Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results

Rapid advances in the genetics of amyotrophic lateral sclerosis (ALS) have dramatically changed the approach of clinicians and researchers to the motor neuron diseases. We report two siblings in whom the genetic study provided conflicting results, hence raising a number of issues which deserve to be considered by clinicians involved in genetic testing for ALS. The first patient died within 2 years of ALS onset, while her brother still manages to walk unaided, 7 years into onset. Genetic analyses, performed on the first patient as part of a research protocol, and as clinical genetic testing on the brother, provided different results. Results for Patient 1 were negative for all investigated genes, thus suggesting that her disease may be a phenocopy, while her brother carried an autosomal dominant TARDBP mutation (p.A382T). A multidisciplinary approach may help patients and clinicians face the emerging dilemmas in such a complex field. Sharing and updating of advances, not to mention uncertainties inherent to current knowledge, with patients and families may prove to be an effective way to support them and to make them aware of the present limits of our knowledge and of the blurred border between research and clinical practice.     

How Does Confucianism Influence Health Behaviors,Health Outcomes and Medical Decisions? A Scoping Review

Journal of Religion and Health - The aim of this study is to analyze the influence of Confucianism on health behaviors, health outcomes and medical decisions. The research was conducted using the...     

What makes a word so attractive? Disclosing the urge to read while bisecting

Expert readers have been repeatedly reported to misperceive the centre of visual stimuli, shifting systematically to the left the bisection of any lines (pseudoneglect) while showing a cross-over effect while bisecting different types of orthographic strings (Arduino et al., 2010, Neuropsychologia, 48, 2140). This difference has been attributed to asymmetrical allocation of attention that visuo-verbal material receives when lexical access occurs (e.g., Fischer, 2004, Cognitive Brain Research, 4, 163). The aim of this study was to further examine which visual features guide recognition of potentially orthographic materials. To disentangle the role of orthography, heterogeneity, and visuo-perceptual discreteness, we presented Italian unimpaired adults with four experiments exploiting the bisection paradigm. The results showed that a cross-over effect emerges in most discrete strings, especially when their internal structure, that is being composed of heterogeneous elements, is suggestive of orthographically relevant material. Interestingly, the cross-over effect systematically characterized the processing of letter strings (Experiment 2) and words (Experiments 3 and 4), whether visually discrete or not. Overall, this pattern of results suggests that neither discreteness nor heterogeneity per se are responsible for activating visual scanning mechanisms implied in text exploration, although both contribute to increasing the chance of a visual stimulus undergoing a perceptual analysis dedicated to pre-lexical processing.     

Do updating tasks involve updating? Evidence from comparisons with immediate serial recall

Updating tasks require participants to process a sequence of items, varying in length, and afterwards to remember only a fixed number of the elements of the sequence; the assumption being that participants actively update the to-be-recalled list as presentation progresses. However recent evidence has cast doubt on this assumption, and the present study examined the strategies that participants employ in such tasks by comparing the serial position curves found in verbal and visuo-spatial updating tasks with those seen in standard serial recall tasks. These comparisons showed that even when the same number of items are presented or recalled, participants perform less well in an updating than a serial recall context. In addition, while standard serial position effects were observed for serial recall, marked recency and reduced or absent primacy effects were seen in updating conditions. These findings suggest that participants do not typically adopt a strategy of actively updating the memory list in updating tasks, but instead tend to wait passively until the list ends before trying to recall the most recently presented items.     

Children’s Coping Strategies to Inter-Parental Conflict: The Moderating Role of Attachment

In the literature on inter-parental conflict, little attention has been paid to the relationships among children’s attachment, coping strategies, and coping efficacy. The present study aims to explore whether and how children’s Internal Working Models of attachment moderate the associations among children’s perceived distress during the conflict, coping strategies, and coping efficacy. One hundred eighty-two school-aged children (87 secure, 46 anxious-ambivalent and 49 avoidant) and their parents completed measures of inter-parental conflict, attachment, coping strategies, and coping efficacy. The results indicate that children with different IWMs varied in the relations between coping strategies and coping efficacy. More precisely, the data show that secure children, when distressed, use the all of the coping strategies investigated, but the only ones that mediate the associations between their distress reactions and perceived coping efficacy were the positive cognitive restructuring strategies and the seeking support for feelings strategies. Avoidant children, when distressed, use higher levels of distraction and avoidance strategies and avoidance strategies mediated the effects of the children’s distress reactions on their coping inefficacy. Finally, anxious-ambivalent children, when distressed, activate all the coping strategies, with the exception of distraction and support for feelings. However, none of the strategies are correlated to their perceived coping efficacy.     

Increases in Intrusion Errors and Working Memory Deficit of Poor Comprehenders

This study tests the hypothesis that the ability to inhibit already processed and actually irrelevant information could influence performance in the listening span test (Daneman & Carpenter, 1980) and have a crucial role in reading comprehension. In two experiments, the listening span test and a new working memory test were given to two groups of young adults, poor and good comprehenders, matched for logical reasoning ability. In Experiment 1, the poor comprehenders had a significantly lower performance in the listening span test associated to a higher number of intrusions-that is, recalled words that, in spite of being in sentence form, were not placed in the last position. In Experiment 2, a new working memory test was devised in order to analyse more effectively the occurrence of intrusions. Subjects were required to listen to a growing series of strings of animal and non-animal words. Whilst listening, they had to detect when an animal word occurred, and at the end of each series they had to recall the last word of each string. The poor comprehenders obtained a significantly lower performance in the memory task and made a higher number of intrusions, particularly of animal words.     

The role of interference control in working memory: a study with children at risk of ADHD

The study aimed to test whether the impairment in a working memory task observed in children at risk of ADHD was due to a lack of control of interfering information being processed whilst carrying out the memory task. Two groups of children at risk of ADHD with or without a learning disability (reading impairment) were compared to a control group in a working memory task. Activation of irrelevant items was tested with a lexical decision task presented immediately after the final recall in about half of the trials. Results showed a poor working memory performance in children at risk of ADHD and reading disability associated with a larger activation of irrelevant information than that of control children. Results indicated that the to-be-excluded and interfering items are still highly accessible to working memory in children that fail the working memory task. The examination of working memory and interference control of children at risk of ADHD with a learning disability revealed a counterintuitive picture of children with poor working memory showing better recall/activation of processed information. This picture is consistent with a view of working memory related to an efficient inhibitory control that influences cognitive functioning.