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.     

A cognitive tool to diagnose predominantly inattentive ADHD behavior

Poor performance on tests of reading comprehension could be the result of weak word-recognition skills, inconsistent attention (ADD), or a combination of the two. Identifying the source of the reading disability (RD) reliably has been difficult because inconsistent attention interferes with reading and weak word recognition skill makes attention wander. The situation is further complicated by the fact that there are no objective diagnostic tests for ADD (Breggin, 1998; Diller, 1998). We proposed a new model of differential diagnosis of ADHD-I/RD and field-tested its utility in two studies. The new diagnostic procedure utilizes intra-individual differences seen in the performance of at-risk learners on tasks related to reading that vary in the degree of sustained attention required for successful performance. The hypothesis is that children whose attention is inconsistent would perform more poorly on tests such as listening comprehension, which require sustained attention, than on tests such as reading comprehension, which are more tolerant of inattention. Such differences will not be seen in the test scores of children who have only a reading disability because their performance on reading tests is determined more by the difficulty level of the tests than by the sensitivity of the tests to attention. The validity of this new model was evaluated by determining the relationship between differences seen in the scores of tests that differ in their attention requirement and the degree of inconsistency in sustained attention as measured by Conners' CPT. The results of the two studies indicate this to be a viable approach. The results of the second study are presented in this report.     

Transitions to and from asymmetrical gait patterns

Asymmetrical gait patterns such as the gallop provide insight into the complexity of human locomotion. The nature of spontaneous (e.g., walk-run), quasi-spontaneous (e.g., gallop-walk), and intentional (e.g., walk-gallop) transitions was analyzed in 2 ways in the present study. In Analysis 1, the authors used step-wise regression to associate 10 physical characteristics with gait transitions. Transition predictability was moderate; thigh length best predicted 3 of 6 transitions. In Analysis 2, the dynamic characteristics of transitions (order parameters, phase shifts, multistability, and critical fluctuations) were described; those characteristics existed for all transition types. The results of the analyses suggest that intentional transitions are less biomechanically predictable than are spontaneous transitions and that transitions between gait pairs (e.g., walk-gallop and gallop-walk), regardless of velocity direction, have more in common than do transitions requiring specific intention.     

The effects of motor neurone disease on language: further evidence

It might sound surprising that Motor Neurone Disease (MND), regarded still by many as the very example of a neurodegenerative disease affecting selectively the motor system and sparing the sensory functions as well as cognition, can have a significant influence on language. In this article we hope to demonstrate that language dysfunction is not only a pronounced and well documented symptom in some MND patients but also that the study of language in MND can address interesting theoretical questions about the representation of language and conceptual knowledge in the brain. After a brief introduction delineating clinical and pathological features of the disease we discuss the evidence available in the literature for language dysfunction in MND. We then present linguistic data from our own study of seven patients with MND/dementia/aphasia syndrome focusing on the dissociation between noun and verb processing. To illustrate the clinical, neuropsychological and linguistic aspects of MND we describe in more detail the patient E.N., a pathologically confirmed case of MND/dementia. Finally, we attempt to characterise the nature of the linguistic impairment in MND in the light of current debates about the mechanisms underlying noun/verb dissociation.     

The role of video in facilitating perception and action of a novel coordination movement

Two groups (n = 10 in each) practiced a novel, bimanual coordination pattern that was demonstrated on video. One of the groups received augmented video feedback of their own responses after each trial following a demonstration. The video-feedback group showed better performance in acquisition and retention than the no-feedback group. On error-detection tests, the video-feedback group was better able to distinguish between correct and incorrect movement patterns. The authors concluded that video feedback helps to make relative phase information salient by aiding the discrimination process. Prepractice ability on a scanning task revealed that individuals who persevered with in-phase-type movements, even though the task demands dictated otherwise, had the most difficulty determining and subsequently performing the required movement. Video feedback helped them to compensate for those difficulties.     

Skewed autonomy-relatedness in preadolescents' conceptions of their relationships with mother, father, and best friend.

Healthy adaptation within all close relationships--whether with parents, friends, or romantic partners--involves striking a balance between connectedness to and independence from the relationship partner. For some individuals, adaptation within one or more relationships is skewed, or characterized by either an excessive concern for closeness that impedes autonomy (preoccupied stance) or an excessive concern for autonomy that inhibits closeness (avoidant stance). In this study with boys and girls aged 9-14 years, children who reported a preoccupied or avoidant stance toward their mother displayed increased social impairment in the peer group over time. There were predictable associations among children's stances toward mother, father, and best friend. Children resembled their best friend in relationship stance. The study illustrates the advantages of applying common relationship constructs (e.g., autonomy-relatedness) to the study of diverse close relationships.     

Is a picture worth a thousand words? Evidence from concept definitions by patients with semantic dementia

Nine patients with semantic dementia (the temporal lobe variant of frontotemporal dementia) were asked to define concrete concepts either from presentation of a picture of the object or from its spoken name. As expected, the patients with the most severe semantic impairment produced the least detailed definitions, and the quality of the definitions overall was significantly related to concept familiarity. Further analyses of the definitions were designed to assess two key theoretical aspects of semantic organization. (i) Do objects and their corresponding names activate conceptual information in two neuroanatomically separable (modality-specific) semantic systems? If so, then-apart from any expected commonality in performance attributable to factors such as concept familiarity-one would not predict striking item-specific similarities in a patient's picture- and word-elicited definitions. (ii) Do sensory/perceptual features and more associative/functional attributes of conceptual knowledge form two neuroanatomically separable subsystems? If so, then one would predict significant dissociations in the prominence of these two types of information in the patients' definitions. The results lead us to favor a model of the semantic system that is divided by attribute type but not by modality.