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Bi-allelic mutations in the TUBGCP4 gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-old male patient with autism and a normal occipitofrontal circumference. No retinal abnormalities were observed. Brain MRI revealed the presence of enlarged sheaths of both tortuous optic nerves; both eyes had shorter axial lengths. Whole-exome sequencing in trio revealed synonymous TUBGCP4 variants in homozygous state: c.1746G>T; p.Leu582=. This synonymous variant has been previously described and probably leads to skipping of exon 16 of TUBGCP4. These results broaden the clinical spectrum of this new syndrome and suggest that TUBGCP4 bi-allelic mutations may underlie complex neurodevelopmental disorders.

Ser capaces de frenar impulsos que son inadecuados en un momento dado es una habilidad esencial en nuestras vidas. Esta habilidad se ha estudiado fundamentalmente en contextos simples que requieren inhibir una única respuesta ante un único estímulo. Sin embargo, en nuestro día a día es frecuente que tengamos que enfrentarnos a situaciones que requieren inhibir nuestras acciones ante unos estímulos, pero no ante otros. En este artículo presentamos los resultados de recientes estudios conductuales, cerebrales y genéticos sobre este tipo de inhibición, denominada selectiva, que nos ayudan a comprenderla y que abren la puerta a nuevas investigaciones.

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.

This study aims to contribute to a better understanding of attention deficit hyperactivity disorder (ADHD) by comprehensively examining the relationship between two of the main cognitive deficits of the disorder (attention and inhibitory control), symptomatology (inattention and hyperactivity/impulsivity) and functional impairment in 85 children and adolescents with ADHD without other comorbid disorders. We found, independent of general intellectual functioning and age, that i) greater attentional and inhibitory deficits predicted greater severity of ADHD symptoms, ii) greater attentional and inhibitory deficits predicted greater functional impairment, but not in a direct way but through symptoms, and iii) greater symptomatic severity predicted greater functional impairment. Beginning to explore and understand the complexity of ADHD is key to advance our knowledge of the disorder and for correct clinical decision making.Este estudio pretende contribuir a una mejor comprensión del trastorno por déficit de atención con hiperactividad (TDAH) examinado de manera exhaustiva la relación entre dos de los principales déficits cognitivos del trastorno (la atención y el control inhibitorio), la sintomatología (falta de atención e hiperactividad / impulsividad) y la repercusión funcional en 85 niños/as y adolescentes con TDAH sin otros trastornos comórbidos. Encontramos, con independencia del funcionamiento intelectual general y de la edad, que i) un mayor déficit atencional e inhibitorio, predijo una mayor gravedad de los síntomas del TDAH, ii) un mayor déficit atencional e inhibitorio predijo un mayor deterioro funcional, pero no de una manera directa sino a través de los síntomas, y iii) una mayor severidad sintomática predijo una mayor repercusión funcional. Comenzar a explorar y comprender la complejidad del TDAH es clave para avanzar en nuestro conocimiento del trastorno y para la correcta toma de decisiones clínicas.

Alpha-band oscillations (8–14 Hz) are essential for attention and perception processes by facilitating the selection of relevant information. Directing visuospatial endogenous (voluntary) attention to a given location consistently results in a power suppression of alpha activity over occipito-parietal areas contralateral to the attended visual field. In contrast, the neural oscillatory dynamics underlying the involuntary capture of attention, or exogenous attention, are currently under debate. By exploiting the inherent capacity of emotionally salient visual stimuli to capture attention, we aimed to investigate whether exogenous attention is characterized by either a reduction or an increase in alpha-band activity. Electroencephalographic activity was recorded while participants completed a Posner visuospatial cueing task, in which a lateralized image with either positive, negative, or neutral emotional content competed with a target stimulus presented in the opposite hemifield. Compared with trials with no distractors, alpha power was reduced over occipital regions contralateral to distracting images. This reduction of alpha activity turned out to be functionally relevant, as it correlated with impaired behavioral performance on the ongoing task and was enhanced for distractors with negative valence. Taken together, our results demonstrate that visuospatial exogenous attention is characterized by a suppression of alpha-band activity contralateral to distractor location, similar to the oscillatory underpinnings of endogenous attention. Further, these results highlight the key role of exogenous attention as an adaptive mechanism for the efficient detection of biologically salient stimuli, Comunidad Autónoma de Madrid and Universidad Autónoma de Madrid, Grant/Award Number: 2017-T2 /SOC5569/ SI1-PJI-2019-00011; Comunidad de Madrid, Grant/Award Number: SAPIENTIA-CM H2019/HUM-570; Ministerio de Ciencia Innovación y Universidades, Agencia Estatal de Investigación, and Fondo Europeo de Desarrollo Regional, Grant/Award Number: PGC2018-093570-B-I00 and PGC2018-100682-B-I00

Mutations in the PQBP1 gene are associated with Renpenning syndrome (RENS1, MIM# 309500). Most cases are characterized by intellectual disability, but a detailed neuropsychological profile has not yet been established. The present case study of a 8.5 years-old male child with a missense novel mutation in the PQBP1 gene expands existing understanding of this syndrome by presenting a milder clinical and neuropsychological phenotype. Whole exome trio analysis sequencing revealed a maternally inherited PQBP1 missense mutation in chromosome X [NM_001032383.1, c.727C > T (p.Arg243Trp)]. Variant functional studies demonstrated a significant reduction in the interaction between PQBP1 and the component of the nuclear pre-mRNA splicing machinery, U5-15KD. A comprehensive neuropsychological assessment revealed marked deficits in processing speed, attention and executive functioning (including planning, inhibitory control and working memory) without intellectual disability. Several components of language processing were also impaired. These results support that this mutation partially disrupts the function of this gene, which is known to play critical roles in embryonic and neural development. As most of the genomic PQBP1 abnormalities associated with intellectual disability have been found to be loss-of-function mutations, we hypothesize that a partial loss-of-function of this variant is associated with a mild behavioral and neuropsychological phenotype. Sin financiación 1.613 JCR (2021) Q4, 190/212 Clinical Neurology 0.325 SJR (2021) Q3, 241/350 Developmental and Educational Psychology No data IDR 2021 UEM

COL18A1 gene mutations have been associated with Knobloch syndrome, which is characterized by ocular and brain abnormalities. Here we report a 4.5 years-old male child with autism and two novel COL18A1 mutations (NM_030582.4: c.1883_1891dup and c.1787C>T). Hypermetropic astigmatism, but not brain migration disorders, was observed. However, an asymmetric pattern of cerebellar perfusion and a smaller arcuate fascicle were found. Low levels of collagen XVIII were also observed in the patient’s serum. Thus, biallelic loss-of-function mutations in COL18A1 may be a new cause of autism without the brain malformations typically reported in patients with Knobloch syndrome.

Increased trait impulsivity is a core element in several mental disorders. Given the durable and consistent nature of trait impulsivity, studies have explored its relation to stable biological measures. Variation in catecholaminergic neurotransmission by genetic variants could be one of these biological substrates. Here, 905 participants of European-ancestry completed the Barratt Impulsiveness Scale–11 and were genotyped in three single nucleotide polymorphisms related to catecholaminergic neurotransmission: the DRD2/ ANKK Taq1A, the C957T DRD2 and the Val158Met of the COMT gene. We found significant main effects of Val158Met and C957T on BIS-11 score. Also, interactions with gender were significant in both SNPs with a tendency to slightly different genotype and allele associations with the BIStotal score between male and female participants. Whereas in females, higher impulsivity scores were obtained by participants with the Val158Met heterozygous genotype (Met/Val), data indicate a trend towards a higher impulsivity score in male Val-allele carriers. In the case of C957T, only a tentative association between male Tallele carriers and higher impulsivity scores in comparison to CC genotype carriers could be established. No significant associations were found between BIS-11 and Taq1A. We provide further evidence for a gender-specific implication of Val158Met and C957T in trait impulsivity.

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, This work was supported by grants PSI2017-84922-R (Ministerio de Economía y Competitividad (MINECO, Spain) and SI1/PJI/2019-00061 (Comunidad de Madrid, Spain; V PRICIT)

Mutations in the

Although considerable progress has been made in understanding the neural substrates of simple or global stopping, the neural mechanisms supporting selective stopping remain less understood. The selectivity of the stop process is often required in our everyday life in situations where responses must be suppressed to certain signals but not others. Here, we examined the oscillatory brain mechanisms of response cancellation in selective stopping by controlling for the different strategies adopted by participants (n = 54) to accomplish a stimulus selective stop-signal task. We found that successfully cancelling an initiated response was specifically associated with increased oscillatory activity in the high-beta frequency range in the strategy characterized by stopping selectively (the so called dependent Discriminate then Stop, dDtS), but not in the strategy characterized by stopping non-selectively (Stop then Discriminate, StD). Beamforming source reconstruction suggests that this high-beta activity was mainly generated in the superior frontal gyrus (including the pre-supplementary motor area) and the middle frontal gyrus. Present findings provide neural support for the existence of different strategies for solving selective stopping tasks. Specifically, differences between strategies were observed in the oscillatory activity associated with the stop process and were restricted to the high-beta frequency range. Moreover, current results provide important evidence suggesting that high-beta oscillations in superior and middle frontal cortices play an essential role in cancelling an initiated motor response.

Emotional scenes are, along with facial expressions, the most employed stimuli in Affective Sciences. However, as compared to facial expressions, available emotional scene databases are scarce and, in some cases, obsolete and overused. This paper describes EmoMadrid ( http://www.psicologiauam.es/CEACO/EmoMadrid.htm ), an open access database currently consisting of 813 emotional pictures. Valence and Arousal of each of these pictures were assessed by an average sample of 146 volunteers per session, who evaluated an average of 155 pictures each. Total participants up to the present is 768. EmoMadrid includes information, not provided in other databases, on low order visual parameters such as spatial frequency, luminosity, and chromatic complexity. These parameters are of crucial interest, since they have been revealed to interact with the affective content of pictures. EmoMadrid shows a robust short and long term reliability (under and over 5 years, respectively) and has already been employed in 15 Human Neuroscience and Behavior published studies, despite it has only been described in its web page.

KBG syndrome is characterized by dental, craniofacial and skeletal anomalies, short stature and global developmental delay or intellectual disability. It is caused by microdeletions or truncating mutations of ANKRD11. We report four unrelated probands with this syndrome due to de novo ANKRD11 aberrations that may contribute to a better understanding of the genetics and pathophysiology of this autosomal dominant syndrome. Clinical, cognitive and MRI assessments were performed. Three of the patients showed normal intellectual functioning, whereas the fourth had a borderline level of intellectual functioning. However, all of them showed deficits in various cognitive and socioemotional processes such as attention, executive functions, empathy or pragmatic language. Moreover, all probands displayed marked asymmetry of the uncinate fascicles and an abnormal gyrification pattern in the left frontal lobe. Thus, structural neuroimaging anomalies seem to have been overlooked in this syndrome. Disturbed frontal gyrification and/or lower structural integrity of the uncinate fascisulus might be unrecognized neuroimaging features of KBG syndrome caused by ANKRD11 aberrations. Present results also point out that this syndrome is not necessarily associated with global developmental delay and intellectual disability, but it can be related to other neurodevelopmental disorders or subclinical levels of attention-deficit hyperactivity disorder, autism, communication disorders or specific learning disabilities. Sin financiación 3.692 JCR (2021) Q2, 101/212 Clinical Neurology 0.997 SJR (2021) Q1, 480/2489 Medicine (miscellaneous) No data IDR 2021 UEM

Mutations in the ANO3 gene have been associated with autosomal dominant craniocervical dystonia. However, little else is known about the genotype-phenotype characteristics of this disorder. Here we describe a 3 years-old girl with distal myoclonic dystonia. Whole exome sequencing in trio revealed a de novo missense ANO3 variant not previously described in international databases. A global psychomotor regression was observed once dystonia was present. Brain MRI changes paralleled these findings: whereas MRI at the age of 18 months was normal, mild brain and cerebellar atrophy was observed 18 months later. These results suggest that missense mutations in ANO3 may underlie complex disorders particularly characterized by early psychomotor regression and dystonia. Sin financiación 2.708 JCR (2020) Q3, 107/176 Genetics & Heredity 0.896 SJR (2020) Q2, 1567340 Genetics No data IDR 2020 UEM

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 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 indiscrimi-nately 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 chil-dren, 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, This work was supported by grants PSI2017-84922-R (Ministerio de Economía y Competitividad (MINECO, Spain) and SI1/PJI/2019-00061 (Comunidad de Madrid, Spain; V PRICIT)

Here, we review the recent literature on the use of neurofeedback in ADHD. We also discuss the progress and challenges in this field and offer future directions. There is promising and suggestive, but not conclusive, evidence suggesting that neurofeedback is an effective treatment for ADHD. Nonetheless, no firm conclusion about its clinical utility can be made because only a few neurofeedback trainings have been assessed. Novel approaches to acquiring and analyzing brain data have expanded the possibilities of neurofeedback for understanding and treating ADHD. At the basic level, neurofeedback represents an exciting new approach to complement descriptive neuroimaging ADHD research by providing evidence of specific causal brain-(dys)function relationships. At the clinical level, it represents a promising non-invasive intervention to normalize or compensate for neuropsychological/behavioral dsyfunctions associated with ADHD. Further, well-controlled studies are needed to examine the feasibility and effectiveness of traditional and new potentially useful neurofeedback trainings.

The present event-related potentials (ERPs) study investigated the effects of mood on phonological encoding processes involved in word generation. For this purpose, negative, positive and neutral affective states were induced in participants during three different recording sessions using short film clips. After the mood induction procedure, participants performed a covert picture naming task in which they searched letters. The negative compared to the neutral mood condition elicited more negative amplitudes in a component peaking around 290ms. Furthermore, results from source localization analyses suggested that this activity was potentially generated in the left prefrontal cortex. In contrast, no differences were found in the comparison between positive and neutral moods. Overall, current data suggest that processes involved in the retrieval of phonological information during speech generation are impaired when participants are in a negative mood. The mechanisms underlying these effects were discussed in relation to linguistic and attentional processes, as well as in terms of the use of heuristics.

Although the genetic influence on global stopping has been extensively investigated, little is known about the genetic contribution to other more complex forms of inhibitory control such as selective stopping. The selectivity of inhibitory control can be assessed by using the stimulus-selective stop-signal task. Notably, recent behavioural and neural evidence indicates that individuals can adopt selective but also non-selective stopping strategies to solve it. This study aimed to investigate for the first time the influence of two relevant dopaminergic polymorphisms (in COMT and DRD2 genes) on stimulus-selective stopping in a sample of 529 adults. Results showed that although none of these polymorphisms (neither individually nor in combination) modulate the latency of the stop process in each strategy (the stop-signal reaction time), the choice of strategy was influenced by their interaction. These results suggest that dopaminergic polymorphisms might influence strategy adoption in selective stopping paradigms, which constitutes a novel finding.

Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child and adolescent population, with a known impact on learning, social relations and quality of life. However, the lifestyle habits of patients with this disorder have been poorly studied.A total of 160 children and adolescents, aged between 6 and 16 years, participated in the study. Half of them were treatment-naïve patients with a clinical diagnosis of ADHD according to DSM-IV-TR criteria, and without comorbidities. The remaining 80 participants were typically developing (TD) controls without known neurodevelopmental or psychiatric disorders. Parents of all participants completed a questionnaire about their children´s lifestyle habits (e.g, daily hours of sleep, media use and study).The groups had a similar socioeconomic background and did not differ with respect to age and sex distribution. However, patients with ADHD spent more time than TD children studying, and less time watching TV, playing video games, using computers and playing with other people. They also slept fewer hours per night than children and adolescents with TD. ADHD and TD groups spent similar time reading, listening to music and playing sports.The results of this study suggest that children and adolescents with ADHD have different lifestyle habits compared to age- and sex-matched controls. These findings are not explained by comorbid disorders or medication/ psychological treatment.

Attention deficit / hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child-youth population, with a known impact on learning and school performance. Lack of attention, associated executive dysfunction and comorbid problems -particularly those related to learning and anxiety-, strongly determine this conceptual domain. Affected youths have more problems for taking notes, completion of homework, school programming and less motivation to study. Despite greater dedication to homework and greater use of support resources, school failure and nonachievement of curricular objectives are more frequent in these patients. The early diagnosis of ADHD and its comorbidities, the adequate and individualized psychoeducational and pharmacological intervention, have been shown to improve academic prognosis in the short and long term. For this purpose, the active participation of health and education professionals is essential.El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos más prevalentes en la población infanto-juvenil, con un impacto ya conocido sobre el aprendizaje y rendimiento escolar. La falta de atención, la disfunción ejecutiva asociada y los problemas comórbidos ‐particularmente los relacionados con el aprendizaje y la ansiedad‐, condicionan marcadamente este dominio conceptual. Los jóvenes afectos, tienen más problemas para la toma de apuntes, finalización de trabajos, programación escolar y menor motivación al estudio. A pesar de una mayor dedicación al estudio y mayor uso de recursos de apoyo, el fracaso escolar y la no consecución de objetivos curriculares son más frecuentes en estos pacientes. El diagnóstico temprano del TDAH y sus comorbilidades, la intervención psicoeducativa y farmacológica adecuada e individualizada, han demostrado mejorar el pronóstico académico a corto y largo plazo. Para este propósito, es imprescindible la participación activa de profesionales de la salud y la educación.

The present study examined the neural and behavioral correlates of selective stopping, a form of inhibition that has scarcely been investigated. The selectivity of the inhibitory process is needed when individuals have to deal with an environment filled with multiple stimuli, some of which require inhibition and some of which do not. The stimulus-selective stop-signal task has been used to explore this issue assuming that all participants interrupt their ongoing responses selectively to stop but not to ignore signals. However, recent behavioral evidence suggests that some individuals do not carry out the task as experimenters expect, since they seemed to interrupt their response non-selectively to both signals. In the present study, we detected and controlled the cognitive strategy adopted by participants (n=57) when they performed a stimulus-selective stop-signal task before comparing brain activation between conditions. In order to determine both the onset and the end of the response cancellation process underlying each strategy and to fully take advantage of the precise temporal resolution of event-related potentials, we used a mass univariate approach. Source localization techniques were also employed to estimate the neural underpinnings of the effects observed at the scalp level. Our results from scalp and source level analysis support the behavioral-based strategy classification. Specific effects were observed depending on the strategy adopted by participants. Thus, when contrasting successful stop versus ignore conditions, increased activation was only evident for subjects who were classified as using a strategy whereby the response interruption process was selective to stop trials. This increased activity was observed during the P3 time window in several left-lateralized brain regions, including middle and inferior frontal gyri, as well as parietal and insular cortices. By contrast, in those participants who used a strategy characterized by stopping non-selectively, no activation differences between successful stop and ignore conditions were observed at the estimated time at which response interruption process occurs. Overall, results from the current study highlight the importance of controlling for the different strategies adopted by participants to perform selective stopping tasks before analyzing brain activation patterns.

We describe a 4-year-old male child born to non-consanguineous Spanish parents with progressive encephalopathy (PE), microcephaly, and hypertonia. Whole exome sequencing revealed compound heterozygous BRAT1 mutations [c.1564G > A (p.Glu522Lys) and c.638dup (p.Val214Glyfs*189)]. Homozygous and compound heterozygous BRAT1 mutations have been described in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498). The seven previously described patients suffered from uncontrolled seizures, and all of those patients died in their first months of life. BRAT1 acts as a regulator of cellular proliferation and migration and is required for mitochondrial function. The loss of these functions may explain the cerebral atrophy observed in this case of PE. This case highlights the extraordinary potential of next generation technologies for the diagnosis of rare genetic diseases, including PE. Making a prompt diagnosis of PE is important for genetic counseling and disease management.

The influence of explicit evaluative processes on the contextual integration of facial expressions of emotion was studied in a procedure that required the participants to judge the congruency of happy and angry faces with preceding sentences describing emotion-inducing situations. Judgments were faster on congruent trials in the case of happy faces and on incongruent trials in the case of angry faces. At the electrophysiological level, a congruency effect was observed in the face-sensitive N170 component that showed larger amplitudes on incongruent trials. An interactive effect of congruency and emotion appeared on the LPP (late positive potential), with larger amplitudes in response to happy faces that followed anger-inducing situations. These results show that the deliberate intention to judge the contextual congruency of facial expressions influences not only processes involved in affective evaluation such as those indexed by the LPP but also earlier processing stages that are involved in face perception.

Although response inhibition is thought to be important in borderline personality disorder (BPD), little is known about its neurophysiological basis. This study aimed to provide insight into this issue by capitalizaing on the high temporal resolution of electroencephalography and information provided by source localization methods. To this end, twenty unmedicated patients with BPD and 20 healthy control subjects performed a modified go/no-go task designed to better isolate the brain activity specifically associated with response inhibition. Event-related potentials (ERP) were measured and further analyzed at the scalp and source levels. Patients with BPD made more commission errors (failed inhibitions) than control subjects. Scalp ERP data showed that both groups displayed greater frontocentral P3 amplitude for no-go (response inhbition) than for go trials (response execution). However, source reconstruction data revealed that patients with BPD activated posterior parietal regions (precuneus) to inhibit their responses, whereas controls activated prefrontal regions (presupplementary motor area, preSMA). This dissociation was supported by a significant Region (precuneus, preSMA) x Trial Type (no-go, go) x Group (BPD, control) interaction. These findings extend our understanding of the neurophysiological basis of abnormal response inhibition in BPD, suggesting that patients with BPD recruit different brain regions for inhibiting prepotent responses compared to controls. Future research in larger, medication-naive samples of patients with BPD is required to confirm and extend these findings.

Several lines of evidence suggest that the dopamine transporter gene (DAT1) plays a crucial role in attention deficit hyperactivity disorder (ADHD). Concretely, recent data indicate that the 10-repeat (10R) DAT1 allele may mediate neuropsychological functioning, response to methylphenidate, and even brain function and structure in children with ADHD. This study aimed to investigate the influence of 10R DAT1 on thickness of the prefrontal cortex in children and adolescents with ADHD. To this end, brain magnetic resonance images were acquired from 33 patients with homozygosity for the 10R allele and 30 patients with a single copy or no copy of the allele. The prefrontal cortex of each MRI scan was automatically parceled into regions of interest (ROIs) based on Brodmann areas (BA). The two groups were matched for age, gender, IQ, ADHD subtype, symptom severity, comorbidity and medication status. However, patients with two copies of the 10R allele exhibited significantly decreased cortical thickness in right BA 46 relative to patients with one or fewer copies of the allele. No other prefrontal ROI differed significantly between the two groups. Present findings suggest that cortical thickness of right lateral prefrontal cortex (BA 46) is influenced by the presence of the DAT1 10 repeat allele in children and adolescents with ADHD.

BackgroundAlthough both emotion and response inhibition are thought to be important in attention-deficit/hyperactivity disorder (ADHD), little is known about the neural mechanisms that underlie the interaction between these two processes in patients with this disorder. This study aimed at examining how emotional contexts affect inhibitory control in children with ADHD.MethodA total of 24 ADHD children and 24 healthy comparison subjects performed a modified go/no-go task during three different emotionally laden contexts: negative, neutral and positive. To explore the timing and the underlying neural substrates of emotion-modulated response inhibition, event-related potentials were measured and further analysed both at the scalp and at the voxel level.ResultsPatients with ADHD showed greater activation of inhibition-related neural mechanisms (i.e. no-go P3 amplitudes and orbitofrontal cortex activity) to maintain a similar level of performance as healthy comparison subjects, especially during the emotionally arousing contexts (negative and positive).ConclusionsThis study provides plausible neural mechanisms for the difficulty that ADHD children have in controlling their behaviour in highly emotional situations. Such emotional contexts might increase the need for top-down inhibitory control and put ADHD children at greater risk for impulsive behaviours and emotional dysregulation.

Structural and functional brain studies on attention deficit/hyperactivity disorder (ADHD) have primarily examined anatomical abnormalities in the prefronto-striatal circuitry (especially, dorsal and lateral areas of the prefrontal cortex and dorsal striatum). There is, however, increased evidence that several temporal lobe regions could play an important role in ADHD. The present study used MRI-based measurements of cortical thickness to examine possible differences in both prefrontal and temporal lobe regions between medication-naive patients with ADHD ( N =50) and age- and sex-matched typically developing controls ( N =50). Subjects with ADHD exhibited significantly decreased cortical thickness in the right temporal pole and orbitofrontal cortex (OFC) relative to healthy comparison subjects. These differences remained significant after controlling for confounding effects of age, overall mean cortical thickness and comorbid externalizing conditions, such as oppositional defiant and conduct disorders. These results point to the involvement of the temporal pole and OFC in the neuropathology of ADHD. Moreover, present findings add evidence to the assumption that multiple brain regions and psychological processes are associated with ADHD.

Previous research on emotion in language has mainly concerned the impact of emotional information on several aspects of lexico-semantic analyses of single words. However, affective influences on morphosyntactic processing are less understood. In the present study, we focused on the impact of negative valence in the processing of gender agreement relations. Event-related potentials (ERPs) were recorded while participants read three-word phrases and performed a syntactic judgment task. Negative and neutral adjectives could agree or disagree in gender with the preceding noun. At an electrophysiological level, the amplitude of a left anterior negativity (LAN) to gender agreement mismatches decreased in negative words, relative to neutral words. The behavioral data suggested that LAN amplitudes might be indexing the processing costs associated with the detection of gender agreement errors, since the detection of gender mismatches resulted in faster and more accurate responses than did the detection of correct gender agreement relations. According to this view, it seems that negative content facilitated the processes implicated in the early detection of gender agreement mismatches. However, gender agreement violations in negative words triggered processes involved in the reanalysis and repair of the syntactic structure, as reflected in larger P600 amplitudes to incorrect than to correct phrases, irrespective of their emotional valence.

Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case with a 1.607 Mb duplication at 3q29 (chr3: 195,731,956-197,339,329), accompanied by severe intellectual disability, epilepsy, and cerebral palsy. This duplication involves 22 genes; PAK2, DLG1, BDH1, and FBXO45 are implicated in neuronal development and synaptic function and could play an important role in this syndrome. We propose considering genetic studies, particularly array comparative genomic hybridization, in patients with epilepsy and/or cerebral palsy of unknown etiology when dysmorphic features are present.

Background Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system with a low incidence in the paediatric population; cortical atrophy is often striking, even in the early stages of the disease. Evidence of cortical thinning in childhood MS is scant. Aims This study aimed to assess cortical thickness in paediatric patients during the initial attack of remitting–relapsing MS. Methods We report two cases of remitting–relapsing MS, with initial attacks at 12 and 16 years of age. We analysed brain cortical thickness (CTh) in these patients and compared these data to the CTh of a control group comprised of six 12-year-old females and six 16-year-old males. Results Both cases exhibited a total brain CTh significantly below that of the control group. This difference was also observed when analysing the CTh of all lobes except the left parietal lobe in one of the cases. Conclusions Cortical atrophy is already present at the time of onset of MS. Studies with larger patient populations that have a more homogenous clinical presentation could identify the time of onset of cortical atrophy and use this parameter as a prognostic and/or treatment marker of MS.

Objective: This study aimed to examine the influence of dopamine transporter gene ( DAT1) 3’UTR genotype on cingulate cortical thickness in a large sample of children and adolescents with ADHD. Method: Brain MRIs were acquired from 46 ADHD patients with homozygosity for the 10-repeat allele and 52 ADHD patients with a single copy or no copy of the allele. The cingulate cortex of each MRI scan was automatically parceled into sulci and gyri as well as into Brodmann areas (BA). Results: There were no group differences in age, gender, full-scale intelligence quotient, symptom severity, treatment status, comorbidity, or mean overall cortical thickness. Sulcus/gyrus- and BA-based analyses revealed that patients homozygous for the 10-repeat allele showed significantly greater thickness in right cingulate gyrus and right BA 24 compared with 9-repeat carriers. Conclusion: These findings suggest that thickness of cingulate cortex is influenced by the presence of the 10-repeat allele in ADHD.

Negative stimuli have consistently been shown to efficiently attract exogenous attention. Two different types of unpleasant stimuli, disgusting and fearful, sharing similar arousal and valence, are usually employed as a single category. However, since they diverge in several important aspects (biological functionality, associated feelings, and central and peripheral physiological correlates), it may be expected that their potential to capture attention differs. Event-related potentials and behavioral indices were recorded while participants were engaged in a digit categorization task in response to three types of irrelevant, distracting pictures: disgusting, fearful and neutral. Disgusting trials were associated with worse performance than fearful trials in the digit categorization task as revealed by reaction times and number of errors. Moreover, P2-associated cuneus activation and scalp anterior P2 amplitude were greater for disgusting than for fearful distracters. All these indices reveal that, under the experimental conditions employed in the present study, disgusting distracters are more efficient at attracting exogenous attention than are fearful distracters.

Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous disorder that is characterized not only by cognitive deficits but also by affective dysfunctions, both motivational and emotional. Nevertheless, the neural bases of affective dysfunctions have barely been explored in relation to this disorder, in contrast to extensive research that examined the neural correlates of its main cognitive deficits (attention, response inhibition and working memory). This article reviews the available data regarding the neurobiological substrates of motivational and emotional alterations showed by children, adolescents and adults with ADHD. Practical implications derived from these data are discussed and future research directions from affective neuroscience are suggested.

Introduccion. El trastorno por deficit de atencion/hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo mas prevalentes. Otros trastornos del neurodesarrollo pueden aparecer de forma comorbida o mimetizar el propio TDAH. Desarrollo. Se revisa la elevada prevalencia de otros trastornos del neurodesarrollo (trastornos especificos del aprendizaje, trastornos de la comunicacion...) en los pacientes con TDAH. Por otro lado, entre los posibles diagnosticos diferenciales se situan los mismos trastornos del neurodesarrollo que pueden aparecer de forma comorbida. Se valorara, de acuerdo a la bibliografia, el papel de la valoracion clinica y la neuropsicologia en la distincion entre comorbilidad y mimetismo. Conclusiones. La valoracion clinica podria ser insuficiente para el diagnostico comorbido de los trastornos del neurodesarrollo. En estos casos, la valoracion neuropsicologica es generalmente necesaria; esta puede igualmente ofrecer hipotesis diagnosticas alternativas de la sintomatologia observada y, por tanto, ser util para el diagnostico diferencial.

The involvement of striatum in affective processes has been consistently reported in recent years. However, studies within this field have mainly focused on positive affect, revealing the involvement of striatum in reward situations. The present research aimed to explore the involvement of striatum in negative affect through fMRI. To that aim, participants (n=18) were presented with negative, positive and neutral pictures while they performed an indirect task, a strategy repeatedly recommended to avoid cognitive interferences. Positive and negative stimuli did not differ in their arousal levels, as assessed by participants themselves. Analyses of variance showed that caudate nucleus was sensitive to the emotional content of stimulation, negative pictures eliciting greater caudate responses than positive and neutral. Regression analyses indicated that both valence and arousal content of visual stimuli synergically contributed to explain the activation of caudate, whose strong response to negative pictures supports models proposing striatum as a key element in withdrawal situations.

Both dynamic non-emotional stimuli (moving dots or digits) and danger-related static stimuli have previously shown to capture attention. This study explored whether the combination of the two factors (i.e., threatening moving stimuli), frequent in natural situations, enhances attentional capture. To this end, static and moving distractors containing emotionally negative and non-negative information were presented to 30 volunteers while they were engaged in a digit categorization task. Behavioral responses and event-related potentials (ERPs) were analyzed. Behavioral and electrophysiological data were convergent: moving negative distractors produced the longest reaction times in the digit categorization task, and elicited the highest amplitudes in the P1 component of the ERPs (peaking at 112 ms), an electrophysiological signal of attentional capture. These results suggest that motion provides additional salience to threatening stimuli that facilitates attentional capture.

Contrary to what occurs with negative pictures, negative words are, in general, not capable of interfering with performance in ongoing cognitive tasks in normal subjects. A probable explanation is the limited arousing power of linguistic material. Especially intense words (insults and compliments), neutral personal adjectives, and pseudowords were presented to 28 participants while they executed a lexical decision task. Insults were associated with the poorest performance in the task and compliments with the best. Amplitude of the late positive component of the event-related potentials, originating at parietal areas, was maximal in response to compliments and insults, but latencies were delayed in response to the latter. Results suggest that intense emotional words modulate ongoing cognitive processes through both bottom-up (attentional capture by insults) and top-down (facilitation of cognitive processing by arousing words) mechanisms.

© 2015 The Author(s). Published by Taylor & Francis. Objectives: Schizotypy relates to rejection sensitivity (anxiety reflecting an expectancy of social exclusion) and neuroticism (excessive evaluation of negative emotions). Positive schizotypy (e.g., perceptual aberrations and odd beliefs) and negative schizotypy (e.g., social and physical anhedonia) could relate to altered attention to rejection because of neuroticism. Methods: Forty-one healthy individuals were assessed on positive and negative schizotypy and neuroticism, and event-related potentials during rejecting, accepting and neutral scenes. Participants were categorised into high, moderate and low neuroticism groups. Using temporo-spatial principal components analyses, P200 (peak latency =290 ms) and P300 amplitudes (peak latency = 390 ms) were measured, reflecting mobilisation of attention and early attention, respectively. Results: Scalp-level and cortical source analysis revealed elevated fronto-parietal N300/P300 amplitude and P200-related dorsal anterior cingulate current density during rejection than acceptance/neutral scenes. Positive schizotypy related inversely to parietal P200 amplitude during rejection. Negative schizotypy related positively to P200 middle occipital current density. Negative schizotypy related positively to parietal P300, where the association was stronger in high and moderate, than low, neuroticism groups. Conclusions: Positive and negative schizotypy relate divergently to attention to rejection. Positive schizotypy attenuates, but negative schizotypy increases rejection-related mobilisation of attention. Negative schizotypy increases early attention to rejection partly due to elevated neuroticism.

Exogenous or automatic attention to emotional distractors has been observed for emotional scenes and faces. In the language domain, however, automatic attention capture by emotional words has been scarcely investigated. In the current event-related potentials study we explored distractor effects elicited by positive, negative and neutral words in a concurrent but distinct target distractor paradigm. Specifically, participants performed a digit categorization task in which task-irrelevant words were flanked by numbers. The results of both temporo-spatial principal component and source location analyses revealed the existence of early distractor effects that were specifically triggered by positive words. At the scalp level, task-irrelevant positive compared to neutral and negative words elicited larger amplitudes in an anterior negative component that peaked around 120 ms. Also, at the voxel level, positive distractor words increased activity in orbitofrontal regions compared to negative words. These results suggest that positive distractor words quickly and automatically capture attentional resources diverting them from the task where attention was voluntarily directed, This work was supported by grants PSI2012-37535 and PSI2011-26314 from the Ministerio de Economía y Competitividad (MINECO) of Spain, and grant PI13/01759 from the Institute of Health Carlos III (ISCIII) of Spain

Event-related potentials were recorded from 30 subjects using sustained stimulation and an indirect task, two strategies which facilitate affective responses that are complete and free of cognitive interference. Stimuli were of three types: pleasant, unpleasant and neutral. A three-phase pattern was found. The first phase, an amplitude increase in response to negative stimuli higher than to neutral and pleasant stimuli, was produced at 160 ms after stimulus onset, the prefrontal cortex being the origin of this phase. The second phase, characterized by maximal amplitudes in response to positive stimuli, was produced at 400 ms, originating in the visual cortex. Finally, the third phase, another amplitude increase in response to negative stimuli, was produced at 680 ms, and its source was located in the left precentral gyrus. Present data show that the cortical response to sustained emotional visual stimulation presented within indirect tasks provides information on attention-, motivation-and motor-related biases that complement information obtained under other experimental conditions. Psicología

Though neuropsychological data indicate that the right hemisphere (RH) plays a major role in metaphor processing, other studies suggest that, at least during some phases of this processing, a RH advantage may not exist. The present study explores, through a temporally agile neural signal—the event-related potentials (ERPs)—, and through source-localization algorithms applied to ERP recordings, whether the crucial phase of metaphor comprehension presents or not a RH advantage. Participants (n = 24) were submitted to a S1–S2 experimental paradigm. S1 consisted of visually presented metaphoric sentences (e.g., “Green lung of the city”), followed by S2, which consisted of words that could (i.e., “Park”) or could not (i.e., “Semaphore”) be defined by S1. ERPs elicited by S2 were analyzed using temporal principal component analysis (tPCA) and source-localization algorithms. These analyses revealed that metaphorically related S2 words showed significantly higher N400 amplitudes than non-related S2 words. Source-localization algorithms showed differential activity between the two S2 conditions in the right middle/superior temporal areas. These results support the existence of an important RH contribution to (at least) one phase of metaphor processing and, furthermore, implicate the temporal cortex with respect to that contribution. © 2004 Elsevier Ireland Ltd. All rights reserved.

Principles of perceptual grouping can be divided into intrinsic grouping cues, which are based on built-in properties of the grouped elements (e.g., their shape, position, colour, etc.) like most of the classical Gestalt laws, and extrinsic grouping principles, based on relations between the discrete elements and other external stimuli that induce them to group (e.g., common region, connectedness). Several studies have explored the neural correlates of intrinsic grouping factors but, to our knowledge, no previous study has studied the neural correlates of extrinsic principles. The present study aimed to shed light on this issue by exploiting the high temporal resolution of event-related potentials (ERPs) and recent advances in source localization. Specifically, grouping by common region was compared with two comparison conditions, an intrinsic grouping (luminance similarity) and a uniform stimulus condition, in a perceptual discrimination task. We reported three main neural effects associated with grouping by common region. First, a posterior N210 component with a neural origin in the left extrastriate cortex was related to perceptual analysis of extrinsic elements inducing grouping and the formation of a visual group. Second, an enhanced posterior P280, which presumably reflects higher confidence decisions during response selection. Finally, a P550 originated in the right superior parietal cortex that seems to be associated with top-down suppression activity connected with the termination of the processing of the current trial. Overall, our results suggest that common region cues belong to the category of long latency grouping principles that mainly involve activity in extrastriate cortices.