Machine learning for modeling the progression of Alzheimer disease dementia using clinical data: a systematic literature review.
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ABSTRACT: Objective
Alzheimer disease (AD) is the most common cause of dementia, a syndrome characterized by cognitive impairment severe enough to interfere with activities of daily life. We aimed to conduct a systematic literature review (SLR) of studies that applied machine learning (ML) methods to clinical data derived from electronic health records in order to model risk for progression of AD dementia.Materials and methods
We searched for articles published between January 1, 2010, and May 31, 2020, in PubMed, Scopus, ScienceDirect, IEEE Explore Digital Library, Association for Computing Machinery Digital Library, and arXiv. We used predefined criteria to select relevant articles and summarized them according to key components of ML analysis such as data characteristics, computational algorithms, and research focus.Results
There has been a considerable rise over the past 5 years in the number of research papers using ML-based analysis for AD dementia modeling. We reviewed 64 relevant articles in our SLR. The results suggest that majority of existing research has focused on predicting progression of AD dementia using publicly available datasets containing both neuroimaging and clinical data (neurobehavioral status exam scores, patient demographics, neuroimaging data, and laboratory test values).Discussion
Identifying individuals at risk for progression of AD dementia could potentially help to personalize disease management to plan future care. Clinical data consisting of both structured data tables and clinical notes can be effectively used in ML-based approaches to model risk for AD dementia progression. Data sharing and reproducibility of results can enhance the impact, adaptation, and generalizability of this research.
SUBMITTER: Kumar S
PROVIDER: S-EPMC8327375 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:Clinical narratives represent the main form of communication within health care, providing a personalized account of patient history and assessments, and offering rich information for clinical decision making. Natural language processing (NLP) has repeatedly demonstrated its feasibility to unlock evidence buried in clinical narratives. Machine learning can facilitate rapid development of NLP tools by leveraging large amounts of text data. OBJECTIVE:The main aim of this study was to provide systematic evidence on the properties of text data used to train machine learning approaches to clinical NLP. We also investigated the types of NLP tasks that have been supported by machine learning and how they can be applied in clinical practice. METHODS:Our methodology was based on the guidelines for performing systematic reviews. In August 2018, we used PubMed, a multifaceted interface, to perform a literature search against MEDLINE. We identified 110 relevant studies and extracted information about text data used to support machine learning, NLP tasks supported, and their clinical applications. The data properties considered included their size, provenance, collection methods, annotation, and any relevant statistics. RESULTS:The majority of datasets used to train machine learning models included only hundreds or thousands of documents. Only 10 studies used tens of thousands of documents, with a handful of studies utilizing more. Relatively small datasets were utilized for training even when much larger datasets were available. The main reason for such poor data utilization is the annotation bottleneck faced by supervised machine learning algorithms. Active learning was explored to iteratively sample a subset of data for manual annotation as a strategy for minimizing the annotation effort while maximizing the predictive performance of the model. Supervised learning was successfully used where clinical codes integrated with free-text notes into electronic health records were utilized as class labels. Similarly, distant supervision was used to utilize an existing knowledge base to automatically annotate raw text. Where manual annotation was unavoidable, crowdsourcing was explored, but it remains unsuitable because of the sensitive nature of data considered. Besides the small volume, training data were typically sourced from a small number of institutions, thus offering no hard evidence about the transferability of machine learning models. The majority of studies focused on text classification. Most commonly, the classification results were used to support phenotyping, prognosis, care improvement, resource management, and surveillance. CONCLUSIONS:We identified the data annotation bottleneck as one of the key obstacles to machine learning approaches in clinical NLP. Active learning and distant supervision were explored as a way of saving the annotation efforts. Future research in this field would benefit from alternatives such as data augmentation and transfer learning, or unsupervised learning, which do not require data annotation.
| S-EPMC7157505 | biostudies-literature
Project description:BackgroundDementia is a complex disorder characterized by poor outcomes for the patients and high costs of care. After decades of research little is known about its mechanisms. Having prognostic estimates about dementia can help researchers, patients and public entities in dealing with this disorder. Thus, health data, machine learning and microsimulation techniques could be employed in developing prognostic estimates for dementia.ObjectiveThe goal of this paper is to present evidence on the state of the art of studies investigating and the prognosis of dementia using machine learning and microsimulation techniques.MethodTo achieve our goal we carried out a systematic literature review, in which three large databases-Pubmed, Socups and Web of Science were searched to select studies that employed machine learning or microsimulation techniques for the prognosis of dementia. A single backward snowballing was done to identify further studies. A quality checklist was also employed to assess the quality of the evidence presented by the selected studies, and low quality studies were removed. Finally, data from the final set of studies were extracted in summary tables.ResultsIn total 37 papers were included. The data summary results showed that the current research is focused on the investigation of the patients with mild cognitive impairment that will evolve to Alzheimer's disease, using machine learning techniques. Microsimulation studies were concerned with cost estimation and had a populational focus. Neuroimaging was the most commonly used variable.ConclusionsPrediction of conversion from MCI to AD is the dominant theme in the selected studies. Most studies used ML techniques on Neuroimaging data. Only a few data sources have been recruited by most studies and the ADNI database is the one most commonly used. Only two studies have investigated the prediction of epidemiological aspects of Dementia using either ML or MS techniques. Finally, care should be taken when interpreting the reported accuracy of ML techniques, given studies' different contexts.
| S-EPMC5491044 | biostudies-literature
Project description:ImportancePredictive models using machine learning techniques have potential to improve early detection and management of Alzheimer disease (AD). However, these models potentially have biases and may perpetuate or exacerbate existing disparities.ObjectiveTo characterize the algorithmic fairness of longitudinal prediction models for AD progression.Design, setting, and participantsThis prognostic study investigated the algorithmic fairness of logistic regression, support vector machines, and recurrent neural networks for predicting progression to mild cognitive impairment (MCI) and AD using data from participants in the Alzheimer Disease Neuroimaging Initiative evaluated at 57 sites in the US and Canada. Participants aged 54 to 91 years who contributed data on at least 2 visits between September 2005 and May 2017 were included. Data were analyzed in October 2022.ExposuresFairness was quantified across sex, ethnicity, and race groups. Neuropsychological test scores, anatomical features from T1 magnetic resonance imaging, measures extracted from positron emission tomography, and cerebrospinal fluid biomarkers were included as predictors.Main outcomes and measuresOutcome measures quantified fairness of prediction models (logistic regression [LR], support vector machine [SVM], and recurrent neural network [RNN] models), including equal opportunity, equalized odds, and demographic parity. Specifically, if the model exhibited equal sensitivity for all groups, it aligned with the principle of equal opportunity, indicating fairness in predictive performance.ResultsA total of 1730 participants in the cohort (mean [SD] age, 73.81 [6.92] years; 776 females [44.9%]; 69 Hispanic [4.0%] and 1661 non-Hispanic [96.0%]; 29 Asian [1.7%], 77 Black [4.5%], 1599 White [92.4%], and 25 other race [1.4%]) were included. Sensitivity for predicting progression to MCI and AD was lower for Hispanic participants compared with non-Hispanic participants; the difference (SD) in true positive rate ranged from 20.9% (5.5%) for the RNN model to 27.8% (9.8%) for the SVM model in MCI and 24.1% (5.4%) for the RNN model to 48.2% (17.3%) for the LR model in AD. Sensitivity was similarly lower for Black and Asian participants compared with non-Hispanic White participants; for example, the difference (SD) in AD true positive rate was 14.5% (51.6%) in the LR model, 12.3% (35.1%) in the SVM model, and 28.4% (16.8%) in the RNN model for Black vs White participants, and the difference (SD) in MCI true positive rate was 25.6% (13.1%) in the LR model, 24.3% (13.1%) in the SVM model, and 6.8% (18.7%) in the RNN model for Asian vs White participants. Models generally satisfied metrics of fairness with respect to sex, with no significant differences by group, except for cognitively normal (CN)-MCI and MCI-AD transitions (eg, an absolute increase [SD] in the true positive rate of CN-MCI transitions of 10.3% [27.8%] for the LR model).Conclusions and relevanceIn this study, models were accurate in aggregate but failed to satisfy fairness metrics. These findings suggest that fairness should be considered in the development and use of machine learning models for AD progression.
| S-EPMC10630899 | biostudies-literature
Project description:ObjectiveUser-generated content (UGC) in online environments provides opportunities to learn an individual's health status outside of clinical settings. However, the nature of UGC brings challenges in both data collecting and processing. The purpose of this study is to systematically review the effectiveness of applying machine learning (ML) methodologies to UGC for personal health investigations.Materials and methodsWe searched PubMed, Web of Science, IEEE Library, ACM library, AAAI library, and the ACL anthology. We focused on research articles that were published in English and in peer-reviewed journals or conference proceedings between 2010 and 2018. Publications that applied ML to UGC with a focus on personal health were identified for further systematic review.ResultsWe identified 103 eligible studies which we summarized with respect to 5 research categories, 3 data collection strategies, 3 gold standard dataset creation methods, and 4 types of features applied in ML models. Popular off-the-shelf ML models were logistic regression (n = 22), support vector machines (n = 18), naive Bayes (n = 17), ensemble learning (n = 12), and deep learning (n = 11). The most investigated problems were mental health (n = 39) and cancer (n = 15). Common health-related aspects extracted from UGC were treatment experience, sentiments and emotions, coping strategies, and social support.ConclusionsThe systematic review indicated that ML can be effectively applied to UGC in facilitating the description and inference of personal health. Future research needs to focus on mitigating bias introduced when building study cohorts, creating features from free text, improving clinical creditability of UGC, and model interpretability.
| S-EPMC7647332 | biostudies-literature
Project description:Although a variety of brain lesions may contribute to the pathological assessment of dementia, the relationship of these lesions to dementia, how they interact and how to quantify them remains uncertain. Systematically assessing neuropathological measures by their degree of association with dementia may lead to better diagnostic systems and treatment targets. This study aims to apply machine learning approaches to feature selection in order to identify critical features of Alzheimer-related pathologies associated with dementia. We applied machine learning techniques for feature ranking and classification to objectively compare neuropathological features and their relationship to dementia status during life using a cohort (n=186) from the Cognitive Function and Ageing Study (CFAS). We first tested Alzheimer's Disease and tau markers and then other neuropathologies associated with dementia. Seven feature ranking methods using different information criteria consistently ranked 22 out of the 34 neuropathology features for importance to dementia classification. Although highly correlated, Braak neurofibrillary tangle stage, beta-amyloid and cerebral amyloid angiopathy features were ranked the highest. The best-performing dementia classifier using the top eight neuropathological features achieved 79% sensitivity, 69% specificity and 75% precision. However, when assessing all seven classifiers and the 22 ranked features, a substantial proportion (40.4%) of dementia cases was consistently misclassified. These results highlight the benefits of using machine learning to identify critical indices of plaque, tangle and cerebral amyloid angiopathy burdens that may be useful for classifying dementia.
| S-EPMC9999590 | biostudies-literature
Project description:ObjectivesGeriatric clinical care is a multidisciplinary assessment designed to evaluate older patients' (age 65 years and above) functional ability, physical health, and cognitive well-being. The majority of these patients suffer from multiple chronic conditions and require special attention. Recently, hospitals utilize various artificial intelligence (AI) systems to improve care for elderly patients. The purpose of this systematic literature review is to understand the current use of AI systems, particularly machine learning (ML), in geriatric clinical care for chronic diseases.Materials and methodsWe restricted our search to eight databases, namely PubMed, WorldCat, MEDLINE, ProQuest, ScienceDirect, SpringerLink, Wiley, and ERIC, to analyze research articles published in English between January 2010 and June 2019. We focused on studies that used ML algorithms in the care of geriatrics patients with chronic conditions.ResultsWe identified 35 eligible studies and classified in three groups: psychological disorder (n = 22), eye diseases (n = 6), and others (n = 7). This review identified the lack of standardized ML evaluation metrics and the need for data governance specific to health care applications.ConclusionMore studies and ML standardization tailored to health care applications are required to confirm whether ML could aid in improving geriatric clinical care.
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Project description:Knee osteoarthritis (OA) is the most common musculoskeletal disease without a cure, and current treatment options are limited to symptomatic relief. Prediction of OA progression is a very challenging and timely issue, and it could, if resolved, accelerate the disease modifying drug development and ultimately help to prevent millions of total joint replacement surgeries performed annually. Here, we present a multi-modal machine learning-based OA progression prediction model that utilises raw radiographic data, clinical examination results and previous medical history of the patient. We validated this approach on an independent test set of 3,918 knee images from 2,129 subjects. Our method yielded area under the ROC curve (AUC) of 0.79 (0.78-0.81) and Average Precision (AP) of 0.68 (0.66-0.70). In contrast, a reference approach, based on logistic regression, yielded AUC of 0.75 (0.74-0.77) and AP of 0.62 (0.60-0.64). The proposed method could significantly improve the subject selection process for OA drug-development trials and help the development of personalised therapeutic plans.
| S-EPMC6934728 | biostudies-literature
Project description:Data collected from clinical trials and cohort studies, such as dementia studies, are often high-dimensional, censored, heterogeneous and contain missing information, presenting challenges to traditional statistical analysis. There is an urgent need for methods that can overcome these challenges to model this complex data. At present there is no cure for dementia and no treatment that can successfully change the course of the disease. Machine learning models that can predict the time until a patient develops dementia are important tools in helping understand dementia risks and can give more accurate results than traditional statistical methods when modelling high-dimensional, heterogeneous, clinical data. This work compares the performance and stability of ten machine learning algorithms, combined with eight feature selection methods, capable of performing survival analysis of high-dimensional, heterogeneous, clinical data. We developed models that predict survival to dementia using baseline data from two different studies. The Sydney Memory and Ageing Study (MAS) is a longitudinal cohort study of 1037 participants, aged 70-90 years, that aims to determine the effects of ageing on cognition. The Alzheimer's Disease Neuroimaging Initiative (ADNI) is a longitudinal study aimed at identifying biomarkers for the early detection and tracking of Alzheimer's disease. Using the concordance index as a measure of performance, our models achieve maximum performance values of 0.82 for MAS and 0.93 For ADNI.
| S-EPMC7683682 | biostudies-literature
Project description:The nested data structure is prevalent for cognitive measure experiments due to repeatedly taken observations from different brain locations within subjects. The analysis methods used for this data type should consider the dependency structure among the repeated measurements. However, the dependency assumption is mainly ignored in the cognitive neuroscience data analysis literature. We consider both statistical, and machine learning methods extended to repeated data analysis and compare distinct algorithms in terms of their advantage and disadvantages. Unlike basic algorithm comparison studies, this article analyzes novel neuroscience data considering the dependency structure for the first time with several statistical and machine learning methods and their hybrid forms. In addition, the fitting performances of different algorithms are compared using contaminated data sets, and the cross-validation approach. One of our findings suggests that the GLMM tree, including random term indices indicating the location of functional near-infrared spectroscopy optodes nested within experimental units, shows the best predictive performance with the lowest MSE, RMSE, and MAE model performance metrics. However, there is a trade-off between accuracy and speed since this algorithm is required the highest computational time.
| S-EPMC11018039 | biostudies-literature
Project description:Background: The characterizing symptom of Alzheimer disease (AD) is cognitive deterioration. While much recent work has focused on defining AD as a biological construct, most patients are still diagnosed, staged, and treated based on their cognitive symptoms. But the cognitive capability of a patient at any time throughout this deterioration reflects not only the disease state, but also the effect of the cognitive decline on the patient's pre-disease cognitive capability. Patients with high pre-disease cognitive capabilities tend to score better on cognitive tests that are sensitive early in disease relative to patients with low pre-disease cognitive capabilities at a similar disease stage. Thus, a single assessment with a cognitive test is often not adequate for determining the stage of an AD patient. Repeated evaluation of patients' cognition over time may improve the ability to stage AD patients, and such longitudinal assessments in combinations with biomarker assessments can help elucidate the time dynamics of biomarkers. In turn, this can potentially lead to identification of markers that are predictive of disease stage and future cognitive decline, possibly before any cognitive deficit is measurable. Methods and Findings: This article presents a class of statistical disease progression models and applies them to longitudinal cognitive scores. These non-linear mixed-effects disease progression models explicitly model disease stage, baseline cognition, and the patients' individual changes in cognitive ability as latent variables. Maximum-likelihood estimation in these models induces a data-driven criterion for separating disease progression and baseline cognition. Applied to data from the Alzheimer's Disease Neuroimaging Initiative, the model estimated a timeline of cognitive decline that spans ~15 years from the earliest subjective cognitive deficits to severe AD dementia. Subsequent analyses demonstrated how direct modeling of latent factors that modify the observed data patterns provides a scaffold for understanding disease progression, biomarkers, and treatment effects along the continuous time progression of disease. Conclusions: The presented framework enables direct interpretations of factors that modify cognitive decline. The results give new insights to the value of biomarkers for staging patients and suggest alternative explanations for previous findings related to accelerated cognitive decline among highly educated patients and patients on symptomatic treatments.
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