

Kolker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Marti-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF (2006) Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. PediatrRes 59:840–847

Google Scholar 

Law M, Baptiste S, McColl M, Opzoomer A, Polatajko H, Pollock N (1990) The Canadian occupational performance measure: an outcome measure for occupational therapy. Can J Occup Ther 57:82–87

Article  CAS  PubMed  Google Scholar 

Law M, Baptiste S, McColl MA, Opzoomer A, Polatajko H, Pollock N (2014) Canadian occupational performance measure. CAOT Publications ACE, Toronto

Google Scholar 

Lin JP, Lumsden DE, Gimeno H, Kaminska M (2014) The impact and prognosis for dystonia in childhood including dystonic cerebral palsy: a clinical and demographic tertiary cohort study. J Neurol Neurosurg Psychiatry 85:1239–1244

Article  PubMed  Google Scholar 

Lipsman N, Ellis M, Lozano AM (2010) Current and future indications for deep brain stimulation in pediatric populations. Neurosurg Focus 29:E2

Article  PubMed  Google Scholar 

Lumsden DE, Gimeno H, Tustin K, Kaminska M, Lin JP (2015) Interventional studies in childhood dystonia do not address the concerns of children and their carers. Eur J Paediatr Neurol 19:327–336

Article  PubMed  Google Scholar 

Lumsden DE, Kaminska M, Gimeno H, Tustin K, Baker L, Perides S, Ashkan K, Selway R, Lin JP (2013) 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 55:567–574

Article  PubMed  Google Scholar 

Lumsden DE, Kaminska M, Tomlin S, Lin JP (2016) Medication use in childhood dystonia. Eur J Paediatr Neurol 20:625–629

Article  PubMed  Google Scholar 

MacLean JA, Nataraj J, Davies J, Zakharova A, Kurtz J, Liker MA, Olaya J, Sanger TD (2023) Novel utilization of deep brain stimulation in the pedunculopontine nucleus with globus pallidus internus for treatment of childhood-onset dystonia. Front Hum Neurosci 17:1270430

Article  PubMed  PubMed Central