Ethical dilemmas in testing for late onset conditions: reactions to testing and perceived impact on other family members

This paper examines some of the ethical dilemmas that arise when testing for the late onset, untreatable condition of Huntington disease (HD) specifically now that technology allows us to test younger generations of the family for the mutant gene. Drawing on interview data from families with Huntington disease, the reactions to testing and perceived impact on other family members are considered. These are discussed in the light of the possible lowering of the age of test applicants. This potentially raises problems for a younger generation as they are confronted with reproductive decisions that the older generation did not have to face. It also means that individuals have the prospect of living with knowledge of a future illness for much longer.     

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors

The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

A gender perspective on Person-Manager fit and managerial advancement

This article presents two studies examining (1) the relationship between Person-Manager (P-M) fit and managerial advancement of women and men with, and without managerial aspirations and (2) the P-M fit as related to managerial and non-managerial women. The P-M fit was assessed by computing the congruence between participants' self-rated personality profile and the perceived personality profile of a manager. Sex (men show a higher P-M fit than women), gender (the higher the individual's masculine gender-role, the higher the P-M fit) and group (managers and managerial aspirants show a higher P-M fit than non-managerial aspirants and non-managers) hypotheses were tested. There was no support for the sex difference hypothesis. However, the group and gender hypotheses were confirmed showing that managers and managerial aspirants had a higher P-M fit than non-managers and non-aspirants. Further, analyses revealed that the higher the participants' masculinity scores, the higher the P-M fit. Implications of these findings are discussed in relation to the gendered image of the managerial role and adaptation theory.     

Parenting and Family Stress Treatment Outcomes in Attention Deficit Hyperactivity Disorder (ADHD): An Empirical Analysis in the MTA Study

Parenting and family stress treatment outcomes in the MTA study were examined. Male and female (579), 7–9-year-old children with combined type Attention Deficit Hyperactivity Disorder (ADHD), were recruited at six sites around the United States and Canada, and randomly assigned to one of four groups: intensive, multi-faceted behavior therapy program alone (Beh); carefully titrated and monitored medication management strategy alone (MedMgt); a well-integrated combination of the two (Comb); or a community comparison group (CC). Treatment occurred over 14 months, and assessments were taken at baseline, 3, 9, and 14 months. Parenting behavior and family stress were assessed using parent-report and child-report inventories. Results showed that Beh alone, MedMgt alone, and Comb produced significantly greater decreases in a parent-rated measure of negative parenting, Negative/Ineffective Discipline, than did standard community treatment. The three MTA treatments did not differ significantly from each other on this domain. No differences were noted among the four groups on positive parenting or on family stress variables. Results are discussed in terms of the theoretical and empirically documented importance of negative parenting in the symptoms, comorbidities and long-term outcomes of ADHD.     

Traumatic Brain Injury as a Risk Factor for Alzheimer's Disease: A Review

Accumulating epidemiological evidence implicates traumatic brain injury as a pathogenic agent in the development of Alzheimer's disease (AD). Considering the increase in the prevalence of both traumatic brain injury and AD in recent times, the possibility that brain trauma may provoke the early development of AD has important implications for health service planning, preventative efforts, and medico-legal compensation settlements. This paper evaluates the plausibility of the proposed link between traumatic brain injury and AD, largely by way of exploring a theoretical perspective advanced by Satz (1993) and considering recent contributions from the epidemiological, neuropathological, and biochemical literature that are pertinent to this issue. The literature reviewed provides sufficient support and empirical vindication to give credence to the proposed association between these two neuropsychological entities at the statistical, theoretical, and biological level.     

A Pathological View of Disease

This paper is a response to Christopher Boorse's recent defense of hisBiostatistical Theory (BST) of health and disease. Boorse maintains that hisconcept of theoretical health and disease reflects the ``consideredusage of pathologists.' I argue that pathologists do not use ``disease' inthe purely theoretical way that is required by the BST. Pathology does notdraw a sharp distinction between theoretical and practical aspects ofmedicine. Pathology does not even need a theoretical concept of disease. Itsfocus is not theoretical, but practical; pathology's goal is to contribute tothe healing of patients. Pathology, even experimental pathology, is notvalue-free. Not only ``disease' but also such terms as ``nerve' and ``organ'are laden with conceptual values.     

Managing one's body using self-management techniques: practicing autonomy

This paper discusses some of the anthropological andphilosophical features of the use of self-managementplans by patients with a chronic disease, focusing onpatients with asthma. Characteristics of thistechnologically mediated form of self-care arecontrasted with the work of Mauss and Foucault on bodytechniques and techniques of self. The similaritiesand differences between self-management of asthma andFoucault's technologies of self highlight some of theways in which self-management contributes tomodifications in the definitions of patients andphysicians. Patients, in measuring their lungfunction, first come to rely on measurements more thanon felt disturbances, but next, felt disturbancesbecome modified by previous measurements. Physicians,on the other hand, see their role changed from expertto being a participant in a joint treatment. It isargued that the concept of agency is more appropriatefor describing the advantage of self-management forpatients than autonomy.     

The variability of practice hypothesis in motor learning: does it apply to Alzheimer's disease?

Based on Schmidt's (1975) variability of practice hypothesis, this study examined acquisition and transfer of a gross motor skill, namely tossing, in 58 patients with Alzheimer's disease (AD) and 58 healthy older adults under constant, blocked, and random practice conditions. While healthy older adults were able to learn the tossing task equally well under the three practice conditions, only AD patients receiving constant practice showed significant improvements. Tests of intermediate transfer yielded the expected random practice advantage in healthy controls but not AD patients. None of the practice conditions facilitated intermediate transfer in AD patients; however, constant practice did benefit these impaired individuals on tests of near transfer. These results indicate that the variability of practice hypothesis does not extend to AD patients. As motor learning and transfer were clearly a function of constant practice, future attempts to retrain basic activities of daily living in AD patients should emphasize consistency in training.     

The impact of enhanced incentives on vocational rehabilitation outcomes for dually diagnosed veterans

This study evaluated the efficacy of adding contingency management techniques to vocational rehabilitation (VR) to improve treatment outcome as measured by entry into competitive employment. Nineteen dually diagnosed veterans who entered VR in the Veterans' Administration's compensated work therapy (CWT) program were randomly assigned to CWT (n = 8) or to CWT with enhanced incentives (n = 11). Over the first 16 weeks of rehabilitation, those in the incentives condition could earn up to dollar 1,006 in cash for meeting two sets of clinical goals: (a) remaining abstinent from drugs and alcohol and (b) taking steps to obtain and maintain a competitive job. Results indicate that relative to participants in the CWT-only group, those in the incentives condition engaged in more job-search activities, were more likely to remain abstinent from drugs and alcohol, were more likely to obtain competitive employment, and earned an average of 68% more in wages. These results suggest that rehabilitation outcomes may be enhanced by restructuring traditional work-for-pay contingencies to include direct financial rewards for meeting clinical goals.     

Assessing the feasibility of using contingency management to modify cigarette smoking by adolescents

Cigarette smoking is a leading cause of preventable death in the United States. Many smokers initiate this dangerous behavior during adolescence. This report describes a contingency management intervention designed to initate and maintain a period of abstinence from cigarettes by adolescent smokers. Results suggest that the intervention was generally successful and that further investigation of this topic is warranted.