Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results

Candela, Santiago; Vanegas, Maria; Darling, Alejandra; Ortigoza‐Escobar, Juan Darío; Alamar, Mariana; Muchart, Jordi; Climent, Alejandra; Ferrer, Enrique; Rumià, Jordi; Pérez‐Dueñas, Belén

doi:10.3171/2018.5.peds1814

Cited by 29 publications

(29 citation statements)

References 44 publications

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“…Chronic deep brain stimulation (DBS) of the internal globus pallidus has been reported to be beneficial in patients with dystonia refractory to medication used for movement disorders [ 14 , 15 ]. Nevertheless, DBS performed in the patient reported by Salpietro et al showed improvement in the first weeks after chronic stimulation but followed by a very little improvement of PD without functional amelioration [ 16 ]. These data indicate that a better understanding of the PDE2A variants consequences on basal ganglia and connected brain structures is needed to adapt DBS therapeutic approach to PDE2A -related disorders [ 17 – 19 ].…”

Section: Discussionmentioning

confidence: 99%

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Doummar

Dentel²,

Lyautey

et al. 2020

Eur J Hum Genet

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Cause of complex dyskinesia remains elusive in some patients. A homozygous missense variant leading to drastic decrease of PDE2A enzymatic activity was reported in one patient with childhood-onset choreodystonia preceded by paroxysmal dyskinesia and associated with cognitive impairment and interictal EEG abnormalities. Here, we report three new cases with biallelic PDE2A variants identified by trio whole-exome sequencing. Mitochondria network was analyzed after Mitotracker™ Red staining in control and mutated primary fibroblasts. Analysis of retrospective video of patients’ movement disorder and refinement of phenotype was carried out. We identified a homozygous gain of stop codon variant c.1180C>T; p.(Gln394*) in PDE2A in siblings and compound heterozygous variants in young adult: a missense c.446C>T; p.(Pro149Leu) and splice-site variant c.1922+5G>A predicted and shown to produce an out of frame transcript lacking exon 22. All three patients had cognitive impairment or developmental delay. The phenotype of the two oldest patients, aged 9 and 26, was characterized by childhood-onset refractory paroxysmal dyskinesia initially misdiagnosed as epilepsy due to interictal EEG abnormalities. The youngest patient showed a proven epilepsy at the age of 4 months and no paroxysmal dyskinesia at 15 months. Interestingly, analysis of the fibroblasts with the biallelic variants in PDE2A variants revealed mitochondria network morphology changes. Together with previously reported case, our three patients confirm that biallelic PDE2A variants are a cause of childhood-onset refractory paroxysmal dyskinesia with cognitive impairment, sometimes associated with choreodystonia and interictal baseline EEG abnormalities or epilepsy.

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Section: Discussionmentioning

confidence: 99%

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Doummar

Dentel²,

Lyautey

et al. 2020

Eur J Hum Genet

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“…MRI‐compatible frame systems allow confirmation of the electrode position in the MRI suite. Frameless systems use a rigid preconstructed guide holder that attaches directly to the patient, a motion capture system that provides information to the surgeon who can adjust the entry point and angle, or a robot that places the guide holder in the desired position relative to the patient's head …”

Section: Surgical Proceduresmentioning

confidence: 99%

“…Frameless systems use a rigid preconstructed guide holder that attaches directly to the patient, a motion capture system that provides information to the surgeon who can adjust the entry point and angle, or a robot that places the guide holder in the desired position relative to the patient's head. 40 Radiological confirmation of the correct target and trajectory can be done with intraoperative MRI, 41 intraoperative computed tomography (CT), or an X-ray showing the relation of the electrode tip to the frame. 37 Physiological confirmation of the correct target can be done with microelectrode recording, which may show responses to passive or active movement within the GPi.…”

Section: Surgical Proceduresmentioning

confidence: 99%

Deep brain stimulation for cerebral palsy: where are we now?

Sanger

2019

Develop Med Child Neuro

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DBS Deep brain stimulation GPiInternal globus pallidusCerebral palsy (CP) is a complex disorder and children frequently have multiple impairments. Dystonia is a particularly frustrating impairment that interferes with rehabilitation and function and is difficult to treat. Of the available treatments, deep brain stimulation (DBS) has emerged as an option with the potential for large effect size in a subgroup of children. While brain stimulation has been used in CP for more than 40 years, modern devices and targeting methods are improving both the safety and efficacy of the procedure. Successful use of DBS depends on appropriate selection of patients, identification of effective neuroanatomical targets in each patient, careful neurosurgical procedure, and detailed follow-up evaluation and programming. The use of functional neurosurgery for neuromodulation in CP remains a technology in its infancy, but improving experience and knowledge are likely to make this one of the safest and most effective interventions for children with moderate-to-severe motor disorders. This review summarizes the current procedures for patient and target selection, and surgical implantation of DBS electrodes for CP. The history of DBS and future directions when used in secondary dystonia are also examined.

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“…More recently, operative robotic systems for neurosurgical procedures have been increasingly adopted in the United States following the demonstration of their utility in Europe (17)(18)(19)(20)(21)(22). Benabid et al initially described a computer-driven technique for stereotaxy connected to CT and MR imaging in 1987 (5).…”

Section: Introductionmentioning

confidence: 99%

Contributions of Robotics to the Safety and Efficacy of Invasive Monitoring With Stereoelectroencephalography

2020

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The purpose of this review is to provide a discussion of the history and utility of robotics in invasive monitoring for epilepsy surgery using stereoelectroencephalography (sEEG). The authors conducted a literature review of available sources to describe how the advent of surgical robotics has improved the efficacy and ease of performing sEEG surgery. The sEEG method integrates anatomic, electrographic, and clinical information to test hypotheses regarding the localization of the epileptogenic zone (EZ) and has been used in Europe since the 1950s. One of the primary benefits of robot-assisted sEEG implantation techniques is the ability to seamlessly transition between both orthogonal and oblique trajectory types using a single technique. Based on available information, it is our view that, when applied appropriately, robotic sEEG can have a low rate of complications and many advantages over both non-robotic sEEG implantation and traditional craniotomy-based invasive monitoring methods.

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Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results

Cited by 29 publications

References 44 publications

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Deep brain stimulation for cerebral palsy: where are we now?

Contributions of Robotics to the Safety and Efficacy of Invasive Monitoring With Stereoelectroencephalography

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