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.     

How (and where) does moral judgment work?

Moral psychology has long focused on reasoning, but recent evidence suggests that moral judgment is more a matter of emotion and affective intuition than deliberate reasoning. Here we discuss recent findings in psychology and cognitive neuroscience, including several studies that specifically investigate moral judgment. These findings indicate the importance of affect, although they allow that reasoning can play a restricted but significant role in moral judgment. They also point towards a preliminary account of the functional neuroanatomy of moral judgment, according to which many brain areas make important contributions to moral judgment although none is devoted specifically to it.     

Commentary: A Patient's Perspective on Predictive Testing for Alzheimer Disease

Commentary

Commentary: A Patient's Perspective on Predictive Testing for Alzheimer Disease     

Parent Perception of Elementary School Aged Children’s Sleep Problems

Wide discrepancies exist concerning the reported occurrence of sleep problems for elementary school children. We describe parental perception of sleep problem behavior in elementary school aged children 5–12 years. Approximately 4% of parents reported their children experienced significant global sleep problems serious enough to adversely affect family functioning. Significant specific sleep problems reported by parents occurred for approximately 9–14% of the children in the sample. These ranges were in the low end of the ranges of sleep problems reported in previous literature for this age group.     

Metabolic and endocrine disturbances in psychiatric disorders: a multidisciplinary approach to appropriate atypical antipsychotic utilization

Patients with psychiatric disorders have an increased rate of cardiovascular morbidity and mortality compared with the general population. Metabolic issues such as weight gain, dyslipidemia, diabetes mellitus, diabetic ketoacidosis,and pancreatitis have been reported with the use of antipsychotic agents. Although atypical antipsychotics have not been linked directly to the development of metabolic syndrome, these medications have been shown to increase risk factors that can lead to metabolic and endocrine disturbances. Therefore, clinicians should provide ongoing monitoring for patients who are being treated for psychiatric disorders with these agents. According to the 2004 Consensus Report on Antipsychotics, screening measures should include baseline and follow-up monitoring of personal/family histories, weight (body mass index), waist circumference, blood pressure, fasting plasma glucose, and fasting lipid profile.     

Assessment of executive function in preschool-aged children

Assessment of the overarching self-regulatory mechanisms, or executive functions, in any age group is challenging, in part due to the complexity of this domain, in part due to their dynamic essence, and in part due to the inextricable links between these central processes and the associated domain-specific processes, such as language, motor function, and attention, over which they preside. While much progress has been made in clinical assessment approaches for measuring executive functions in adults and to some extent in adolescents and school-aged children, the toolkit for the preschool evaluator remains sparse. The past decade, however, has seen a substantial increase in attention to executive functions in very young children from a developmental neuropsychological perspective. With this has come a necessity for better, more specific, and more internally valid performance measures, many of which are now described in the experimental literature. Few such tasks, however, have adequately demonstrated psychometric properties for clinical application. We present two performance tasks designed to tap selective aspects of executive function in preschoolers that are emerging from the experimental laboratory and hold promise of appropriate reliability and validity for the clinical laboratory. Performance tests alone, however, are insufficient to develop a comprehensive picture of a child's executive functioning. Thus, we present a rating scale of preschoolers' executive function in the everyday context, and advocate a model of executive function assessment that incorporates both controlled performance tasks that target specific aspects of executive function and parent/teacher ratings that target more global aspects of self-regulation in the everyday context.     

Why is discrimination stressful? The mediating role of cognitive appraisal

This study attempts to shed light on past findings that experiences of racial and gender discrimination are associated with poor psychological and physical health outcomes by investigating the role of cognitive appraisal as a mediator of the relationship between experiences of discrimination and affective stress reactions. African American female college students (N = 115) imagined themselves in an audiotaped scenario in which they overheard 2 European American male classmates make negative evaluations of them. Participants then completed measures of causal attributions, cognitive appraisal, and affective stress reactions. Multiple regression analyses supported the hypotheses that attributions to racism and to discrimination that combines racism and sexism were associated with increased stress reactions. This relationship was mediated by cognitive appraisals of centrality.     

Pediatric do-not-attempt-resuscitation orders and public schools: a national assessment of policies and laws

Some children living with life-shortening medical conditions may wish to attend school without the threat of having resuscitation attempted in the event of cardiopulmonary arrest on the school premises. Despite recent attention to in-school do-not-attempt-resuscitation (DNAR) orders, no assessment of state laws or school policies has yet been made. We therefore sought to survey a national sample of prominent school districts and situate their policies in the context of relevant state laws. Most (80%) school districts sampled did not have policies, regulations, or protocols for dealing with student DNARs. A similar majority (76%) either would not honor student DNARs or were uncertain about whether they could. Frequent contradictions between school policies and state laws also exist. Consequently, children living with life-shortening conditions who have DNARs may not have these orders honored if cardiopulmonary arrest were to occur on school premises. Coordinated efforts are needed to harmonize school district, state, and federal approaches in order to support children and families' right to have important medical decisions honored.     

Effectiveness Research: Transporting Interpersonal Psychotherapy for Depressed Adolescents (IPT-A) From the Lab to School-Based Health Clinics

This paper describes the process of modifying and transporting an evidence-based treatment, Interpersonal Psychotherapy for Depressed Adolescents (IPT-A), from a university setting to school-based health clinics. It addresses conceptual issues involved in the shift from efficacy to effectiveness research as well as operational issues specific to the transport of IPT-A into school-based health clinics. Consideration is given to the rationale for an IPT-A effectiveness study, methodological concerns, and the timing of the move from the lab to the community. The authors identify challenges and barriers to initiating effectiveness and transportability research and provide suggestions for overcoming these barriers. Recommendations for conducting research in school-based practice settings are provided.