A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12

Synesthesia, a neurological condition affecting between 0.05%–1% of the population, is characterized by anomalous sensory perception and associated alterations in cognitive function due to interference from synesthetic percepts. A stimulus in one sensory modality triggers an automatic, consistent response in either another modality or a different aspect of the same modality. Familiality studies show evidence of a strong genetic predisposition; whereas initial pedigree analyses supported a single-gene X-linked dominant mode of inheritance with a skewed F:M ratio and a notable absence of male-to-male transmission, subsequent analyses in larger samples indicated that the mode of inheritance was likely to be more complex. Here, we report the results of a whole-genome linkage scan for auditory-visual synesthesia with 410 microsatellite markers at 9.05 cM density in 43 multiplex families (n = 196) with potential candidate regions fine-mapped at 5 cM density. Using NPL and HLOD analysis, we identified four candidate regions. Significant linkage at the genome-wide level was detected to chromosome 2q24 (HLOD = 3.025, empirical genome-wide p = 0.047). Suggestive linkage was found to chromosomes 5q33, 6p12, and 12p12. No support was found for linkage to the X chromosome; furthermore, we have identified two confirmed cases of male-to-male transmission of synesthesia. Our results demonstrate that auditory-visual synesthesia is likely to be an oligogenic disorder subject to multiple modes of inheritance and locus heterogeneity. This study comprises a significant step toward identifying the genetic substrates underlying synesthesia, with important implications for our understanding of the role of genes in human cognition and perception.     

Components of Attention in Grapheme-Color Synesthesia: A Modeling Approach

Grapheme-color synesthesia is a condition where the perception of graphemes consistently and automatically evokes an experience of non-physical color. Many have studied how synesthesia affects the processing of achromatic graphemes, but less is known about the synesthetic processing of physically colored graphemes. Here, we investigated how the visual processing of colored letters is affected by the congruence or incongruence of synesthetic grapheme-color associations. We briefly presented graphemes (10–150 ms) to 9 grapheme-color synesthetes and to 9 control observers. Their task was to report as many letters (targets) as possible, while ignoring digit (distractors). Graphemes were either congruently or incongruently colored with the synesthetes’ reported grapheme-color association. A mathematical model, based on Bundesen’s (1990) Theory of Visual Attention (TVA), was fitted to each observer’s data, allowing us to estimate discrete components of visual attention. The models suggested that the synesthetes processed congruent letters faster than incongruent ones, and that they were able to retain more congruent letters in visual short-term memory, while the control group’s model parameters were not significantly affected by congruence. The increase in processing speed, when synesthetes process congruent letters, suggests that synesthesia affects the processing of letters at a perceptual level. To account for the benefit in processing speed, we propose that synesthetic associations become integrated into the categories of graphemes, and that letter colors are considered as evidence for making certain perceptual categorizations in the visual system. We also propose that enhanced visual short-term memory capacity for congruently colored graphemes can be explained by the synesthetes’ expertise regarding their specific grapheme-color associations.     

Explicating the Face Perception Network with White Matter Connectivity

A network of multiple brain regions is recruited in face perception. Our understanding of the functional properties of this network can be facilitated by explicating the structural white matter connections that exist between its functional nodes. We accomplished this using functional MRI (fMRI) in combination with fiber tractography on high angular resolution diffusion weighted imaging data. We identified the three nodes of the core face network: the “occipital face area” (OFA), the “fusiform face area” (mid-fusiform gyrus or mFus), and the superior temporal sulcus (STS). Additionally, a region of the anterior temporal lobe (aIT), implicated as being important for face perception was identified. Our data suggest that we can further divide the OFA into multiple anatomically distinct clusters – a partitioning consistent with several recent neuroimaging results. More generally, structural white matter connectivity within this network revealed: 1) Connectivity between aIT and mFus, and between aIT and occipital regions, consistent with studies implicating this posterior to anterior pathway as critical to normal face processing; 2) Strong connectivity between mFus and each of the occipital face-selective regions, suggesting that these three areas may subserve different functional roles; 3) Almost no connectivity between STS and mFus, or between STS and the other face-selective regions. Overall, our findings suggest a re-evaluation of the “core” face network with respect to what functional areas are or are not included in this network.     

Be Happy Not Sad for Your Youth: The Effect of Emotional Expression on Age Perception

Perceived age is a psychosocial factor that can influence both with whom and how we choose to interact socially. Though intuition tells us that a smile makes us look younger, surprisingly little empirical evidence exists to explain how age-irrelevant emotional expressions bias the subjective decision threshold for age. We examined the role that emotional expression plays in the process of judging one’s age from a face. College-aged participants were asked to sort the emotional and neutral expressions of male facial stimuli that had been morphed across eight age levels into categories of either “young” or “old.” Our results indicated that faces at the lower age levels were more likely to be categorized as old when they showed a sad facial expression compared to neutral expressions. Mirroring that, happy faces were more often judged as young at higher age levels than neutral faces. Our findings suggest that emotion interacts with age perception such that happy expression increases the threshold for an old decision, while sad expression decreases the threshold for an old decision in a young adult sample.     

Perception of solar UV radiation by plants: photoreceptors and mechanisms

About 95% of the ultraviolet (UV) photons reaching the Earth’s surface are UV-A (315–400 nm) photons. Plant responses to UV-A radiation have been less frequently studied than those to UV-B (280–315 nm) radiation. Most previous studies on UV-A radiation have used an unrealistic balance between UV-A, UV-B, and photosynthetically active radiation (PAR). Consequently, results from these studies are difficult to interpret from an ecological perspective, leaving an important gap in our understanding of the perception of solar UV radiation by plants. Previously, it was assumed UV-A/blue photoreceptors, cryptochromes and phototropins mediated photomorphogenic responses to UV-A radiation and “UV-B photoreceptor” UV RESISTANCE LOCUS 8 (UVR8) to UV-B radiation. However, our understanding of how UV-A radiation is perceived by plants has recently improved. Experiments using a realistic balance between UV-B, UV-A, and PAR have demonstrated that UVR8 can play a major role in the perception of both UV-B and short-wavelength UV-A (UV-A_sw, 315 to ∼350 nm) radiation. These experiments also showed that UVR8 and cryptochromes jointly regulate gene expression through interactions that alter the relative sensitivity to UV-B, UV-A, and blue wavelengths. Negative feedback loops on the action of these photoreceptors can arise from gene expression, signaling crosstalk, and absorption of UV photons by phenolic metabolites. These interactions explain why exposure to blue light modulates photomorphogenic responses to UV-B and UV-A_sw radiation. Future studies will need to distinguish between short and long wavelengths of UV-A radiation and to consider UVR8’s role as a UV-B/UV-A_sw photoreceptor in sunlight.

In sunlight, UVR8 mediates the perception of both UV-B and short-wavelength UV-A radiation with its sensitivity moderated by blue light perceived through cryptochromes.     

Within- and Cross-Modal Distance Information Disambiguate Visual Size-Change Perception

Perception is fundamentally underconstrained because different combinations of object properties can generate the same sensory information. To disambiguate sensory information into estimates of scene properties, our brains incorporate prior knowledge and additional “auxiliary” (i.e., not directly relevant to desired scene property) sensory information to constrain perceptual interpretations. For example, knowing the distance to an object helps in perceiving its size. The literature contains few demonstrations of the use of prior knowledge and auxiliary information in combined visual and haptic disambiguation and almost no examination of haptic disambiguation of vision beyond “bistable” stimuli. Previous studies have reported humans integrate multiple unambiguous sensations to perceive single, continuous object properties, like size or position. Here we test whether humans use visual and haptic information, individually and jointly, to disambiguate size from distance. We presented participants with a ball moving in depth with a changing diameter. Because no unambiguous distance information is available under monocular viewing, participants rely on prior assumptions about the ball''s distance to disambiguate their -size percept. Presenting auxiliary binocular and/or haptic distance information augments participants'' prior distance assumptions and improves their size judgment accuracy—though binocular cues were trusted more than haptic. Our results suggest both visual and haptic distance information disambiguate size perception, and we interpret these results in the context of probabilistic perceptual reasoning.     

Cortical Hierarchies Perform Bayesian Causal Inference in Multisensory Perception

To form a veridical percept of the environment, the brain needs to integrate sensory signals from a common source but segregate those from independent sources. Thus, perception inherently relies on solving the “causal inference problem.” Behaviorally, humans solve this problem optimally as predicted by Bayesian Causal Inference; yet, the underlying neural mechanisms are unexplored. Combining psychophysics, Bayesian modeling, functional magnetic resonance imaging (fMRI), and multivariate decoding in an audiovisual spatial localization task, we demonstrate that Bayesian Causal Inference is performed by a hierarchy of multisensory processes in the human brain. At the bottom of the hierarchy, in auditory and visual areas, location is represented on the basis that the two signals are generated by independent sources (= segregation). At the next stage, in posterior intraparietal sulcus, location is estimated under the assumption that the two signals are from a common source (= forced fusion). Only at the top of the hierarchy, in anterior intraparietal sulcus, the uncertainty about the causal structure of the world is taken into account and sensory signals are combined as predicted by Bayesian Causal Inference. Characterizing the computational operations of signal interactions reveals the hierarchical nature of multisensory perception in human neocortex. It unravels how the brain accomplishes Bayesian Causal Inference, a statistical computation fundamental for perception and cognition. Our results demonstrate how the brain combines information in the face of uncertainty about the underlying causal structure of the world.     

Facial EMG Responses to Emotional Expressions Are Related to Emotion Perception Ability

Although most people can identify facial expressions of emotions well, they still differ in this ability. According to embodied simulation theories understanding emotions of others is fostered by involuntarily mimicking the perceived expressions, causing a “reactivation” of the corresponding mental state. Some studies suggest automatic facial mimicry during expression viewing; however, findings on the relationship between mimicry and emotion perception abilities are equivocal. The present study investigated individual differences in emotion perception and its relationship to facial muscle responses - recorded with electromyogram (EMG) - in response to emotional facial expressions. N° = °269 participants completed multiple tasks measuring face and emotion perception. EMG recordings were taken from a subsample (N° = °110) in an independent emotion classification task of short videos displaying six emotions. Confirmatory factor analyses of the m. corrugator supercilii in response to angry, happy, sad, and neutral expressions showed that individual differences in corrugator activity can be separated into a general response to all faces and an emotion-related response. Structural equation modeling revealed a substantial relationship between the emotion-related response and emotion perception ability, providing evidence for the role of facial muscle activation in emotion perception from an individual differences perspective.     

Duration channels mediate human time perception

The task of deciding how long sensory events seem to last is one that the human nervous system appears to perform rapidly and, for sub-second intervals, seemingly without conscious effort. That these estimates can be performed within and between multiple sensory and motor domains suggest time perception forms one of the core, fundamental processes of our perception of the world around us. Given this significance, the current paucity in our understanding of how this process operates is surprising. One candidate mechanism for duration perception posits that duration may be mediated via a system of duration-selective 'channels', which are differentially activated depending on the match between afferent duration information and the channels' 'preferred' duration. However, this model awaits experimental validation. In the current study, we use the technique of sensory adaptation, and we present data that are well described by banks of duration channels that are limited in their bandwidth, sensory-specific, and appear to operate at a relatively early stage of visual and auditory sensory processing. Our results suggest that many of the computational principles the nervous system applies to coding visual spatial and auditory spectral information are common to its processing of temporal extent.     

Sensory Perception: An Overlooked Target of Occupational Exposure to Metals

The effect of exposure to industrial metals on sensory perception of workers has received only modest interest from the medical community to date. Nevertheless, some experimental and epidemiological data exist showing that industrial metals can affect vision, hearing and olfactory function, and a similar effect is also suggested for touch and taste. In this review the main industrial metals involved are discussed. An important limit in available knowledge is that, to date, the number of chemicals studied is relatively small. Another is that the large majority of the studies have evaluated the effect of a single chemical on a single sense. As an example, we know that mercury can impair hearing, smell, taste, touch and also vision, but we have scant idea if, in the same worker, a relation exists between impairments in different senses, or if impairments are independent. Moreover, workers are frequently exposed to different chemicals; a few available results suggest that a co-exposure may have no effect, or result in both an increase and a decrease of the effect, as observed for hearing loss, but this aspect certainly deserves much more study. As a conclusion, exposure to industrial metals can affect sensory perception, but knowledge of this effect is yet incomplete, and is largely inadequate especially for an estimation of “safe” thresholds of exposure. These data support the desirability of further good quality studies in this field.     

Assessing the Perception of Trunk Movements in Military Personnel with Chronic Non-Specific Low Back Pain Using a Virtual Mirror

Chronic pain, including chronic non-specific low back pain (CNSLBP), is often associated with body perception disturbances, but these have generally been assessed under static conditions. The objective of this study was to use a “virtual mirror” that scaled visual movement feedback to assess body perception during active movement in military personnel with CNSLBP (n = 15) as compared to military healthy control subjects (n = 15). Subjects performed a trunk flexion task while sitting and standing in front of a large screen displaying a full-body virtual mirror-image (avatar) in real-time. Avatar movements were scaled to appear greater, identical, or smaller than the subjects’ actual movements. A total of 126 trials with 11 different scaling factors were pseudo-randomized across 6 blocks. After each trial, subjects had to decide whether the avatar’s movements were “greater” or “smaller” than their own movements. Based on this two-alternative forced choice paradigm, a psychophysical curve was fitted to the data for each subject, and several metrics were derived from this curve. In addition, task adherence (kinematics) and virtual reality immersion were assessed. Groups displayed a similar ability to discriminate between different levels of movement scaling. Still, subjects with CNSLBP showed an abnormal performance and tended to overestimate their own movements (a right-shifted psychophysical curve). Subjects showed adequate task adherence, and on average virtual reality immersion was reported to be very good. In conclusion, these results extend previous work in patients with CNSLBP, and denote an important relationship between body perception, movement and pain. As such, the assessment of body perception during active movement can offer new avenues for understanding and managing body perception disturbances and abnormal movement patterns in patients with pain.     

Evolution of root nodule symbiosis: Focusing on the transcriptional regulation from the genomic point of view

Since molecular phylogenetics recognized root nodule symbiosis (RNS) of all lineages as potentially homologous, scientists have tried to understand the “when” and the “how” of RNS evolution. Initial progress was made on understanding the timing of RNS evolution, facilitating our progress on understanding the underlying genomic changes leading to RNS. Here, we will first cover the different hypotheses on the timings of gains/losses of RNS and show how this has helped us understand how RNS has evolved. Finally, we will discuss how our improved understanding of the genetic changes that led to RNS is now helping us refine our understanding on when RNS has evolved.     

Alternate histories of cytokinesis: lessons from the trypanosomatids

Popular culture has recently produced several “alternate histories” that describe worlds where key historical events had different outcomes. Beyond entertainment, asking “could this have happened a different way?” and “what would the consequences be?” are valuable approaches for exploring molecular mechanisms in many areas of research, including cell biology. Analogous to alternate histories, studying how the evolutionary trajectories of related organisms have been selected to provide a range of outcomes can tell us about the plasticity and potential contained within the genome of the ancestral cell. Among eukaryotes, a group of model organisms has been employed with great success to identify a core, conserved framework of proteins that segregate the duplicated cellular organelles into two daughter cells during cell division, a process known as cytokinesis. However, these organisms provide relatively sparse sampling across the broad evolutionary distances that exist, which has limited our understanding of the true potential of the ancestral eukaryotic toolkit. Recent work on the trypanosomatids, a group of eukaryotic parasites, exemplifies alternate historical routes for cytokinesis that illustrate the range of eukaryotic diversity, especially among unicellular organisms.     

Helpful amnesia: Neuroscience unravels the role of forgetting as a prerequisite for establishing new long‐term memories

As neuroscience has been analysing the mechanisms behind long‐term memory, it demonstrated that forgetting is crucial for being able to remember.

“To be able to forget means sanity,” explained American writer Jack London (The Star Rover) referring to our sometimes infuriating inability to recall past events. In fact, being able to remember everything ever said and done might drive even the strongest mind insane. It is through forgetting and letting go of memories that the brain is able to acquire fresh impressions and new experience to move on, instead of being mired in the past.The importance of forgetting also fits well into and has inspired research to understand the molecular and cognitive basis of long‐term memory and how all the components and processes fit together. This puzzle of what is being remembered and why has been a long‐standing challenge for neuroscience; while progress has been made identifying more of the mechanisms and some of the existential drivers of memory formation, it is only recently that work has begun analyzing how these interact in animal models, often focusing on how the brain “decides” which things to remember and which things to send into oblivion.

This puzzle of what is being remembered and why has been a long‐standing challenge for neuroscience…

As a result, the field now sees collaboration across disciplines, driven by the realization that different parts and processes all play a part in memory formation and long‐term consolidation. This has led to one tangible if still tentative conclusion about long‐term memory, namely that forgetting occurs through loss of retrieval capability rather than erasure. It would appear to confirm the observation attributed to German philosopher Friedrich Nietzsche that “the existence of forgetting has never been proved: we only know that some things do not come to our mind when we want them to.”

The existence of forgetting has never been proved: we only know that some things do not come to our mind when we want them to.

     

How Recent History Affects Perception: The Normative Approach and Its Heuristic Approximation

There is accumulating evidence that prior knowledge about expectations plays an important role in perception. The Bayesian framework is the standard computational approach to explain how prior knowledge about the distribution of expected stimuli is incorporated with noisy observations in order to improve performance. However, it is unclear what information about the prior distribution is acquired by the perceptual system over short periods of time and how this information is utilized in the process of perceptual decision making. Here we address this question using a simple two-tone discrimination task. We find that the “contraction bias”, in which small magnitudes are overestimated and large magnitudes are underestimated, dominates the pattern of responses of human participants. This contraction bias is consistent with the Bayesian hypothesis in which the true prior information is available to the decision-maker. However, a trial-by-trial analysis of the pattern of responses reveals that the contribution of most recent trials to performance is overweighted compared with the predictions of a standard Bayesian model. Moreover, we study participants'' performance in a-typical distributions of stimuli and demonstrate substantial deviations from the ideal Bayesian detector, suggesting that the brain utilizes a heuristic approximation of the Bayesian inference. We propose a biologically plausible model, in which decision in the two-tone discrimination task is based on a comparison between the second tone and an exponentially-decaying average of the first tone and past tones. We show that this model accounts for both the contraction bias and the deviations from the ideal Bayesian detector hypothesis. These findings demonstrate the power of Bayesian-like heuristics in the brain, as well as their limitations in their failure to fully adapt to novel environments.     

Sensory ecology and perceptual allocation: new prospects for neural networks

Sensory ecology provides a conceptual framework for considering how animals ought to design sensory systems to capture meaningful information from their environments. The framework has been particularly successful at describing how one should allocate sensory receptors to maximize performance on a given task. Neural networks, in contrast, have made unique contributions to understanding how 'hidden preferences' can emerge as a by-product of sensory design. The two frameworks comprise complementary techniques for understanding the design and the evolution of sensation. This article reviews empirical literature from multiple modalities and levels of sensory processing, considering vision, audition and touch from the viewpoints of sensory ecology and neuroethology. In the process, it presents modifications of extant neural network algorithms that would allow a more effective integration of these diverse approaches. Together, the reviewed literature suggests important advances that can be made by explicitly formulating neural network models in terms of sensory ecology, by incorporating neural costs into models of perceptual evolution and by exploring how such demands interact with historical forces.     

Re-Examination of Globally Flat Space-Time

In the following, we offer a novel approach to modeling the observed effects currently attributed to the theoretical concepts of “dark energy,” “dark matter,” and “dark flow.” Instead of assuming the existence of these theoretical concepts, we take an alternative route and choose to redefine what we consider to be inertial motion as well as what constitutes an inertial frame of reference in flat space-time. We adopt none of the features of our current cosmological models except for the requirement that special and general relativity be local approximations within our revised definition of inertial systems. Implicit in our ideas is the assumption that at “large enough” scales one can treat objects within these inertial systems as point-particles having an insignificant effect on the curvature of space-time. We then proceed under the assumption that time and space are fundamentally intertwined such that time- and spatial-translational invariance are not inherent symmetries of flat space-time (i.e., observable clock rates depend upon both relative velocity and spatial position within these inertial systems) and take the geodesics of this theory in the radial Rindler chart as the proper characterization of inertial motion. With this commitment, we are able to model solely with inertial motion the observed effects expected to be the result of “dark energy,” “dark matter,” and “dark flow.” In addition, we examine the potential observable implications of our theory in a gravitational system located within a confined region of an inertial reference frame, subsequently interpreting the Pioneer anomaly as support for our redefinition of inertial motion. As well, we extend our analysis into quantum mechanics by quantizing for a real scalar field and find a possible explanation for the asymmetry between matter and antimatter within the framework of these redefined inertial systems.     

The Gap between Individual Perception and Compliance: A Qualitative Follow-Up Study of the Surgical Safety Checklist Application

Background

“The Surgical Safety Checklist (SSC) is important, but we don’t use it adequately” is a well-suited statement that reflects the SSC''s application in hospitals. Our aim was to follow up on our initial study on compliance (2014) by analysing differences between individual perception and compliance with the SSC.

Methods

We conducted a follow-up online survey to assess healthcare professionals’ individual perception of, as well as satisfaction and compliance with the SSC three years following its thorough implementation.

Results

171 (19.5%) of 875 operating team members completed the online survey. 99.4% confirmed using the SSC. Self-estimated subjective knowledge about the intention of the checklist was high, whereas objective knowledge was moderate, but improved as compared to 2014. According to an independent audit the SSC was used in 93.1% of all operations and among the SSCs used the completion rate was 57.2%. The use of the SSC was rated as rather easy [median (IQR): 7 (6–7)], familiar [7 (6–7)], generally important [7 (7–7)], and good for patients [7 (6–7)] as well as for employees [7 (7–7)]. Only comfort of use was rated lower [6 (5–7)].

Conclusion

There is a gap between individual perception and actual application of the SSC. Despite healthcare professionals confirming the importance of the SSC, compliance was moderate. The introduction of SSCs in the health care sector remains a constant challenge and requires continuous re-evaluation as well as a sensible integration into existing workflows in hospitals.     

The traits of “trait ecologists”: An analysis of the use of trait and functional trait terminology

Trait and functional trait approaches have revolutionized ecology improving our understanding of community assembly, species coexistence, and biodiversity loss. Focusing on traits promotes comparability across spatial and organizational scales, but terms must be used consistently. While several papers have offered definitions, it remains unclear how ecologists operationalize “trait” and “functional trait” terms. Here, we evaluate how researchers and the published literatures use these terms and explore differences among subdisciplines and study systems (taxa and biome). By conducting both a survey and a literature review, we test the hypothesis that ecologists’ working definition of “trait” is adapted or altered when confronting the realities of collecting, analyzing and presenting data. From 486 survey responses and 712 reviewed papers, we identified inconsistencies in the understanding and use of terminology among researchers, but also limited inclusion of definitions within the published literature. Discrepancies were not explained by subdiscipline, system of study, or respondent characteristics, suggesting there could be an inconsistent understanding even among those working in related topics. Consistencies among survey responses included the use of morphological, phonological, and physiological traits. Previous studies have called for unification of terminology; yet, our study shows that proposed definitions are not consistently used or accepted. Sources of disagreement include trait heritability, defining and interpreting function, and dealing with organisms in which individuals are not clearly recognizable. We discuss and offer guidelines for overcoming these disagreements. The diversity of life on Earth means traits can represent different features that can be measured and reported in different ways, and thus, narrow definitions that work for one system will fail in others. We recommend ecologists embrace the breadth of biodiversity using a simplified definition of “trait” more consistent with its common use. Trait‐based approaches will be most powerful if we accept that traits are at least as diverse as trait ecologists.