Risk factors for psychiatric and behavioural adverse events associated with antiepileptic drugs in adolescents and children
Chen et al.,1 in this issue, have reported the results of a retrospective, electronic case review study of the psychiatric and behavioural adverse events (which the authors refer to as psychiatric and behavioural side effects: PBSEs) associated with antiepileptic drugs (AEDs) in children and adolescents under 18 years of age. The results they obtained are of considerable interest because this was a large (n = 922) study and provides numerical data together with several statistically significant associations indicating possible risk factors.
Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration
We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially recognized as seizure since they were not associated with any abnormal movement and since interictal EEG was normal. Recording of attacks using prolonged video-EEG recording allowed to confirm the diagnosis of epileptic seizures.
Fetal akinesia deformation sequence (FADS) or arthrogryposis multiplex congenita (AMC) is characterized by clinical ambiguity and genetic heterogeneity, hampering genetic diagnosis via traditional sequencing methods. Next generation sequencing (NGS) of all known disease-causing genes offers an elegant solution to identify the genetic etiology of AMC/FADS in a diagnostic setting.
Juvenile myasthenia gravis in Norway: Clinical characteristics, treatment, and long-term outcome in a nationwide population-based cohort
This study aimed to characterize juvenile myasthenia gravis in a national population-based cohort in Norway, and to evaluate long-term outcome and potential differences correlated with prepubertal versus postpubertal disease onset.
Leigh-like neuroimaging features associated with new biallelic mutations in OPA1
Behr syndrome is characterized by the association of early onset optic atrophy, cerebellar ataxia, pyramidal signs, peripheral neuropathy and mental retardation. Recently, some cases were reported to be caused by biallelic mutations in OPA1.We describe an 11-year-old girl (Pt1) and a 7-year-old boy (Pt2) with cognitive delay, ataxic gait and clinical signs suggestive of a peripheral neuropathy, with onset in early infancy. In Pt1 ocular fundus examination revealed optic disk pallor whereas Pt2 exhibited severe optic atrophy.
Validated age-specific reference values for CSF total protein levels in children
To define age-specific reference values for cerebrospinal fluid (CSF) total protein levels for children and validate these values in children with Guillain-Barré syndrome (GBS), acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS).