搜索结果：Paediatric and perinatal epidemiology

Standardization of data items collected in paediatric clinical trials is an important but challenging issue. The Clinical Data Interchange Standards Consortium (CDISC) data standards are well understood by the pharmaceutical industry but lack the implementation of some paediatric specific concepts. When a paediatric concept is absent within CDISC standards, companies and research institutions take multiple approaches in the collection of paediatric data, leading to different implementations of standards and potentially limited utility for reuse. To overcome these challenges, the conect4children consortium has developed a cross-cutting paediatric data dictionary (CCPDD). The dictionary was built over three phases - scoping (including a survey sent out to ten industrial and 34 academic partners to gauge interest), creation of a longlist and consensus building for the final set of terms. The dictionary was finalized during a workshop with attendees from academia, hospitals, industry and CDISC. The attendees held detailed discussions on each data item and participated in the final vote on the inclusion of the item in the CCPDD. Nine industrial and 34 academic partners responded to the

Perinatal epidemiology often aims to evaluate exposures on infant outcomes. When the exposure affects the composition of people who give birth to live infants (e.g., by affecting fertility, behavior, or birth outcomes), this "live birth process" mediates the exposure effect on infant outcomes. Causal estimands previously proposed for this setting include the total exposure effect on composite birth and infant outcomes, controlled direct effects (e.g., enforcing birth), and principal stratum direct effects. Using perinatal HIV transmission in the SEARCH Study as a motivating example, we present two alternative causal estimands: 1) conditional total effects; and 2) conditional stochastic direct effects, formulated under a hypothetical intervention to draw mediator values from some distribution (possibly conditional on covariates). The proposed conditional total effect includes impacts of an intervention that operate by changing the types of people who have a live birth and the timing of births. The proposed conditional stochastic direct effects isolate the effect of an exposure on infant outcomes excluding any impacts through this live birth process. In SEARCH, this approach quantifi

MRI is preferred over CT in paediatric imaging because it avoids ionising radiation, but its use in spine deformity assessment is largely limited by the lack of automated, high-resolution 3D bony reconstruction, which continues to rely on CT. MRI-based 3D reconstruction remains impractical due to manual workflows and the scarcity of labelled full-spine datasets. This study introduces an AI framework that enables fully automated thoracolumbar spine (T1-L5) segmentation and 3D reconstruction from MRI alone. Historical low-dose CT scans from adolescent idiopathic scoliosis (AIS) patients were converted into MRI-like images using a GAN and combined with existing labelled thoracic MRI data to train a U-Net-based model. The resulting algorithm accurately generated continuous thoracolumbar 3D reconstructions, improved segmentation accuracy (88% Dice score), and reduced processing time from approximately 1 hour to under one minute, while preserving AIS-specific deformity features. This approach enables radiation-free 3D deformity assessment from MRI, supporting clinical evaluation, surgical planning, and navigation in paediatric spine care.

Automated stuttering detection (ASD) systems struggle with paediatric speech due to high acoustic variability in developing voices and the subtle distinction between pathological stuttering and typical developmental disfluencies. We introduce Paediatric-HGNN, a framework using a Context-aware Part-whole Interaction Network (CaPIN) tailored for paediatric data. Instead of conventional 1D signal modelling, our approach builds a heterogeneous graph capturing hierarchical relationships between lexical units (word nodes) and fine-grained acoustic segments (frame nodes). Trained on curated paediatric corpora (UCLASS and FluencyBank), Paediatric-HGNN achieves 82.4% weighted accuracy and a Typical Disfluency F1-score of 0.386. Modelling hierarchical lexical-acoustic interactions captures developmental "searching" behaviour, offering a more robust and interpretable tool for early clinical intervention.

The epidemiology has recently witnessed great advances based on computational models. Its scope and impact are getting wider thanks to the new data sources feeding analytical frameworks and models. Besides traditional variables considered in epidemiology, large-scale social patterns can be now integrated in real time with multi-source data bridging the gap between different scales. In a hyper-connected world, models and analysis of interactions and social behaviors are key to understand and stop outbreaks. Big Data along with apps are enabling for validating and refining models with real world data at scale, as well as new applications and frameworks to map and track diseases in real time or optimize the necessary resources and interventions such as testing and vaccination strategies. Digital epidemiology is positioning as a discipline necessary to control epidemics and implement actionable protocols and policies. In this review we address the research areas configuring current digital epidemiology: transmission and propagation models and descriptions based on human networks and contact tracing, mobility analysis and spatio-temporal propagation of infectious diseases and infodemics

Background Brain tumours are the most common solid malignancies in children, encompassing diverse histological, molecular subtypes and imaging features and outcomes. Paediatric brain tumours (PBTs), including high- and low-grade gliomas (HGG, LGG), medulloblastomas (MB), ependymomas, and rarer forms, pose diagnostic and therapeutic challenges. Deep learning (DL)-based segmentation offers promising tools for tumour delineation, yet its performance across heterogeneous PBT subtypes and MRI protocols remains uncertain. Methods A retrospective single-centre cohort of 174 paediatric patients with HGG, LGG, medulloblastomas (MB), ependymomas, and other rarer subtypes was used. MRI sequences included T1, T1 post-contrast (T1-C), T2, and FLAIR. Manual annotations were provided for four tumour subregions: whole tumour (WT), T2-hyperintensity (T2H), enhancing tumour (ET), and cystic component (CC). A 3D nnU-Net model was trained and tested (121/53 split), with segmentation performance assessed using the Dice similarity coefficient (DSC) and compared against intra- and inter-rater variability. Results The model achieved robust performance for WT and T2H (mean DSC: 0.85), comparable to human a

Standardized alignment of the embryo in three-dimensional (3D) ultrasound images aids prenatal growth monitoring by facilitating standard plane detection, improving visualization of landmarks and accentuating differences between different scans. In this work, we propose an automated method for standardizing this alignment. Given a segmentation mask of the embryo, Principal Component Analysis (PCA) is applied to the mask extracting the embryo's principal axes, from which four candidate orientations are derived. The candidate in standard orientation is selected using one of three strategies: a heuristic based on Pearson's correlation assessing shape, image matching to an atlas through normalized cross-correlation, and a Random Forest classifier. We tested our method on 2166 images longitudinally acquired 3D ultrasound scans from 1043 pregnancies from the Rotterdam Periconceptional Cohort, ranging from 7+0 to 12+6 weeks of gestational age. In 99.0% of images, PCA correctly extracted the principal axes of the embryo. The correct candidate was selected by the Pearson Heuristic, Atlas-based and Random Forest in 97.4%, 95.8%, and 98.4% of images, respectively. A Majority Vote of these sel

The morphological fingerprint in the brain is capable of identifying the uniqueness of an individual. However, whether such individual patterns are present in perinatal brains, and which morphological attributes or cortical regions better characterize the individual differences of ne-onates remain unclear. In this study, we proposed a deep learning framework that projected three-dimensional spherical meshes of three morphological features (i.e., cortical thickness, mean curvature, and sulcal depth) onto two-dimensional planes through quasi-conformal mapping, and employed the ResNet18 and contrastive learning for individual identification. We used the cross-sectional structural MRI data of 682 infants, incorporating with data augmentation, to train the model and fine-tuned the parameters based on 60 infants who had longitudinal scans. The model was validated on 30 longitudinal scanned infant data, and remarkable Top1 and Top5 accuracies of 71.37% and 84.10% were achieved, respectively. The sensorimotor and visual cortices were recognized as the most contributive regions in individual identification. Moreover, the folding morphology demonstrated greater discriminative capability than

Understanding the structural growth of paediatric brains is a key step in the identification of various neuro-developmental disorders. However, our knowledge is limited by many factors, including the lack of automated image analysis tools, especially in Low and Middle Income Countries from the lack of high field MR images available. Low-field systems are being increasingly explored in these countries, and, therefore, there is a need to develop automated image analysis tools for these images. In this work, as a preliminary step, we consider two tasks: 1) automated quality assurance and 2) hippocampal segmentation, where we compare multiple approaches. For the automated quality assurance task a DenseNet combined with appearance-based transformations for synthesising artefacts produced the best performance, with a weighted accuracy of 82.3%. For the segmentation task, registration of an average atlas performed the best, with a final Dice score of 0.61. Our results show that although the images can provide understanding of large scale pathologies and gross scale anatomical development, there still remain barriers for their use for more granular analyses.

BACKGROUND: Randomized controlled trials (RCTs) are the gold standard design of clinical research to assess interventions. However, RCTs cannot always be applied for practical or ethical reasons. To investigate the current practices in rare diseases, we review evaluations of therapeutic interventions in paediatric multiple sclerosis (MS) and Creutzfeldt-Jakob disease (CJD). In particular, we shed light on the endpoints used, the study designs implemented and the statistical methodologies applied. METHODS: We conducted literature searches to identify relevant primary studies. Data on study design, objectives, endpoints, patient characteristics, randomization and masking, type of intervention, control, withdrawals and statistical methodology were extracted from the selected studies. The risk of bias and the quality of the studies were assessed. RESULTS: Twelve (seven) primary studies on paediatric MS (CJD) were included in the qualitative synthesis. No double-blind, randomized placebo-controlled trial for evaluating interventions in paediatric MS has been published yet. Evidence from one open-label RCT is available. The observational studies are before-after studies or controlled stu

Defining the effect of exposure of interest and selecting an appropriate estimation method are prerequisite for causal inference. Understanding the ways in which association between heatwaves (i.e., consecutive days of extreme high temperature) and an outcome depends on whether adjustment was made for temperature and how such adjustment was conducted, is limited. This paper aims to investigate this dependency, demonstrate that temperature is a confounder in heatwave-outcome associations, and introduce a new modeling approach to estimate a new heatwave-outcome relation: E[R(Y)|HW=1, Z]/E[R(Y)|T=OT, Z], where HW is a daily binary variable to indicate the presence of a heatwave; R(Y) is the risk of an outcome, Y; T is a temperature variable; OT is optimal temperature; and Z is a set of confounders including typical confounders but also some types of T as a confounder. We recommend characterization of heatwave-outcome relations and careful selection of modeling approaches to understand the impacts of heatwaves under climate change. We demonstrate our approach using real-world data for Seoul, which suggests that the total effect of heatwaves may be larger than what may be inferred from

Paediatric Acute Myeloid Leukemia is a complex adaptive ecosystem with high morbidity. Current trajectory inference algorithms struggle to predict causal dynamics in AML progression, including relapse and recurrence risk. We propose a symbolic AI and deep learning framework grounded in complexity science, integrating Recurrent Neural Networks, Transformers, and Algorithmic Information Dynamics to model longitudinal single cell transcriptomics and infer complex state transitions in paediatric AML. We identify key plasticity markers as predictive signatures regulating developmental trajectories. These were derived by integrating deep learning with complex systems based network perturbation analysis and dynamical systems theory to infer high dimensional state space attractors steering AML evolution. Findings reveal dysregulated epigenetic and developmental patterning, with AML cells in maladaptive, reprogrammable plastic states, i.e., developmental arrest blocking terminal differentiation. Predictions forecast neurodevelopmental and morphogenetic signatures guiding AML cell fate bifurcations, suggesting ectoderm mesoderm crosstalk during disrupted differentiation. Neuroplasticity and

In the age of digital epidemiology, epidemiologists are faced by an increasing amount of data of growing complexity and dimensionality. Machine learning is a set of powerful tools that can help to analyze such enormous amounts of data. This chapter lays the methodological foundations for successfully applying machine learning in epidemiology. It covers the principles of supervised and unsupervised learning and discusses the most important machine learning methods. Strategies for model evaluation and hyperparameter optimization are developed and interpretable machine learning is introduced. All these theoretical parts are accompanied by code examples in R, where an example dataset on heart disease is used throughout the chapter.

This study investigates the relationship between longitudinal serum creatinine measurements and the risk of adverse kidney outcomes in paediatric patients with auto-immune disorders at Great Ormond Street Hospital for Children NHS Foundation Trust, London. To jointly analyse repeated biomarker measurements and time-to-event outcomes, we employed a joint modelling framework that combines the creatinine trajectories with the time to death or diagnosis of acute kidney injury or chronic kidney disease. Covariates considered in analysis included demographic and clinical characteristics. The results demonstrate a strong association between evolving creatinine profiles and the risk of the composite event. Specifically, treatment with corticosteroids and calcium channel blockers was associated with an increased event risk, whereas immunosuppressive therapy was associated with a reduced risk. The longitudinal component showed that creatinine trajectories were significantly influenced by age and BMI z-score. To demonstrate the practical utility of the proposed framework, dynamic risk predictions were generated using patients' observed creatinine trajectories. Model performance was compared u

Paediatric obstructive sleep apnoea (OSA) is clinically significant yet difficult to diagnose, as children poorly tolerate sensor-based polysomnography. Acoustic monitoring provides a non-invasive alternative for home-based OSA screening, but limited paediatric data hinders the development of robust deep learning approaches. This paper proposes a transfer learning framework that adapts acoustic models pretrained on adult sleep data to paediatric OSA detection, incorporating SpO2-based desaturation patterns to enhance model training. Using a large adult sleep dataset (157 nights) and a smaller paediatric dataset (15 nights), we systematically evaluate (i) single- versus multi-task learning, (ii) encoder freezing versus full fine-tuning, and (iii) the impact of delaying SpO2 labels to better align them with the acoustics and capture physiologically meaningful features. Results show that fine-tuning with SpO2 integration consistently improves paediatric OSA detection compared with baseline models without adaptation. These findings demonstrate the feasibility of transfer learning for home-based OSA screening in children and offer its potential clinical value for early diagnosis.

The imaging and subsequent accurate diagnosis of paediatric brain tumours presents a radiological challenge, with magnetic resonance imaging playing a key role in providing tumour specific imaging information. Diffusion weighted and perfusion imaging are commonly used to aid the non invasive diagnosis of paediatric brain tumours, but are usually evaluated by expert qualitative review. Quantitative studies are mainly single centre and single modality. The aim of this work was to combine multi centre diffusion and perfusion imaging, with machine learning, to develop machine learning based classifiers to discriminate between three common paediatric tumour types. The results show that diffusion and perfusion weighted imaging of both the tumour and whole brain provide significant features which differ between tumour types, and that combining these features gives the optimal machine learning classifier with greater than 80 percent predictive precision. This work represents a step forward to aid in the non invasive diagnosis of paediatric brain tumours, using advanced clinical imaging.

Electronic Patient Record (EPR) systems contain valuable clinical information, but much of it is trapped in unstructured text, limiting its use for research and decision-making. Large language models can extract such information but require substantial computational resources to run locally, and sending sensitive clinical data to cloud-based services, even when deidentified, raises significant patient privacy concerns. In this study, we develop a resource-efficient semi-automated annotation workflow using small language models (SLMs) to extract structured information from unstructured EPR data, focusing on paediatric histopathology reports. As a proof-of-concept, we apply the workflow to paediatric renal biopsy reports, a domain chosen for its constrained diagnostic scope and well-defined underlying biology. We develop the workflow iteratively with clinical oversight across three meetings, manually annotating 400 reports from a dataset of 2,111 at Great Ormond Street Hospital as a gold standard, while developing an automated information extraction approach using SLMs. We frame extraction as a Question-Answering task grounded by clinician-guided entity guidelines and few-shot exampl

Artificial intelligence (AI) systems increasingly shape how people access health information, make medical decisions, and receive care -- yet epidemiology lacks frameworks for measuring AI exposure or studying its health effects at the population level. Here we argue that AI now functions as a determinant of health and propose a conceptual framework, borrowed from environmental epidemiology, for studying it. We distinguish ambient AI exposure -- algorithmic curation and AI-mediated institutional decisions that affect populations regardless of individual choice -- from personal AI exposure -- direct, volitional use of AI tools. We characterize AI's possible causal roles in epidemiological models, show that existing experimental approaches are inadequate for capturing chronic, population-level effects, and illustrate these ideas with nationally representative US survey data. We discuss implications for study design, health equity, and AI governance.

The science of networks has revolutionised research into the dynamics of interacting elements. It could be argued that epidemiology in particular has embraced the potential of network theory more than any other discipline. Here we review the growing body of research concerning the spread of infectious diseases on networks, focusing on the interplay between network theory and epidemiology. The review is split into four main sections, which examine: the types of network relevant to epidemiology; the multitude of ways these networks can be characterised; the statistical methods that can be applied to infer the epidemiological parameters on a realised network; and finally simulation and analytical methods to determine epidemic dynamics on a given network. Given the breadth of areas covered and the ever-expanding number of publications, a comprehensive review of all work is impossible. Instead, we provide a personalised overview into the areas of network epidemiology that have seen the greatest progress in recent years or have the greatest potential to provide novel insights. As such, considerable importance is placed on analytical approaches and statistical methods which are both rapid