Feasibility and usefulness of rapid 2-channel-EEG-monitoring (point-of-care EEG) for acute CNS disorders in the paediatric emergency department: an observational study

IntroductionThe aim of this study was to determine the feasibility and clinical utility of point-of-care electroencephalogram (pocEEG) in the paediatric emergency department (ED) for children presenting with acute non-traumatic central nervous system (CNS) disorders.MethodsRetrospective observational study of prospectively collected data in paediatric patients (0–16 years) with acute non-traumatic CNS-disorders presenting between April 2014 and February 2017 to a single paediatric ED in Switzerland.The 2-channel EEG was applied to all patients presenting with acute seizures or impaired consciousness to the ED. For a pocEEG, scalp surface electrodes are applied in five locations, thus allowing registration of fronto-temporal bilateral cortical activity. Neurology consultants assisted with interpretation of readings. EEG findings and clinical characteristics were collected. Feasibility and usefulness were rated via Likert scale.Results36 patients with acute seizures or altered mental status were analysed. Age range was 9 months to 15 years, median age of 34 months. 21 of 36 (58%) patients arrived out of hours. Application of electrodes was rated as ‘easy’ in 28 (77.8%) patients and rated as ‘difficult’ in 8 (22.2%). The utility of the EEG was rated by physicians as ‘very useful/diagnostic’ in 13 cases (36%), ‘useful’ in 21 cases (58%), ‘not useful’ in two cases (8%). None were rated ‘negative.’ConclusionUptake of pocEEG introduction has been very encouraging. Provider ratings were overwhelmingly positive. Recognition of non-convulsive status epilepticus was improved and pocEEG facilitated more targeted interventions

Cognitive impairment and cortical reorganization in children with benign epilepsy with centrotemporal spikes

Benign epilepsy with centrotemporal spikes (BECTS) is associated with mild cognitive deficits, especially language impairment. This study aimed to clarify whether children with BECTS with left- or right-hemispheric, or bilateral focus have specific neuropsychological language deficits when compared to healthy controls, whether these deficits correlate functionally with language network organization (typical vs. atypical), and whether cofactors such as duration, handedness, and medication have a relevant impact on language reorganization processes

Management of Acute Demyelinating Attacks in the Pediatric Population: A Swiss Consensus Statement.

Abstract: Background and methods: Acquired demyelinating syndromes (ADS) encompass distinct entities and occur in approximately 1/100,000 children. While the use of high dose intravenous corticosteroids is well-established, agreement on steroid taper and type of second line therapy is lacking. A comprehensive, unified and standardized treatment approach is crucial in the management of patients with rare diseases. Therefore, this study performed from July 2018 to June 2020 aimed at developing a national consensus on the management of ADS in the pediatric population using the Delphi approach. Consensus was defined as agreement in >75%. Designated Neuropediatricians with an expertise in the management of pediatric neuroinflammatory diseases in all university and cantonal hospitals of Switzerland were included. The response rate was 100%. Results: High-dose i.v. methylprednisolone (20–30 mg/kg/die for 5 days) is the first line treatment irrespective of the distinct entity of the ADS. An oral steroid taper is recommended in acute demyelinating encephalomyelitis (ADEM) and in neuromyelitis optica spectrum disorder (NMO-SD). However, in the latter more in the sense of bridging. The choice of second line treatment depends on the entity of ADS: in optic neuritis (ON) and ADS due to relapsing remitting multiple sclerosis, first line treatment should be repeated, whereas plasma exchange is recommended in NMO-SD, ADEM and transverse myelitis. Conclusions: A national guideline allowing for a more unified approach in the management of pediatric ADS will enhance future research in this field, making data more comparable. The definition of inadequate treatment response to first line therapy remains a challenge and requires future research

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families

Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the GCDH gene encoding glutaryl-CoA-dehydrogenase. Newborn screening (NBS) for this condition is based on elevated levels of glutarylcarnitine (C5DC) in dried blood spots (DBS). Here we report four cases from three families in whom a correctly performed NBS did not detect the condition. Glutarylcarnitine concentrations were either normal (slightly below) or slightly above the cut-off. Ratios to other acylcarnitines were also not persistently elevated. Therefore, three cases were defined as screen negative, and one case was defined as normal, after a normal control DBS sample. One patient was diagnosed after an acute encephalopathic crisis, and the other three patients had an insidious onset of the disease. GA-1 was genetically confirmed in all cases. Despite extensive efforts to increase sensitivity and specificity of NBS for GA-1, by adjusting cut-offs and introducing various ratios, the biological diversity still leads to false-negative NBS results for GA-1

Correction: Spenger et al. Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families. Int. J. Neonatal Screen. 2021, 7, 32

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