Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders presenting with Dystonia: Current Practice illustrated by Two Cases

INTRODUCTION: Dystonia 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 may cause adverse effects. Deep brain stimulation (DBS) appears to be a valid therapeutic option for pharmacoresistant dystonia in children. METHODS: To 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. RESULTS: The first patient, a six-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 eight-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 literature. CONCLUSION: DBS 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

Intrathecal baclofen treatment in dystonic cerebral palsy: a randomized clinical trial: the IDYS trial

BACKGROUND: Dystonic cerebral palsy is primarily caused by damage to the basal ganglia and central cortex. The daily care of these patients can be difficult due to dystonic movements. Intrathecal baclofen treatment is a potential treatment option for dystonia and has become common practice. Despite this widespread adoption, high quality evidence on the effects of intrathecal baclofen treatment on daily activities is lacking and prospective data are needed to judge the usefulness and indications for dystonic cerebral palsy. The primary aim of this study is to provide level one clinical evidence for the effects of intrathecal baclofen treatment on the level of activities and participation in dystonic cerebral palsy patients. Furthermore, we hope to identify clinical characteristics that will predict a beneficial effect of intrathecal baclofen in an individual patient. METHODS/DESIGN: A double blind placebo-controlled multi-center randomized clinical trial will be performed in 30 children with dystonic cerebral palsy. Patients aged between 4 and 25 years old with a confirmed diagnosis of dystonic cerebral palsy, Gross Motor Functioning Classification System level IV or V, with lesions in the cerebral white matter, basal ganglia or central cortex and who are eligible for intrathecal baclofen treatment will be included. Group A will receive three months of continuous intrathecal baclofen treatment and group B will receive three months of placebo treatment, both via an implanted pump. After this three month period, all patients will receive intrathecal baclofen treatment, with a follow-up after nine months. The primary outcome measurement will be the effect on activities of and participation in daily life measured by Goal Attainment Scaling. Secondary outcome measurements on the level of body functions include dystonia, spasticity, pain, comfort and sleep-related breathing disorders. Side effects will be monitored and we will study whether patient characteristics influence outcome. DISCUSSION: The results of this study will provide data for evidence-based use of intrathecal baclofen in dystonic cerebral palsy. TRIAL REGISTRATION: Nederlands Trial Register, NTR364

The Effect of Intrathecal Baclofen in Dyskinetic Cerebral Palsy:The IDYS Trial

Objective Intrathecal baclofen treatment is used for the treatment of dystonia in patients with severe dyskinetic cerebral palsy; however, the current level of evidence for the effect is low. The primary aim of this study was to provide evidence for the effect of intrathecal baclofen treatment on individual goals in patients with severe dyskinetic cerebral palsy. Methods This multicenter, randomized, double-blind, placebo-controlled trial was performed at 2 university medical centers in the Netherlands. Patients with severe dyskinetic cerebral palsy (Gross Motor Functioning Classification System level IV-V) aged 4 to 24 years who were eligible for intrathecal baclofen were included. Patients were assigned by block randomization (2:2) for treatment with intrathecal baclofen or placebo for 3 months via an implanted microinfusion pump. The primary outcome was goal attainment scaling of individual treatment goals (GAS T score). A linear regression model was used for statistical analysis with study site as a covariate. Safety analyses were done for number and type of (serious) adverse events. Results Thirty-six patients were recruited from January 1, 2013, to March 31, 2018. Data for final analysis were available for 17 patients in the intrathecal baclofen group and 16 in the placebo group. Mean (standard deviation) GAS T score at 3 months was 38.9 (13.2) for intrathecal baclofen and 21.0 (4.6) for placebo (regression coefficient = 17.8, 95% confidence interval = 10.4-25.0, p <0.001). Number and types of (serious) adverse events were similar between groups. Interpretation Intrathecal baclofen treatment is superior to placebo in achieving treatment goals in patients with severe dyskinetic cerebral palsy. ANN NEUROL 201

Electronic monitoring in fisheries: Lessons from global experiences and future opportunities

Since the beginning of the 21st century, electronic monitoring (EM) has emerged as a cost‐efficient supplement to existing catch monitoring programmes in fisheries. An EM system consists of various activity sensors and cameras positioned on vessels to remotely record fishing activity and catches. The first objective of this review was to describe the state of play of EM in fisheries worldwide and to present the insights gained on this technology based on 100 EM trials and 12 fully implemented programmes. Despite its advantages, and its global use for monitoring, progresses in implementation in some important fishing regions are slow. Within this context, the second objective was to discuss more specifically the European experiences gained through 16 trials. Findings show that the three major benefits of EM were as follows: (a) cost‐efficiency, (b) the potential to provide more representative coverage of the fleet than any observer programme and (c) the enhanced registration of fishing activity and location. Electronic monitoring can incentivize better compliance and discard reduction, but the fishing managers and industry are often reluctant to its uptake. Improved understanding of the fisher's concerns, for example intrusion of privacy, liability and costs, and better exploration of EM benefits, for example increased traceability, sustainability claims and market access, may enhance implementation on a larger scale. In conclusion, EM as a monitoring tool embodies various solid strengths that are not diminished by its weaknesses. Electronic monitoring has the opportunity to be a powerful tool in the future monitoring of fisheries, particularly when integrated within existing monitoring programmes