Patients with Severe Neurological Impairment (SNI) have progressive conditions of the central nervous system, resulting in permanent cognitive and motor disabilities and enduring hypercomplexity. This study aimed to explore clinicians' shared psychosocial experience of caring for families of children with SNI, including the challenges, and components of care that bring clinicians meaning and purpose, to identify resource pathways to sustain clinicians.

Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy, with variable pediatric presentations. Data on quality of life (QoL) and fatigue in children are limited. This study evaluated clinical features, QoL, and fatigue in pediatric DM1.

Duchenne muscular dystrophy (DMD) is a rare fatal genetic disorder with a tight correlation between the genotype and the phenotype of the patients. However, the relationship between genotype and phenotype is yet incompletely understood, with some cases manifesting a different phenotype than predicted from their genotype. Since the genetic diagnosis is often targeted to specific gene sections, and the genotype-phenotype correlations guide early treatment decisions, accumulating clinical and epidemiological data for these rare disorders is required to refine local management strategies. This article describes the genotype and phenotype landscape of 239 patients treated in the Pediatric Neurology Clinic of the Clinic Psychiatry Hospital "Prof. Dr. Alexandru Obregia" in Bucharest, using randomly collected data from a ten-year interval (2012-2022). It revealed a significant improvement in the quality of care, highlighted by a notable reduction in the average age at diagnosis in recent years, although considerable variability remains across counties. The study identified three mutations that were not previously described in the Edystrophin or TREAT-NMD DMD Global Database. The accuracy of the Reading-Frame rule was 88.4 % for deletions. For exceptions from the rule, the involvement of different isoforms, binding domains, structural domains, and the disturbance of the three-dimensional structure of the rod domain were not reliable indicators of the phenotype. 12.9 % of all patients had nonsense mutations with a DMD phenotype that could benefit from Ataluren treatment within the National Treatment Program, and 15 % were eligible for exon-skipping therapies, with exon 51 having the broadest applicability (7.1 %).

Paediatric autoimmune encephalitis and acute disseminated encephalomyelitis (ADEM) are neuroinflammatory disorders that can cause acute MRI abnormalities. Recent analyses suggest brain volume reductions months to years after disease onset. This study aimed to verify whether decreased gray matter thickness would also be observed in whole-brain cortical thickness as well as in temporal polar and orbitofrontal cortices.

The search for convenient and effective biomarkers is a critical and pressing need for spinal muscular atrophy (SMA) in the era of disease-modifying treatment.

This research sought to understand the experiences of healthcare providers working at the coalface of paediatric sleep medicine in a large tertiary children's hospital with a focus on the current service needs, challenges, and strategies.

Data regarding treatment in pediatric relapsing MOGAD are limited.

Tuberous Sclerosis Complex (TSC) is a rare, multisystem genetic disorder with highly variable clinical manifestations. While international registries such as TOSCA have provided large-scale data, national-level studies remain limited. This study represents the first national cohort analysis of TSC patients in Greece, providing comprehensive insights into clinical characteristics, genotype-phenotype correlations, and previously underreported rare manifestations.

This study assessed impacts of non-seizure outcomes and caregiver priorities for improvement in individuals with severe neurodevelopmental encephalopathy with or without epilepsy (SNDE ).

The evolving spectrum of acute leukoencephalopathy with restricted diffusion (ALERD) in Indian children is distinct from that of their Japanese counterparts.

Opsoclonus-myoclonus-ataxia syndrome (OMS) is a rare pediatric immune-mediated disorder characterized by motor and behavioral disturbances, often with regression of previously acquired skills. While aggressive immunotherapy has improved motor outcomes, long-term cognitive and affective sequelae remain present.

Seizures are a common symptom of pediatric high-grade gliomas (pHGG). This study aimed to characterize these seizures in the context of the underlying tumor disease in this age group.

Glucose Transporter Type 1 Syndrome (GLUT1DS) is a rare neurometabolic disease caused by mutations in the SLC2A1 gene, that limits the transport of glucose across the blood-brain barrier. Epilepsy, intellectual disability, movement disorders and coordination disorder are common characteristics found in the syndrome.

Varicella Zoster Virus (VZV) associated Acute Ischemic Stroke (AIS) in pediatric populations is a rare and potentially underrecognized condition. The global COVID-19 pandemic has led to significant changes in infectious disease patterns, including possible impacts on the incidence of VZV infections. This study describes the incidence of VZV associated AIS in Denmark from 2013 to 2023 using national surveillance data from Denmark. Furthermore, the study investigates a cluster of VZV-associated AIS cases identified over a 10-month period in 2022 in a geographically confined area north-west of Copenhagen, Denmark, following the lifting of COVID-19 restrictions.

Vitamin B12 deficiency in infancy can lead to global developmental delay or regression along with skin pigmentation, hair changes and tremors, commonly known as the infantile tremor syndrome (ITS). Although a treatable entity, the data on the long-term neuro-developmental outcomes of these infants is lacking. In this cross-sectional study, a follow-up cohort of 35 children (aged ≥2 years) with ITS, were assessed for neuro-developmental outcomes using Malin's adaptation of the Vineland Social Maturity Scale (VSMS). A total of 35 children (17 males) were enrolled. The mean age at the social quotient (SQ) assessment was 30 months (SD 7.4). The mean duration of follow-up was 16.3 months (SD 8.3). Only 9 cases (26 %) had an SQ in the average range (85-105), while 18 children (51 %) had a borderline disability (SQ, 70-84). Seven children had an SQ in the mild disability range (55-69), and one child had an SQ of <55. Despite rapid improvement in the immediate post-treatment phase, these infants have significant developmental delays in follow-up.

Fatigue, depression, and decreased health-related quality of life (HRQoL) are commonly reported among patients with pediatric-onset multiple sclerosis (POMS). However, their interplay and distinct manifestations remain insufficiently understood.

The domains of Leventhal's Common Sense Model of Illness Representations have been linked to various physical and emotional outcomes in several health conditions. Research on illness perceptions among adults, and even more so among children and adolescents, with epilepsy remains limited. The present review aims to examine and compare the reported associations between illness perceptions and various outcomes in adults and children/adolescents with epilepsy.