The Complexity and Challenges of Genetic Counseling and Testing for Inflammatory Bowel Disease

Inflammatory bowel disease (IBD) is an umbrella term referring to two chronic idiopathic intestinal diseases: ulcerative colitis (UC) and Crohn’s disease (CD). Both UC and CD are characterized by immune activation that leads to symptoms, but the location, severity and behavior of the inflammation varies among individuals and in characteristic ways between UC and CD. A majority of patients with IBD are diagnosed in young adulthood, but the response to therapy is variable and difficult to predict, with some patients demonstrating a prompt and effective remission while others have continuous symptoms that do not respond to existing medical options. Surgery remains a frequent and necessary occurrence among patients with IBD, but in UC it is considered curative, while in CD only temporizing. Clinical observations, epidemiological studies, and molecular genetics have provided strong evidence that both genetic and environmental factors are important determinants for disease susceptibility. In recent years, a number of genes have been identified that associate with CD and UC, although the clinical utility of these discoveries in patients or in susceptible family members has not been determined. Nonetheless, it is hoped that these fundamental advances in our understanding of IBD will lead to better therapies for patients and prevention strategies for those who are susceptible. Effective incorporation of clinical genetic testing for IBD into practice will require appropriate education and counseling.     

PTSD and psychological distress in Icelandic parents of chronically ill children: Does social support have an effect on parental distress?

The purpose of the study was to investigate psychological distress and the prevalence of PTSD among Icelandic parents of chronically ill children, and the potential effects of social support on distress, at two points in time. The Impact on Family scale (IFS), the Trauma Symptom Checklist (TSC), the Harvard Trauma Questionnaire (HTQ) and the Crisis Support Scale (CSS) were completed by 105 parents of children with various diseases (69 mothers and 36 fathers). Despite the heterogeneity of the sample in terms of disease type, PTSD was present in 13.2% of the parents and an additional 28.6% had subclinical PTSD. Time since diagnosis, length of hospitalizations and disease-related daily care predicted 40% of the HTQ total score.     

Perceived health following myocardial infarction: cross-validation of the Health Complaints Scale in Danish patients

With an ageing population and a decline in cardiac mortality rates, the number of patients with cardiac disease is increasing, which in turn poses a major challenge for secondary prevention. For this end, appropriate, sensitive, and validated instruments to assess health complaints and quality of life are required. The objectives of the current study were: (1) to cross-validate the Health Complaints Scale (HCS) in a Danish sample of patients with a first myocardial infarction (MI); and (2) to investigate whether perceived health, as measured by the HCS is related to cardiac disease severity. The HCS was originally developed in Belgian patients with coronary artery disease. One-hundred-and-twelve consecutive patients with a first myocardial infarction were assessed by means of a questionnaire four to six weeks post infarction. Clinical measures were sampled from medical records. The factor structure of the HCS and the internal consistency of the Somatic Complaints (alpha = 0.91) and Cognitive Complaints subscales (alpha = 0.94) were confirmed. The construct validity of the scale was confirmed against measures of psychopathology and personality. Patients scored significantly higher on the HCS Somatic and Cognitive scales as compared with self-reports of depression and anxiety (p < 0.0001). Health complaints were unrelated to severity of cardiac disease and rather reflected subjective perception of quality of life. These findings show that the HCS is a valid instrument that is equally applicable in Danish cardiac patients to monitor perceived health as a major component of quality of life.     

Competition, inhibition, and semantic judgment errors in Parkinson's disease

Semantic processing errors are symptoms of an up-regulation (schizophrenia) or degradation (Parkinsonism) of dopaminergic pathways. A recent connectionist model attributed errors in the schizophrenic processing of context to increased gain in competitive neural processes. This study extends this "gain hypothesis" by comparing the sensitivity to reduced gain of a simulation of semantic route activation to characteristic semantic judgment errors made by Parkinson's patients in an open search task. Under normal gain conditions, the dominant sense of polysemous words "wins" through competition and lateral inhibition at the word sense level (beta(inh)). For words with very different sense frequencies, decreasing gain by increasing beta(inh) resulted in the dominant word sense winning; however, for words with similar sense frequencies, increasing beta(inh) resulted in the dominant word sense winning only for low to moderate values. At high levels, no clear winner emerged after 200 epochs, with the least dominant sense reaching the maximum activation value. These results are discussed in the context of the Yerkes-Dodson Law, which may provide a theoretical basis for understanding normal and impaired semantic performance in catecholaminergic disorders.     

Ethical,and practical issues in applying functional imaging to the clinical management of Alzheimer's disease

This review outlines ethical, legal, and practical issues related to conducting functional imaging research with Alzheimer's disease (AD) patients. Imaging techniques, with an emphasis on functional MRI and positron emission tomography, are compared and contrasted with respect to the manner in which they can be applied to issues of clinical relevance to AD. Methodological difficulties are raised to assist with critical evaluation of current imaging results. Various potential clinical applications of functional imaging are briefly reviewed and discussed with respect to associated ethical conflicts.     

Neuropsychological Sequelae of Subthalamic Nucleus Deep Brain Stimulation in Parkinson's Disease: A Critical Review

Neuropsychologists are increasingly involved in surgical candidacy evaluations and postoperative neurobehavioral assessments of patients with movement disorders, most notably those with disease (PD). We review here the initial studies regarding neuropsychological outcomes of deep brain stimulation (DBS) within the subthalamic nucleus (STN) for treatment of PD. Overall, these initial investigations provide preliminary support for the cognitive and neurobehavioral safety of STN DBS. Improvements in self-reported symptoms of depression and diminished verbal fluency were the most common findings, whereas changes in global cognitive abilities, memory, attention, and frontal/executive functions were inconsistent and most often described as nominal and/or transient. The generalizability of this literature is hindered by several methodological limitations, including small samples and the absence of appropriate control participants. The clinical and theoretical implications of these initial studies are highlighted and recommendations are offered to guide future research.     

Patterns of Coping Among Persons with HIV Infection: Configurations, Correlates, and Change

This study examines coping in response to HIV infection, using longitudinal data from a nationally representative sample (n = 2,864) of HIV-infected persons. We investigated configurations of coping responses, the correlates of configuration membership, the stability of coping configurations, and the relationship of coping to emotional well-being. Four coping configurations emerged from cluster analyses: relatively frequent use of blame-withdrawal coping, frequent use of distancing, frequent active-approach coping, and infrequent use of all three coping strategies (passive copers). Passive copers had few symptoms, high levels of physical functioning, and high emotional well-being; blame-withdrawal copers had the opposite pattern. Of those completing a second interview 1 year after baseline, 46% had the same coping configuration. Increases in the number of HIV-related symptoms raised the probability of blame-withdrawal coping at follow-up, whereas decreases raised the probability of passive coping. Infrequent use of coping responses at baseline was related to greater emotional well-being 1 year later. This result, in conjunction with the high levels of emotional well-being in the passive cluster, suggests that high levels of distress can induce blame-withdrawal coping whereas coping efforts are minimal when social support and emotional well-being are high. Results highlight issues in ascertaining the causal direction between coping and psychological outcomes, as well as in specifying the nature of stressful situations with which people are coping.     

Neuropsychological outcome of GPi pallidotomy and GPi or STN deep brain stimulation in Parkinson's disease

This paper highlights the neuropsychological sequelae of posteroventral pallidotomy (PVP) and deep brain stimulation (DBS) of the subthalamic nucleus (STN) and the internal segment of the globus pallidus (GPi) at 3/6 months postoperatively. Results are based on our extensive experience with PVP and our preliminary observations with DBS. Patients with borderline cognitive or psychiatric functioning risk postoperative decompensation. Nonlateralizing attentional and hemisphere-specific impairments of frontostriatal cognitive functions followed unilateral PVP. "Frontal" behavioral dyscontrol was observed in approximately 25% of patients. Three cases of staged bilateral PVP suggest that premorbid factors may predict outcome, although lesion size and location are also critical. Older patients are at risk for significant cognitive and behavioral decline after bilateral STN DBS, while GPi DBS may be safer.     

Caregiver Attitudes About Patients Told They Have Alzheimer's Disease After Truth Disclosure

We wished to determine caregiver attitudes about telling patients they have Alzheimer's disease (AD). At a clinic visit, the patient, caregiver, and other family members were informed of the diagnosis of AD in a frank discussion. Caregivers accompanying patients to the Memory Disorders Clinic (MDC) were interviewed in a postvisit telephone survey 3–12 months after the truth disclosure visit. Of the 37 caregivers of a consecutive series of AD clinic patients we contacted, 35 agreed to the interview. Of those caregivers interviewed, 68.6% agreed that it had been a good idea to tell the patient the diagnosis, although 11.4% disagreed. 74.3% thought that the truth disclosure had not been too upsetting; 20% disagreed. Caregivers with more education were more likely to agree that patients should be informed. Neither the relationship of the caregiver to the patient, the patient's age, sex, education level, nor degree of dementia were predictive of the caregiver's attitude about informing the patient. Most Caregivers agreed with disclosing the diagnosis. Only a small group of patients were judged very upset after hearing the diagnosis. Even for those patients, caregivers generally felt that an honest discussion of the diagnosis had been helpful.