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.     

At-Risk for Diabetes: Coping with the News

This study assessed 37 children's and 38 adults', as well as their family members' (39 mothers and 26 spouses), coping responses to the news that they (or a loved one) were islet-cell antibody positive (ICA+) and at risk for type 1 diabetes. The Ways of Coping Checklist (WCC) was administered 4 months after ICA+ notification and at follow-up 10 months later. Participants' state anxiety was measured a few days after ICA+ notification and again 4 months later, at the time of the initial WCC administration. Children's coping strategies differed from those of adults, and mothers' coping strategies differed from spouses'. Initial state anxiety in response to ICA+ notification was related to how participants subsequently coped with the news. Coping, in turn, was related to maintenance of state anxiety over time.     

Demonstration of a socially transmitted flavor aversion in rats? Kuan and Colwill (1997) revisited

In each of three experiments that differed only in procedural detail, observer rats interacted with pairs of conspecific demonstrators, one fed a cocoa-flavored diet (Diet Coc) and the other a cinnamon-flavored diet (Diet Cin). Immediately after both members of a pair of demonstrators had been fed, and 5 min before they interacted with an observer or observers, one of the demonstrators was made ill by intraperitoneal injection with lithium chloride. After interacting with a pair of demonstrators for 15 min, each observer was allowed to choose between Diet Cin and Diet Coc for 22 h. In all three experiments, observer rats consumed as much Diet Cin after interacting simultaneously with both an ill demonstrator that had eaten Diet Cin and a healthy demonstrator that had eaten Diet Coc as after interacting simultaneously with both a healthy demonstrator that had eaten Diet Cin and an ill demonstrator that had eaten Diet Coc. These results raise questions about the generality of Kuan and Colwill’s (1997) demonstration of socially transmitted flavor aversions in Norway rats.     

Postural stability and hand preference as constraints on one-handed catching performance in children

Effects of postural state and hand preference as constraints on 1-handed catching performance were investigated in different ability groups of children aged 9-10 years. On the basis of pretest data, the authors classified 48 participants into groups of good, intermediate, and poor catchers (n = 16 in each) and asked them to perform 1-handed catches with their preferred and nonpreferred hands while standing and sitting. The good catchers' performance was not affected by the imposed postural constraints but did improve when they used the preferred hand. A similar effect of hand preference was evident in the intermediate and poor catchers, but there was also an effect of postural constraint. Independent of hand preference, intermediate catchers' performance while seated improved significantly compared with that during standing. For poor catchers, there was an interaction between hand preference and posture; significant improvement was evident only when they used the preferred hand in the sitting condition. The finding that manipulation of posture and hand preference affected performance outcomes indicates that perceptual skill is not the only influence on catching performance in children. Manipulation of those key constraints may facilitate the acquisition of catching skill, but more research is needed to determine the permanence of those effects.     

Characteristics of auditory agnosia in a child with severe traumatic brain injury: a case report

We present a case that is unusual in many respects from other documented incidences of auditory agnosia, including the mechanism of injury, age of the individual, and location of neurological insult. The clinical presentation is one of disturbance in the perception of spoken language, music, pitch, emotional prosody, and temporal auditory processing in the absence of significant deficits in the comprehension of written language, expressive language production, or peripheral auditory function. Furthermore, the patient demonstrates relatively preserved function in other aspects of audition such as sound localization, voice recognition, and perception of animal noises and environmental sounds. This case study demonstrates that auditory agnosia is possible following traumatic brain injury in a child, and illustrates the necessity of assessment with a wide variety of auditory stimuli to fully characterize auditory agnosia in a single individual.     

Paralinguistic processing in children with callosal agenesis: emergence of neurolinguistic deficits

Recent research revealed impaired processing of both nonliteral meaning and affective prosody in adults with agenesis of the corpus callosum (ACC) and normal intelligence. Since normal children have incomplete myelination of the corpus callosum, it was hypothesized that paralanguage deficits in children with ACC would be less apparent relative to their peers. The Familiar and Novel Language Comprehension Test (FANL-C) and Prosody Test were given to 18 children with ACC and normal intelligence and 17 controls matched for age (7-13 years), education, and IQ (83-122). When controlling for age, children with ACC were significantly poorer in comprehension of the precise meaning of both literal and nonliteral items on the FANL-C. Adults with ACC had previously been shown to have difficulty only on nonliteral items. The effect size for nonliteral comprehension in children with ACC was smaller than that seen in adults. There was only a trend for the child ACC group to perform worse on the recognition of affective prosody. Thus, while deficits in paralinguistic processing were apparent, children with ACC were not as clearly different from age peers as adults, and were equally deficient at comprehending literal and nonliteral expressions. The differences in results between adults and children with ACC are thought to reflect incomplete callosal development in normal children, and the importance of the corpus callosum in the early stages of the development of the ability to process literal language.     

Female Japanese quail (Coturnix japonica) mated with males that harassed them are unlikely to lay fertilized eggs

Results of previous studies of courtship and mating in Japanese quail (Coturnix japonica) suggest that females avoid conspecific males because, while courting and mating, males engage in behaviors that are potentially injurious to females. However, prior experiments provided no direct evidence that females avoided harassing males. Here the authors show that a female quail choosing between a previous sex partner and an unfamiliar male avoids the former if he engaged in relatively many potentially injurious acts while courting and mating, (Experiments 1 and 2) and that males behaving aggressively toward mates are less likely than are gentler males to fertilize the females' eggs (Experiment 3). Male sexual harassment appears to be a tactic both aversive to female quail and relatively ineffective in fertilizing them.     

Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are based on clinical experience, review of pertinent English language articles, and reports of expert committees. 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.     

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.