Genetic Counseling Dilemmas for a Patient with Sporadic Amyotrophic Lateral Sclerosis,Frontotemporal Degeneration & Parkinson’s Disease

Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson’s disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause. It is known that genetic testing should be preferentially offered to patients with ALS who have affected first or second-degree relatives. However, this case illustrates the importance of genetic counseling for family members of patients with sporadic ALC-PDC in order to provide education on the low recurrence risk. Here, we dicuss the ethical, psychological and practical consequences for patients and their relatives.     

A corpus-based analysis of verb continuation frequencies for syntactic processing

In the experimental study of how much verb guidance occurs in parsing syntactic ambiguity, the preference of an ambiguously subcategorized verb for its continuations is a relevant factor in the choice of the stimuli and in the interpretation of the results. Many methods have been used to measure this bias, ranging from experimenter's intuitions to sentence completion studies. In this paper, I assume that an acceptable definition of frequency is the count of the occurrences in a corpus, and I provide some cooccurrence counts calculated on a set of verbs and their syntactic siblings in a subset of the Penn Treebank (Marcus, Santorini, & Marcinkiewicz, 1993). Second, I perform some correlations with sentence completion and sentence production studies, which show that the two data collection methods are not strongly correlated with the corpus counts. Finally, I analyze the stimuli of some experiments which have shown evidence both in favor of the garden path theory of sentence processing and the lexical guidance theory. I argue that all the stimuli were balanced, and that a minimal attachment effect is not a consequence of the overall NP-bias of the stimuli. Moreover, evidence from the relation between processing times and verb completions with declarative and interrogative complementizers is used to argue that the parser is sensitive to the lexical content of the complementizers.     

Content-context binding in verbal working memory updating: on-line and off-line effects

The role of content–context binding in working memory updating has received only marginal interest, despite its undoubted relevance for the updating process. In the classical updating paradigm, the main focus has been on the process of discarding information when new information is presented. Its efficacy has been determined by measurement of the accuracy of recalled, updated information. In the current study we measured the working memory updating process directly, employing a dynamic memory task composed of alternating sequences of learning, active maintenance and updating phases. Binding was manipulated by changing the type of updating (total or partial) and the strength of the perceptual connection between items. The on-line updating process and the off-line efficacy were separately analysed. Both on-line and off-line measures indicated that partial updating conditions, where the operation of updating content–context binding was required, were more demanding than both total updating conditions and memory and maintenance phases. Our results suggest that working memory updating can be identified not only as a process of substitution of information, but also as inhibition of no longer relevant information and, above all, as a binding updating.     

What happens to information to be suppressed in working-memory tasks? Short and long term effects

The study explored, from an individual differences point of view, what happens to information to be suppressed in a working-memory task at short and long term. In particular, it was examined whether control mechanisms of irrelevant information in working memory imply their complete elimination from working memory or just the modulation of their activation. To this end, we compared the fate of irrelevant information in groups of subjects with high and low reading comprehension (Experiments 1 and 2) and subjects with high and low working memory (Experiments 1, 2, 3, and 4). All the experiments presented a working-memory task devised by De Beni, Palladino, Pazzaglia, and Cornoldi (1998), which required participants to process lists of words, to tap when a word from a particular category was presented, and then to recall only the last items in each list. Results confirmed that participants with high reading comprehension also have higher working memory and make less intrusion errors due to irrelevant items that have to be processed but then discarded. Furthermore, it was found that participants with low working memory have slightly better implicit (Experiment 1) and explicit memory (Experiments 3 and 4) of highly activated irrelevant information. Nevertheless, in a long-term recognition test, participants with high and low reading comprehension/working memory presented a similar pattern of memory for different types of irrelevant information (Experiment 2), whereas in a short-term memory recognition test, low-span participants presented a facilitation effect in the time required for the recognition of highly activated irrelevant information (Experiment 4). It was concluded that efficient working-memory performance is related to the temporary reduction of activation of irrelevant information but does not imply its elimination from memory.     

Auditory attention causes visual inattentional blindness

When engaged in a visual task, we can fail to detect unexpected events that would otherwise be very noticeable. Here we ask whether a common auditory task, such as that of attending to a verbal stream, can also make us blind to the presence of visual objects that we do not anticipate. In two experiments, one hundred and twenty observers watched a dynamic display while performing either a visual or an auditory attention task, or both simultaneously. When observers were listening to verbal material, in order to either understand it or to remember it (auditory task), their probability of detecting an unexpected visual object was no higher than when they were counting bounces of moving items (visual task), although in the former case the observers' eyes and attention could move around the display freely rather than remaining focused on tracked items. Previous research has shown that attending to verbal material does not affect responses to lights flashing at irregular intervals, suggesting that driving performance is not hampered by listening. The lights, however, were expected. Our data imply that listening to the radio while driving, or to a portable audio player while walking or biking, can impair our reactions to objects or events that we do not expect.     

Studying, Practicing, and Mastering: A Test of the Model of Goal-Directed Behavior (MGB) in the Software Learning Domain

The present study tested the model of goal-directed behavior (MGB). The model proposes that behavioral intentions to perform instrumental behaviors are primarily motivated by desires to perform the acts. In turn, desires mediate the effects of attitudes, subjective norms, perceived control, and anticipated emotions on intentions. Construct validity for MGB variables is assessed, and the predictive utility of the MGB is compared with that of the theory of planned behavior (TPB). College students ( N = 102) provided measures for MGB and TPB variables while participating in a training program to use statistical software. We focused on two goal-related instrumental behaviors: studying handbooks and practicing with the package. The results show that the MGB accounts for a greater proportion of variance in intentions and instrumental behaviors than does TPB. Although desires mediate most of the effects of other predictors on intentions to perform the instrumental behaviors, it is proposed that when the behavior is normatively relevant, or when self-efficacy appraisals play a major role, subjective norms and perceived behavioral control may directly affect intentions.     

Inhomogeneous surrounds, conflicting frameworks, and the double-anchoring theory of lightness

The empirical question of whether or not the lightness of a region is accounted for purely by the average luminance of its surround has a complex answer that depends on whether such a region is an increment, a decrement, or intermediate relative to the luminances of the contiguous surfaces. It is shown here that a new model of lightness, based on anchoring principles, predicts and clarifies such intricacies. In this model, the luminance of the target region determines its lightness in two ways: indirectly, by causing it to group with parts of its surround and thus defining the nested frameworks to which it belongs; and directly, by anchoring it to the highest luminance and to the average surround luminance in each of these frameworks. Inter- and intraindividual differences in lightness assessment are shown to emerge under grouping conditions that create unstable, conflicting frameworks.     

A neuropsychological assessment of dual-task costs in closed-head injury patients using Cohen’s effect size estimation method

A test of whether patients suffering from a severe closed-head injury (CHI) were affected by disproportionate dual-task costs compared to those of healthy control participants was carried out through a direct comparison of CHI effects on dual-task (psychological refractory period, or PRP) performance and on single-task performance. In the dual-task condition of the present experiment, independent choice-responses were required to two sequential stimuli presented at a variable stimulus onset asynchrony (SOA). A significant delay of the reaction time (RT) to the second stimulus was reported by both CHI patients and controls at short (SOA) compared to long SOA, i.e., a PRP effect. The PRP effect was more pronounced for CHI patients than controls. In the single-task condition, a single choice-response was required to a stimulus presented in isolation. The RT produced by CHI patients in the single-task paradigm was longer than the RT produced by controls. CHI effects on dual-task performance and on single-task performance were compared following (1) their transformation into Cohen’s ds, and (2) the application of a correction algorithm taking into account the different reliability of single-task and dual-task measures. The analysis of Cohen’s ds revealed that CHI effects on performance were, if anything, smaller in the dual-task condition than in the single-task condition. The results imply that CHI patient’s slower responding in single- and dual-task performance reflects a single common cause—slowing of the central processing.