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Late-onset amnestic mild cognitive impairment (aMCI) with long disease course and slow progression has been recently recognized as a possible phenotypical expression of a limbic-predominant neurodegenerative disorder. Basic emotion recognition ability crucially depending on temporo-limbic integrity is supposed to be impaired in this group of MCI subjects presenting a selective vulnerability of medio-temporal and limbic regions. However, no study specifically investigated this issue.
Hereby, we enrolled 30 aMCI with a biomarker-based diagnosis of Alzheimer’s disease (i.e., aMCI-AD, n = 16) or a biomarker evidence of selective medio-temporal and limbic degeneration (aMCI-mTLD, n = 14). Ekman-60 Faces Test (Ek-60F) was administered to each subject, comparing the performance with that of 20 healthy controls (HCs).
aMCI-mTLD subjects showed significantly lower Ek-60F global scores compared to HC (p = 0.001), whose performance was comparable to aMCI-AD. Fear (p = 0.02), surprise (p = 0.005), and anger (p = 0.01) recognition deficits characterized the aMCI-mTLD performance. Fear recognition scores were significantly lower in aMCI-mTLD compared to aMCI-AD (p = 0.04), while no differences were found in other emotions.
Impaired social cognition, suggested by defective performance in emotion recognition tasks, may be a useful cognitive marker to detect limbic-predominant aMCI subjects among the heterogeneous aMCI population.
Inflammatory bowel disease (IBD) typically involves the large bowel, small bowel (ileum / jejunum), or both. Involvement of the upper GI tract is less common, although its frequency is uncertain because common causes of inflammation such as gastro-oesophageal reflux and Helicobacter pylori infection also require exclusion. In the setting of known IBD, upper GI inflammation generally favours Crohn’s disease over ulcerative colitis (UC), while granulomas strongly suggest involvement by IBD and indicate Crohn’s disease rather than UC. New upper GI inflammation may raise the possibility of IBD, while unexplained new upper GI granulomas require exclusion of Crohn’s disease. Unfortunately, few histological patterns apart from granulomas are specific or discriminant. Lymphocytic oesophagitis is a poorly defined entity associated with IBD and/or Crohn’s disease in some studies. Focally enhanced gastritis (FEG), though initially regarded as typical of Crohn’s disease, probably has limited value apart from perhaps predicting IBD in children. Rarely, UC patients develop a duodenitis resembling the colorectal changes histologically. UC may also be associated, infrequently, with characteristic patterns of gastritis. Compared with adults, children with IBD are more likely to have upper GI involvement, to develop GI granulomas, and to undergo investigation for upper GI disease. Overall, upper GI granulomas assist with the diagnosis and classification of IBD but few other upper GI features are discriminatory between IBD and other causes or between UC and Crohn’s disease.
Histological support for a diagnosis of inflammatory bowel disease (IBD) requires characteristic features, e.g. basal plasmacytosis, architectural changes, and granulomas. Unfortunately, many conditions share histological features with IBD. One of the closest mimics is diverticular colitis, a process that occurs adjacent or close to diverticula. It often resembles ulcerative colitis (UC), but, unlike UC, it rarely involves the rectum. Another close mimic is diversion proctocolitis, which is easy to diagnose if the history is available but otherwise is often difficult to distinguish from IBD. Mucosal changes similar to those of IBD may be the result of various infections, e.g. lymphogranuloma venereum/syphilis, amoebiasis, and HIV. Other causes include mass lesions and drugs. Granulomas are a feature of Crohn’s disease but can occur in other settings. In tuberculosis, they are typically larger and more confluent than in Crohn’s disease and may show necrosis. Rarer potential mimics of IBD include common variable immunodeficiency, Behcet’s disease, graft-versus-host disease, endometriosis, and pneumatosis coli. Close attention to the clinical picture and a careful approach to colorectal biopsy assessment by the pathologist should help reduce the chance of misdiagnosis and incorrect management.
The Minnesota Multiphasic Personality Inventory (MMPI-2) often supports clinical decision-making in complex diagnostic problems like differentiating neurosis from psychosis and psychosis from bipolar disorder. The MMPI Goldberg index, an arithmetical combination of five clinical scales, has been considered to provide a good estimate for discriminating between neurotic and psychotic profiles. Similarly, the MMPI-2 Personality Psychopathology Five (PSY-5) scales have been found to be useful in differentiating diagnostic categories.
This study evaluates these findings in a sample of psychiatric patients diagnosed with depressive, psychotic, or bipolar disorder using ANOVA and discriminant analysis.
Results corroborate the validity of Goldberg’s index and find MMPI-2 PSY-5 scale Disconstraint to significantly differentiate between psychotic and bipolar-I disorder.
The MMPI-2 Goldberg index and PSY-5 scales can offer a useful contribution to the differential diagnosis of depressive, psychotic and bipolar disorder.
Cerebrotendinous xanthomatosis (CTX) belongs to a heterogeneous group of neurological disorders known as autosomal recessive cerebellar ataxias. Low awareness of CTX can result in misdiagnoses in the differential diagnostic process and may limit one’s ability to offer suitable recommendations. While neurodegeneration is a recognized manifestation of CTX, there is scant literature to characterize the nature of cortical symptoms and even less detailing of its associated neurocognitive and neuropsychiatric manifestations.
Based on the lack of representation of CTX in neuropsychological literature, we sought to present a case seen in a 39-year-old patient within our own clinic.
Evaluation of the patient’s neurocognitive functioning revealed global impairment consistent with a CTX diagnosis and neuroimaging findings noting significant cerebellar involvement.
Neuropsychologists are increasingly called upon to make treatment recommendations and provide information that may be helpful in differential diagnosis as part of multidisciplinary teams. Referrals from neurology are common, and it is important for neuropsychologists to be aware of diseases that affect the central nervous system; CTX is one such example. The goal of this case study is to build awareness of this condition and increase interest in a more systematic approach to research and clinical care of this population.
Patients with an at-risk mental state (ARMS) for psychosis and patients with attention-deficit/hyperactivity disorder (ADHD) have many overlapping signs and symptoms and hence can be difficult to differentiate clinically. The aim of this study was to investigate whether the differential diagnosis between ARMS and adult ADHD could be improved by neuropsychological testing.
168 ARMS patients, 123 adult ADHD patients and 109 healthy controls (HC) were recruited via specialized clinics of the University of Basel Psychiatric Hospital. Sustained attention and impulsivity were tested with the Continuous Performance Test, verbal learning and memory with the California Verbal Learning Test, and problem solving abilities with the Tower of Hanoi Task. Group differences in neuropsychological performance were analyzed using generalized linear models. Furthermore, to investigate whether adult ADHD and ARMS can be correctly classified based on the pattern of cognitive deficits, machine learning (i.e. random forests) was applied.
Compared to HC, both patient groups showed deficits in attention and impulsivity and verbal learning and memory. However, in adult ADHD patients the deficits were comparatively larger. Accordingly, a machine learning model predicted group membership based on the individual neurocognitive performance profile with good accuracy (AUC = 0.82).
Our results are in line with current meta-analyses reporting that impairments in the domains of attention and verbal learning are of medium effect size in adult ADHD and of small effect size in ARMS patients and suggest that measures of these domains can be exploited to improve the differential diagnosis between adult ADHD and ARMS patients.
This chapter offers considerations and recommendations for conducting a comprehensive evaluation of neurodevelopmental disorders, with a particular focus on autism spectrum disorder due to its frequency and symptom overlap with other conditions. Commonly used measures for neurodevelopmental assessment are also reviewed. Components of evaluation discussed include developmental and medical history as well as assessments across multiple domains: diagnostic symptoms (social skills, communication skills, repetitive behaviors), cognitive skills (intellectual, language, attention, executive functioning), adaptive behavior, and psychiatric comorbidities. In conducting the evaluation, the examiner must carefully consider which developmental areas to assess and which measures to administer to best answer the referral question, provide accurate diagnosis, and inform treatment recommendations. Considerations and strategies are presented for cases in which specific needs or behaviors may necessitate changes to typical assessment choices and administration.
This introductory chapter provides an overview of the structure and content of The Cambridge Handbook of Clinical Assessment and Diagnosis. Cross-cutting themes from the chapters are considered within the context of elements of a good clinical psychological assessment. More specifically, the various parts of clinical assessment, including referral, sources of information, differential diagnosis, clinical formulation, and report writing, along with considerations for noncredible reporting and cultural considerations, are discussed. For each component of a clinical assessment, reference to more detailed information in specific chapters is provided. This chapter ends with a call for future developments in clinical psychological assessment, with an emphasis on various technological advances to further bring assessment practices into the twenty-first century.
The human animal type melanoma (ATM) is a rare subtype of melanoma characterised by the proliferation of pigmented dermal epithelioid and spindled melanocytes. However, this variant of melanoma is still lacking a precise nosography definition and classification for the difficulty to be distinguished from other more common melanocytic lesions, as well as for its peculiar biological behaviour. On the other hand, the contribution of scientific literature to this issue is fragmented and limited to the description of very few cases. Starting from the presentation of a case with abnormally aggressive clinical features, here we revisit the current knowledge on ATM from its dermatologic patterns, epidemiology, demography and histopathology to the clinical management. Peculiar accuracy has also been reserved to several histopathologic criteria, which are critical for the differential diagnosis from other melanocytic diseases in junction with molecular data deriving from recent cytogenetic and mutational characterisation of this tumour.
Primary progressive apraxia of speech (PPAoS) is a neurodegenerative syndrome characterized by speech apraxia at its onset; as it progresses, it often evolves into total mutism. Even though this syndrome is increasingly recognized, its early differential diagnostic is still complex. The objective of this study was to illustrate why a fine evaluation of speech and language is essential for the differential diagnosis of PPAoS. This longitudinal case study presents the progression of a PPAoS patient over a period of 5 years. Periodic neurological and speech-language assessments were carried out to follow the progression of neurological, memory, language and speech symptoms. The different diagnostic labels established over time were also reported. The evolution of the patient’s communication profile was characterized by a preservation of language components and episodic memory, in parallel with a progressive deterioration of speech which gradually reduced intelligibility, and was associated with signs of spasticity, resulting in a complete anarthria. This case study sheds light upon the evolution of a patient with PPAoS. A better understanding of the clinical profile and progression of PPAoS is necessary in order to improve early diagnosis and adequate care for these patients.
Research on the relationship between military service and eating pathology has yielded mixed findings. Among those of military backgrounds, anorexia nervosa typically presents with co-occurring disorders that complicate diagnosis and treatment. The purpose of this paper is to present a case report of a retired Navy midshipman. The patient sought treatment for obsessive compulsive disorder (OCD), but his assessment revealed the primary pathology to be anorexia nervosa. This case illustrates ways in which military life may contribute to eating pathology and the complex overlap and differential diagnosis of anorexia nervosa and OCD.
The recently updated Japanese guidelines draw attention to a specific MRI pattern of disproportionately enlarged subarachnoid space hydrocephalus (DESH), believed to be pathognomonic of idiopathic normal pressure hydrocephalus (iNPH). This chapter discusses why establishing the diagnosis of NPH remains a challenge fifty years after its classic description. The original diagnosis of NPH relied upon the presence of mild dementia, gait, and urinary difficulties (Hakim's triad) seen in association with ventriculomegaly on pneumo-encephalogram. More sensitive cognitive evaluation of iNPH patients requires specific tests for the assessment of subcortical frontal lobe deficits such as the Rey Auditory Verbal Learning Test, Stroop test, Grooved Pegboard, Trail Making A and B Test, and digit span test. This diagnostic test provides information about cerebrospinal fluid (CSF) dynamics and predicts outcome. It consists in either removal of CSF accompanied by pre and post functional evaluation, or an infusion (bolus or continuous) test.
This chapter provides an overview of incontinence and lower urinary tract symptoms in normal pressure hydrocephalus (NPH), and covers areas including dementia and incontinence, differential diagnosis, physiology and pathophysiology, symptoms, evaluation, and treatment. The relationship between gait disturbances, dementia, and incontinence has profound importance because of the potential heightened risk of falls. In the central nervous system, there are two main areas involved in the motor control and reciprocal coordination of lower urinary tract function. Our understanding of lower urinary tract dysfunction in NPH is limited by a lack of detailed knowledge of the supraspinal pathways involved in the control of micturition. Urodynamic studies may be the most important investigative procedures performed in patients with significant urinary symptoms and idiopathic NPH (iNPH), as the results will help identify etiologies and guide treatments. Patients may be treatment refractory to standard doses or may require higher than recommended doses or combination therapies.
It is given that medical illness is common in psychiatric patients and that psychiatric pathology is common in medical conditions. Within the emergency department, psychiatric patients make-up one of the major diagnostic categories. Evaluation of pre-existing and comorbid psychiatric conditions and their treatments, which can have a profound impact on the patient's medical evaluation, differential diagnosis, and treatment plan, should quickly follow stabilization of the emergency condition. According to the NIMH Epidemiologic Catchment Area Program, more than half of those that abuse drugs have a psychiatric comorbidity with an odds ratio of 4.5. Polypharmacy is a growing national problem, not just in the comorbid medical-psychiatric patient, and is noted especially in select patient populations like nursing homes, a growing referral source for many emergency departments. Psychiatric patients are often taking adjunctive medications such as tricyclic antidepressants, anticonvulsants, and benzodiazepines that can be adjusted to serve dual therapeutic purpose.
Background: Dementia with Lewy bodies (DLB) is the second most common type of neurodegenerative dementia. It is frequently difficult to differentiate DLB from Alzheimer's disease (AD) and other types of dementia. This study examined the usefulness of monitoring sleep talking for the diagnosis of DLB.
Methods: A total of 317 patients with dementia were selected from a consecutive series at the Dementia Clinic of Kumamoto University Hospital. Diagnostic categories consisted of probable DLB (n = 55), probable AD (n = 191), frontotemporal lobar degeneration (FTLD) (n = 16), vascular dementia (VaD) (n = 18), and other/unspecified dementia (n = 37). We evaluated sleep talking in all dementia patients and normal elderly subjects (n = 32) using an originally designed sleep talking questionnaire.
Results: Sleep talking occurred most frequently in the DLB group (61.8%), followed by the VaD group (33.3%), other/unspecified dementia group (27.0%), AD group (18.8%), FTLD group (12.5%), and normal elderly subjects group (6.3%). The prevalence of sleep talking in the DLB group was significantly higher than in other groups, except in the VaD group. The sleep talking yielded high specificity (81.2%) and some sensitivity (61.8%) for the differential diagnosis of DLB from AD. Furthermore, loud sleep talking may improve the specificity (96.9%). For the differentiation of DLB from all other dementia types, the specificity of sleep talking and loud sleep talking was also high (79.4% and 95.8% respectively).
Conclusions: Assessing sleep talking, especially the volume of sleep talking, may be useful in the clinical discrimination of DLB from not only AD but also from all other types of dementia.
The accurate diagnosis of intrauterine growth restriction (IUGR) is achieved using a combination of clinical examination, relevant laboratory tests, and a variety of ultrasound techniques, including detailed anatomical scanning, placental evaluation, and Doppler assessment of placental and fetal vessels. The risk factors for IUGR are increasing over time and these include increased maternal age, coexistent medical problems, and assisted reproductive technology. Fetal causes of IUGR may be classified according to genetic diseases, congenital malformations, infections, and multiple gestation. Once a diagnosis has been established, consideration of the need for further investigations, consultation, or advice from a regional perinatal center and ongoing maternal-fetal surveillance should be instituted. Management will be directed according to the presence or absence of uteroplacental vascular insufficiency. The optimal timing of delivery is currently the source of much controversy, due to the many relevant clinical and ultrasound factors that clinicians must consider, in addition to patient preferences.
Psychopathy and antisocial personality disorder (ASPD) are both characterized by impulsive, externalizing behaviors. Researchers have argued, however, that psychopathy is distinguished from ASPD by the presence of interpersonal–affective features that reflect an underlying deficit in emotional sensitivity. No study to date has tested for differential relations of these disorders with the brain's natural orienting response to sudden aversive events.
Electroencephalography was used to assess cortical reactivity to abrupt noise probes presented during the viewing of pleasant, neutral and unpleasant pictures in 140 incarcerated males diagnosed using the Psychopathy Checklist – Revised and DSM-IV criteria for ASPD. The primary dependent measure was the P3 event-related potential response to the noise probes.
Psychopaths showed significantly smaller amplitude of P3 response to noise probes across trials of all types compared with non-psychopaths. Follow-up analyses revealed that this overall reduction was attributable specifically to the affective–interpersonal features of psychopathy. By contrast, no group difference in general amplitude of probe P3 was evident for ASPD versus non-ASPD participants.
The findings demonstrate a reduced cortical orienting response to abrupt aversive stimuli in participants exhibiting features of psychopathy that are distinct from ASPD. The specificity of the observed effect fits with the idea that these distinctive features of psychopathy reflect a deficit in defensive reactivity, or mobilization of the brain's defensive system, in the context of threat cues.
Parkinson's disease is a progressive neurodegenerative condition. There is an increasing incidence and prevalence with advancing age and more cases are predicted as the population ages. Because of likely differing aetiology, genetics and pathology in individual patients, as well as confounding co-morbidities, diagnosis can be difficult even for specialists. We present an overview of the pathology, aetiology and differential diagnosis of Parkinson's disease in older people. The importance of specialist medical input in diagnosis is emphasized.
Relatively new developments in MRI, such as functional MRI (fMRI), magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) are rapidly developing into imaging modalities that will become clinically available in the near future. They have in common that their signal is somewhat easier to interpret than structural MRI: fMRI mirrors excess cerebral blood flow, in many cases representing brain activity, MRS gives the average volume concentrations of specific chemical compounds, and DTI reflects “directedness” of micro-anatomical structures, of particular use in white matter where fiber bundle disruption can be detected with great sensitivity. While structural changes in MRI have been disappointing in giving a diagnosis of sufficient sensitivity and specificity, these newer methods hold out hope for elucidating pathological changes and differentiating patient groups more rigorously. This paper summarizes promising research results that will yet have to be translated into real life clinical studies in larger groups of patients (e.g. memory clinic patients). Where available, we have tried to summarize results comparing different types of dementia.