Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review

Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD

Contralateral delay activity as a marker of visual working memory capacity: a multi-site registered replication

Visual working memory (VWM) is a temporary storage system capable of retaining information that can be accessed and manipulated by higher cognitive processes, thereby facilitating a wide range of cognitive functions. Electroencephalography (EEG) is used to understand the neural correlates of VWM with high temporal precision, and one commonly used EEG measure is an event-related potential called the contralateral delay activity (CDA). In a landmark study by Vogel and Machizawa (2004), the authors found that the CDA amplitude increases with the number of items stored in VWM and plateaus around three to four items, which is thought to represent the typical adult working memory capacity. Critically, this study also showed that the increase in CDA amplitude between two-item and four-item arrays correlated with individual subjects’ VWM performance. Although these results have been supported by subsequent studies, a recent study suggested that the number of subjects used in experiments investigating the CDA may not be sufficient to detect differences in set size and to provide a reliable account of the relationship between behaviorally measured VWM capacity and the CDA amplitude. To address this, the current study, as part of the #EEGManyLabs project, aims to conduct a multi-site replication of Vogel and Machizawa's (2004) seminal study on a large sample of participants, with a pre-registered analysis plan. Through this, our goal is to contribute to deepening our understanding of the neural correlates of visual working memory

Expectation Violations, Expectation Change, and Expectation Persistence: The Scientific Landscape as Revealed by Bibliometric Network Analyses

Expectation violations occur when there is a discrepancy between expected and perceived events or experiences. Often, however, expectations persist despite disconfirming evidence. Therefore, research on expectation violations, expectation change, and expectation persistence has been conducted in several fields of psychology with wide-ranging theoretical assumptions and empirical considerations. In the present review, we analysed how these research fields relate to each other using bibliometric network analyses. For this purpose, we conducted a systematic literature search to identify scientific publications on expectation violations, expectation change, and expectation persistence. The literature corpus was then quantitatively analysed using similarity measures that allow a data-driven classification of publications into groups, revealing their conceptual, theoretical, and empirical commonalities. Our results indicate that many influential publications have focused on finding reactivity measures (e.g., brain activation) to the discrepancy experienced between expectations and outcomes. Furthermore, these measures have been used to assess when and to which degree learning and behavioural adaptation (i.e., expectation change) take place. We discuss the potential application of these measures for understanding expectation violations, expectation change, and expectation persistence in more complex settings (e.g., social interaction). The goal of this review was to foster interdisciplinarity in psychology, enabling scientists and practitioners to identify new topics, promising empirical approaches, and previously neglected variables

Supplement with alternative LI calculation methods

Lateralization results with (A) voxel count as metric and (B) an alternativ contrast "faces vs. houses

Expectation violations, expectation change, and expectation persistence: The scientific landscape as revealed by bibliometric network analyses

Expectation violations occur when there is a discrepancy between expected and perceived events. Research on expectation violations has been conducted in several fields of psychology with wide-ranging theoretical assumptions and empirical considerations. In the present review, we analyzed how these research fields relate to each other via bibliometric network analyses

Age-Dependent Positivity-Bias in Children’s Processing of Emotion Terms

Emotions play an important role in human communication, and the daily-life interactions of young children often include situations that require the verbalization of emotional states with verbal means, e.g., with emotion terms. Through them, one can express own emotional states and those of others. Thus, the acquisition of emotion terms allows children to participate more intensively in social contexts – a basic requirement for learning new words and for elaborating socio-emotional skills. However, little is known about how children acquire and process this specific word category, which is positioned between concrete and abstract words. In particular, the influence of valence on emotion word processing during childhood has not been sufficiently investigated. Previous research points to an advantage of positive words over negative and neutral words in word processing. While previous studies found valence effects to be influenced by factors such as arousal, frequency, concreteness, and task, it is still unclear if and how valence effects are also modified by age. The present study compares the performance of children aged from 5 to 12 years and adults in two experimental tasks: lexical decision (word or pseudoword) and emotional categorization (positive or negative). Stimuli consisted of 48 German emotion terms (24 positive and 24 negative) matched for arousal, concreteness, age of acquisition, word class, word length, morphological complexity, frequency, and neighborhood density. Results from both tasks reveal two developmental trends: First, with increasing age children responded faster and more correctly, suggesting that emotion vocabulary gradually becomes more stable and differentiated during middle childhood. Second, the influence of valence varied with age: younger children (5- and 6-year-olds) showed significantly higher performance levels for positive emotion terms compared to negative emotion terms, whereas older children and adults did not. This age-related valence effect in emotion word processing will be discussed with respect to linguistic and methodological aspects