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Detecting neurodevelopmental trajectories in congenital heart diseases with a machine-learning approach.

ABSTRACT: We aimed to delineate the neuropsychological and psychopathological profiles of children with congenital heart disease (CHD) and look for associations with clinical parameters. We conducted a prospective observational study in children with CHD who underwent cardiac surgery within five years of age. At least 18 months after cardiac surgery, we performed an extensive neuropsychological (intelligence, language, attention, executive function, memory, social skills) and psychopathological assessment, implementing a machine-learning approach for clustering and influencing variable classification. We examined 74 children (37 with CHD and 37 age-matched controls). Group comparisons have shown differences in many domains: intelligence, language, executive skills, and memory. From CHD questionnaires, we identified two clinical subtypes of psychopathological profiles: a small subgroup with high symptoms of psychopathology and a wider subgroup of patients with ADHD-like profiles. No associations with the considered clinical parameters were found. CHD patients are prone to high interindividual variability in neuropsychological and psychological outcomes, depending on many factors that are difficult to control and study. Unfortunately, these dysfunctions are under-recognized by clinicians. Given that brain maturation continues through childhood, providing a significant window for recovery, there is a need for a lifespan approach to optimize the outcome trajectory for patients with CHD.

SUBMITTER: Cainelli E

PROVIDER: S-EPMC7843636 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Detecting neurodevelopmental trajectories in congenital heart diseases with a machine-learning approach.

Cainelli Elisa E Bisiacchi Patrizia S PS Cogo Paola P Padalino Massimo M Simonato Manuela M Vergine Michela M Lanera Corrado C Vedovelli Luca L

Scientific reports 20210128 1

We aimed to delineate the neuropsychological and psychopathological profiles of children with congenital heart disease (CHD) and look for associations with clinical parameters. We conducted a prospective observational study in children with CHD who underwent cardiac surgery within five years of age. At least 18 months after cardiac surgery, we performed an extensive neuropsychological (intelligence, language, attention, executive function, memory, social skills) and psychopathological assessment ...[more]

PMID: 33510389

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Project description:Objective: Congenital heart diseases (CHDs) are associated with an extremely heavy global disease burden as the most common category of birth defects. Genetic and environmental factors have been identified as risk factors of CHDs previously. However, high volume clinical indicators have never been considered when predicting CHDs. This study aimed to predict the occurrence of CHDs by considering thousands of variables from self-reported questionnaires and routinely collected clinical laboratory data using machine learning algorithms. Methods: We conducted a birth cohort study at one of the largest cardiac centers in China from 2011 to 2017. All fetuses were screened for CHDs using ultrasound and cases were confirmed by at least two pediatric cardiologists using echocardiogram. A total of 1,127 potential predictors were included to predict CHDs. We used the Explainable Boosting Machine (EBM) for prediction and evaluated the model performance using area under the Receive Operating Characteristics (ROC) curves (AUC). The top predictors were selected according to their contributions and predictive values. Thresholds were calculated for the most significant predictors. Results: Overall, 5,390 mother-child pairs were recruited. Our prediction model achieved an AUC of 76% (69-83%) from out-of-sample predictions. Among the top 35 predictors of CHDs we identified, 34 were from clinical laboratory tests and only one was from the questionnaire (abortion history). Total accuracy, sensitivity, and specificity were 0.65, 0.74, and 0.65, respectively. Maternal serum uric acid (UA), glucose, and coagulation levels were the most consistent and significant predictors of CHDs. According to the thresholds of the predictors identified in our study, which did not reach the current clinical diagnosis criteria, elevated UA (>4.38 mg/dl), shortened activated partial thromboplastin time (<33.33 s), and elevated glucose levels were the most important predictors and were associated with ranges of 1.17-1.54 relative risks of CHDs. We have developed an online predictive tool for CHDs based on our findings that may help screening and prevention of CHDs. Conclusions: Maternal UA, glucose, and coagulation levels were the most consistent and significant predictors of CHDs. Thresholds below the current clinical definition of "abnormal" for these predictors could be used to help develop CHD screening and prevention strategies.

Project description:BackgroundResearch has repeatedly shown that exposure to suicide-related news media content is associated with suicide rates, with some content characteristics likely having harmful and others potentially protective effects. Although good evidence exists for a few selected characteristics, systematic and large-scale investigations are lacking. Moreover, the growing importance of social media, particularly among young adults, calls for studies on the effects of the content posted on these platforms.ObjectiveThis study applies natural language processing and machine learning methods to classify large quantities of social media data according to characteristics identified as potentially harmful or beneficial in media effects research on suicide and prevention.MethodsWe manually labeled 3202 English tweets using a novel annotation scheme that classifies suicide-related tweets into 12 categories. Based on these categories, we trained a benchmark of machine learning models for a multiclass and a binary classification task. As models, we included a majority classifier, an approach based on word frequency (term frequency-inverse document frequency with a linear support vector machine) and 2 state-of-the-art deep learning models (Bidirectional Encoder Representations from Transformers [BERT] and XLNet). The first task classified posts into 6 main content categories, which are particularly relevant for suicide prevention based on previous evidence. These included personal stories of either suicidal ideation and attempts or coping and recovery, calls for action intending to spread either problem awareness or prevention-related information, reporting of suicide cases, and other tweets irrelevant to these 5 categories. The second classification task was binary and separated posts in the 11 categories referring to actual suicide from posts in the off-topic category, which use suicide-related terms in another meaning or context.ResultsIn both tasks, the performance of the 2 deep learning models was very similar and better than that of the majority or the word frequency classifier. BERT and XLNet reached accuracy scores above 73% on average across the 6 main categories in the test set and F1-scores between 0.69 and 0.85 for all but the suicidal ideation and attempts category (F1=0.55). In the binary classification task, they correctly labeled around 88% of the tweets as about suicide versus off-topic, with BERT achieving F1-scores of 0.93 and 0.74, respectively. These classification performances were similar to human performance in most cases and were comparable with state-of-the-art models on similar tasks.ConclusionsThe achieved performance scores highlight machine learning as a useful tool for media effects research on suicide. The clear advantage of BERT and XLNet suggests that there is crucial information about meaning in the context of words beyond mere word frequencies in tweets about suicide. By making data labeling more efficient, this work has enabled large-scale investigations on harmful and protective associations of social media content with suicide rates and help-seeking behavior.

Project description:The relationship between increased cerebral spinal fluid (CSF) ventricular compartments, structural and microstructural dysmaturation, and executive function in patients with congenital heart disease (CHD) is unknown. Here, we leverage a novel machine-learning data-driven technique to delineate interrelationships between CSF ventricular volume, structural and microstructural alterations, clinical risk factors, and sub-domains of executive dysfunction in adolescent CHD patients. We trained random forest regression models to predict measures of executive function (EF) from the NIH Toolbox, the Delis-Kaplan Executive Function System (D-KEFS), and the Behavior Rating Inventory of Executive Function (BRIEF) and across three subdomains of EF - mental flexibility, working memory, and inhibition. We estimated the best parameters for the random forest algorithm via a randomized grid search of parameters using 10-fold cross-validation on the training set only. The best parameters were then used to fit the model on the full training set and validated on the test set. Algorithm performance was measured using root-mean squared-error (RMSE). As predictors, we included patient clinical variables, perioperative clinical measures, microstructural white matter (diffusion tensor imaging- DTI), and structural volumes (volumetric magnetic resonance imaging- MRI). Structural white matter was measured using along-tract diffusivity measures of 13 inter-hemispheric and cortico-association fibers. Structural volumes were measured using FreeSurfer and manual segmentation of key structures. Variable importance was measured by the average Gini-impurity of each feature across all decision trees in which that feature is present in the model, and functional ontology mapping (FOM) was used to measure the degree of overlap in feature importance for each EF subdomain and across subdomains. We found that CSF structural properties (including increased lateral ventricular volume and reduced choroid plexus volumes) in conjunction with proximate cortical projection and paralimbic-related association white matter tracts that straddle the lateral ventricles and distal paralimbic-related subcortical structures (basal ganglia, hippocampus, cerebellum) are predictive of two-specific subdomains of executive dysfunction in CHD patients: cognitive flexibility and inhibition. These findings in conjunction with combined RF models that incorporated clinical risk factors, highlighted important clinical risk factors, including the presence of microbleeds, altered vessel volume, and delayed PDA closure, suggesting that CSF-interstitial fluid clearance, vascular pulsatility, and glymphatic microfluid dynamics may be pathways that are impaired in CHD, providing mechanistic information about the relationship between CSF and executive dysfunction.

Project description:To generate a parsimonious gene set for understanding the mechanisms underlying complex diseases, we reasoned it was necessary to combine the curation of public literature, review of experimental databases and interpolation of pathway-associated genes. Using this strategy, we previously built the following two databases for reproductive disorders: The Database for Preterm Birth (dbPTB) and The Database for Preeclampsia (dbPEC). The completeness and accuracy of these databases is essential for supporting our understanding of these complex conditions. Given the exponential increase in biomedical literature, it is becoming increasingly difficult to manually maintain these databases. Using our curated databases as reference data sets, we implemented a machine learning-based approach to optimize article selection for manual curation. We used logistic regression, random forests and neural networks as our machine learning algorithms to classify articles. We examined features derived from abstract text, annotations and metadata that we hypothesized would best classify articles with genetically relevant content associated to the disorder of interest. Combinations of these features were used build the classifiers and the performance of these feature sets were compared to a standard 'Bag-of-Words'. Several combinations of these genetic based feature sets outperformed 'Bag-of-Words' at a threshold such that 95% of the curated gene set obtained from the original manual curation of all articles were extracted from the articles classified by machine learning as 'considered'. The performance was superior in terms of the reduction of required manual curation and two measures of the harmonic mean of precision and recall. The reduction in workload ranged from 0.814 to 0.846 for the dbPTB and 0.301 to 0.371 for the dbPEC. Additionally, a database of metadata and annotations is generated which allows for rapid query of individual features. Our results demonstrate that machine learning algorithms can identify articles with relevant data for databases of genes associated with complex diseases.

Dataset Information

Detecting neurodevelopmental trajectories in congenital heart diseases with a machine-learning approach.

Publications

Detecting neurodevelopmental trajectories in congenital heart diseases with a machine-learning approach.

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