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Introduction: SARS-CoV-2 infection in children is usually asymptomatic or only mild symptoms are typical. The aim of our study was to assess the incidence of febrile convulsions in our own patients with COVID-19. Patients and Methods: In our retrospective study, we reviewed the data of children who presented at our University Hospital from March 2020 to March 2022 with febrile convulsion. The control group were children admitted to the hospital because of febrile convulsions from January 2018 to January 2020. Results: During the coronavirus pandemic, 51 patients were examined with febrile convulsions. The majority (86.3%) of children had their first febrile convulsion during this period. We diagnosed simple febrile convulsions in 40 cases and complicated ones in 11 cases. The family history of febrile convulsion or epilepsy was present in 12 (23.5%) patients. In addition to febrile convulsion, SARS-CoV-2 infection was confirmed by laboratory testing in 4 cases (7.8%). Three of them had febrile convulsion during the Omicron variant period. Conclusions: During the coronavirus pandemic, the number of children examined because of having febrile convulsions was not higher than in the control period. The coronavirus is unlikely to increase the risk of febrile convulsions. [ABSTRACT FROM AUTHOR]

Aim: This paper introduces the Surveillance of Cerebral Palsy in Europe (SCPE) classification of events contributing to postneonatally acquired cerebral palsy, presents its interrater reliability, and describes the cases identified in the SCPE database. Method: The development of the classification, based on literature review and expert discussions, resulted in six main categories and 19 subcategories. The first chronological event designated as the primary event was mainly reported. Interrater reliability was assessed through online exercise providing 24 clinical vignettes representing single/complex pathways. Percent agreement and Gwet's AC1 index of reliability were estimated. Primary events were described using data of 221 children born between 2008 and 2012. Results: Thirty‐nine professionals (21 registries) participated in the reliability exercise. Substantial overall agreement was reached (0.75), with some contrast between complex (0.48, moderate agreement) and single events involved (0.89, almost perfect). The distribution of primary events showed that 32.1% were infections (category A), 23.1% head injuries (B), 15.4% related to surgery or medical interventions (C), 13.1% cerebrovascular accidents (D), 9.1% hypoxic brain damaging events of other origins (E), and 7.2% miscellaneous (F). Interpretation: This classification allows all the events involved to be recorded while consistently reporting the primary event, and may be used in different settings. What this paper adds: A standardized classification enables the description of the events contributing to postneonatal cerebral palsy (CP).The first chronological event in complex pathway leading to CP is coded.Category choice and coding of the primary event identify preventable situations.The detailed 2‐level classification is easy to use in various settings.Substantial overall interrater reliability shows that main categories can be consistently differentiated. [ABSTRACT FROM AUTHOR]

The present paper aims to analyze trends over time in prevalence of cerebral palsy of post-neonatal origin, to investigate whether changes are similar according to severity and to describe the disability profile by etiology. Post-neonatal cases, birth years 1976 to 1998, were identified from the Surveillance of Cerebral Palsy in Europe collaboration (19 population-based registries). A recognized causal event occurring between 28 days and 24 months of age was considered to define the cases. Trends in prevalence were explored using graphical methods (Lowess and Cusum control chart) and modeled with negative binomial regressions. Over the study period, 404 cases were identified as post-neonatal cases (5.5% of the total). Mean prevalence rate was 1.20 per 10,000 live births (95% CI [1.08-1.31]). A significant downward trend was observed (p = 0.001), with an accentuated decrease in the 1990s. The prevalence of severe cases which account for around one third of the total also significantly decreased over time (p less than 0.001). In 46% of cases, an infectious aetiology was reported; the corresponding prevalence significantly decreased since 1989. No significant decrease was observed for the rate of cases due to a vascular episode or of traumatic origin. Our results emphasize the need of large population-based surveillance systems to reliably monitor trends in prevalence in rare subgroups of children like those with acquired cerebral palsy. The decrease of the overall prevalence as well as those of the most severe cases may be partly due to public health actions targeted to prevent such events. (Contains 2 figures and 2 tables.)

Rett syndrome (RTT) is characterized by a relatively specific clinical phenotype. We screened 152 individuals with RTT phenotype. A total of 22 different known MECP2 mutations were identified in 42 subjects (27.6%). Of the 22 mutations, we identified 7 (31.8%) frameshift-causing deletions, 4 (18.2%) nonsense, 10 (45.5%) missense mutations and one insertion (4.5%). The most frequent pathologic changes were: p.Thr158Met (14.2%) and p.Arg133Cys (11.9%) missense, and p.Arg255Stop (9.5%) and p.Arg294Stop (9.5%) nonsense mutations. We also detected the c.925C>T (p.Arg309Trp) mutation in an affected patient, whose role in RTT pathogenesis is still unknown. Patients without detectable MECP2 defects were screened for mutations of cyclin-dependent kinase-like 5 (CDKL5) gene, responsible for the early-onset variant of RTT. We discovered two novel mutations: c.607G>T resulting in a termination codon at aa203, disrupting the catalytic domain, and c.1708G>T leading to a stop at aa570 of the C terminus. Both patients with CDKL5 mutation presented therapy-resistant epilepsy and a phenotype fitting with the diagnosis of early-onset variant of RTT. No FOXG1 mutation was detected in any of the remaining patients. A total of 110 (72.5%) patients remained without molecular genetic diagnosis that necessitates further search for novel gene mutations in this phenotype. Our results also suggest the need of screening for CDKL5 mutations in patients with Rett phenotype tested negative for MECP2 mutations. [ABSTRACT FROM AUTHOR]

Various syndromes of the Ras-mitogen-activated protein kinase (MAPK) pathway, including the Noonan, Cardio-Facio-Cutaneous, LEOPARD and Costello syndromes, share the common features of craniofacial dysmorphisms, heart defect and short stature. In a subgroup of patients, severe muscle hypotonia, central nervous system involvement and failure to thrive occur as well. In this study we report on five children diagnosed initially with classic metabolic and clinical symptoms of an oxidative phosphorylation disorder. Later in the course of the disease, the children presented with characteristic features of Ras-MAPK pathway-related syndromes, leading to the reevaluation of the initial diagnosis. In the five patients, in addition to the oxidative phosphorylation disorder, disease-causing mutations were detected in the Ras-MAPK pathway. Three of the patients also carried a second, mitochondrial genetic alteration, which was asymptomatically present in their healthy relatives. Did we miss the correct diagnosis in the first place or is mitochondrial dysfunction directly related to Ras-MAPK pathway defects? The Ras-MAPK pathway is known to have various targets, including proteins in the mitochondrial membrane influencing mitochondrial morphology and dynamics. Prospective screening of 18 patients with various Ras-MAPK pathway defects detected biochemical signs of disturbed oxidative phosphorylation in three additional children. We concluded that only a specific, metabolically vulnerable sub-population of patients with Ras-MAPK pathway mutations presents with mitochondrial dysfunction and a more severe, early-onset disease. We postulate that patients with Ras-MAPK mutations have an increased susceptibility, but a second metabolic hit is needed to cause the clinical manifestation of mitochondrial dysfunction. [ABSTRACT FROM AUTHOR]

Objective: PCDH19-related epilepsy occurs predominantly in girls and is caused by pathogenic variant of the protocadherin-19 gene. The initial seizures usually develop in association with fever, begin on average at 15 months of age, and often occur in clusters. Autistic symptoms, intellectual disability, and sleep disturbance are often associated., Methods: In our retrospective, multicenter study, we reviewed clinical data of nine children with epilepsy genetically confirmed to be associated with PCDH19., Results: In the Hungarian patient population aged 0-18 years, the prevalence of PCDH19-related epilepsy was found to be lower (1/100000 live births in females) than the reported international data (4-5/100000 live births in females). Four of our nine patients had positive family history of epilepsy (cousins, sister, and mother). We assessed brain anomalies in three patients (in one patient focal cortical dysplasia and left anterior cingulate dysgenesis, and in two children right or left hippocampal sclerosis) and in another three cases incidentally identified benign alterations on brain MRI were found. The first seizure presented as a cluster in seven out of nine children. In seven out of nine cases occurred status epilepticus. Six out of nine children had autistic symptoms and only one child had normal intellectual development. Seven of our patients were seizure free with combined antiseizure medication (ASM). The most effective ASMs were levetiracetam, valproate, and clobazam., Significance: The prevalence of PCDH19-related epilepsy is presumably underestimated because of the lack of widely performed molecular genetic evaluations. Molecular genetic testing including PCDH19 pathogenic variants is recommended for female patients with an onset of seizures before the age of 3 years., (© 2024 The Author(s). Epileptic Disorders published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Background and Objectives: To report on prevalence, associated impairments, severity, and neuroimaging findings in children with ataxic cerebral palsy (CP)., Methods: In children coded as having ataxic CP in the Central database of Joint Research Center-Surveillance of Cerebral Palsy in Europe (JRC-SCPE) and born during 1980-2010, birth characteristics, severity profiles including associated impairments, neuroimaging patterns, and the presence of syndromes were analyzed. Definitions were according to validated SCPE guidelines. Prevalence over time was estimated using Poisson regression., Results: In total, 679 children with ataxic CP were identified in 20 European CP registers. The proportion with ataxic CP was 3.8% and varied from 0% to 12.9%. Prevalence over time showed no significant trend. Approximately 70% of children with ataxic CP were able to walk, and 40% had severe intellectual impairment and a high impairment index. Children with ataxic CP were mostly born at term (79%) and with normal birth weight (77%). Neuroimaging patterns revealed normal findings in 29%, brain maldevelopments in 28.5%, miscellaneous findings in 23.5%, and brain injuries in 19%, according to the SCPE classification. Genetic syndromes were described in 9%., Discussion: This register-based multicenter study on children with ataxic CP provides a large sample size for the analysis of prevalence, severity, and origin of this rare CP subtype. Even with strict inclusion and classification criteria, there is variation between registers on how to deal with this subtype, and diagnosis of ataxic CP remains a challenge. Ataxic cerebral palsy differs from other CP subtypes: children with ataxic CP have a disability profile that is more pronounced in terms of cognitive than gross motor dysfunction. They are mostly term born and the origin rarely suggests acquired injuries. In addition to neuroimaging, a comprehensive genetic workup is particularly recommended for children with this CP type.

Anti-N-methyl-D-aspartate encephalitis is an autoimmune disorder characterized by autoantibodies produced against NMDA receptors. We report the case of a 17-year-old drug user teenager who presented with altered mental scale, psychiatric symptoms and autonomic dysfunction. In the background we diagnosed NMDA encephalitis. We supposed that synthetic cannabinoids/drugs may have lead to the of trigger NMDA encephalitis via the altered activation of the immune system and molecular mimicry mechanism.