Towards a histological diagnosis of childhood small vessel CNS vasculitis.

Background: Primary small vessel CNS vasculitis (sv-cPACNS) is a challenging inflammatory brain disease in children. Brain biopsy is mandatory to confirm the diagnosis. This study aims to develop and validate a histological scoring tool for diagnosing small vessel CNS vasculitis.

Corpus callosotomy for refractory epileptic spasms: Systematic review and meta-analysis.

Objective: We systematically reviewed the existing literature on the efficacy of corpus callosotomy (CC) in children and adults with refractory epileptic spasms (ES) and analyzed clinical determinants of seizure outcomes.

Methods: The Preferred Report Items for Systematic Reviews and Meta-Analysis Guidelines (PRISMA) were followed. We systematically searched MEDLINE, EMBASE and Cochrane databases up to December 2023 for original research articles on using CC to treat refractory ES.

Clinical features and outcomes in children with seronegative autoimmune encephalitis.

Aim: To characterize the presenting features and outcomes in children with seronegative autoimmune encephalitis, and to evaluate whether scores at nadir for the Modified Rankin Scale (mRS) and Clinical Assessment Scale for Autoimmune Encephalitis (CASE) or its paediatric-specific modification (ped-CASE) are predictive of outcomes.

Method: This observational study included children younger than 18 years of age with seronegative autoimmune encephalitis. Demographics and clinical data were collected.

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.

Background: Mitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits. Deficiency of the mitochondrial succinyl-CoA ligase/synthetase enzyme secondary to pathogenic variations in the and genes is a subtype of MDDS that presents with neurological manifestations and a specific biochemical profile.

Methods: This cross-sectional series describes five patients with MDDS secondary to pathogenic variations in the and genes from two tertiary care centers in Canada and India.

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand the disease mechanism and improve therapeutic decision-making. We aggregated genetic and clinical data from 172 individuals with likely pathogenic/pathogenic (lp/p) SLC6A1 variants and functional data for 184 variants (14.

Vagal nerve stimulator-associated sleep disordered breathing secondary to vagal-induced laryngospasm in pediatric populations: Case presentation and systematic review.

Objectives: Sleep disordered breathing (SDB) is a well-documented complication of vagus nerve stimulation (VNS) in the literature. Yet, a formal consensus on its management has not been established, particularly in the pediatric population. This study aims to evaluate the current literature on VNS-associated SDB in order to further characterize its presentation, pathogenesis, diagnosis, and treatment.

Families' Knowledge Change in Paediatric Drug Resistant Epilepsy: A Novel Clinic Model.

Background: Epilepsy is a chronic condition that affects approximately 95,000 Ontarians, of whom approximately 15,000 are children under the age of 18. Drug resistant epilepsy (DRE) will affect around 30% of these children who will require more advanced care due to their medical complexities. The purpose of this study is to determine if receiving care in a paediatric Comprehensive Epilepsy Clinic (CEC) is associated with positive outcomes for children living with DRE and their families by looking at three health outcomes: 1) families' knowledge of their child's diagnosis and treatment plan, 2) navigational access to both the hospital and community epilepsy services, and 3) health behaviours.

The state of pediatric tuberous sclerosis complex epilepsy care: Results from a national survey.

Objective: Epilepsy associated with tuberous sclerosis complex (TSC) can be challenging to treat and is associated with significant disease burden. Our objective was to better understand the state of epilepsy care of TSC amongst pediatric neurologists in Canada, identify gaps in care and determine whether access to a dedicated TSC clinic has an impact on epilepsy management.

Methods: A survey was developed after a literature review and discussion amongst two pediatric epileptologists and one nurse practitioner with expertise in TSC about the state of epilepsy care of TSC patients in Canada.

Impact of number of anti-seizure medications on long-term health-related quality of life in children with epilepsy: A prospective cohort study.

Purpose: Health-related quality of life (HRQL) is compromised in children with epilepsy. We aimed to determine whether children diagnosed with epilepsy between ages 4-12 years who are exposed to a higher number of anti-seizure medication (ASM) over the first 2 years, have poorer HRQL 10 years after diagnosis.

Methods: Data were obtained from 195 children enrolled in the Health-Related Quality of Life in Children with Epilepsy Study (HERQULES) in Canada.

"Obvious" indications for Neural antibody testing in Epilepsy or Seizures: The ONES checklist.

Objective: Numerous predictive scores have been developed to help determine which patients with epilepsy or seizures of unknown etiology should undergo neural antibody testing. However, their diagnostic advantage compared to only performing testing in patients with "obvious" indications (e.g.

Epilepsy Management in Tuberous Sclerosis Complex: Existing and Evolving Therapies and Future Considerations.

Tuberous sclerosis complex (TSC) is a rare autosomal dominant condition that affects multiple body systems. Disruption of the mammalian target of rapamycin (mTOR) pathway results in abnormal cell growth, proliferation, protein synthesis, and cell differentiation and migration in TSC. In the central nervous system, mTOR disruption is also believed to influence neuronal excitability and promote epileptogenesis.

Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance.

We present a 16-year-old girl with a unique clinical phenotype characterized by rapidly progressive exercise intolerance, transient exertional weakness, and progressive muscle cramps involving all limbs and bulbar muscles, following a first myoglobinuric episode at age 15 years, arising from homozygosity for a novel missense mutation (c.281G>C) in .

Diabetic neuropathy and axon reflex-mediated neurogenic vasodilatation in type 1 diabetes.

Objective: Axon reflex-mediated neurogenic vasodilatation in response to cutaneous heating may reflect early, pre-clinical small fibre dysfunction. We aimed to evaluate the distribution of the vascular flare area measured by laser doppler imaging ("LDI(FLARE) area") in type 1 diabetes and in healthy volunteers.

Research And Methods: Concurrent with clinical and electrophysiological examination to classify diabetic sensorimotor polyneuropathy (DSP), LDI(FLARE) area (cm(2)) was determined in 89 type 1 diabetes subjects matched to 64 healthy volunteers.