Nosology

There is a lot of conceptual engineering going on in medical research. I substantiate this claim with two examples, the medical debate about cancer classification and about obesity as a disease I also argue that the proper target of conceptual engineering in medical research are experts’ conceptions. These are explicitly written down in documents and guidelines, and they bear on research and policies. In the second part of the chapter, I propose an externalist framework in which conceptions have both the (...) explanatory power of psychological concepts and that of semantic concepts. It is likely, however, that human activities and practices distinct from medical research, and regulated by different practices and epistemic rules, call for different targets for conceptual engineering. I conclude with indicating an open agenda of problems for philosophers of medicine interested in conceptual engineering. (shrink)

The diagnostic category of borderline personality disorder (BPD) has come under increasing criticism in recent years. In this paper, we analyze the role and impact of epistemic injustice, specifically testimonial injustice, in relation to the diagnosis of BPD. We first offer a critical sociological and historical account, detailing and expanding a range of arguments that BPD is problematic nosologically. We then turn to explore the epistemic injustices that can result from a BPD diagnosis, showing how they can lead to experiences (...) of testimonial injustice which impede patient engagement in meaning-making activities, thereby undermining standard therapeutic goals. We conclude by showing how our arguments bolster ongoing efforts to replace the diagnostic category of BPD with alternatives such as complex post-traumatic stress disorder. (shrink)

Are psychiatric disorders natural kinds? This question has received a lot of attention within present-day philosophy of psychiatry, where many authors debate the ontology and nature of mental disorders. Similarly, historians of psychiatry, dating back to Foucault, have debated whether psychiatric researchers conceived of mental disorders as natural kinds or not. However, historians of psychiatry have paid little to no attention to the influence of (a) theories within logic, and (b) theories within metaphysics on psychiatric accounts of proper method, and (...) on accounts of the nature and classification of mental disorders. Historically, however, logic and metaphysics have extensively shaped methods and interpretations of classifications in the natural sciences. This paper corrects this lacuna in the history of psychiatry, and demonstrates that theories within logic and metaphysics, articulated by Christian Wolff (1679-1754), have significantly shaped the conception of medical method and (psychiatric) nosology of the influential nosologist Boissier De Sauvages (1706-1767). After treating Sauvages, I discuss the method of the influential nosologist William Cullen (1710-1790), and demonstrate the continuity between the classificatory methods of Sauvages and Cullen. I show that both Sauvages and Cullen were essentialists concerning medical diseases in general and psychiatric disorders in particular, contributing to the history of conceptions of the ontology and nature of mental disorders. (shrink)

Automatic detection of diseases and anatomical landmarks in medical images by the use of computers is important and considered a challenging process that could help medical diagnosis and reduce the cost and time of investigational procedures and refine health care systems all over the world. Recently, gastrointestinal (GI) tract disease diagnosis through endoscopic image classification is an active research area in the biomedical field. Several GI tract disease classification methods based on image processing and machine learning techniques have been proposed (...) by diverse research groups in the recent past. However, yet effective and comprehensive deep ensemble neural network-based classification model with high accuracy classification results is not available in the literature. In this thesis, we review ways and mechanisms to use deep learning techniques to research on multi-disease computer-aided detection about gastrointestinal and identify these images. We re-trained five state-of-the-art neural network architectures, VGG16, ResNet, MobileNet, Inception-v3, and Xception on the Kvasir dataset to classify eight categories that include an anatomical landmark (pylorus, z-line, cecum), a diseased state (esophagitis, ulcerative colitis, polyps), or a medical procedure (dyed lifted polyps, dyed resection margins) in the Gastrointestinal Tract. Our models have showed results with a promising accuracy which is a remarkable performance with respect to the state-of-the-art approaches. The resulting accuracies achieved using VGG, ResNet, MobileNet, Inception-v3, and Xception were 98.3%, 92.3%, 97.6%, 90% and 98.2%, respectively. As it appears, the most accurate result has been achieved when retraining VGG16 and Xception neural networks with accuracy reache to 98% due to its high performance on training on ImageNet dataset and internal structure that support classification problems. (shrink)

This paper asks when a natural disease kind is truly 'reactive' and when it is merely associated with a corresponding social kind. I begin with a permissive account of real kinds and their structure, distinguishing natural kinds, indifferent kinds and reactive kinds as varieties of real kind characterised by super-explanatory properties. I then situate disease kinds within this framework, arguing that many disease kinds prima facie are both natural and reactive. I proceed to distinguish ‘simple dependence’, ‘secondary dependence’ and ‘essential (...) dependence’ between a natural kind and its classification, and argue that a natural kind is only really reactive, in an important sense, under conditions of essential dependence. On this basis, I offer a principled hypothesis for why psychiatric kinds tend to be more metaphysically unstable than paradigm somatic disease kinds. (shrink)

Marion Godman makes the argument that Pathological Withdrawal Syndrome (PWS) makes the case for psychiatric disorders as a natural kind. Godman argues that we can classify kinds according to their shared ‘grounding’, but we need not know what the grounding is to know that the natural is a natural kind. However, I argue that Godman erroneously classifies PWS as its own natural kind when it is in fact a variant of depression, which is its own natural kind. Cooper highlights culture-bound (...) syndromes, which can explain the discrepancy between the different diagnosis rates for psychiatric disorders among different cultures. Taking culture-bound syndromes into account, I conclude that PWS is a type of depression that is culture-specific. (shrink)

Brain-related diseases are among the most difficult diseases due to their sensitivity, the difficulty of performing operations, and their high costs. In contrast, the operation is not necessary to succeed, as the results of the operation may be unsuccessful. One of the most common diseases that affect the brain is Alzheimer’s disease, which affects adults, a disease that leads to memory loss and forgetting information in varying degrees. According to the condition of each patient. For these reasons, it is important (...) to classify memory loss and to know the patient at what level and his assessment of Alzheimer's disease through CT scans of the brain. In this thesis, we review ways and techniques to use deep learning classification to classifying the Alzheimer's Disease The proposed method used to improve patient care, reduce costs, and allow fast and reliable analysis in large studies. The model will be designed using Python language for implementing the system, which is very useful for doctors, classifying the Alzheimer's Disease, was used. The model used 70% from image for training and 30% from image for validation, our trained model achieved an accuracy of 100% on a held-out test set. (shrink)

The latest edition of the Diagnostic and Statistical Manual of Mental Disorders included the Social Communication Disorder as a new mental disorder characterized by deficits in pragmatic abilities. Although the introduction of SPCD in the psychiatry nosography depended on a variety of reasons—including bridging a nosological gap in the macro-category of Communication Disorders—in the last few years researchers have identified major issues in such revision. For instance, the symptomatology of SPCD is notably close to that of Autism Spectrum Disorder. This (...) opens up the possibility that individuals with very similar symptoms can be diagnosed differently and receive different clinical treatments and social support. The aim of this paper is to review recent debates on SPCD, particularly as regards its independence from ASD. In the first part, we outline the major aspects of the DSM-5 nosological revision involving ASD and SPCD. In the second part, we focus on the validity and reliability of SPCD. First, we analyze literature on three potential validators of SPCD, i.e., etiology, response to treatment, and measurability. Then, we turn to reliability issues connected with the introduction of the grandfather clause and the use of the concepts of spectrum and threshold in the definition of ASD. In the conclusion, we evaluate whether SPCD could play any role in contemporary psychiatry other than that of an independent mental disorder and discuss the role that non-epistemic factors could play in the delineation of the future psychiatry nosography. (shrink)

Contemporary psychiatry finds itself in the midst of a crisis of classification. The developments begun in the 1980s—with the third edition of the Diagnostic and Statistical Manual of Mental Disorders —successfully increased inter-rater reliability. However, these developments have done little to increase the predictive validity of our categories of disorder. A diagnosis based on DSM categories and criteria often fails to accurately anticipate course of illness or treatment response. In addition, there is little evidence that the DSM categories link up (...) with genetic findings, and even less evidence that they... (shrink)

Discussions of psychiatric nosology focus on a few popular examples of disorders, and on the validity of diagnostic criteria. Looking at Anorexia Nervosa, an example rarely mentioned in this literature, reveals a new problem: the DSM has a strict taxonomic structure, which assumes that disorders can only be located on one branch. This taxonomic assumption fails to fit the domain of psychopathology, resulting in obfuscation of cross-category connections. Poor outcomes for treatment of Anorexia may be due to it being pigeonholed (...) as an Eating Disorder, when a disturbance of body perception may be a more central symptom than food restriction. This paper explores the possibility of restructuring the DSM taxonomy to allow for a pluralist classification of disorders. This change could improve treatment and research without requiring any changes to diagnostic criteria. (shrink)

As it emerged from philosophical analyses and cognitive research, most concepts exhibit typicality effects, and resist to the efforts of defining them in terms of necessary and sufficient conditions. This holds also in the case of many medical concepts. This is a problem for the design of computer science ontologies, since knowledge representation formalisms commonly adopted in this field (such as, in the first place, the Web Ontology Language - OWL) do not allow for the representation of concepts in terms (...) of typical traits. The need of representing concepts in terms of typical traits concerns almost every domain of real world knowledge, including medical domains. In particular, in this article we take into account the domain of mental disorders, starting from the DSM-5 descriptions of some specific disorders. We favour a hybrid approach to concept representation, in which ontology oriented formalisms are combined to a geometric representation of knowledge based on conceptual space. As a preliminary step to apply our proposal to mental disorder concepts, we started to develop an OWL ontology of the schizophrenia spectrum, which is as close as possible to the DSM-5 descriptions. (shrink)

At present, psychiatric disorders are characterized descriptively, as the standard within the scientific community for communication and, to a certain extent, for diagnosis, is the DSM, now at its fifth edition. The main reasons for descriptivism are the aim of achieving reliability of diagnosis and improving communication in a situation of theoretical disagreement, and the Ignorance argument, which starts with acknowledgment of the relative failure of the project of finding biomarkers for most mental disorders. Descriptivism has also the advantage of (...) capturing the phenomenology of mental disorders, which appears to be essential for diagnosis, though not exhaustive of the nature of the disease. I argue that if we rely on the distinction between conceptions (procedures of identification) and concepts (reference-fixing representations), which was introduced in the philosophical debate on the nature of concepts, we may understand a limited but valid role for descriptive characterizations, and reply to common objections addressed by those who advocate a theoretically informed approach to nosology. (shrink)

Abstract: At present, psychiatric disorders are characterized descriptively, as the standard within the scientific community for communication and, to a cer- tain extent, for diagnosis, is the DSM, now at its fifth edition. The main rea- sons for descriptivism are the aim of achieving reliability of diagnosis and improving communication in a situation of theoretical disagreement, and the Ignorance argument, which starts with acknowledgment of the relative fail- ure of the project of finding biomarkers for most mental disorders. Descrip- tivism (...) has also the advantage of capturing the phenomenology of mental dis- orders, which appears to be essential for diagnosis, though not exhaustive of the nature of the disease. I argue that if we rely on the distinction between conceptions (procedures of identification) and concepts (reference-fixing representations), which was introduced in the philosophical debate on the nature of concepts, we may understand a limited but valid role for descrip- tive characterizations, and reply to common objections addressed by those who advocate a theoretically informed approach to nosology. (shrink)

In this volume, leading philosophers of psychiatry examine psychiatric classification systems, including the Diagnostic and Statistical Manual of Mental Disorders, asking whether current systems are sufficient for effective diagnosis, treatment, and research. Doing so, they take up the question of whether mental disorders are natural kinds, grounded in something in the outside world. Psychiatric categories based on natural kinds should group phenomena in such a way that they are subject to the same type of causal explanations and respond similarly to (...) the same type of causal interventions. When these categories do not evince such groupings, there is reason to revise existing classifications. The contributors all question current psychiatric classifications systems and the assumptions on which they are based. They differ, however, as to why and to what extent the categories are inadequate and how to address the problem. Topics discussed include taxometric methods for identifying natural kinds, the error and bias inherent in DSM categories, and the complexities involved in classifying such specific mental disorders as "oppositional defiance disorder" and pathological gambling. -/- Contributors George Graham, Nick Haslam, Allan Horwitz, Harold Kincaid, Dominic Murphy, Jeffrey Poland, Nancy Nyquist Potter, Don Ross, Dan Stein, Jacqueline Sullivan, Serife Tekin, Peter Zachar. (shrink)

The question of how psychiatric classifications are made up and to what they refer has attracted the attention of philosophers in recent years. In this paper, I review the claims of authors who discuss psychiatric classification in terms referring both to the philosophical tradition of natural kinds and to the sociological tradition of social constructionism — especially those of Ian Hacking and his critics. I examine both the ontological and the social aspects of what it means for something to be (...) a mental disorder, and how the ontological status of these disorders hinges on social causation. Finally, I conclude by suggesting a way in which the biological and the social may be reconciled in an integrative model of variation in psychiatric disorder. (shrink)

Identifying the necessary and sufficient conditions for individuating and classifying diseases is a matter of great importance in the fields of law, ethics, epidemiology, and of course, medicine. In this paper, I first propose a means of achieving this goal, ensuring that no two distinct disease-types could correctly be ascribed to the same disease-token. I then posit a metaphysical ontology of diseases—that is, I give an account of what a disease is. This is essential to providing the most effective means (...) of interfering with disease processes. Following existing work in the philosophy of medicine and epidemiology (primarily Christopher Boorse; Caroline Whitbeck; Alexander Broadbent), philosophy of biology (Joseph LaPorte; D.L. Hull), conditional analyses of causation (J.L. Mackie; David Lewis), and recent literature on dispositional essentialism (Stephen Mumford and Rani Anjum; Alexander Bird), I endorse a dispositional conception of disease. Following discussion of various conceptions of disease-identity, their relations to the clinical and pathological effects of the diseases in question, and how diseases are treated, I conclude (i) that diseases should be individuated by their causes, and (ii) that diseases are causal processes best seen as simultaneously acting sequences of mutually manifesting dispositions. (shrink)

The Neurological Disease Ontology (ND) is being developed to provide a comprehensive framework for the representation of neurological diseases (Diehl et al., 2013). ND utilizes the model established by the Ontology for General Medical Science (OGMS) for the representation of entities in medicine and disease (Scheuermann et al., 2009). The goal of ND is to include information for each disease concerning its molecular, genetic, and environmental origins, the processes involved in its etiology and realization, as well as its clinical presentation (...) including signs and symptoms. (shrink)

A repository of clinically associated Staphylococcus aureus (Sa) isolates is used to semi‐automatically generate a set of application ontologies for specific subfamilies of Sa‐related disease. Each such application ontology is compatible with the Infectious Disease Ontology (IDO) and uses resources from the Open Biomedical Ontology (OBO) Foundry. The set of application ontologies forms a lattice structure beneath the IDO‐Core and IDO‐extension reference ontologies. We show how this lattice can be used to define a strategy for the construction of a new (...) taxonomy of infectious disease incorporating genetic, molecular, and clinical data. We also outline how faceted browsing and query of annotated data is supported using a lattice application ontology. (shrink)

In psychiatry some disorders of cognition are distinguished from instances of normal cognitive functioning and from other disorders in virtue of their surface features rather than in virtue of the underlying mechanisms responsible for their occurrence. Aetiological considerations often cannot play a significant classificatory and diagnostic role, because there is no sufficient knowledge or consensus about the causal history of many psychiatric disorders. Moreover, it is not always possible to uniquely identify a pathological behaviour as the symptom of a certain (...) disorder, as disorders that are likely to differ both in their causal histories and in their overall manifestations may give rise to very similar patterns of behaviour. -/- Consider delusions as an example. It wouldn’t be correct to define delusions as those beliefs people form as a result of a neurobiological deficit and a hypothesis-evaluation deficit (as some versions of the two-factor theory of delusions suggest), because for some delusions no neurobiological deficit may be found, and reasoning biases and motivational factors may be contributors to the formation of the delusion (e.g. McKay et al., 2005). Moreover, it would be a mistake to define delusions as symptoms of schizophrenia alone, because they occur also in other disorders, including dementia, amnesia, and delusional disorders. Thus, aetiological considerations may appear in the description and analysis of delusions, but do not feature prominently in their definition. -/- In this paper I argue that the surface features used as criteria for the classification and diagnosis of disorders of cognition are often epistemic in character. I shall offer two examples: confabulations and delusions are defined as beliefs or narratives that fail to meet standards of accuracy and justification. Although classifications and diagnoses based on features of people’s observable behaviour are necessary at these early stages of neuropsychiatric research, given the variety of conditions in which certain phenomena appear, I shall attempt to show that current epistemic accounts of confabulations and delusions have limitations. Epistemic criteria can guide both research and clinical practice, but fail to provide sufficient conditions for the identification of delusions and confabulations, and fail to demarcate pathological from non-pathological narratives or beliefs. -/- Another limitation of current epistemic accounts – which I shall not address here – is the excessive focus on epistemic faults of confabulations and delusions at the expense of their epistemically neutral or advantageous features (see Bortolotti and Cox, 2009). This may lead to a misconception of delusions and confabulations, and to an oversimplification in the assessment of the needs of people who require clinical treatment for their psychotic symptoms. (shrink)

While classifications of mental disorders have existed for over one hundred years, it still remains unspecified what terms such as 'mental disorder', 'disease' and 'illness' might actually denote. While ontologies have been called in aid to address this shortfall since the GALEN project of the early 1990s, most attempts thus far have sought to provide a formal description of the structure of some pre-existing terminology or classification, rather than of the corresponding structures and processes on the side of the patient. (...) We here present a view of mental disease that is based on ontological realism and which follows the principles embodied in Basic Formal Ontology and in the application of BFO in the Ontology of General Medical Science. We analyzed statements about what counts as a mental disease provided in the research agenda for the DSM-V, and in Pies' model. The results were used to assess whether the representational units of BFO and OGMS were adequate as foundations for a formal representation of the entities in reality that these statements attempt to describe. We then analyzed the representational units specific to mental disease and provided corresponding definitions. Our key contributions lie in the identification of confusions and conflations in the existing terminology of mental disease and in providing what we believe is a framework for the sort of clear and unambiguous reference to entities on the side of the patient that is needed in order to avoid these confusions in the future. (shrink)

Technological developments have resulted in tremendous increases in the volume and diversity of the data and information that must be processed in the course of biomedical and clinical research and practice. Researchers are at the same time under ever greater pressure to share data and to take steps to ensure that data resources are interoperable. The use of ontologies to annotate data has proven successful in supporting these goals and in providing new possibilities for the automated processing of data and (...) information. In this chapter, we describe different types of vocabulary resources and emphasize those features of formal ontologies that make them most useful for computational applications. We describe current uses of ontologies and discuss future goals for ontology-based computing, focusing on its use in the field of infectious diseases. We review the largest and most widely used vocabulary resources relevant to the study of infectious diseases and conclude with a description of the Infectious Disease Ontology (IDO) suite of interoperable ontology modules that together cover the entire infectious disease domain. (shrink)