CHEO is a pediatric health-care and research centre located in Ottawa, Ontario, Canada. CHEO is also a tertiary trauma centre for children in Eastern Ontario, Nunavut, Northern Ontario and the Outaouais region of Quebec and one of only seven Level I trauma centres for children in Canada (others being The Hospital for Sick Children in Toronto, the Montreal Children's Hospital in Montreal, the Centre hospitalier universitaire Sainte-Justine in Montreal, IWK Health Centre in Halifax, Alberta Children's Hospital in Calgary, Stollery Children's Hospital in Edmonton, and BC Children's Hospital in Vancouver). It is affiliated with The Ottawa Hospital and the University of Ottawa, and is funded by the provincial Government of Ontario. CHEO first opened its doors on May 17, 1974, and is located at 401 Smyth Road, Ottawa, Ontario.CHEO includes a hospital, children's treatment centre, school and research institute, with satellite services located throughout Eastern Ontario. CHEO provides complex pediatric care, research and education. CHEO is a founding member of Kids Health Alliance, a network of partners.In addition to its clinical mandate, CHEO is an academic health science centre. Each year, it provides education to 2,300 future pediatricians, nurses, and other health professionals.
BACKGROUND:Metabolic syndrome (MS) in children with arterial hypertension (HT) contributes to early cardiovascular organ damage, yet MS definitions vary and overlook abnormalities such as elevated serum uric acid (UA). Our study assessed the prevalence, clinical characteristics, and prognostic value of classical and UA-modified MS definitions in hypertensive children at the Children's Memorial Health Institute in Warsaw, Poland. METHODS:We included 420 patients aged 10-18 years with HT confirmed by ambulatory blood pressure monitoring (ABPM). All underwent anthropometric evaluation, office BP and ABPM measurements, biochemical testing including UA, and assessment of hypertension-mediated organ damage (HMOD): left ventricular mass index (LVMi), carotid intima-media thickness (cIMT), and pulse wave velocity (PWV). RESULTS:MS prevalence by IDF criteria was 14.5%, including 18.3% in children aged 10-15 and 9.4% in those aged 16-18. MS occurred more often in primary than secondary hypertension (17.7% vs. 5.5%; P = 0.003). Compared with non-MS patients, those with MS had higher triglycerides and LDL, slightly higher fasting plasma glucose (P = 0.061), and lower HDL (P < 0.001). UA levels were higher in primary vs. secondary HT (5.8 vs. 5.2 mg/dl; P < 0.001) and in MS vs. non-MS (6.3 vs. 5.5 mg/dl; P < 0.001). MS was associated with greater cIMT-SDS (1.26 vs. 0.92; P = 0.012) and more frequent left ventricular hypertrophy (42% vs. 29%; P = 0.08). Results were consistent across primary and secondary HT subgroups. Adding UA to the MS definition improved prediction of LVH, increasing agreement from κ = 0.086 to 0.190. CONCLUSIONS:MS is common in hypertensive children, particularly those with primary HT. Including UA in MS criteria may enhance prediction of HMOD, especially LVH.
Prospective, multi-institutional surgical data collection in pediatric neuro-oncology remains limited despite substantial variation in operative and perioperative management across institutions. To address this, we are developing the NeuroPoint Alliance (NPA) Quality Outcomes Database (QOD) Pediatric Tumor Surgery Registry. Here, we used a modified Delphi process to define a core outcome set for the registry. A modified Delphi study was conducted among pediatric neurosurgeons serving as site principal investigators for the proposed registry. Candidate data elements were rated on a 9-point Likert scale. Consensus for inclusion was predefined as ≥70
Epilepsy-dyskinesia syndromes (EDS) are a complex group of neurogenetic disorders characterized by the co-occurrence of epilepsy and movement disorders. Despite their increasing clinical recognition, the molecular and clinical spectrum of EDS remains poorly understood. While numerous genetic aetiologies have been implicated, systematic characterization across diverse populations is lacking. This study aimed to delineate the molecular and clinical landscape of EDS in a large, multinational cohort, focusing on movement disorder phenomenologies, genotype-phenotype correlations, and treatment responses. We conducted a multicentre, cross-sectional study involving 609 patients with childhood-onset movement disorders associated with pathogenic variants in 105 predefined genes. Clinical data were collected from over 30 centres across 25 countries using a standardized survey, capturing movement disorder phenomenologies, seizure types, developmental trajectories, motor function and treatment outcomes. We classified EDS-associated genes into biologically meaningful groups by performing unsupervised clustering, which integrated protein-protein interactions and functional data. Genotype-phenotype correlations were assessed using a one-versus-remainder approach to quantify differential enrichment of clinical manifestations and treatment responses. Pathogenic variants were identified in 74 of the 105 predefined genes, with 12 genes accounting for two-thirds of cases. The most frequently reported genes were MECP2, ATP1A3, and GNAO1. Data-driven gene cluster analysis identified 12 functional groups, mapping EDS to relevant biological pathways and informing genotype-phenotype analyses. Dystonia (34.2%), stereotypies (24.6%) and ataxia (16.2%) were the most prevalent movement disorders, with gene- and pathway-specific movement disorder signatures extending beyond previously known associations. Notably, most patients exhibited mixed movement disorders, highlighting the phenotypic complexity of EDS. Epilepsy was diagnosed in only 66.8% of cases, suggesting that some EDS primarily manifest as movement disorders. Developmental trajectories varied by genetic aetiology. Pharmacological responses demonstrated gene- and pathway-specific treatment effects, confirming established therapeutic associations (e.g. PRRT2 variants responding to carbamazepine) and identifying previously unrecognized effects, such as exacerbation of motor symptoms with levodopa/carbidopa in GNAO1 and MECP2 variants. This study provides a detailed characterization of EDS, identifying distinct genetic, phenotypic and therapeutic patterns. The findings underscore the need for early recognition of movement disorders within epilepsy cohorts, offer immediate insights to improve anticipatory guidance and clinical management of EDS, and advocate for personalized treatment strategies. By laying the groundwork for longitudinal studies to refine genotype-phenotype correlations and establish a natural history, this work paves the way for interventional clinical trials and precision medicine approaches.
Mass spectrometry-based metabolomics is a valuable tool for advancing pediatric health research. Along with nuclear magnetic resonance, it enables detailed biochemical analysis from minimal sample volumes, a critical feature for pediatric diagnosis. Metabolomics supports early detection of inherited metabolic disorders, monitors metabolic changes during growth, and identifies disease markers for a range of conditions, including metabolic, neurodevelopmental, oncological, and infectious diseases. Integrating metabolomic data with genomic, proteomic (i.e., multi-omics approaches), and clinical information enables more precise and preventive care by enhancing risk assessment and informing targeted treatments. However, routine clinical use faces several challenges, including establishing age- and sex-specific reference ranges, standardizing sample collection and processing, ensuring consistency across platforms and laboratories, expanding reference databases, and improving data comparability. Ethical and regulatory issues, including informed consent, data privacy, and equitable access, also require careful consideration. Advances in high-resolution and single-cell metabolomics, artificial intelligence for data analysis, and cost-effective testing are expected to address these barriers and support broader clinical adoption. As standards and data-sharing initiatives grow, metabolomics will play an increasingly important role in pediatric diagnostics and personalized care, enabling earlier disease detection, improved treatment monitoring, and better long-term outcomes for children.
Objectives Early Relational Health (ERH)-a foundational determinant of lifelong mental and physical health-is emerging as a critical component of paediatric practice. However, its integration into Canadian paediatric residency training remains poorly defined. This study conducted an environmental scan of Canadian paediatric residency programs to examine the current state of ERH education, as reported by Program Directors (PDs).Methods PDs from Canadian paediatric residency programs were invited to complete an anonymous survey (September-December 2023). The survey explored PDs' definitions of ERH, existing training opportunities, perceptions of how well ERH is addressed, and motivators for incorporating structured curricula. Data were analyzed using descriptive statistics.Results Ten PDs completed the survey (37% response rate). All (100%) General Pediatrics PDs reported their program teaches positive parenting and early child development "Not Very Well," compared with 20% of subspecialty PDs. Sixty per cent of General Pediatrics PDs and all Subspecialty PDs rated an ERH curriculum as "Very Important" for their learners. Nearly all respondents expressed interest in implementing a structured, evidence-based, self-guided ERH curriculum to improve resident knowledge and skills.Discussion This is the first study to evaluate ERH training within Canadian paediatric residency programs. While some subspecialty programs have integrated ERH content, most General Pediatrics programs identified clear training gaps. All PDs recognized ERH as an essential topic despite limited formal education opportunities. Development of a structured, competency-based ERH curriculum represents a key next step in advancing paediatric training and care quality in Canada.
