Psychological Follow-up of Presymptomatic Genetic Testing for Spinocerebellar Ataxia Type 2 (SCA2) in Cuba

Presymptomatic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba started five years ago. We have now investigated the psychological impact of test results on 150 individuals at 50% risk for SCA2. In a prospective study, psychological instruments were used to evaluate depression, anxiety and family functioning (1) before testing and (2) one year after disclosure of the test result. One year after, anxiety and depression levels decreased both in carriers and non-carriers, but anxiety decreased significantly more in carriers. Pathological levels of anxiety were seen mostly in members of dysfunctional families, but decreased more in them than in other consultands. Presymptomatic testing thus seems to have been especially beneficial for these testees, possibly due to a greater gain from the psychosocial support received. It would be pertinent to evaluate now the impact of other psychosocial variables and perform longer-term longitudinal studies.     

Children's initial sleep‐associated changes in motor skill are unrelated to long‐term skill levels

Sleep is considered to support the formation of skill memory. In juvenile but not adult song birds learning a tutor's song, a stronger initial deterioration of song performance over night‐sleep predicts better song performance in the long run. This and similar observations have stimulated the view of sleep supporting skill formation during development in an unsupervised off‐line learning process that, in the absence of external feedback, can initially also enhance inaccuracies in skill performance. Here we explored whether in children learning a motor sequence task, as in song‐learning juvenile birds, changes across sleep after initial practice predict performance levels achieved in the long run. The task was a serial reaction time task (SRTT) where subjects had to press buttons which were lighted up in a repeating eight‐element sequence as fast as possible. Twenty‐five children (8–12 years) practised the task in the evening before nocturnal sleep which was recorded polysomnographically. Retrieval was tested on the following morning and again 1 week later after daily training on the SRTT. As expected, changes in response speed over the initial night of sleep were negatively correlated with final performance speed after the 1‐week training. However, unlike in song birds, this correlation was driven by the baseline speed level achieved before sleep. Baseline‐corrected changes in speed or variability over the initial sleep period did not predict final performance on the trained SRTT sequence, or on different sequences introduced to assess generalization of the trained behaviour. The lack of correlation between initial sleep‐dependent changes and long‐term performance might reflect that the children were too experienced for the simple SRTT, possibly also favouring ceiling effects in performance. A consistent association found between sleep spindle activity and explicit sequence knowledge alternatively suggests that the expected correlation was masked by explicit memory systems interacting with skill memory formation.     

The perception of visually presented yaw and pitch turns: assessing the contribution of motion, static, and cognitive cues

Terrestrial gravity restricts human locomotion to surfaces in which turns involve rotationsaround the body axis. Because observers are usually upright, one might expect the effects of gravity to induce differences in the processing of vertical versus horizontal turns. Subjects observed visual scenes of bending tunnels, either statically or dynamically, as if they were moving passively through the visual scene and were then asked to reproduce the turn deviation of the tunnel with a trackball. In order to disentangle inertia-related (earth-centered) from vision-related (body-centered) factors, the subjects were either upright or lying on their right side during the observations. Furthermore, the availability of continuous optic flow, geometrical cues, and eye movement were manipulated in three experiments. The results allowed us to characterize the factors' contributions as follows. Forward turns (pitch down) with all cues were largely overestimated, as compared with backward turns (pitch up). First, eye movements known to be irregular for vertical stimulation were largely responsible for this asymmetry. Second, geometry-based estimations are, to some extent, asymmetrical. Third, a cognitive effect corresponding to the evaluation of navigability for upward and downward turns was found (i.e.,top-down influences, such as the fear of falling often reported), which tended to increase the estimation of turns in the direction of gravity.     

Effectiveness of an empirically supported treatment for social phobia in the field

This study examined the effectiveness of individual exposure combined with cognitive restructuring for social phobia in a clinical setting as well as the influence of sample restriction criteria on the effect size. Participants were 217 unselected patients with a primary diagnosis of social phobia who were treated by 57 therapists in four outpatient clinics of the Christoph-Dornier-Foundation of Clinical Psychology in Germany. Results 6 weeks after the end of therapy showed highly significant reductions in social phobic fears and avoidance as well as in general anxiety and symptoms of depression. However, patients who dropped out during therapy reported a significantly higher degree of depression. Results did not differ between the four outpatient clinics and are comparable with the average effect-sizes reported by meta-analytic studies of controlled efficacy research, using selected patients. Also, restricting the sample according to the selection criteria often applied in research settings did not result in higher effect sizes for the applied outcome measures. We conclude that individual cognitive behavioural therapy for social phobia can be transported from research settings to the field of mental health.     

Can't quite commit: rumination and uncertainty

Why do some individuals persist in self-destructive rumination? Two studies investigated the relation between a ruminative response style and the reluctance to initiate instrumental behavior. In Study 1, ruminators were compared to nonruminators regarding their evaluation of a self-generated plan to revise their university housing system and, in Study 2, concerning their plan to redesign the undergraduate curriculum. In both studies, on relevant composite measures, ruminators expressed less satisfaction and confidence with regard to their plans than did nonruminators. They were also less likely to commit to the plans they generated. The findings suggest that in addition to its documented detrimental effects on thinking and problem solving, self-focused rumination may inhibit instrumental behavior by increasing uncertainty, resulting in further rumination and behavioral paralysis.     

Development and structural dynamics of personal life investment in old age

The development of personal life investment (PLI) during old age was investigated with longitudinal and cross-sectional data from the Berlin Aging Study (N = 516, ages = 70-103 years). PLI measures motivational energy expended in life domains that require (obligatory PLI) or do not require (optional PLI) investment in old age. The authors used structural modeling to determine developmental trajectories and dynamics of the PLI types. On average, obligatory PLI remained unchanged between 70 and 101 years. Optional PLI declined during the transition to the 4th age (between 80 and 90 years). When change on the intraindividual level was considered, reductions in optional PLI were not related to changes in obligatory PLI, but declining obligatory PLI was associated with declining optional PLI.     

Response conflict determines sequential effects in serial response time tasks with short response-stimulus intervals

In serial choice reaction time (RT) tasks, performance in each trial critically depends on the sequence of preceding events. In this study, the authors specifically examined the mechanism underlying RT sequence effects at short response-stimulus intervals (RSIs), in which performance is impaired in the current trial N if events alternate rather than repeat from trial N-2 to trial N-1. Different accounts of this RT pattern in terms of perceptual noise, response-selection monitoring, and response conflict were tested in 4 experiments. Second-order RT costs were caused by the response sequence rather than the stimulus sequence. Manipulation of stimulus contrast, stimulus classification difficulty, and set-level compatibility did not modulate the response-related second-order RT effect, whereas this effect increased when spatially incompatible responses were demanded. These findings support a response conflict account of higher order sequential effects in short-RSI situations.     

Functional localization and mechanisms of sequential effects in serial reaction time tasks

Reaction times (RTs) to randomly ordered stimuli are influenced in various ways by the sequence of preceding events. Depending on the response-stimulus interval and stimulus-response compatibility, cost-only or cost-benefit patterns can be observed. In order to localize these effects within the information-processing system, different sequential patterns were induced in overt performance. RTs and amplitude developments of the lateralized readiness potential (LRP) across several trials indicated the accumulation of residual traces as a possible mechanism underlying sequential effects. Analysis of LRP onsets indicated two possible loci of action of such traces. Whereas in motoric stages trace accumulation appeared to produce processing advantages only for continued event repetitions, without corresponding costs for discontinuations, cost-benefit patterns were consistently observed in premotoric stages.     

Multifamily interventions in the context of inherited genetic conditions: A scoping review

This scoping review sought to examine the existing literature on multifamily interventions with families dealing with inherited genetic conditions. It also seeks to identify gaps in the evidence to help guide future research and intervention development. Four databases (PubMed, Web of Sciences, Scopus and PsycInfo) were systematically searched and analysed, resulting in five publications for inclusion. The main findings evidence two main themes: characteristics of multifamily interventions, and evaluation of the intervention and impact on participants. These findings suggest that multifamily interventions can provide families with extended support beyond the care usually offered by genetic healthcare services and contribute to enhancing positive change in key aspects of adaptation and coping with an inherited genetic conditions. Multifamily discussion groups are a methodology that is particularly suitable when working with families in this context. Collaboration between genetic healthcare services and accredited systemic family therapists is required to sustain the implementation of multifamily discussion groups and their feasibility. Research on the effectiveness, feasibility and economic viability of multifamily interventions is also needed.