Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.

Tatton-Brown-Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A gene. We report four patients with this syndrome due to de novo DNMT3A pathogenic variants, contributing to a deeper understanding of the genetic basis and pathophysiology of this autosomal dominant syndrome. Clinical and magnetic resonance imaging assessments were also performed. All patients showed corpus callosum anomalies, small posterior fossa, and a deep left Sylvian fissure; as well as asymmetry of the uncinate and arcuate fascicles and marked increased cortical thickness. These results suggest that structural neuroimaging anomalies have been previously overlooked, where corpus callosum and brain tract alterations might be unrecognized neuroimaging traits of TBRS syndrome caused by DNMT3A variants.

The development of selective stopping: Qualitative and quantitative changes from childhood to early adulthood.

Although progress has been made in elucidating the behavioral and neural development of global stopping across the lifespan, little is known about the development of selective stopping. This more complex form of inhibitory control is required in real-world situations where ongoing responses must be inhibited to certain stimuli but not others, and can be assessed in laboratory settings using a stimulus selective stopping task. Here we used this task to investigate the qualitative and quantitative developmental changes in selective stopping in a large-scale cross-sectional study with three different age groups (children, preadolescents, and young adults). We found that the ability to stop a response selectively to some stimuli (i.e., use a selective strategy) rather than non-selectively to all presented stimuli (i.e., use a global, non-selective strategy) is fully mature by early preadolescence, and remains stable afterwards at least until young adulthood. By contrast, the efficiency or speed of stopping (indexed by a shorter stop-signal reaction time or SSRT) continues to mature throughout adolescence until young adulthood, both for global and selective implementations of stopping. We also provide some preliminary findings regarding which other task variables beyond the strategy and SSRT predicted age group status. Premature responding (an index of "waiting impulsivity") and post-ignore slowing (an index of cognitive control) were among the most relevant predictors in discriminating between developmental age groups. Although present results need to be confirmed and extended in longitudinal studies, they provide new insights into the development of a relevant form of inhibitory control.

The effects of discrimination on the adoption of different strategies in selective stopping.

Selective stopping is demanded in situations where responses must be suppressed to certain signals, but not others. To explore this type of inhibition, the standard stop-signal task has been modified to include a selective implementation of response inhibition by introducing a new stimulus that participants should ignore. However, a stimulus-selective stop-signal task can be performed following different strategies. Some participants fulfill the selective implementation of the stopping process after discriminating the stop and ignore signals, but some others stop the ongoing response whenever any new stimulus appears. The factors that influence this strategy choice are being explored, where both task and participant variables are under consideration. This study aimed to investigate whether the difficulty in discriminating between stop and ignore signals influences strategy adoption. Additionally, we examined whether participants modify their strategy in a flexible manner throughout the task in alternating easy and hard discrimination condition blocks. In the easy discrimination condition, the stop and the ignore signals differed both in color and shape, whereas in the hard discrimination condition, they only differed in shape. Our results from 64 participants revealed that manipulating the difficulty of signal discrimination strongly influenced strategy choice. Also, we found that participants can adapt their strategy according to task demands. They preferentially adopted a selective stopping strategy when discrimination was easy, whereas they changed to a nonselective stopping strategy under the hard discrimination condition. Overall, results from the current study suggest that signal discrimination difficulty influences the adoption of strategies in selective stopping.

Selective Inhibitory Control in Middle Childhood.

The main aim of this study was to investigate the development of selective inhibitory control in middle childhood, a critical period for the maturation of inhibition-related processes. To this end, 64 children aged 6-7 and 56 children aged 10-11 performed a stimulus-selective stop-signal task, which allowed us to estimate not only the efficiency of response inhibition (the stop-signal reaction time or SSRT), but also the strategy adopted by participants to achieve task demands. We found that the adoption of a non-selective (global) strategy characterized by stopping indiscriminately to all stimuli decreased in older children, so that most of them were able to interrupt their ongoing responses selectively at the end of middle childhood. Moreover, compared to younger children, older children were more efficient in their ability to cancel an initiated response (indexed by a shorter SSRT), regardless of which strategy they used. Additionally, we found improvements in other forms of impulsivity, such as the control of premature responding (waiting impulsivity), and attentional-related processes, such as intra-individual variability and distractibility. The present results suggest that middle childhood represents a milestone in the development of crucial aspects of inhibitory control, including selective stopping.

The association of monoamine-related gene polymorphisms with behavioural correlates of response inhibition: A meta-analytic review.

Response inhibition has been shown to be associated with monoamine-related gene polymorphisms, although evidence is inconclusive. To comprehensively examine these genotype effects on behavioural correlates of response inhibition in non-clinical adult populations, we performed a two-step approach. A systematic review of studies using Go/No-Go and/or Stop-Signal paradigms was first carried out. Thirty-eight eligible research articles were identified, which examined over 15 candidate genes. Remarkably, no firm conclusions could be drawn from these studies. Thus, in a second step, we conducted meta-analyses using random effects models on those polymorphisms that had previously been investigated in at least three studies. Specifically, data from 11 studies was analysed in three meta-analyses for the following polymorphisms: SLC6A3 3'UTR VNTR (k=6 samples; n=1463 participants), COMT Val158Met SNP (k=7 samples; n=784) and SLC6A4 5-HTTLPR (k=4 samples, n=204). None of these polymorphisms showed a reliable association with response inhibition performance. The methodological and theoretical implications of these findings are discussed, along with recommendations for future research.

The Madrid Affective Database for Spanish (MADS): Ratings of Dominance, Familiarity, Subjective Age of Acquisition and Sensory Experience.

The current study presents ratings by 540 Spanish native speakers for dominance, familiarity, subjective age of acquisition (AoA), and sensory experience (SER) for the 875 Spanish words included in the Madrid Affective Database for Spanish (MADS). The norms can be downloaded as supplementary materials for this manuscript from https://figshare.com/s/8e7b445b729527262c88 These ratings may be of potential relevance to researches who are interested in characterizing the interplay between language and emotion. Additionally, with the aim of investigating how the affective features interact with the lexicosemantic properties of words, we performed correlational analyses between norms for familiarity, subjective AoA and SER, and scores for those affective variables which are currently included in the MADs. A distinct pattern of significant correlations with affective features was found for different lexicosemantic variables. These results show that familiarity, subjective AoA and SERs may have independent effects on the processing of emotional words. They also suggest that these psycholinguistic variables should be fully considered when formulating theoretical approaches to the processing of affective language.