Search

Introduction: Children with focal epilepsy often present with executive functions (EFs) deficits. EFs deficits can contribute to adaptive challenges and have a negative impact on academic achievement. The purpose of this study was to investigate the EFs profiles of children diagnosed with frontal lobe epilepsy or temporal lobe epilepsy. Also, we aimed to examine the impact of medical and sociodemographic features on executive functioning and to compare the results of performance-based tests and ratings measures., Method: EFs were assessed using performance based-tests and rating scales. The Child Executive Functions Battery (CEF-B) and the Behavior Rating Inventory of Executive Function (BRIEF) for parents and teachers were used., Results: Fifty children aged 6-16 years participated in the study, 28 diagnosed with frontal lobe epilepsy and 22 diagnosed with temporal lobe epilepsy. Results showed that approximately 30 % of both groups of epilepsy patients had significant deficits in EFs compared to normative data. Deficits were observed across various domains of EFs (inhibition, working memory, flexibility and planning). Most patients exhibited deficits in one or two of the 4 domains. Worse executive performances were significantly associated with older age at assessment time, longer duration of epilepsy, higher seizure frequency, earlier age at onset and higher number of anti-seizure medication. Additionally, correlation and congruence analyses showed significant discrepancies between the performance-based and rating measures of executive functioning., Conclusion: Our findings provide substantial evidence of significant executive deficits in children with FLE and TLE and support the clinical validity of the CEF-B battery in this population. The low level of agreement between performance tests and daily life questionnaires suggests that the two methods are complementary for understanding children's executive functioning. Comprehensive assessment and targeted interventions to address EFs difficulties are recommended for this particular population., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Background: Genetic epilepsy diagnosis is increasing due to technological advancements. Although the use of molecular diagnosis is increasing, chromosomal microarray analysis (CMA) remains an important diagnostic tool for many patients. We aim to explore the role and indications of CMA in epilepsy, given the current genomic advances., Methods: We obtained data from 378 epileptic described patients, who underwent CMA between 2015 and 2021. Different types of syndromic or nonsyndromic epilepsy were represented., Results: After excluding patients who were undertreated or had missing data, we included 250 patients with treated epilepsy and relevant clinical information. These patients mostly had focal epilepsy or developmental and epileptic encephalopathy, with a median start age of 2 years. Ninety percent of the patients had intellectual disability, more than two thirds had normal head size, and 60% had an abnormal magnetic resonance imaging. We also included 10 patients with epilepsy without comorbidities. In our cohort, we identified 35 pathogenic copy number variations (CNVs) explaining epilepsy with nine recurrent CNVs enriched in patients with epilepsy, 12 CNVs related to neurodevelopmental disorder phenotype with possible epilepsy, five CNVs including a gene already known in epilepsy, and nine CNVs based on size combined with de novo occurrence. The diagnosis rate in our study reached 14% (35 of 250) with first-line CMA, as previously reported. Although targeted gene panel sequencing could potentially diagnose some of the reported epilepsy CNVs (34% [12 of 35])., Conclusions: CMA remains a viable option as the first-line genetic test in cases where other genetic tests are not available and as a second-line diagnostic technique if gene panel or exome sequencing yields negative results., Competing Interests: Declaration of competing interest None of the authors have any conflicts of interest related to this study to declare., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Objective . Advancements in data science and assistive technologies have made invasive brain-computer interfaces (iBCIs) increasingly viable for enhancing the quality of life in physically disabled individuals. Intracortical microelectrode implants are a common choice for such a communication system due to their fine temporal and spatial resolution. The small size of these implants makes the implantation plan critical for the successful exfiltration of information, particularly when targeting representations of task goals that lack robust anatomical correlates. Approach . Working memory processes including encoding, retrieval, and maintenance are observed in many areas of the brain. Using human electrocorticography (ECoG) recordings during a working memory experiment, we provide proof that it is possible to localize cognitive activity associated with the task and to identify key locations involved with executive memory functions. Results. From the analysis, we could propose an optimal iBCI implant location with the desired features. The general approach is not limited to working memory but could also be used to map other goal-encoding factors such as movement intentions, decision-making, and visual-spatial attention. Significance . Deciphering the intended action of a BCI user is a complex challenge that involves the extraction and integration of cognitive factors such as movement planning, working memory, visual-spatial attention, and the decision state. Examining field potentials from ECoG electrodes while participants engaged in tailored cognitive tasks can pinpoint location with valuable information related to anticipated actions. This manuscript demonstrates the feasibility of identifying electrodes involved in cognitive activity related to working memory during user engagement in the NBack task. Devoting time in meticulous preparation to identify the optimal brain regions for BCI implant locations will increase the likelihood of rich signal outcomes, thereby improving the overall BCI user experience., (Creative Commons Attribution license.)

Aims: Sweet's syndrome is an acute febrile neutrophilic dermatosis first described in 1964 by Robert Douglas Sweet. The pathophysiological mechanism is not fully established; however, several cases of Sweet's syndrome have been reported following drug administration., Methods: To investigate the existence of pharmacovigilance signals between drugs and the occurrence of Sweet's syndrome, we performed a case/non-case study on reports of 'acute febrile neutrophilic dermatosis' registered in the French pharmacovigilance database. Reporting odds ratio (ROR) with its 95% confidence interval were calculated., Results: Amongthe 994 789 reports recorded in the database, 136 were Sweet's syndrome, of which 50.7% were men and the median age was 59 years (range 15-91). A total of 224 drugs were mentioned as suspects: 21.0% were antibacterials, 19.2% were antineoplastics and 12.1% were immunosuppressants. Median time to onset from drug initiation to the development of Sweet's syndrome was 15 days (range 1-1095). The highest RORs were observed with bortezomib (74.04 [40.8-134.2]), azacitidine (72.14 [29.4-176.9]), perfilgrastim (67.05 [21.2-211.6]), azathioprine (55.46 [34.8-88.4]) and bendamustine (35.84 [11.4-112.8])., Conclusions: Pharmacovigilance signals have been observed between the occurrence of Sweet's syndrome and colony-stimulating factors, immunosuppressants, antineoplastics and antibiotics. Clinicians should be aware of the potential associations with these drugs and should be encouraged to report any case of drug-induced Sweet's syndrome., (© 2023 The Authors. British Journal of Clinical Pharmacology published by John Wiley & Sons Ltd on behalf of British Pharmacological Society.)

Background: Although the group of paroxysmal kinesigenic dyskinesia (PKD) genes is expanding, the molecular cause remains elusive in more than 50% of cases., Objective: The aim is to identify the missing genetic causes of PKD., Methods: Phenotypic characterization, whole exome sequencing and association test were performed among 53 PKD cases., Results: We identified four causative variants in KCNJ10, already associated with EAST syndrome (epilepsy, cerebellar ataxia, sensorineural hearing impairment and renal tubulopathy). Homozygous p.(Ile209Thr) variant was found in two brothers from a single autosomal recessive PKD family, whereas heterozygous p.(Cys294Tyr) and p.(Thr178Ile) variants were found in six patients from two autosomal dominant PKD families. Heterozygous p.(Arg180His) variant was identified in one additional sporadic PKD case. Compared to the Genome Aggregation Database v2.1.1, our PKD cohort was significantly enriched in both rare heterozygous (odds ratio, 21.6; P = 9.7 × 10 -8 ) and rare homozygous (odds ratio, 2047; P = 1.65 × 10 -6 ) missense variants in KCNJ10., Conclusions: We demonstrated that both rare monoallelic and biallelic missense variants in KCNJ10 are associated with PKD. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)

Aim: The objective of this study is to evaluate the benefit of selective dorsal rhizotomy on the quality of life of patients with severe spasticity with significant impairment of gross motor functions (GMFCS stages IV and V) according to 4 items: pain, nursing care, positioning, and dressing., Materials and Methods: We conducted a monocentric retrospective cohort study including patients who underwent selective dorsal rhizotomy between March 2008 and May 2022 at the University Hospital of Marseille., Results: Seventy percent of patients showed an improvement in quality of life criteria: dressing, nursing, positioning, and pain at the last follow-up. A small proportion of patients still showed a worsening between the first 2 follow-ups and the last follow-up. Postoperatively, 27.3% of patients were free of joint spasticity treatment, and we have shown that there was a significant decrease in the number of children who received botulinum toxin postoperatively. However, there was no significant reduction in the number of drug treatments or orthopaedic procedures following RDS. For the CPCHILD © scores, an overall gain is reported for GMFCS IV and V patients in postoperative care. The gain of points is more important for GMFCS IV patients. Improvement was mainly observed in 2 domains, "comfort and emotions" and "hygiene and dressing". For the "quality of life" item, only 3 parents out of the 8 noted a positive change., Conclusion: Our study shows an improvement in nursing care, positioning, and dressing which are associated with a reduction in pain in children with a major polyhandicap GMFCS IV and V who have benefited from a selective dorsal rhizotomy., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Objective: This systematic review is conducted to identify, compare, and analyze neurophysiological feature selection, extraction, and classification to provide a comprehensive reference on neurophysiology-based subthalamic nucleus (STN) localization., Materials and Methods: The review was carried out using the methods and guidelines of the Kitchenham systematic review and provides an in-depth analysis on methods proposed on STN localization discussed in the literature between 2000 and 2021. Three research questions were formulated, and 115 publications were identified to answer the questions., Results: The three research questions formulated are answered using the literature found on the respective topics. This review discussed the technologies used in past research, and the performance of the state-of-the-art techniques is also reviewed., Conclusion: This systematic review provides a comprehensive reference on neurophysiology-based STN localization by reviewing the research questions other new researchers may also have., Competing Interests: Conflict of Interest The authors reported no conflict of interest., (Copyright © 2023 International Neuromodulation Society. Published by Elsevier Inc. All rights reserved.)

The clinical effects of a serious game with electromyography feedback (EMGs_SG) and physical therapy (PT) was investigated prospectively in children with unilateral spastic cerebral palsy (USCP). An additional aim was to better understand the influence of muscle shortening on function. Thirty children with USCP (age 7.6 ± 2.1 years) received four weeks of EMGs_SG sessions 2×/week including repetitive, active alternating training of dorsi- and plantar flexors in a seated position. In addition, each child received usual PT treatment ≤ 2×/week, involving plantar flexor stretching and command strengthening on dorsi- and plantar flexors. Five-Step Assessment parameters, including preferred gait velocity (normalized by height); plantar flexor extensibility (XV1); angle of catch (XV3); maximal active ankle dorsiflexion (XA); and derived coefficients of shortening, spasticity, and weakness for both soleus and gastrosoleus complex (GSC) were compared pre and post treatment ( t -tests). Correlations were explored between the various coefficients and gait velocities at baseline. After four weeks of EMGs_SG + PT, there was an increase in normalized gait velocity from 0.72 ± 0.13 to 0.77 ± 0.13 m/s ( p = 0.025, d = 0.43), a decrease in coefficients of shortening (soleus, 0.10 ± 0.07 pre vs. 0.07 ± 0.08 post, p = 0.004, d = 0.57; GSC 0.16 ± 0.08 vs. 0.13 ± 0.08, p = 0.003, d = 0.58), spasticity (soleus 0.14 ± 0.06 vs. 0.12 ± 0.07, p = 0.02, d = 0.46), and weakness (soleus 0.14 ± 0.07 vs. 0.11 ± 0.07, p = 0.005, d = 0.55). At baseline, normalized gait velocity correlated with the coefficient of GSC shortening (R = -0.43, p = 0.02). Four weeks of EMGs_SG and PT were associated with improved gait velocity and decreased plantar flexor shortening. A randomized controlled trial comparing EMGs_SG and conventional PT is needed.

As part of the COVID-19 vaccination campaign, the National Agency for the Safety of Medicines and Health Products and all 31 regional pharmacovigilance centers were mobilized in an exceptional reinforced vaccine pharmacovigilance surveillance system. Concerning adenovirus vaccines, Vaxzévria® and Jcovden®, this national system, based on the daily analysis of notified cases of adverse events, has allowed the early identification of safety signals, some of which have been validated, others still under analysis, common to mRNA vaccines or more specific of adenovirus vaccines such as Vaccine Induced Immune Thrombocytopenia. Complementing european and international actions, this follow-up has contributed to a better definition of the safety profile of these vaccines and has led to redefine the vaccine strategy in our country. Although today these two vaccines have no longer place in the national vaccine strategy, they are still used in other countries, where the experience acquired could be useful and will contribute to fuel the reflection on future therapies involving viral vectors., (Copyright © 2023 Société française de pharmacologie et de thérapeutique. Published by Elsevier Masson SAS. All rights reserved.)

Background and Purpose: Cerebral hypoperfusion has been reported in patients with COVID-19 and neurological manifestations in small cohorts. We aimed to systematically assess changes in cerebral perfusion in a cohort of 59 of these patients, with or without abnormalities on morphological MRI sequences., Methods: Patients with biologically-confirmed COVID-19 and neurological manifestations undergoing a brain MRI with technically adequate arterial spin labeling (ASL) perfusion were included in this retrospective multicenter study. ASL maps were jointly reviewed by two readers blinded to clinical data. They assessed abnormal perfusion in four regions of interest in each brain hemisphere: frontal lobe, parietal lobe, posterior temporal lobe, and temporal pole extended to the amygdalo-hippocampal complex., Results: Fifty-nine patients (44 men (75%), mean age 61.2 years) were included. Most patients had a severe COVID-19, 57 (97%) needed oxygen therapy and 43 (73%) were hospitalized in intensive care unit at the time of MRI. Morphological brain MRI was abnormal in 44 (75%) patients. ASL perfusion was abnormal in 53 (90%) patients, and particularly in all patients with normal morphological MRI. Hypoperfusion occurred in 48 (81%) patients, mostly in temporal poles (52 (44%)) and frontal lobes (40 (34%)). Hyperperfusion occurred in 9 (15%) patients and was closely associated with post-contrast FLAIR leptomeningeal enhancement (100% [66.4%-100%] of hyperperfusion with enhancement versus 28.6% [16.6%-43.2%] without, p = 0.002). Studied clinical parameters (especially sedation) and other morphological MRI anomalies had no significant impact on perfusion anomalies., Conclusion: Brain ASL perfusion showed hypoperfusion in more than 80% of patients with severe COVID-19, with or without visible lesion on conventional MRI abnormalities., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)