Developmental Medicine and Child Neurology最新文献

Aim: To characterize the clinical features, management, and outcomes of paediatric patients with status epilepticus, and to explore whether distinct clinical subgroups can be identified from clinical descriptions.

Method: This was an exploratory retrospective single-centre cohort study of paediatric status epilepticus admissions to Switzerland's largest tertiary-level paediatric hospital. We analysed 642 status epilepticus admissions from 467 patients (230 females; median age at first 4 years 11 months [interquartile range 1 year 5 months-7 years 5 months]). We applied descriptive statistics and machine-learning approaches. A k-means clustering algorithm was used to identify distinct clinical subgroups, while least absolute shrinkage and selection operator regression tested whether clinical metrics could predict mortality.

Results: Age-related differences in status epilepticus aetiology were observed: infants and younger children more often presented with acute symptomatic causes, whereas older children and adolescents were more likely to have pre-existing epilepsy. Out-of-hospital treatment was associated with faster treatment initiation and better treatment response. Shorter status epilepticus onset to treatment latency correlated with higher response rates and reduced need for intensive care. Cluster analysis identified three clinical subgroups: (1) younger patients with acute status epilepticus associated with an infection, including febrile status epilepticus ('febrile seizure' cluster); (2) younger patients with acute status epilepticus and a more severe in-hospital course ('para-infectious' cluster); and (3) older patients with an established epilepsy diagnosis ('known epilepsy' cluster). Across the cohort, progressive epilepsy aetiology and a previous diagnosis of epilepsy were associated with increased mortality risk.

Interpretation: Paediatric status epilepticus comprises clinically distinct subgroups that are identifiable from routine clinical data. Such data-driven clinical clustering may help refine risk stratification and inform clinical decision making in paediatric status epilepticus.

Aim: To estimate the prevalence of spina bifida across the lifespan, the number of people with spina bifida by state, and variations in spina bifida prevalence by insurance type, state, and selected demographics.

Method: This was an observational study that used administrative insurance data. We used three public-payer data sets (Medicaid Fee for Service, Medicare, and Medicare Advantage) and one large employer-sponsored insurance database (Health Care Cost Institute [HCCI]) to estimate all-age prevalence of spina bifida in the USA. Claims data from 2017 to 2019 were used to identify spina bifida based on International Classification of Diseases, 10th Revision codes.

Results: The overall prevalence estimate of spina bifida was 3.20 per 10 000 (7.03 for Medicaid, 5.03 for Medicare, 1.72 for HCCI) and varied by demographics. We estimate at least 92 551 people in the USA live with spina bifida.

Interpretation: Most spina bifida prevalence estimates focus on birth prevalence. This study demonstrates that prevalence estimates across all ages throughout the lifespan can be generated using multiple insurance data sources.

Cerebral palsy (CP) is a widely used descriptive label for a spectrum of motor impairments caused by non-progressive brain injury or malformation during early development. Recent advances in genetics, inflammation research, and neurophysiology have refined scientific understanding of CP, and studies in diverse global contexts, including low- and middle-income countries, have broadened knowledge of its clinical presentation. Shifting societal perspectives, particularly those informed by individuals with lived experience, have challenged ableist assumptions and promoted conceptual frameworks that are more inclusive. Growing recognition of the lifelong needs of adults with CP has further emphasized the necessity of appropriate services across the lifespan. This manuscript presents an updated description of CP, developed through a collaborative, multidisciplinary process integrating stakeholders' perspectives. A comprehensive stakeholder analysis and mapping strategy ensured wide representation, including individuals with CP, families, clinicians, researchers, and advocacy organizations. Data were collected using surveys, interviews, focus groups, and workshops, enabling a global dialogue that combined lived experience with clinical and scientific expertise. An annotation of 26 specific terms of the updated clinical description supports a clearer and more inclusive shared understanding of CP. We also present a more accessible plain-language version of the description, as well as a single-sentence summary. The updated description is intended as a framework to guide clinical practice, research, and policy, to advance the care, participation, and inclusion of individuals with CP.