Unlike Mendelian epilepsies, complex epilepsies may be due to the effect of several or multiple susceptibility genes. Association studies have been used in the past decade to help identify common genetic variants underpinning complex epilepsies. However, as the data in the Epilepsy Genetic Association Database (epiGAD) show, many of these studies have been negative, or have shown confl icting results. Overall, most putative gene-disease associations are weak. Inadequate sample size is the most likely cause. Multicentre collaborations are vital.

Cognition ; Diagnostic Errors ; psychology ; Humans ; Physicians ; psychology ; Thinking

Epilepsy ; drug therapy ; Humans ; Public Opinion ; Quality of Health Care ; Quality of Life

Diagnostic errors can result in tangible harm to patients. Despite our advances in medicine, the mental processes required to make a diagnosis exhibits shortcomings, causing diagnostic errors. Cognitive factors are found to be an important cause of diagnostic errors. With new understanding from psychology and social sciences, clinical medicine is now beginning to appreciate that our clinical reasoning can take the form of analytical reasoning or heuristics. Different factors like cognitive biases and affective influences can also impel unwary clinicians to make diagnostic errors. Various strategies have been proposed to reduce the effect of cognitive biases and affective influences when clinicians make diagnoses; however evidence for the efficacy of these methods is still sparse. This paper aims to introduce the reader to the cognitive aspect of diagnostic errors, in the hope that clinicians can use this knowledge to improve diagnostic accuracy and patient outcomes.
Affect ; Attitude of Health Personnel ; Cognition ; Diagnosis, Differential ; Diagnostic Errors ; psychology ; Humans ; Physicians ; psychology ; Prejudice ; Thinking

Online large-group teaching (OLGT), employed to reach a large group of learners in separate physical locations, allows asynchronous learning and facilitates social distancing. While online large-groups can be a powerful and resource-lean means of health professions education, it has challenges and potential pitfalls that may affect the learning process and outcomes. Through a sociomateriality framework, this article describes strategies for effective online large-group teaching in health professions education in three key strands. Firstly, to optimize learning, OLGT sessions should match learning needs with appropriate OLGT platforms, incorporate strategies to sustain learner attention, and accommodate learners of different abilities. Secondly, to develop a learning culture, OLGT must not only focus on cognitive aspects of learning but also build a community of practice, nurture digital professionalism and professional identity. Thirdly, we discuss the avoidance of pitfalls such as cognitive overload of both tutors and learners, technical issues and security risks, mitigating inequities in access to online learning, and the use of program evaluation to plan for sustained improvements. We conclude with a case vignette that discusses the challenges of OLGT and the application of the above strategies in a teaching scenario.

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease characterized by a triad of progressive motor dysfunction, cognitive decline and psychiatric disturbances. The hallmark of HD is the distinctive choreiform movement disorder that typically has a subtle, insidious onset in the fourth to fifth decade of life and gradually worsens over 10 to 20 years until death. Notably, two-thirds of HD patients present with chorea and one third with mental changes. The prevalence of psychiatric symptoms is significantly higher than in the general population, and is estimated to be around 66–73%. Here, we report a unique case of subsequent onset of HD in a patient previously treated for schizophrenia and complicated by the extrapyramidal side effects to antipsychotics.
Antipsychotic Agents ; Chorea ; Humans ; Huntington Disease* ; Neurodegenerative Diseases ; Prevalence ; Psychotic Disorders* ; Schizophrenia

Physicians ; Professional Misconduct ; Professionalism ; education

Primary leptomeningeal lymphoma (PLML) is a rare entity, representing 7% of all cases of primary central nervous system lymphoma and approximately 0.1% of primary central nervous system tumours.1-4 Patients can present with symptoms of raised intracranial pressure, or cranial or spinal polyradiculopathies.1-3 Even with extensive investigations, diagnosis in up to a third of patients can only be confirmed with meningeal biopsy. In this Imaging Highlights, we describe a patient who presented with multiple cranial nerve palsies with corresponding MRI nerve enhancement, and subsequent meningeal biopsy proven lymphoma.

Curriculum ; Epidemics ; Health Occupations ; Humans ; Pandemics/prevention & control*