The role of MR Arterial-Spin-Labeling Cerebral Blood Flow maps (ASL-CBF) in the assessment of pediatric focal epilepsy is still debated. We aim to compare the Seizure Onset Zone (SOZ) detection rate of three methods of evaluation of ASL-CBF: 1) qualitative visual (qCBF), 2) z-score voxel-based quantitative analysis of index of asymmetry (AI-CBF), and 3) z-score voxel-based cluster analysis of the quantitative difference of patient’s CBF from the normative data of an age-matched healthy population (cCBF). Interictal ASL-CBF were acquired in 65 pediatric patients with focal epilepsy: 26 with focal brain lesions and 39 with a normal MRI. All hypoperfusion areas visible in at least 3 contiguous images of qCBF analysis were identified. In the quantitative evaluations, clusters with a significant z-score AI-CBF ≤ −1.64 and areas with a z-score cCBF ≤ −1.64 were considered potentially related to the SOZ. These areas were compared with the SOZ defined by the anatomo-electro-clinical data. In patients with a positive MRI, SOZ was correctly identified in 27% of patients using qCBF, 73% using AI-CBF, and 77% using cCBF. In negative MRI patients, SOZ was identified in 18% of patients using qCBF, in 46% using AI-CBF, and in 64% using cCBF (p < 0.001). Quantitative analyses of ASL-CBF maps increase the detection rate of SOZ compared to the qualitative method, principally in negative MRI patients.

Background Kleefstra's syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring intellectual disability, hypotonia, and dysmorphic facial features. Autism spectrum disorder, severe language impairment, and sleep disorders have also been described. The syndrome can be either caused by a microdeletion in 9q34.3 or by pathogenic variants in the euchromatin histone methyltransferase 1 gene (EHMT1, *607001). Although epilepsy has been reported in 20 to 30% of subjects, a detailed description of epileptic features and underlying etiology is still lacking. The purpose of this study is to investigate epilepsy features in a cohort of epileptic patients with KS. Methods This multicenter study investigated eight patients with KS and epilepsy. Our findings were compared with literature data. Results We included five patients with 9q or 9q34.33 deletions, a subject with a complex translocation involving EHMT1, and two with pathogenic EHMT1 variants. All patients presented with moderate to severe developmental delay, language impairment, microcephaly, and infantile hypotonia. Although the epileptic manifestations were heterogeneous, most patients experienced focal seizures. The seizure frequency differs according to the age of epilepsy onset, with patients with early-onset epilepsy (before 36 months of age) presenting more frequent seizures. An overtime reduction in seizure frequency, as well as in antiseizure drug number, was observed in all patients. Developmental delay degree did not correlate with seizure onset and frequency or drug resistance. Conclusion Epilepsy is a frequent finding in KS, but the underlying pathogenetic mechanism and specific features remain elusive. The data that support the findings of this study are reported in the manuscript. ^* T.G. and R.C. contributed equally to this work. Received: 11 June 2023 Accepted: 12 September 2023 Article published online: 06 October 2023 © 2023. Thieme. All rights reserved. Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

Background: The COVID-19 pandemic has had a profound impact on pediatric mental health, contributing to a global surge in psychiatric emergencies among children and adolescents. This study aimed to evaluate trends in pediatric emergency department (PED) visits for three key psychiatric conditions—anxiety disorders (ADs), self-injury behaviors (SIBs), and psychomotor agitation (PMA)—before and after the onset of the COVID-19 pandemic. Methods: We conducted a retrospective observational study at a tertiary pediatric hospital in Italy, analyzing all psychiatric presentations to the PED from 1 January 2018 to 31 December 2024. The data were divided into pre-COVID and post-COVID periods and included patient demographics, recurrence of visits, clinical features, hospital admissions, and pharmacological management. Diagnoses were confirmed by chart review. Results: Of 233,867 total PED visits, 1082 were due to primary psychiatric concerns. A marked increase in visits was observed postCOVID: SIB incidence rose from 3.6 to 15.1 per 10,000 visits (p < 0.0001), PMA from 9.4 to 17.8 (p < 0.0001), and AD from 17.7 to 21.6 (p = 0.018). SIB cases showed increased recurrence (from 3.4% to 27.4%, p = 0.004) and greater pharmacological intervention, whereas PMA was associated with a rise in heteroaggression (from 14.3% to 39.8%, p < 0.0001). Pharmacological treatment remained largely consistent, with benzodiazepines and neuroleptics most frequently used. The emerging use of intranasal ketamine was noted in select cases. Conclusions: This study highlights the increasing burden of pediatric psychiatric emergencies in the wake of the COVID-19 pandemic. The findings underscore the urgent need to implement standardized emergency care protocols, strengthen outpatient mental health services, and develop pediatric-specific pharmacological guidelines to improve outcomes in this vulnerable population.

The arginine methyltransferase 7 (PRMT7) gene plays a role in signal transduction and protein interactions and negatively regulates neuronal differentiatio