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.     

Government initiatives in autism clinical trials

Randomized clinical trials remain the most valid method of testing the efficacy and safety of treatments. While efforts to elucidate the genetic and neurodevelopmental bases of autism are underway, clinicians and families are in need of scientifically valid information on how to best treat patients with autism. The effectiveness of many interventions currently used in communities has not been adequately tested. Given the high public health relevance of autism treatment research and the low interest of the pharmaceutical industry in autism, the role of the National Institutes of Health in supporting this research is paramount. Among recently launched initiatives in autism clinical trials, there are the Research Units on Pediatric Psychopharmacology Autism Network and the network of centers for Studies to Advance Autism Research and Treatment. These and other government activities in the area of autism clinical trials are here briefly reviewed.     

Impact of recent findings on study design of future autism clinical trials

There are specific challenges to studying the design of pharmacologic trials in child/adolescent and adult autism, such as subject stratification and parallel versus crossover designs. This article describes how optimal study design is influenced by subject selection and outcome measures chosen. Lessons learned in study design from the Research Units on Pediatric Psychopharmacology Autism Network trial with risperidone, Seaver Center trials with fluoxetine and valproate, Dartmouth trials with amantadine, and National Institutes of Health secretin trials are highlighted. The Internet System for Assessing Autistic Children system for managing multicenter clinical trials in autism and statistical issues in autism research are also described.     

Developmental changes in facial expressions of emotions in the strange situation during the second year of life

Infants' expressions of discrete emotions were coded during the more stressful episodes (4 through 8) of the Strange Situation at 13 and 18 months. The data showed a significant decrease in full-face expressions (more complex configurations of movements) and a significant increase in component expressions (simpler and more constrained patterns of movements). The authors interpreted this trend as a developmental change toward more regulated and less intense emotions. Consistent with this view, the aggregate index of infants' full-face negative emotion expressions, interpreted as reflecting relatively unregulated intense emotions, correlated significantly with maternal ratings of difficult temperament. The authors discuss alternative interpretations of the findings in terms of changes in reactivity/arousability and the emerging capacity for self-regulation.     

Do small white balls squeak? Pitch-object correspondences in young children

Adults with auditory-visual synesthesia agree that higher pitched sounds induce smaller, brighter visual percepts. We have hypothesized that these correspondences are remnants of cross-modal neural connections that are present at birth and that influence the development of perception and language even in adults and children without synesthesia. In this study, we explored these correspondences in preschoolers (30-36 months; n=12 per experiment). The children were asked to indicate which of two bouncing balls was making a centrally located sound. The balls varied in size and/or surface darkness; the sound varied in pitch. The children reliably matched the higher pitched sound to a smaller and lighter (white) ball (Experiment 1), to a lighter (white) ball (Experiment 2), and in one of two groups, to a smaller ball (Experiment 3). Children’s matching of pitch and size cannot be attributed to intensity matching or to learning. These data support the hypothesis that some cross-modal correspondences may be remnants of the neural mechanisms underlying neonatal perception.     

A structural analysis of working memory and related cognitive skills in young children

The aim of this study was to investigate the functional organisation of working memory and related cognitive abilities in young children. A sample of 633 children aged between 4 and 6 years were tested on measures of verbal short-term memory, complex memory span, sentence repetition, phonological awareness, and nonverbal ability. The measurement model that provided the best fit of the data incorporates constructs that correspond to the central executive, phonological loop, and episodic buffer subcomponents of working memory, plus distinct but associated constructs associated with phonological awareness and nonverbal ability.     

Strategy choices in simple and complex addition: Contributions of working memory and counting knowledge for children with mathematical disability

Groups of first-grade (mean age = 82 months), third-grade (mean age = 107 months), and fifth-grade (mean age = 131 months) children with a learning disability in mathematics (MD, n = 58) and their normally achieving peers (n = 91) were administered tasks that assessed their knowledge of counting principles, working memory, and the strategies used to solve simple (4+3) and complex (16+8) addition problems. In all grades, the children with MD showed a working memory deficit, and in first grade, the children with MD used less sophisticated strategies and committed more errors while solving simple and complex addition problems. The group differences in strategy usage and accuracy were related, in part, to the group difference in working memory and to group and individual differences in counting knowledge. Across grade-level and group, the switch from simple to complex addition problems resulted in a shift in the mix of problem-solving strategies. Individual differences in the strategy mix and in the strategy shift were related, in part, to individual differences in working memory capacity and counting knowledge.     

Why 8-year-olds cannot tell the difference between Steve Martin and Paul Newman: factors contributing to the slow development of sensitivity to the spacing of facial features

Children are nearly as sensitive as adults to some cues to facial identity (e.g., differences in the shape of internal features and the external contour), but children are much less sensitive to small differences in the spacing of facial features. To identify factors that contribute to this pattern, we compared 8-year-olds' sensitivity to spacing cues with that of adults under a variety of conditions. In the first two experiments, participants made same/different judgments about faces differing only in the spacing of facial features, with the variations being kept within natural limits. To measure the effect of attention, we reduced the salience of featural information by blurring faces and occluding features (Experiment 1). To measure the role of encoding speed and memory limitations, we presented pairs of faces simultaneously and for an unlimited time (Experiment 2). To determine whether participants' sensitivity would increase when spacing distortions were so extreme as to make the faces grotesque, we manipulated the spacing of features beyond normal limits and asked participants to rate each face on a "bizarreness" scale (Experiment 3). The results from the three experiments indicate that low salience, poor encoding efficiency, and limited memory can partially account for 8-year-olds' poor performance on face processing tasks that require sensitivity to the spacing of features, a kind of configural processing that underlies adults' expertise. However, even when the task is modified to compensate for these problems, children remain less sensitive than adults to the spacing of features.     

Dual diagnosis in an Australian forensic psychiatric hospital: prevalence and implications for services

Despite a growing awareness of the unique needs of psychiatric patients with co-occurring substance abuse and dependence disorders (i.e. dual diagnosis), there is a dearth of research investigating the prevalence of dual diagnosis in forensic psychiatric populations. Similarly, little work has been done to determine the implications of dual diagnosis for forensic psychiatric patients. Patients at the Thomas Embling Hospital in Victoria, Australia, were assessed to determine the prevalence of substance abuse disorders and mental illnesses within this population. Results reveal that the majority of patients (approximately 74%) have a lifetime substance abuse or dependence disorder. Information was collected concerning patients' criminal histories and the Level of Service Inventory, Revised, was completed for each patient who participated. Results suggest that patients with both major mental illnesses and substance abuse disorders have more extensive criminal histories and demonstrate a higher level of risks and needs when compared with patients with major mental illness alone. The implications for the development and delivery of effective forensic mental health services that address both co-occurring disorders are also discussed.