Neuronal ceroid lipofuscinoses (NCLs) are rare, progressive lysosomal neurodegenerative disorders. Among late-infantile onset forms (after 18 months of age), type 2 (CLN2 disease) is the most frequent. This study assessed the incidence and disease burden at diagnosis of CLN2 disease in France.

Episodic neurologic disorders, such as paroxysmal torticollis, paroxysmal tonic upward gaze deviation, migraine, and episodic ataxia, represent a diagnostic challenge in paediatric patients. Variants in the CACNA1A and other genes such SCN8A and DEPDC5, have been implicated in episodic ataxia, hemiplegic migraine, and related conditions. However, the diagnostic yield of CACNA1A testing in paediatric populations with these symptoms remains uncertain.

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.

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.

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.

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.

Data regarding treatment in pediatric relapsing MOGAD are limited.

Aicardi syndrome (AIC) is a rare neurodevelopmental disorder historically characterised by the presence of chorioretinal lacunae, corpus callosum agenesis, infantile spasms and several supporting features that aid in diagnosis. However, the unclear aetiology and evolving diagnostic tools have led to ongoing reconsideration of the criteria, based on individual approaches. Our study aimed to establish, for the first time, an expert-based consensus on diagnostic criteria for AIC by integrating both existing and novel ones.

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.

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.

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.