Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal–fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. 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 health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

Visual sensing without seeing

Abstract— It has often been assumed that when we use vision to become aware of an object or event in our surroundings, this must be accompanied by a corresponding visual experience (i.e., seeing). The studies reported here show that this assumption is incorrect. When observers view a sequence of displays alternating between an image of a scene and the same image changed in some way, they often feel (or sense) the change even though they have no visual experience of it. The subjective difference between sensing and seeing is mirrored in several behavioral differences, suggesting that these are two distinct modes of conscious visual perception.     

The influence of cast shadows on visual search

We show that cast shadows can have a significant influence on the speed of visual search. In particular, we find that search based on the shape of a region is affected when the region is darker than the background and corresponds to a shadow formed by lighting from above. Results support the proposal that an early-level system rapidly identifies regions as shadows and then discounts them, making their shapes more difficult to access. Several constraints used by this system are mapped out, including constraints on the luminance and texture of the shadow region, and on the nature of the item casting the shadow. Among other things, this system is found to distinguish between line elements (items containing only edges) and surface elements (items containing visible surfaces), with only the latter deemed capable of casting a shadow.     

Neurocognitive Manifestations of Human Immunodeficiency Virus

Is human immunodeficiency virus still a terminal condition? Recent advances in treatment have significantly reduced both mortality and morbidity associated with HIV, but these treatments have not been successful in eradicating the virus itself. As such, HIV has evolved into a chronic condition that is complicated by neurocognitive factors. Cognitive difficulties associated with HIV are characterized by a subcortical pattern with primary deficits in information processing speed and psychomotor speed. These deficits interfere with the ability of patients to complete important instrumental activities of daily living even in the absence of dementia. Treatment of HIV improves neurocognitive functioning, but the regimens are complex and patient adherence is critical. Cognitive factors can negatively impact treatment adherence, which in turn results in poorer immunological, cognitive, and psychiatric outcome. This cycle emphasizes the important interrelationships between symptom expression and treatment outcome in patients with HIV. The nature of these relationships will change with further developments in treatment regimens such as once-daily dosing. Less complex treatment approaches should improve health outcome as well as provide additional opportunities to further understand the impact of HIV on brain function.     

Stem cell research: a target article collection: Part III--determining moral status

In this chapter, I review some of the background thinking concerning matters of moral status that I had developed in previous years and that I would now bring to the work of the Human Embryo Research Panel. Two ideas were at the forefront of my thinking. First, that biology usually offers not decisive "events" but only continuous processes of development. Second, in making status determinations we do not so much "identify" a point on a developmental continuum where moral respect should be accorded as "choose" that point. These choices are "balancing decisions" in which the community of moral agents weighs its interests in protecting an entity against the burdens of doing so. After illustrating these two contentions, I consider some of the reasons why thinkers on the "right" and "left" of our bioethics debates have resisted or missed this basic insight.     

When fit indices and residuals are incompatible

Standard chi-square-based fit indices for factor analysis and related models have a little known property: They are more sensitive to misfit when unique variances are small than when they are large. Consequently, very small correlation residuals indicating excellent fit can be accompanied by indications of bad fit by the fit indices when unique variances are small. An empirical example of this incompatibility between residuals and fit indices is provided. For illustrative purposes, an artificial example is provided that yields exactly the same correlation residuals as the empirical example but has larger unique variances. For this example, the fit indices indicate excellent fit. A theoretical explanation for this phenomenon is provided using relationships between unique variances and eigenvalues of the fitted correlation matrix.     

Gene x environment interaction and cognitive performance: animal studies on the role of corticosterone

A fundamental question in the neurobiology of cognition is how stress and glucocorticoids modify learning and memory processes. Why some individuals develop cognitive deficits after stress, while other individuals improve in cognitive performance under similar adverse conditions is still unresolved. To address these questions we focus on those issues. First, corticosterone, which appears to be the preferred glucocorticoid for the rodent and human brain, acts via brain mineralocorticoid (MR) and glucocorticoid receptors (GR) on the expression of networks of corticosteroid-responsive genes. Different effects are achieved by MR and GR activation. Second, the experimental context that determines the timing and the consequences of corticosterone action during the various stages of information processing is reviewed. Third, the genetic context and the environmental context are investigated. Using apolipoprotein E knockout (apoE0/0) mice we show that apoE (apoE4 is a genetic risk factor for Alzheimer's disease) is a candidate gene with an important function in shaping the cognitive outcome (genotype x environment interaction).     

Psychiatric Hospitalization and School and Community Adjustment of Children and Adolescents with Acquired Brain Injury

There is a high prevalence of psychiatric disorders in children and adolescents who have acquired brain injury (ABI). We examined the records of 82 students with ABI who were admitted to a community-based school for education and neurorehabilitation over a three-year period to determine how many experienced one or more psychiatric hospitalizations before admission, and whether hospitalization status was related to positive school and community adjustment. Results were that 30.4% of the students had a documented history of one or more psychiatric hospitalizations. Of this group, 60.0% were able to be maintained in the community-based school program and 40.0% were discharged to other settings. When discharged, 70.0% of students entered more restrictive treatment programs (e.g., psychiatric hospital, secure residential facility, residential school). The number of psychiatric hospitalizations did not predict discharge from the community-based school and was unrelated to the type of discharge setting. Clinical and research issues concerning psychiatric disorders in children and adolescents with ABI in relation to post-acute adjustment are discussed.