Publications

Abstract

Written language comprehension requires readers to integrate incoming information with stored mental knowledge to construct meaning. Literally plausible idiomatic expressions can activate both figurative and literal interpretations, which convey different meanings. Previous research has shown that contexts biasing the figurative or literal interpretation of an idiom can facilitate its processing. Moreover, there is evidence that processing of idiomatic expressions is subject to individual differences in linguistic knowledge and cognitive-linguistic skills. It is therefore conceivable that individuals vary in the extent to which they experience context-induced facilitation in processing idiomatic expressions. To explore the interplay between reader-related variables and contextual facilitation, we conducted a self-paced reading experiment. We recruited participants who had recently completed a battery of 33 behavioural tests measuring individual differences in linguistic knowledge, general cognitive skills and linguistic processing skills. In the present experiment, a subset of these participants read idiomatic expressions that were either presented in isolation or preceded by a figuratively or literally biasing context. We conducted analyses on the reading times of idiom-final nouns and the word thereafter (spill-over region) across the three conditions, including participants’ scores from the individual differences battery. Our results showed no main effect of the preceding context, but substantial variation in contextual facilitation between readers. We observed main effects of participants’ word reading ability and non-verbal intelligence on reading times as well as an interaction between condition and linguistic knowledge. We encourage interested researchers to exploit the present dataset for follow-up studies on individual differences in idiom processing.

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental condition with a clear, but heterogeneous, genetic component. Germline mutations in the tumor suppressor Pten are a well-established risk factor for ASD with macrocephaly, and conditional Pten mouse models have impaired social behavior and brain development. Some mutations observed in patients disrupt the normally balanced nuclear-cytoplasmic localization of the Pten protein, and we developed the Ptenm3m4 model to study the effects of a cytoplasm-predominant Pten. In this model, germline mislocalization of Pten causes inappropriate social behavior with intact learning and memory, a profile reminiscent of high-functioning ASD. These animals also exhibit histological evidence of neuroinflammation and expansion of glial populations by 6 weeks of age. We hypothesized that the neural transcriptome of this model would be altered in a manner that could inform human idiopathic ASD, a constitutional condition. Using total RNA sequencing, we found progressive disruption of neural gene expression in Ptenm3m4 mice from 2–6 weeks of age, involving both immune and synaptic pathways. These alterations include downregulation of many highly coexpressed human ASD-susceptibility genes. Comparison with a human cortical development coexpression network revealed that genes disrupted in Ptenm3m4 mice were enriched in the same areas as those of human ASD. Although Pten-related ASD is relatively uncommon, our observations suggest that the Ptenm3m4 model recapitulates multiple molecular features of human ASD, and that Pten operates far upstream of common pathways within ASD pathogenesis.

Abstract

Synesthesia is a rare nonpathological phenomenon where stimulation of one sense automatically provokes a secondary perception in another. Hypothesized to result from differences in cortical wiring during development, synesthetes show atypical structural and functional neural connectivity, but the underlying molecular mechanisms are unknown. The trait also appears to be more common among people with autism spectrum disorder and savant abilities. Previous linkage studies searching for shared loci of large effect size across multiple families have had limited success. To address the critical lack of candidate genes, we applied whole-exome sequencing to three families with sound–color (auditory–visual) synesthesia affecting multiple relatives across three or more generations. We identified rare genetic variants that fully cosegregate with synesthesia in each family, uncovering 37 genes of interest. Consistent with reports indicating genetic heterogeneity, no variants were shared across families. Gene ontology analyses highlighted six genes—COL4A1, ITGA2, MYO10, ROBO3, SLC9A6, and SLIT2—associated with axonogenesis and expressed during early childhood when synesthetic associations are formed. These results are consistent with neuroimaging-based hypotheses about the role of hyperconnectivity in the etiology of synesthesia and offer a potential entry point into the neurobiology that organizes our sensory experiences.

Abstract

Structural brain changes along the lineage leading to modern Homo sapiens contributed to our distinctive cognitive and social abilities. However, the evolutionarily relevant molecular variants impacting key aspects of neuroanatomy are largely unknown. Here, we integrate evolutionary annotations of the genome at diverse timescales with common variant associations from large-scale neuroimaging genetic screens. We find that alleles with evidence of recent positive polygenic selection over the past 2000–3000 years are associated with increased surface area (SA) of the entire cortex, as well as specific regions, including those involved in spoken language and visual processing. Therefore, polygenic selective pressures impact the structure of specific cortical areas even over relatively recent timescales. Moreover, common sequence variation within human gained enhancers active in the prenatal cortex is associated with postnatal global SA. We show that such variation modulates the function of a regulatory element of the developmentally relevant transcription factor HEY2 in human neural progenitor cells and is associated with structural changes in the inferior frontal cortex. These results indicate that non-coding genomic regions active during prenatal cortical development are involved in the evolution of human brain structure and identify novel regulatory elements and genes impacting modern human brain structure.

Abstract

Peak bone mass achieved in adolescence is a determinant of bone mass in later life. In order to identify genetic variants affecting bone mineral density (BMD), we performed a genome-wide association study of BMD and related traits in 1518 children from the Avon Longitudinal Study of Parents and Children (ALSPAC). We compared results with a scan of 134 adults with high or low hip BMD. We identified associations with BMD in an area of chromosome 12 containing the Osterix (SP7) locus, a transcription factor responsible for regulating osteoblast differentiation (ALSPAC: P = 5.8 x 10(-4); Australia: P = 3.7 x 10(-4)). This region has previously shown evidence of association with adult hip and lumbar spine BMD in an Icelandic population, as well as nominal association in a UK population. A meta-analysis of these existing studies revealed strong association between SNPs in the Osterix region and adult lumbar spine BMD (P = 9.9 x 10(-11)). In light of these findings, we genotyped a further 3692 individuals from ALSPAC who had whole body BMD and confirmed the association in children as well (P = 5.4 x 10(-5)). Moreover, all SNPs were related to height in ALSPAC children, but not weight or body mass index, and when height was included as a covariate in the regression equation, the association with total body BMD was attenuated. We conclude that genetic variants in the region of Osterix are associated with BMD in children and adults probably through primary effects on growth.

Abstract

This paper explores phrase-length-related alternations in the association of tones to positions in metrical structure in two melodic constructions of Spanish. An imitation-and-completion task eliciting (a) the low–falling–rising contour and (b) the circumflex contour on intonation phrases (IPs) of one, two, and three prosodic words revealed that, although the focus structure and pragmatic context is constant across conditions, phrases containing one prosodic word differ in their nuclear (i.e. final) pitch accents and edge tones from phrases containing more than one prosodic word. For contour (a), short intonation phrases (e.g. [ Ma no lo ] IP ) were produced with a low accent followed by a high edge tone (L ∗ H% in ToBI notation), whereas longer phrases (e.g. [ El her ma no de la a m igadeMa no lo ] IP ‘Manolo’s friend’s brother’) had a low accent on the first stressed syllable, a rising accent on the last stressed syllable, and a low edge tone (L ∗ L+H ∗ L%). For contour (b), short phrases were produced with a high–rise (L+H ∗ ¡H%), whereas longer phrases were produced with an initial accentual rise followed by an upstepped rise–fall (L+H ∗ ¡H ∗ L%). These findings imply that the common practice of describing the structure of intonation contours as consisting of a constant nuclear pitch accent and following edge tone is not adequate for modeling Spanish intonation. To capture the observed melodic alternations, we argue for clearer separation between tones and metrical structure, whereby intonational tones do not necessarily have an intrinsic culminative or delimitative function (i.e. as pitch accents or as edge tones). Instead, this function results from melody-specific principles of tonal–metrical association.

Abstract

Vocal plasticity can occur in response to environmental and biological factors, including conspecifics' vocalizations and noise. Pinnipeds are one of the few mammalian groups capable of vocal learning, and are therefore relevant to understanding the evolution of vocal plasticity in humans and other animals. Here, we investigate the vocal plasticity of harbour seals (Phoca vitulina), a species with vocal learning abilities observed in adulthood but not puppyhood. To evaluate early mammalian vocal development, we tested 1–3 weeks-old seal pups. We tailored noise playbacks to this species and age to induce seal pups to shift their fundamental frequency (f0), rather than adapt call amplitude or temporal characteristics. We exposed individual pups to low- and high-intensity bandpass-filtered noise, which spanned—and masked—their typical range of f0; simultaneously, we recorded pups' spontaneous calls. Unlike most mammals, pups modified their vocalizations by lowering their f0 in response to increased noise. This modulation was precise and adapted to the particular experimental manipulation of the noise condition. In addition, higher levels of noise induced less dispersion around the mean f0, suggesting that pups may have actively focused their phonatory efforts to target lower frequencies. Noise did not seem to affect call amplitude. However, one seal showed two characteristics of the Lombard effect known for human speech in noise: significant increase in call amplitude and flattening of spectral tilt. Our relatively low noise levels may have favoured f0 modulation while inhibiting amplitude adjustments. This lowering of f0 is unusual, as most animals commonly display no such f0 shift. Our data represent a relatively rare case in mammalian neonates, and have implications for the evolution of vocal plasticity and vocal learning across species, including humans.

Abstract

In referential communication, Grice's Maxim of Quantity is thought to imply that utterances conveying unnecessary information should incur comprehension difficulties. There is, however, considerable evidence that speakers frequently encode redundant information in their referring expressions, raising the question as to whether such overspecifications hinder listeners' processing. Evidence from previous work is inconclusive, and mostly comes from offline studies. In this article, we present two event-related potential (ERP) experiments, investigating the real-time comprehension of referring expressions that contain redundant adjectives in complex visual contexts. Our findings provide support for both Gricean and bounded-rational accounts. We argue that these seemingly incompatible results can be reconciled if common ground is taken into account. We propose a bounded-rational account of overspecification, according to which even redundant words can be beneficial to comprehension to the extent that they facilitate the reduction of listeners' uncertainty regarding the target referent.

Abstract

Bilingual children with reduced exposure to one or both languages may have language profiles that are
apparently similar to those of children with developmental language disorder (DLD). Children with
DLD receive enough input, but have difficulty using this input for acquisition due to processing deficits.
The present investigation aims to determine aspects of adjective production that are differentially
affected by reduced input (in bilingualism) and reduced intake (in DLD). Adjectives were elicited
from Dutch–Russian simultaneous bilinguals with limited exposure to Russian and Russian-speaking
monolinguals with andwithout DLD.Anantonymelicitation taskwas used to assess the size of adjective
vocabularies, and a degree task was employed to compare the preferences of the three groups in the
use of morphological, lexical, and syntactic degree markers. The results revealed that adjective–noun
agreement is affected to the same extent by both reduced input and reduced intake. The size of adjective
lexicons is also negatively affected by both, but more so by reduced exposure. However, production
of morphological degree markers and learning of semantic paradigms are areas of relative strength in
which bilinguals outperform monolingual children with DLD.We suggest that reduced input might be
counterbalanced by linguistic and cognitive advantages of bilingualism

Abstract

Fluctuations in pupil size have been shown to reflect variations in processing demands during lexical and syntactic processing in language comprehension. An issue that has not received attention is whether pupil size also varies due to pragmatic manipulations. In two pupillometry experiments, we investigated whether pupil diameter was sensitive to increased processing demands as a result of comprehending an indirect request versus a direct statement. Adult participants were presented with 120 picture–sentence combinations that could be interpreted either as an indirect request (a picture of a window with the sentence “it's very hot here”) or as a statement (a picture of a window with the sentence “it's very nice here”). Based on the hypothesis that understanding indirect utterances requires additional inferences to be made on the part of the listener, we predicted a larger pupil diameter for indirect requests than statements. The results of both experiments are consistent with this expectation. We suggest that the increase in pupil size reflects additional processing demands for the comprehension of indirect requests as compared to statements. This research demonstrates the usefulness of pupillometry as a tool for experimental research in pragmatics

Abstract

When we comprehend language, we often do this in rich settings in which we can use many cues to understand what someone is saying. However, it has traditionally been difficult to design experiments with rich three-dimensional contexts that resemble our everyday environments, while maintaining control over the linguistic and non-linguistic information that is available. Here we test the validity of combining electroencephalography (EEG) and Virtual Reality (VR) to overcome this problem. We recorded electrophysiological brain activity during language processing in a well-controlled three-dimensional virtual audiovisual environment. Participants were immersed in a virtual restaurant, while wearing EEG equipment. In the restaurant participants encountered virtual restaurant guests. Each guest was seated at a separate table with an object on it (e.g. a plate with salmon). The restaurant guest would then produce a sentence (e.g. “I just ordered this salmon.”). The noun in the spoken sentence could either match (“salmon”) or mismatch (“pasta”) with the object on the table, creating a situation in which the auditory information was either appropriate or inappropriate in the visual context. We observed a reliable N400 effect as a consequence of the mismatch. This finding validates the combined use of VR and EEG as a tool to study the neurophysiological mechanisms of everyday language comprehension in rich, ecologically valid settings.

Abstract

Animacy, commonly defined as the distinction between living and non-living entities, is a useful notion in cognitive science and linguistics employed to describe and predict variation in psychological and linguistic behaviour. In the (psycho)linguistics literature we find linguistic animacy dichotomies which are (implicitly) assumed to correspond to biological dichotomies. We argue this is problematic, as it leaves us without a cognitively grounded, universal description for non-prototypical cases. We show that ‘animacy’ in language can be better understood as universally emerging from a gradual, cognitive property by collecting animacy ratings for a great range of nouns from Japanese and Persian. We used these cognitive ratings in turn to predict linguistic variation in these languages traditionally explained through dichotomous distinctions. We show that whilst (speakers of) languages may subtly differ in their conceptualisation of animacy, universality may be found in the process of mapping conceptual animacy to linguistic variation.

Abstract

Narrative fiction may invite us to share the perspective of characters which are very much unlike ourselves. Inanimate objects featuring as protagonists or narrators are an extreme example of this. The way readers experience these characters was examined by means of a narrative immersion study. Participants (N = 200) judged narratives containing animate or inanimate characters in predominantly Agent or Experiencer roles. Narratives with inanimate characters were judged to be less emotionally engaging. This effect was influenced by the dominant thematic role associated with the character: inanimate Agents led to more defamiliarization compared to their animate counterparts than inanimate Experiencers. I argue for an integrated account of thematic roles and animacy in literary experience and linguistics in general.

Abstract

We show by means of a corpus study that the language used by the inanimate first person narrator in the novel Specht en zoon deviates from what we would expect on the basis of the fact that the narrator is inanimate, but at the same time also differsfrom the language of a human narrator in the novel De wijde blik on several linguistic dimensions. Whereas the human narrator is associated strongly with action verbs, preferring the Agent role, the inanimate narrator is much more limited to the Experiencer role, predominantly associated with cognition and sensory verbs. Our results show that animacy as a linguistic concept may be refined by taking into account the myriad ways in which an entity’s conceptual animacy may be expressed: we accept the conceptual animacy of the inanimate narrator despite its inability to act on its environment, showing this need not be a requirement for animacy

Abstract

During natural conversation, people must quickly understand the meaning of what the other speaker is saying. This concerns not just the semantic content of an utterance, but also the social action (i.e., what the utterance is doing—requesting information, offering, evaluating, checking mutual understanding, etc.) that the utterance is performing. The multimodal nature of human language raises the question of whether visual signals may contribute to the rapid processing of such social actions. However, while previous research has shown that how we move reveals the intentions underlying instrumental actions, we do not know whether the intentions underlying fine-grained social actions in conversation are also revealed in our bodily movements. Using a corpus of dyadic conversations combined with manual annotation and motion tracking, we analyzed the kinematics of the torso, head, and hands during the asking of questions. Manual annotation categorized these questions into six more fine-grained social action types (i.e., request for information, other-initiated repair, understanding check, stance or sentiment, self-directed, active participation). We demonstrate, for the first time, that the kinematics of the torso, head and hands differ between some of these different social action categories based on a 900 ms time window that captures movements starting slightly prior to or within 600 ms after utterance onset. These results provide novel insights into the extent to which our intentions shape the way that we move, and provide new avenues for understanding how this phenomenon may facilitate the fast communication of meaning in conversational interaction, social action, and conversation

Abstract

In everyday conversation, we are often challenged with communicating in non-ideal settings, such as in noise. Increased speech intensity and larger mouth movements are used to overcome noise in constrained settings (the Lombard effect). How we adapt to noise in face-to-face interaction, the natural environment of human language use, where manual gestures are ubiquitous, is currently unknown. We asked Dutch adults to wear headphones with varying levels of multi-talker babble while attempting to communicate action verbs to one another. Using quantitative motion capture and acoustic analyses, we found that (1) noise is associated with increased speech intensity and enhanced gesture kinematics and mouth movements, and (2) acoustic modulation only occurs when gestures are not present, while kinematic modulation occurs regardless of co-occurring speech. Thus, in face-to-face encounters the Lombard effect is not constrained to speech but is a multimodal phenomenon where the visual channel carries most of the communicative burden.

Abstract

In human communication, social intentions and meaning are often revealed in the way we move. In this study, we investigate the flexibility of human communication in terms of kinematic modulation in a clinical population, namely, autistic individuals. The aim of this study was twofold: to assess (a) whether communicatively relevant kinematic features of gestures differ between autistic and neurotypical individuals, and (b) if autistic individuals use communicative kinematic modulation to support gesture recognition. We tested autistic and neurotypical individuals on a silent gesture production task and a gesture comprehension task. We measured movement during the gesture production task using a Kinect motion tracking device in order to determine if autistic individuals differed from neurotypical individuals in their gesture kinematics. For the gesture comprehension task, we assessed whether autistic individuals used communicatively relevant kinematic cues to support recognition. This was done by using stick-light figures as stimuli and testing for a correlation between the kinematics of these videos and recognition performance. We found that (a) silent gestures produced by autistic and neurotypical individuals differ in communicatively relevant kinematic features, such as the number of meaningful holds between movements, and (b) while autistic individuals are overall unimpaired at recognizing gestures, they processed repetition and complexity, measured as the amount of submovements perceived, differently than neurotypicals do. These findings highlight how subtle aspects of neurotypical behavior can be experienced differently by autistic individuals. They further demonstrate the relationship between movement kinematics and social interaction in high-functioning autistic individuals.

Abstract

Actions may be used to directly act on the world around us, or as a means of communication. Effective communication requires the addressee to recognize the act as being communicative. Humans are sensitive to ostensive communicative cues, such as direct eye gaze (Csibra & Gergely, 2009). However, there may be additional cues present in the action or gesture itself. Here we investigate features that characterize the initiation of a communicative interaction in both production and comprehension.

We asked 40 participants to perform 31 pairs of object-directed actions and representational gestures in more- or less- communicative contexts. Data were collected using motion capture technology for kinematics and video recording for eye-gaze. With these data, we focused on two issues. First, if and how actions and gestures are systematically modulated when performed in a communicative context. Second, if observers exploit such kinematic information to classify an act as communicative.

Our study showed that during production the communicative context modulates space–time dimensions of kinematics and elicits an increase in addressee-directed eye-gaze. Naïve participants detected communicative intent in actions and gestures preferentially using eye-gaze information, only utilizing kinematic information when eye-gaze was unavailable.

Our study highlights the general communicative modulation of action and gesture kinematics during production but also shows that addressees only exploit this modulation to recognize communicative intention in the absence of eye-gaze. We discuss these findings in terms of distinctive but potentially overlapping functions of addressee directed eye-gaze and kinematic modulations within the wider context of human communication and learning.

Abstract

Spanish–English bilinguals rarely code-switch in the perfect structure between the Spanish auxiliary haber (“to have”) and the participle (e.g., “Ella ha voted”; “She has voted”). However, they are somewhat likely to switch in the progressive structure between the Spanish auxiliary estar (“to be”) and the participle (“Ella está voting”; “She is voting”). This phenomenon is known as the “auxiliary phrase asymmetry”. One hypothesis as to why this occurs is that estar has more semantic weight as it also functions as an independent verb, whereas haber is almost exclusively used as an auxiliary verb. To test this hypothesis, we employed a connectionist model that produces spontaneous code-switches. Through simulation experiments, we showed that i) the asymmetry emerges in the model and that ii) the asymmetry disappears when using haber also as a main verb, which adds semantic weight. Therefore, the lack of semantic weight of haber may indeed cause the asymmetry.

Abstract

Code-switching is the alternation from one language to the other during bilingual speech. We present a novel method of researching this phenomenon using computational cognitive modeling. We trained a neural network of bilingual sentence production to simulate early balanced Spanish–English bilinguals, late speakers of English who have Spanish as a dominant native language, and late speakers of Spanish who have English as a dominant native language. The model produced code-switches even though it was not exposed to code-switched input. The simulations predicted how code-switching patterns differ between early balanced and late non-balanced bilinguals; the balanced bilingual simulation code-switches considerably more frequently, which is in line with what has been observed in human speech production. Additionally, we compared the patterns produced by the simulations with two corpora of spontaneous bilingual speech and identified noticeable commonalities and differences. To our knowledge, this is the first computational cognitive model simulating the code-switched production of non-balanced bilinguals and comparing the simulated production of balanced and non-balanced bilinguals with that of human bilinguals.

Abstract

Although toddlers in their 2nd year of life generally have phonologically detailed representations of words, a consistent lack of sensitivity to certain kinds of phonological changes has been reported. The origin of these insensitivities is poorly understood, and uncovering their cause is crucial for obtaining a complete picture of early phonological development. The present study explored the origins of the insensitivity to the change from coronal to labial consonants. In cross-linguistic research, we assessed to what extent this insensitivity is language-specific (or would show both in learners of Dutch and a very different language like Japanese), and contrast/direction-specific to the coronal-to-labial change (or would also extend to the coronal-to-dorsal change). We measured Dutch and Japanese 18-month-old toddlers' sensitivity to labial and dorsal mispronunciations of newly learned coronal-initial words. Both Dutch and Japanese toddlers showed reduced sensitivity to the coronal-to-labial change, although this effect was more pronounced in Dutch toddlers. The lack of sensitivity was also specific to the coronal-to-labial change because toddlers from both language backgrounds were highly sensitive to dorsal mispronunciations. Combined with results from previous studies, the present outcomes are most consistent with an early, language-general bias specific to the coronal-to-labial change, which is modified by the properties of toddlers' early, language-specific lexicon

Abstract

The majority of studies addressing psycholinguistic questions focus on speech produced and processed in a careful, laboratory speech style. This ‘careful’ speech is very different from the speech that listeners encounter in casual conversations. This article argues that research on casual speech is necessary to show the validity of conclusions based on careful speech. Moreover, research on casual speech produces new insights and questions on the processes underlying communication and on the mental lexicon that cannot be revealed by research using careful speech. This article first places research on casual speech in its historic perspective. It then provides many examples of how casual speech differs from careful speech and shows that these differences may have important implications for psycholinguistic theories. Subsequently, the article discusses the challenges that research on casual speech faces, which stem from the high variability of this speech style, its necessary casual context, and that casual speech is connected speech. We also present opportunities for research on casual speech, mostly in the form of new experimental methods that facilitate research on connected speech. However, real progress can only be made if these new methods are combined with advanced (still to be developed) statistical techniques.

Abstract

Two artificial-language learning experiments directly compared English, French, and Dutch listeners’ use of suprasegmental cues for continuous-speech segmentation. In both experiments, listeners heard unbroken sequences of consonant-vowel syllables, composed of recurring three- and four-syllable “words.” These words were demarcated by(a) no cue other than transitional probabilities induced by their recurrence, (b) a consistent left-edge cue, or (c) a consistent right-edge cue. Experiment 1 examined a vowel lengthening cue. All three listener groups benefited from this cue in right-edge position; none benefited from it in left-edge position. Experiment 2 examined a pitch-movement cue. English listeners used this cue in left-edge position, French listeners used it in right-edge position, and Dutch listeners used it in both positions. These findings are interpreted as evidence of both language-universal and language-specific effects. Final lengthening is a language-universal effect expressing a more general (non-linguistic) mechanism. Pitch movement expresses prominence which has characteristically different placements across languages: typically at right edges in French, but at left edges in English and Dutch. Finally, stress realization in English versus Dutch encourages greater attention to suprasegmental variation by Dutch than by English listeners, allowing Dutch listeners to benefit from an informative pitch-movement cue even in an uncharacteristic position.

Abstract

We examined side preferences in the Florida manatee (Trichechus manatus latirostris) through observations of limb use (right and left flipper) in 123 wild and 16 captive individuals. We also analyzed archival data, the United States Geological Survey Sirenia ProjectManatee Individual Photo-identification Systemdataset, to determine lateralization of evasive action from boats. Wild and captive manatees displayed flipper lateralization at the individual, but not the population level for several behaviors including substrate touches, sculling, and feeding. In contrast, manatees were lateralized at the population level for boat-scar biases,with more manatees showing a left scar bias (45.3%) versus right (34.3%) or dorsal/ambipreferent (20.3%).

Abstract

The paper reports the results of a learnability experiment with German speakers, investigating the role of universal phonotactic constraints and language use in language processing. Making use of an artificial language paradigm, participants learned nonce words with existent and non-existent German final consonant clusters adhering to or violating sonority sequencing principles postulated for consonant clusters. Behavioural data and event-related brain potentials in response to these cluster properties were obtained twice, before and after learning word-picture-pairs. The results show (1) that learning and processing of final consonant clusters is facilitated by adherence to the sonority hierarchy, and (2) that actual existence of well- and ill-formed consonant clusters aids processing mechanisms. Thus, both implicit knowledge of universal phonotactic principles and frequency-based factors are demonstrated to play a role in the online-processing of words.

Abstract

When monitoring the origins of their memories, people tend to mistakenly attribute mem- ories generated from internal processes (e.g., imagination, visualization) to perception. Here, we ask whether speaking a language that obligatorily encodes the source of informa- tion might help prevent such errors. We compare speakers of English to speakers of Turkish, a language that obligatorily encodes information source (direct/perceptual vs. indirect/hearsay or inference) for past events. In our experiments, participants reported having seen events that they had only inferred from post-event visual evidence. In general, error rates were higher when visual evidence that gave rise to inferences was relatively close to direct visual evidence. Furthermore, errors persisted even when participants were asked to report the specific sources of their memories. Crucially, these error patterns were equivalent across language groups, suggesting that speaking a language that obligatorily encodes source of information does not increase sensitivity to the distinction between per- ception and inference in event memory.

Abstract

It has long been recognized that language interacts with visual and spatial processes. However, the nature and extent of these interactions are widely debated. The goal of this article is to review empirical findings across several domains to understand whether language affects the way speakers conceptualize the world even when they are not speaking or understanding speech. A second goal of the present review is to shed light on the mechanisms through which effects of language are transmitted. Across domains, there is growing support for the idea that although language does not lead to long-lasting changes in mental representations, it exerts powerful influences during momentary mental computations by either modulating attention or augmenting representational power

Abstract

Although children typically comprehend the links between specific forms and their mean- ings before they produce the forms themselves, the opposite pattern also occurs. The nat- ure of these ‘reverse asymmetries’ between production and comprehension remains debated. Here we focus on a striking case where production precedes comprehension in the acquisition of Turkish evidential morphology and explore theoretical explanations of this asymmetry. We show that 3- to 6-year-old Turkish learners produce evidential mor- phemes accurately (Experiment 1) but have difficulty with evidential comprehension (Experiment 2). Furthermore, comprehension failures persist across multiple tasks (Experiments 3–4). We suggest that evidential comprehension is delayed by the develop- ment of mental perspective-taking abilities needed to compute others’ knowledge sources. In support for this hypothesis, we find that children have difficulty reasoning about others’ evidence in non-linguistic tasks but the difficulty disappears when the tasks involve accessing one’s own evidential sources (Experiment 5)

Abstract

Synapse development and neuronal activity represent fundamental processes for the establishment of cognitive function. Structural organization as well as signalling pathways from receptor stimulation to gene expression regulation are mediated by synaptic activity and misregulated in neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability (ID). Deleterious mutations in the PTCHD1 (Patched domain containing 1) gene have been described in male patients with X-linked ID and/or ASD. The structure of PTCHD1 protein is similar to the Patched (PTCH1) receptor; however, the cellular mechanisms and pathways associated with PTCHD1 in the developing brain are poorly determined. Here we show that PTCHD1 displays a C-terminal PDZ-binding motif that binds to the postsynaptic proteins PSD95 and SAP102. We also report that PTCHD1 is unable to rescue the canonical sonic hedgehog (SHH) pathway in cells depleted of PTCH1, suggesting that both proteins are involved in distinct cellular signalling pathways. We find that Ptchd1 deficiency in male mice (Ptchd1−/y) induces global changes in synaptic gene expression, affects the expression of the immediate-early expression genes Egr1 and Npas4 and finally impairs excitatory synaptic structure and neuronal excitatory activity in the hippocampus, leading to cognitive dysfunction, motor disabilities and hyperactivity. Thus our results support that PTCHD1 deficiency induces a neurodevelopmental disorder causing excitatory synaptic dysfunction.

Abstract

A considerable amount of the population in more economically developed countries are functionally illiterate (i.e., low literate). Despite some years of schooling and basic reading skills, these individuals cannot properly read and write and, as a consequence have problems to understand even short texts. An often-discussed approach (Greenberg et al., 1997) assumes weak phonological processing skills coupled with untreated developmental dyslexia as possible causes of functional illiteracy. Although there is some data suggesting commonalities between low literacy and developmental dyslexia, it is still not clear, whether these reflect shared consequences (i.e., cognitive and behavioral profile) or shared causes. The present systematic review aims at exploring the similarities and differences identified in empirical studies investigating both functional illiterate and developmental dyslexic samples. Nine electronic databases were searched in order to identify all quantitative studies published in English or German. Although a broad search strategy and few limitations were applied, only 5 studies have been identified adequate from the resulting 9269 references. The results point to the lack of studies directly comparing functional illiterate with developmental dyslexic samples. Moreover, a huge variance has been identified between the studies in how they approached the concept of functional illiteracy, particularly when it came to critical categories such the applied definition, terminology, criteria for inclusion in the sample, research focus, and outcome measures. The available data highlight the need for more direct comparisons in order to understand what extent functional illiteracy and dyslexia share common characteristics.

Abstract

Perceptual and sensorimotor timing skills can be thoroughly assessed with the Battery for the Assessment of Auditory Sensorimotor and Timing Abilities (BAASTA). The battery has been used for testing rhythmic skills in healthy adults and patient populations (e.g., with Parkinson disease), showing sensitivity to timing and rhythm deficits. Here we assessed the test-retest reliability of the BAASTA in 20 healthy adults. Participants were tested twice with the BAASTA, implemented on a tablet interface, with a 2-week interval. They completed 4 perceptual tasks, namely, duration discrimination, anisochrony detection with tones and music, and the Beat Alignment Test (BAT). Moreover, they completed motor tasks via finger tapping, including unpaced and paced tapping with tones and music, synchronization-continuation, and adaptive tapping to a sequence with a tempo change. Despite high variability among individuals, the results showed good test-retest reliability in most tasks. A slight but significant improvement from test to retest was found in tapping with music, which may reflect a learning effect. In general, the BAASTA was found a reliable tool for evaluating timing and rhythm skills.

Abstract

How does the brain respond to statements that clash with a person's value system? We recorded event-related brain potentials while respondents from contrasting political-ethical backgrounds completed an attitude survey on drugs, medical ethics, social conduct, and other issues. Our results show that value-based disagreement is unlocked by language extremely rapidly, within 200 to 250 ms after the first word that indicates a clash with the reader's value system (e.g., "I think euthanasia is an acceptable/unacceptable…"). Furthermore, strong disagreement rapidly influences the ongoing analysis of meaning, which indicates that even very early processes in language comprehension are sensitive to a person's value system. Our results testify to rapid reciprocal links between neural systems for language and for valuation.

Abstract

In this article we investigate how speakers manage discourse expectations in dialogue by comparing the meaning and use of three Dutch discourse particles, i.e. wel, toch and eigenlijk, which all express a contrast between their host utterance and a discourse-based expectation. The core meanings of toch, wel and eigenlijk are formally distinguished on the basis of two intersubjective parameters: (i) whether the particle marks alignment or misalignment between speaker and addressee discourse beliefs, and (ii) whether the particle requires an assessment of the addressee’s representation of mutual discourse beliefs. By means of a quantitative corpus study, we investigate to what extent the intersubjective meaning distinctions between wel, toch and eigenlijk are reflected in statistical usage patterns across different social situations. Results suggest that wel, toch and eigenlijk are lexicalizations of distinct generalized politeness strategies when expressing contrast in social interaction. Our findings call for an interdisciplinary approach to discourse particles in order to enhance our understanding of their functions in language.

Abstract

Controlling aggression is a crucial skill in social species like rodents and humans and has been associated with anterior cingulate cortex (ACC). Here, we directly link the failed regulation of aggression in BALB/cJ mice to ACC hypofunction. We first show that ACC in BALB/cJ mice is structurally degraded: neuron density is decreased, with pervasive neuron death and reactive astroglia. Gene-set enrichment analysis suggested that this process is driven by neuronal degeneration, which then triggers toxic astrogliosis. cFos expression across ACC indicated functional consequences: during aggressive encounters, ACC was engaged in control mice, but not BALB/cJ mice. Chemogenetically activating ACC during aggressive encounters drastically suppressed pathological aggression but left species-typical aggression intact. The network effects of our chemogenetic perturbation suggest that this behavioral rescue is mediated by suppression of amygdala and hypothalamus and activation of mediodorsal thalamus. Together, these findings highlight the central role of ACC in curbing pathological aggression.

Abstract

The language system uses syntactic, semantic, as well as prosodic cues to efficiently guide auditory sentence comprehension. Prosodic cues, such as pitch accents, can build expectations about upcoming sentence elements. This study investigates to what extent syntactic and semantic expectations generated by pitch accents can be dissociated and if so, which cues take precedence when contradictory information is present. We used sentences in which one out of two nominal constituents was placed in contrastive focus with a third one. All noun phrases carried overt syntactic information (case-marking of the determiner) and semantic information (typicality of the thematic role of the noun). Two experiments (a sentence comprehension and a sentence completion task) show that focus, marked by pitch accents, established expectations in both syntactic and semantic domains. However, only the syntactic expectations, when violated, were strong enough to interfere with sentence comprehension. Furthermore, when contradictory cues occurred in the same sentence, the local syntactic cue (case-marking) took precedence over the semantic cue (thematic role), and overwrote previous information cued by prosody. The findings indicate that during auditory sentence comprehension the processing system integrates different sources of information for argument role assignment, yet primarily relies on syntactic information.

Abstract

Written language, a human cultural invention, is far too recent for dedicated neural
infrastructure to have evolved in its service. Culturally newly acquired skills (e.g. reading) thus ‘recycle’ evolutionarily older circuits that originally evolved for different, but similar functions (e.g. visual object recognition). The destructive competition hypothesis predicts that this neuronal recycling has detrimental behavioral effects on the cognitive functions a cortical network originally evolved for. In a study with 97 literate, low-literate, and illiterate participants from the same socioeconomic background we find that even after adjusting for cognitive ability and test-taking familiarity, learning to read is associated with an increase, rather than a decrease, in object recognition abilities. These results are incompatible with the claim that neuronal recycling results in destructive competition and consistent with the possibility that learning to read instead fine-tunes general object recognition mechanisms, a hypothesis that needs further neuroscientific investigation.

Abstract

In normal conversation, speakers translate thoughts into words at high speed. To enable this speed, the retrieval of distinct types of linguistic knowledge has to be orchestrated with millisecond precision. The nature of this orchestration is still largely unknown. This report presents dynamic measures of the real-time activation of two basic types of linguistic knowledge, syntax and phonology. Electrophysiological data demonstrate that during noun-phrase production speakers retrieve the syntactic gender of a noun before its abstract phonological properties. This two-step process operates at high speed: the data show that phonological information is already available 40 milliseconds after syntactic properties have been retrieved.

Abstract

Learning new vocabulary from context typically requires multiple encounters during which word meaning can be retrieved from memory or inferred from context. We compared the effect of memory retrieval and context inferences on short‐ and long‐term retention in three experiments. Participants studied novel words and then practiced the words either in an uninformative context that required the retrieval of word meaning from memory (“I need the funguo”) or in an informative context from which word meaning could be inferred (“I want to unlock the door: I need the funguo”). The informative context facilitated word comprehension during practice. However, later recall of word form and meaning and word recognition in a new context were better after successful retrieval practice and retrieval practice with feedback than after context‐inference practice. These findings suggest benefits of retrieval during contextualized vocabulary learning whereby the uninformative context enhanced word retention by triggering memory retrieval.

Abstract

An essential phenomenon in the development towards syntactic maturity after early childhood is the increasing use of so-called sentence-combining transformations. Especially by using subordination, complex sentences are produced. The research reported here is an attempt to arrive at a more adequate characterization and explanation. Our starting point was an analysis of 280 texts written by Dutch-speaking pupils of the two highest grades of the primary school and the four lowest grades of three different types of secondary education. It was examined whether systematic shifts in the use of certain groups of so-called function words could be traced. We concluded that the development of the syntactic formulating ability can be characterized as an increase in connectivity: the use of all kinds of function words which explicitly mark logico-semantic relations between propositions. This development starts by inserting special adverbs and coordinating conjunctions resulting in various types of coordination. In a later stage, the syntactic patterning of the sentence is affected as well (various types of subordination). The increase in sentence complexity is only one aspect of the entire development. An explanation for the increase in connectivity is offered based upon a distinction between narrative and expository language use. The latter, but not the former, is characterized by frequent occurrence of connectives. The development in syntactic formulating ability includes a high level of skill in expository language use. Speed of development is determined by intensity of training, e.g. in scholastic and occupational settings.

Abstract

An introductory study of the perception of stochastically specified events is reported. The initial problem was to determine whether the perceiver can split visual input data of this kind into random and determined components. The inability of subjects to do so with the stimulus material used (a filmlike sequence of dot patterns), led to the more general question of how subjects code this kind of visual material. To meet the difficulty of defining the subjects' responses, two experiments were designed. In both, patterns were presented as a rapid sequence of dots on a screen. The patterns were more or less disturbed by “noise,” i.e. the dots did not appear exactly at their proper places. In the first experiment the response was a rating on a semantic scale, in the second an identification from among a set of alternative patterns. The results of these experiments give some insight in the coding systems adopted by the subjects. First, noise appears to be detrimental to pattern recognition, especially to patterns with little spread. Second, this shows connections with the factors obtained from analysis of the semantic ratings, e.g. easily disturbed patterns show a large drop in the semantic regularity factor, when only a little noise is added.

Abstract

The social behavior of chimpanzees has been extensively studied, yet not much is known about how they behave in response to the death of a group member. Here, we provide a detailed report of the reactions of a group of chimpanzees to finding the dead body of a 9-year-old male group member. The behavior of the group was characterized by quiet attendance and close inspections punctuated by rare displays. Moreover, the body was continuously attended and closely inspected by several adults and juveniles, including an adult male who formed a close social bond with the deceased individual after the deceased individual’s mother died 4 years earlier. When considered with observations of how chimpanzees respond to dead infants and adults in this group and in others, these observations suggest that chimpanzees’ responses to death may be mediated by social bonds with the deceased individual. The results are discussed in light of recent reports on chimpanzees’ reactions to dead community members and more general primate thanatology.

Abstract

Computer simulations in an instructional context can be characterized according to four aspects (themes): simulation models, learning goals, learning processes and learner activity. The present paper provides an outline of these four themes. The main classification criterion for simulation models is quantitative vs. qualitative models. For quantitative models a further subdivision can be made by classifying the independent and dependent variables as continuous or discrete. A second criterion is whether one of the independent variables is time, thus distinguishing dynamic and static models. Qualitative models on the other hand use propositions about non-quantitative properties of a system or they describe quantitative aspects in a qualitative way. Related to the underlying model is the interaction with it. When this interaction has a normative counterpart in the real world we call it a procedure. The second theme of learning with computer simulation concerns learning goals. A learning goal is principally classified along three dimensions, which specify different aspects of the knowledge involved. The first dimension, knowledge category, indicates that a learning goal can address principles, concepts and/or facts (conceptual knowledge) or procedures (performance sequences). The second dimension, knowledge representation, captures the fact that knowledge can be represented in a more declarative (articulate, explicit), or in a more compiled (implicit) format, each one having its own advantages and drawbacks. The third dimension, knowledge scope, involves the learning goal's relation with the simulation domain; knowledge can be specific to a particular domain, or generalizable over classes of domains (generic). A more or less separate type of learning goal refers to knowledge acquisition skills that are pertinent to learning in an exploratory environment. Learning processes constitute the third theme. Learning processes are defined as cognitive actions of the learner. Learning processes can be classified using a multilevel scheme. The first (highest) of these levels gives four main categories: orientation, hypothesis generation, testing and evaluation. Examples of more specific processes are model exploration and output interpretation. The fourth theme of learning with computer simulations is learner activity. Learner activity is defined as the ‘physical’ interaction of the learner with the simulations (as opposed to the mental interaction that was described in the learning processes). Five main categories of learner activity are distinguished: defining experimental settings (variables, parameters etc.), interaction process choices (deciding a next step), collecting data, choice of data presentation and metacontrol over the simulation.

Abstract

Heterozygous mutations of the Forkhead-box protein 2 (FOXP2) gene in humans cause childhood apraxia of speech. Loss of Foxp2 in mice is known to affect striatal development and impair motor skills. However, it is unknown if striatal excitatory/inhibitory balance is affected during development and if the imbalance persists into adulthood. We investigated the effect of reduced Foxp2 expression, via a loss-of-function mutation, on striatal medium spiny neurons (MSNs). Our data show that heterozygous loss of Foxp2 decreases excitatory (AMPA receptor-mediated) and increases inhibitory (GABA receptor-mediated) currents in D1 dopamine receptor positive MSNs of juvenile and adult mice. Furthermore, reduced Foxp2 expression increases GAD67 expression, leading to both increased presynaptic content and release of GABA. Finally, pharmacological blockade of inhibitory activity in vivo partially rescues motor skill learning deficits in heterozygous Foxp2 mice. Our results suggest a novel role for Foxp2 in the regulation of striatal direct pathway activity through managing inhibitory drive.

Abstract

Style is an important aspect of literature, and stylistic deviations are sometimes labeled foregrounded, since their manner of expression deviates from the stylistic default. Russian Formalists have claimed that foregrounding increases processing demands and therefore causes slower reading – an effect called retardation. We tested this claim experimentally by having participants read short literary stories while measuring their eye movements. Our results confirm that readers indeed read slower and make more regressions towards foregrounded passages as compared to passages that are not foregrounded. A closer look, however, reveals significant individual differences in sensitivity to foregrounding. Some readers in fact do not slow down at all when reading foregrounded passages. The slowing down effect for literariness was related to a slowing down effect for high perplexity (unexpected) words: those readers who slowed down more during literary passages also slowed down more during high perplexity words, even though no correlation between literariness and perplexity existed in the stories. We conclude that individual differences play a major role in processing of literary texts and argue for accounts of literary reading that focus on the interplay between reader and text.

Abstract

The use of computer simulations in education and training can have substantial advantages over other approaches. In comparison with alternatives such as textbooks, lectures, and tutorial courseware, a simulation-based approach offers the opportunity to learn in a relatively realistic problem-solving context, to practise task performance without stress, to systematically explore both realistic and hypothetical situations, to change the time-scale of events, and to interact with simplified versions of the process or system being simulated. However, learners are often unable to cope with the freedom offered by, and the complexity of, a simulation. As a result many of them resort to an unsystematic, unproductive mode of exploration. There is evidence that simulation-based learning can be improved if the learner is supported while working with the simulation. Constructing such an instructional environment around simulations seems to run counter to the freedom the learner is allowed to in ‘stand alone’ simulations. The present article explores instructional measures that allow for an optimal freedom for the learner. An extensive discussion of learning goals brings two main types of learning goals to the fore: conceptual knowledge and operational knowledge. A third type of learning goal refers to the knowledge acquisition (exploratory learning) process. Cognitive theory has implications for the design of instructional environments around simulations. Most of these implications are quite general, but they can also be related to the three types of learning goals. For conceptual knowledge the sequence and choice of models and problems is important, as is providing the learner with explanations and minimization of error. For operational knowledge cognitive theory recommends learning to take place in a problem solving context, the explicit tracing of the behaviour of the learner, providing immediate feedback and minimization of working memory load. For knowledge acquisition goals, it is recommended that the tutor takes the role of a model and coach, and that learning takes place together with a companion. A second source of inspiration for designing instructional environments can be found in Instructional Design Theories. Reviewing these shows that interacting with a simulation can be a part of a more comprehensive instructional strategy, in which for example also prerequisite knowledge is taught. Moreover, information present in a simulation can also be represented in a more structural or static way and these two forms of presentation provoked to perform specific learning processes and learner activities by tutor controlled variations in the simulation, and by tutor initiated prodding techniques. And finally, instructional design theories showed that complex models and procedures can be taught by starting with central and simple elements of these models and procedures and subsequently presenting more complex models and procedures. Most of the recent simulation-based intelligent tutoring systems involve troubleshooting of complex technical systems. Learners are supposed to acquire knowledge of particular system principles, of troubleshooting procedures, or of both. Commonly encountered instructional features include (a) the sequencing of increasingly complex problems to be solved, (b) the availability of a range of help information on request, (c) the presence of an expert troubleshooting module which can step in to provide criticism on learner performance, hints on the problem nature, or suggestions on how to proceed, (d) the option of having the expert module demonstrate optimal performance afterwards, and (e) the use of different ways of depicting the simulated system. A selection of findings is summarized by placing them under the four themes we think to be characteristic of learning with computer simulations (see de Jong, this volume).

Abstract

Extraversion is a relatively stable and heritable personality trait associated with numerous psychosocial, lifestyle and health outcomes. Despite its substantial heritability, no genetic variants have been detected in previous genome-wide association (GWA) studies, which may be due to relatively small sample sizes of those studies. Here, we report on a large meta-analysis of GWA studies for extraversion in 63,030 subjects in 29 cohorts. Extraversion item data from multiple personality inventories were harmonized across inventories and cohorts. No genome-wide significant associations were found at the single nucleotide polymorphism (SNP) level but there was one significant hit at the gene level for a long non-coding RNA site (LOC101928162). Genome-wide complex trait analysis in two large cohorts showed that the additive variance explained by common SNPs was not significantly different from zero, but polygenic risk scores, weighted using linkage information, significantly predicted extraversion scores in an independent cohort. These results show that extraversion is a highly polygenic personality trait, with an architecture possibly different from other complex human traits, including other personality traits. Future studies are required to further determine which genetic variants, by what modes of gene action, constitute the heritable nature of extraversion. © 2015 The Author(s)

Abstract

Interpersonal discourse particles (DPs), such as Dutch inderdaad (≈‘indeed’) and eigenlijk (≈‘actually’) are highly frequent in everyday conversational interaction. Despite extensive theoretical descriptions of their polyfunctionality, little is known about how they are used by language comprehenders. In two visual world eye-tracking experiments involving an online dialogue completion task, we asked to what extent inderdaad, confirming an inferred expectation, and eigenlijk, contrasting with an inferred expectation, influence real-time understanding of dialogues. Answers in the dialogues contained a DP or a control adverb, and a critical discourse referent was replaced by a beep; participants chose the most likely dialogue completion by clicking on one of four referents in a display. Results show that listeners make rapid and fine-grained situation-specific inferences about the use of DPs, modulating their expectations about how the dialogue will unfold. Findings further specify and constrain theories about the conversation-managing function and polyfunctionality of DPs.

Abstract

Memory retrieval is an active process that can alter the content and accessibility of stored memories. Of potential relevance for educational practice are findings that memory retrieval fosters better retention than mere studying. This so-called testing effect has been demonstrated for different materials and populations, but there is limited consensus on the neurocognitive mechanisms involved. In this review, we relate cognitive accounts of the testing effect to findings from recent brain-imaging studies to identify neurocognitive factors that could explain the testing effect. Results indicate that testing facilitates later performance through several processes, including effects on semantic memory representations, the selective strengthening of relevant associations and inhibition of irrelevant associations, as well as potentiation of subsequent learning

Abstract

Memory retrieval is an active process that can alter the content and accessibility of stored memories. Of potential relevance for educational practice are findings that memory retrieval fosters better retention than mere studying. This so-called testing effect has been demonstrated for different materials and populations, but there is limited consensus on the neurocognitive mechanisms involved. In this review, we relate cognitive accounts of the testing effect to findings from recent brain-imaging studies to identify neurocognitive factors that could explain the testing effect. Results indicate that testing facilitates later performance through several processes, including effects on semantic memory representations, the selective strengthening of relevant associations and inhibition of irrelevant associations, as well as potentiation of subsequent learning.

Abstract

Addition problems can be solved by mentally manipulating quantities for which the bilateral intraparietal sulcus (IPS) is likely recruited, or by retrieving the answer directly from fact memory in which the left angular gyrus (AG) and perisylvian areas may play a role. Mental addition is usually studied with problems presented in the Arabic notation (4+2), and less so with number words (four+two) or dots (:: +·.). In the present study, we investigated how the notation of numbers influences processing during simple mental arithmetic. Twenty-five highly educated participants performed simple arithmetic while their brain activity was recorded with functional magnetic resonance imaging. To reveal the effect of number notation, arithmetic problems were presented in a non-symbolic (Dots) or symbolic (Arabic; Words) notation. Furthermore, we asked whether IPS processing during mental arithmetic is magnitude specific or of a more general, visuospatial nature. To this end, we included perception and manipulation of non-magnitude formats (Colors; unfamiliar Japanese Characters). Increased IPS activity was observed, suggesting magnitude calculations during addition of non-symbolic numbers. In contrast, there was greater activity in the AG and perisylvian areas for symbolic compared to non-symbolic addition, suggesting increased verbal fact retrieval. Furthermore, IPS activity was not specific to processing of numerical magnitude but also present for non-magnitude stimuli that required mental visuospatial processing (Color-mixing; Character-memory measured by a delayed match-to-sample task). Together, our data suggest that simple non-symbolic sums are calculated using visual imagery, whereas answers for simple symbolic sums are retrieved from verbal memory.

Abstract

Numerous studies demonstrate people associate colors with letters and numbers in systematic ways. But most of these studies rely on speakers of English, or closely related languages. This makes it difficult to know how generalizable these findings are, or what factors might underlie these associations. We investigated letter–color and number–color associations in Arabic speakers, who have a different writing system and unusual word structure compared to Standard Average European languages. We also aimed to identify grapheme–color synaesthetes (people who have conscious color experiences with letters and numbers). Participants associated colors with 28 basic Arabic letters and ten digits by typing color names that best fit each grapheme. We found language-specific principles determining grapheme–color associations. For example, the word formation process in Arabic was relevant for color associations. In addition, psycholinguistic variables, such as letter frequency and the intrinsic order of graphemes influenced associations. Contrary to previous studies we found no evidence for sounds playing a role in letter–color associations for Arabic, and only a very limited role for shape influencing color associations. These findings highlight the importance of linguistic and psycholinguistic features in cross-modal correspondences, and illustrate why it is important to play close attention to each language on its own terms in order to disentangle language-specific from universal effects

Abstract

Previous research has established that gesture observation aids learning in children. The current study examinedwhether observation of gestures (i.e. depictive and tracing gestures) differentially affected verbal and visual–spatial retention whenlearning a route and its street names. Specifically, we explored whether children (n = 97) with lower visual and verbal working-memory capacity benefited more from observing gestures as compared with children who score higher on these traits. To thisend, 11- to 13-year-old children were presented with an instructional video of a route containing no gestures, depictive gestures,tracing gestures or both depictive and tracing gestures. Results indicated that the type of observed gesture affected performance:Observing tracing gestures or both tracing and depictive gestures increased performance on route retention, while observingdepictive gestures or both depictive and tracing gestures increased performance on street name retention. These effects werenot differentially affected by working-memory capacity

Abstract

In the recent literature, the effects of noninvasive neurostimulation on cognitive functioning appear to lack consistency and replicability. We propose that such effects may be concealed unless dedicated, sensitive, and process-specific dependent measures are used. The expression and subsequent suppression of response capture are often studied using conflict tasks. Response-time distribution analyses have been argued to provide specific measures of the susceptibility to make fast impulsive response errors, as well as the proficiency of the selective suppression of these impulses. These measures of response capture and response inhibition are particularly sensitive to experimental manipulations and clinical deficiencies that are typically obfuscated in commonly used overall performance analyses. Recent work using structural and functional imaging techniques links these behavioral outcome measures to the integrity of frontostriatal networks. These studies suggest that the presupplementary motor area (pre-SMA) is linked to the susceptibility to response capture whereas the right inferior frontal cortex (rIFC) is associated with the selective suppression of action impulses. Here, we used repetitive transcranial magnetic stimulation (rTMS) to test the causal involvement of these two cortical areas in response capture and inhibition in the Simon task. Disruption of rIFC function specifically impaired selective suppression of conflicting action tendencies, whereas the anticipated increase of fast impulsive errors after perturbing pre-SMA function was not confirmed. These results provide a proof of principle of the notion that the selection of appropriate dependent measures is perhaps crucial to establish the effects of neurostimulation on specific cognitive functions.

Abstract

As a preliminary to further research on musical consonance an explanatory investigation was made on the different modes of judgment of musical intervals. This was done by way of a semantic differential. Subjects rated 23 intervals against 10 scales. In a factor analysis three factors appeared: pitch, evaluation and fusion. The relation between these factors and some physical characteristics has been investigated. The scale consonant-dissonant showed to be purely evaluative (in opposition to Stumpf's theory). This evaluative connotation is not in accordance with the musicological meaning of consonance. Suggestions to account for this difference have been given.

Abstract

Social information use is a pivotal characteristic of the human species. Avoiding the cost of individual exploration, social learning confers substantial fitness benefits under a wide variety of environmental conditions, especially when the process is governed by biases toward relative superiority (e.g., experts, the majority). Here, we examine the development of social information use in children aged 4–14 years (n = 605) across seven societies in a standardised social learning task. We measured two key aspects of social information use: general reliance on social information and majority preference. We show that the extent to which children rely on social information depends on children’s cultural background. The extent of children’s majority preference also varies cross-culturally, but in contrast to social information use, the ontogeny of majority preference follows a U-shaped trajectory across all societies. Our results demonstrate both cultural continuity and diversity in the realm of human social learning.

Abstract

Autism Spectrum Disorder (ASD) is often associated with impaired perspective-taking skills. Deception is an important indicator of perspective-taking, and therefore may be thought to pose difficulties to people with ASD (e.g., Baron-Cohen in J Child Psychol Psychiatry 3:1141–1155, 1992). To test this hypothesis, we asked participants with and without ASD to play a computerised deception game. We found that participants with ASD were equally likely—and in complex cases of deception even more likely—to deceive and detect deception, and learned deception at a faster rate. However, participants with ASD initially deceived less frequently, and were slower at detecting deception. These results suggest that people with ASD readily engage in deception but may do so through conscious and effortful reasoning about other people’s perspectiv

Abstract

This paper introduces a novel collection of word embeddings, numerical representations of lexical semantics, in 55 languages, trained on a large corpus of pseudo-conversational speech transcriptions from television shows and movies. The embeddings were trained on the OpenSubtitles corpus using the fastText implementation of the skipgram algorithm. Performance comparable with (and in some cases exceeding) embeddings trained on non-conversational (Wikipedia) text is reported on standard benchmark evaluation datasets. A novel evaluation method of particular relevance to psycholinguists is also introduced: prediction of experimental lexical norms in multiple languages. The models, as well as code for reproducing the models and all analyses reported in this paper (implemented as a user-friendly Python package), are freely available at: https://github.com/jvparidon/subs2vec.

Abstract

Meermalen is getracht om syntactische formuleenuuirdigheid direct en objectief te meten aan de hand van gesproken of geschreven teksten. Uitgangspunt hierbij vormde in de regel de syntactische complexiteit van de geproduceerde taaluitingen. Dit heeft echter niet geleid tot een plausibele, duidelijk omschreven en praktisch bruikbare index. N.a.v. een kritische bespreking van de notie complexiteit wordt in dit artikel als nieuw criterium voorgesteld de connectiviteit van de taaluitingen; de expliciete aanduiding van logiscli-scmantische relaties tussen proposities. Connectiviteit is gemakkelijk scoorbaar aan de hand van functiewoorden die verschillende vormen van nevenschikkend en onderschikkend zinsverband markeren. Deze nieuwe index ondetrangt de kritiek die op complexiteit gegeven kon worden, blijkt duidelijk te discrimineren tussen groepen leerlingen die van elkaar verschillen naar leeftijd en opleidingsniveau, en sluit aan bij recente taalpsychologische en sociolinguïstische theorie. Tot besluit worden enige onderwijskundige implicaties aangegeven.

Abstract

We ervaren de wereld met onze zintuigen: we zien, horen, voelen, proeven en ruiken. Deze ervaringen kunnen we met elkaar delen door middel van taal. Maar hoe doen we dat eigenlijk? Kunnen we alle zintuiglijke ervaringen even makkelijk verwoorden? En kunnen sprekers van verschillende talen allemaal hetzelfde uitdrukken? In dit artikel gaan de auteurs in op deze vragen en geven ze suggesties om in de klas met deze taal van de zintuigen aan de slag te gaan. Het is een voorbeeld van onderzoekend leren op de grens van taalonderwijs en wereldorientatie.

Abstract

Reactive and proactive subtypes of aggression have been recognized to help parse etiological heterogeneity of this complex phenotype. With a heritability of about 50%, genetic factors play a role in the development of aggressive behavior. Imaging studies implicate brain structures related to social behavior in aggression etiology, most notably the amygdala and striatum. This study aimed to gain more insight into the pathways from genetic risk factors for aggression to aggression phenotypes. To this end, we conducted genome-wide gene-based cross-trait meta-analyses of aggression with the volumes of amygdala, nucleus accumbens and caudate nucleus to identify genes influencing both aggression and aggression-related brain volumes. We used data of large-scale genome-wide association studies (GWAS) of: (a) aggressive behavior in children and adolescents (EAGLE, N = 18,988); and (b) Magnetic Resonance Imaging (MRI)-based volume measures of aggression-relevant subcortical brain regions (ENIGMA2, N = 13,171). Second, the identified genes were further investigated in a sample of healthy adults (mean age (SD) = 25.28 (4.62) years; 43% male) who had genome-wide genotyping data and questionnaire data on aggression subtypes available (Brain Imaging Genetics, BIG, N = 501) to study their effect on reactive and proactive subtypes of aggression. Our meta-analysis identified two genes, MECOM and AVPR1A, significantly associated with both aggression risk and nucleus accumbens (MECOM) and amygdala (AVPR1A) brain volume. Subsequent in-depth analysis of these genes in healthy adults (BIG), including sex as an interaction term in the model, revealed no significant subtype-specific gene-wide associations. Using cross-trait meta-analysis of brain measures and psychiatric phenotypes, this study generated new hypotheses about specific links between genes, the brain and behavior. Results indicate that MECOM and AVPR1A may exert an effect on aggression through mechanisms involving nucleus accumbens and amygdala volumes, respectively.

Abstract

Understanding intraspecific variation in sociality is essential for characterizing the flexibility and evolution of social systems, yet its study in nonhuman animals is rare. Here, we investigated whether chimpanzees exhibit population-level differences in sociality that cannot be easily explained by differences in genetics or ecology. We compared social proximity and grooming tendencies across four semiwild populations of chimpanzees living in the same ecological environment over three consecutive years, using both linear mixed models and social network analysis. Results indicated temporally stable, population-level differences in dyadic-level sociality. Moreover, group cohesion measures capturing network characteristics beyond dyadic interactions (clustering, modularity, and social differentiation) showed population-level differences consistent with the dyadic indices. Subsequently, we explored whether the observed intraspecific variation in sociality could be attributed to cultural processes by ruling out alternative sources of variation including the influences of ecology, genetics, and differences in population demographics. We conclude that substantial variation in social behavior exists across neighboring populations of chimpanzees and that this variation is in part shaped by cultural processes.

Abstract

Mixed languages are said to be the result of a process of intertwining (e.g. Bakker & Muysken 1995, Bakker 1997), a regular process in which the grammar of one language is combined with the lexicon of another. However, the outcome of this process differs from language pair to language pair. As far as morphosyntax is concerned, people have discussed these different outcomes and the reasons for them extensively, e.g. Bakker 1997 for Michif, Mous 2003 for Ma’a, Muysken 1997a for Media Lengua and 1997b for Callahuaya. The issue of phonology, however, has not generated a large debate. This paper compares the phonological systems of the mixed languages Media Lengua, Callahuaya, Mednyj Aleut, and Michif. It will be argued that the outcome of the process of intertwining, as far as phonology is concerned, is at least partly determined by the extent to which unmixed phonological domains exist.

Abstract

In natural conversations, words are generally shorter and they often lack segments. It is unclear to what extent such durational and segmental reductions affect word recognition. The present study investigates to what extent reduction in the initial syllable hinders word comprehension, which types of segments listeners mostly rely on, and whether listeners use word duration as a cue in word recognition. We conducted three experiments in Dutch, in which we adapted the gating paradigm to study the comprehension of spontaneously uttered conversational speech by aligning the gates with the edges of consonant clusters or vowels. Participants heard the context and some segmental and/or durational information from reduced target words with unstressed initial syllables. The initial syllable varied in its degree of reduction, and in half of the stimuli the vowel was not clearly present. Participants gave too short answers if they were only provided with durational information from the target words, which shows that listeners are unaware of the reductions that can occur in spontaneous speech. More importantly, listeners required fewer segments to recognize target words if the vowel in the initial syllable was absent. This result strongly suggests that this vowel hardly plays a role in word comprehension, and that its presence may even delay this process. More important are the consonants and the stressed vowel.

Abstract

Insight in the developmental trajectory of the neuroanatomical reading correlates is important to understand related cognitive processes and disorders. In adults, a dual pathway model has been suggested encompassing a dorsal phonological and a ventral orthographic white matter system. This dichotomy seems not present in pre-readers, and the specific role of ventral white matter in reading remains unclear. Therefore, the present longitudinal study investigated the relation between ventral white matter and cognitive processes underlying reading in children with a broad range of reading skills (n = 61). Ventral pathways of the reading network were manually traced using diffusion tractography: the inferior fronto-occipital fasciculus (IFOF), inferior longitudinal fasciculus (ILF) and uncinate fasciculus (UF). Pathways were examined pre-reading (5–6 years) and after two years of reading acquisition (7–8 years). Dimension reduction for the cognitive measures resulted in one component for pre-reading cognitive measures and a separate phonological and orthographic component for the early reading measures. Regression analyses revealed a relation between the pre-reading cognitive component and bilateral IFOF and left ILF. Interestingly, exclusively the left IFOF was related to the orthographic component, whereas none of the pathways was related to the phonological component. Hence, the left IFOF seems to serve as the lexical reading route, already in the earliest reading stages.

Abstract

Learning often occurs in communicative and collaborative settings, yet almost all research into the neural basis of memory relies on participants encoding and retrieving information on their own. We investigated whether learning linguistic labels in a collaborative context at least partly relies on cognitively and neurally distinct representations, as compared to learning in an individual context. Healthy human participants learned labels for sets of abstract shapes in three different tasks. They came up with labels with another person in a collaborative communication task (collaborative condition), by themselves (individual condition), or were given pre-determined unrelated labels to learn by themselves (arbitrary condition). Immediately after learning, participants retrieved and produced the labels aloud during a communicative task in the MRI scanner. The fMRI results show that the retrieval of collaboratively generated labels as compared to individually learned labels engages brain regions involved in understanding others (mentalizing or theory of mind) and autobiographical memory, including the medial prefrontal cortex, the right temporoparietal junction and the precuneus. This study is the first to show that collaboration during encoding affects the neural networks involved in retrieval.

Abstract

In order to communicate successfully, speakers have to take into account which information they share with their addressee, i.e. common ground. In the current experiment we investigated how and when common ground affects speech planning by tracking speakers’ eye movements while they played a referential communication game. We found evidence that common ground exerts an early, but incomplete effect on speech planning. In addition, we did not find longer planning times when speakers had to take common ground into account, suggesting that taking common ground into account is not necessarily an effortful process. Common ground information thus appears to act as a partial constraint on language production that is integrated flexibly and efficiently in the speech planning process.

Abstract

This study develops a single elicitation method to test the acquisition of third-person pronominal objects in 5-year-olds for 16 languages. This methodology allows us to compare the acquisition of pronominals in languages that lack object clitics (“pronoun languages”) with languages that employ clitics in the relevant context (“clitic languages”), thus establishing a robust cross-linguistic baseline in the domain of clitic and pronoun production for 5-year-olds. High rates of pronominal production are found in our results, indicating that children have the relevant pragmatic knowledge required to select a pronominal in the discourse setting involved in the experiment as well as the relevant morphosyntactic knowledge involved in the production of pronominals. It is legitimate to conclude from our data that a child who at age 5 is not able to produce any or few pronominals is a child at risk for language impairment. In this way, pronominal production can be taken as a developmental marker, provided that one takes into account certain cross-linguistic differences discussed in the article.

Abstract

During a post-encoding delay period, the ongoing consolidation of recently acquired memories can suffer interference if the delay period involves encoding of new memories, or sensory stimulation tasks. Interestingly, two recent independent studies suggest that (i) autobiographical thinking also interferes markedly with ongoing consolidation of recently learned wordlist material, while (ii) a 2-Back task might not interfere with ongoing consolidation, possibly due to the suppression of autobiographical thinking. In this study, we directly compare these conditions against a quiet wakeful rest baseline to test whether the promotion (via familiar sound-cues) or suppression (via a 2-Back task) of autobiographical thinking during the post-encoding delay period can affect consolidation of studied wordlists in a negative or a positive way, respectively. Our results successfully replicate previous studies and show a significant interference effect (as compared to the rest condition) when learning is followed by familiar sound-cues that promote autobiographical thinking, whereas no interference effect is observed when learning is followed by the 2-Back task. Results from a post-experimental experience-sampling questionnaire further show significant differences in the degree of autobiographical thinking reported during the three post-encoding periods: highest in the presence of sound-cues and lowest during the 2-Back task. In conclusion, our results suggest that varying levels of autobiographical thought during the post-encoding period may modulate episodic memory consolidation.

Abstract

* - indicates joint first authorship -
The ability to discriminate between familiar and unfamiliar calls may play a key role in pinnipeds’ communication and survival, as in the case of mother-pup interactions. Vocal discrimination abilities have been suggested to be more developed in pinniped species with the highest selective pressure such as the otariids; yet, in some group-living phocids, such as harbor seals (Phoca vitulina), mothers are also able to recognize their pup’s voice. Conspecifics’ vocal recognition in pups has never been investigated; however, the repeated interaction occurring between pups within the breeding season suggests that long-term vocal discrimination may occur. Here we explored this hypothesis by presenting three rehabilitated seal pups with playbacks of vocalizations from unfamiliar or familiar pups. It is uncommon for seals to come into rehabilitation for a second time in their lifespan, and this study took advantage of these rare cases. A simple visual inspection of the data plots seemed to show more reactions, and of longer duration, in response to familiar as compared to unfamiliar playbacks in two out of three pups. However, statistical analyses revealed no significant difference between the experimental conditions. We also found no significant asymmetry in orientation (left vs. right) towards familiar and unfamiliar sounds. While statistics do not support the hypothesis of an established ability to discriminate familiar vocalizations from unfamiliar ones in harbor seal pups, further investigations with a larger sample size are needed to confirm or refute this hypothesis.

Abstract

Despite considerable research interest, it is still an open issue as to how morphologically complex words such as “car+s” are represented and processed in the brain. We studied the neural correlates of the processing of inflected nouns in the morphologically rich Finnish language. Previous behavioral studies in Finnish have yielded a robust inflectional processing cost, i.e., inflected words are harder to recognize than otherwise matched morphologically simple words. Theoretically this effect could stem either from decomposition of inflected words into a stem and a suffix at input level and/or from subsequent recombination at the semantic–syntactic level to arrive at an interpretation of the word. To shed light on this issue, we used magnetoencephalography to reveal the time course and localization of neural effects of morphological structure and frequency of written words. Ten subjects silently read high- and low-frequency Finnish words in inflected and monomorphemic form. Morphological complexity was accompanied by stronger and longerlasting activation of the left superior temporal cortex from 200 ms onwards. Earlier effects of morphology were not found, supporting the view that the well-established behavioral processing cost for inflected words stems from the semantic–syntactic level rather than from early decomposition. Since the effect of morphology was detected throughout the range of word frequencies employed, the majority of inflected Finnish words appears to be represented in decomposed form and only very high-frequency inflected words may acquire full-form representations.

Abstract

In two ERP experiments, we investigated whether readers prioritize animacy over real-world event-knowledge during sentence comprehension. We used the paradigm of Paczynski and Kuperberg (2012), who argued that animacy is prioritized based on the observations that the ‘related anomaly effect’ (reduced N400s for context-related anomalous words compared to unrelated words) does not occur for animacy violations, and that animacy violations but not relatedness violations elicit P600 effects. Participants read passive sentences with plausible agents (e.g., The prescription for the mental disorder was written by the psychiatrist) or implausible agents that varied in animacy and semantic relatedness (schizophrenic/guard/pill/fence). In Experiment 1 (with a plausibility judgment task), plausible sentences elicited smaller N400s relative to all types of implausible sentences. Crucially, animate words elicited smaller N400s than inanimate words, and related words elicited smaller N400s than unrelated words, but Bayesian analysis revealed substantial evidence against an interaction between animacy and relatedness. Moreover, at the P600 time-window, we observed more positive ERPs for animate than inanimate words and for related than unrelated words at anterior regions. In Experiment 2 (without judgment task), we observed an N400 effect with animacy violations, but no other effects. Taken together, the results of our experiments fail to support a prioritized role of animacy information over real-world event-knowledge, but they support an interactive, constraint-based view on incremental semantic processing.

Abstract

We investigated the “proximate unit” in Korean, that is, the initial phonological unit selected in speech production by Korean speakers. Previous studies have shown mixed evidence indicating either a phoneme-sized or a syllable-sized unit. We conducted two experiments in which participants named pictures while ignoring superimposed non-words. In English, for this task, when the picture (e.g., dog) and distractor phonology (e.g., dark) initially overlap, typically the picture target is named faster. We used a range of conditions (in Korean) varying from onset overlap to syllabic overlap, and the results indicated an important role for the syllable, but not the phoneme. We suggest that the basic unit used in phonological encoding in Korean is different from Germanic languages such as English and Dutch and also from Japanese and possibly also Chinese. Models dealing with the architecture of language production can use these results when providing a framework suitable for all languages in the world, including Korean.

Abstract

In English, Dutch, and other European languages, it is well established that the fundamental phonological unit in word production is the phoneme; in contrast, recent studies have shown that in Chinese it is the (atonal) syllable and in Japanese the mora. The present study investigated whether this cross-language variation in the size of the unit of word production is due to the type of script used in the language (i.e., alphabetic, morphosyllabic, or moraic). Capitalizing on the multiscriptal nature of Japanese, and using the Stroop color naming task, we show that the overlap in the initial mora between the color name and the written distractor facilitates color naming independent of script type. These results confirm the mora as the phonological unit of word production in Japanese, and establish the Stroop color naming task as a useful task for investigating the fundamental (or "proximate") phonological unit used in speech production.

Abstract

Timing is an essential part of human cognition and of everyday life activities, such as walking or holding a conversation. Previous studies showed that traumatic brain injury (TBI) often affects cognitive functions such as processing speed and time-sensitive abilities, causing long-term sequelae as well as daily impairments. However, the existing evidence on timing capacities in TBI is mostly limited to perception and the processing of isolated intervals. It is therefore open whether the observed deficits extend to motor timing and to continuous dynamic tasks that more closely match daily life activities. The current study set out to answer these questions by assessing audio motor timing abilities and their relationship with cognitive functioning in a group of TBI patients (n=15) and healthy matched controls. We employed a comprehensive set of tasks aiming at testing timing abilities across perception and production and from single intervals to continuous auditory sequences. In line with previous research, we report functional impairments in TBI patients concerning cognitive processing speed and perceptual timing. Critically, these deficits extended to motor timing: The ability to adjust to tempo changes in an auditory pacing sequence was impaired in TBI patients, and this motor timing deficit covaried with measures of processing speed. These findings confirm previous evidence on perceptual and cognitive timing deficits resulting from TBI and provide first evidence for comparable deficits in motor behavior. This suggests basic co-occurring perceptual and motor timing impairments that may factor into a wide range of daily activities. Our results thus place TBI into the wider range of pathologies with well-documented timing deficits (such as Parkinson’s disease) and encourage the search for novel timing-based therapeutic interventions (e.g., employing dynamic and/or musical stimuli) with high transfer potential to everyday life activities.

Abstract

This study investigates the acquisition of post-verbal (temporal) adverbials and post-verbal negation in L2 Dutch. It is based on previous findings for L2 French that post-verbal negation poses less of a problem for L2 learners than post-verbal adverbial placement (Hawkins, Towell, Bazergui, Second Language Research 9: 189-233, 1993; Herschensohn, Minimally raising the verb issue: 325-336, Cascadilla Press, 1998). The current data show that, at first sight, Moroccan and Turkish learners of Dutch also have fewer problems with post-verbal negation than with post-verbal adverbials. However, when a distinction is made between different types of adverbials, it seems that this holds for adverbials of position such as 'today' but not for adverbials of contrast such as 'again'. To account for this difference, it is argued that different types of adverbial occupy different positions in the L2 data for reasons of scope marking. Moreover, the placement of adverbials such as 'again' interacts with the acquisition of finiteness marking (resulting in post-verbal placement), while there is no such interaction between adverbials such as 'today' and finiteness marking.

Abstract

The sortilin-related receptor 1 (SORL1) gene has been associated with increased risk for Alzheimer’s disease (AD). Rare genetic variants in the SORL1 gene have also been implicated in autosomal dominant early-onset AD (EOAD). Here we report a large-scale investigation of the contribution of genetic variability in SORL1 to EOAD in a European EOAD cohort. We performed massive parallel amplicon-based re-sequencing of the full coding region of SORL1 in 1255 EOAD patients and 1938 age- and origin-matched control individuals in the context of the European Early-Onset Dementia (EOD) consortium, originating from Belgium, Spain, Portugal, Italy, Sweden, Germany, and Czech Republic. We identified six frameshift variants and two nonsense variants that were exclusively present in patients. These mutations are predicted to result in haploinsufficiency through nonsense-mediated mRNA decay, which could be confirmed experimentally for SORL1 p.Gly447Argfs*22 observed in a Belgian EOAD patient. We observed a 1.5-fold enrichment of rare non-synonymous variants in patients (carrier frequency 8.8 %; SkatOMeta p value 0.0001). Of the 84 non-synonymous rare variants detected in the full patient/control cohort, 36 were only detected in patients. Our findings underscore a role of rare SORL1 variants in EOAD, but also show a non-negligible frequency of these variants in healthy individuals, necessitating the need for pathogenicity assays. Premature stop codons due to frameshift and nonsense variants, have so far exclusively been found in patients, and their predicted mode of action corresponds with evidence from in vitro functional studies of SORL1 in AD. © 2016, The Author(s).

Abstract

TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. We performed targeted resequencing of TBK1 in 1253 early onset Alzheimer's disease (EOAD) patients from 8 European countries to investigate whether pathogenic TBK1 mutations are enriched among patients with clinical diagnosis of EOAD. Variant frequencies were compared against 2117 origin-matched controls. We identified only 1 LoF mutation (p.Thr79del) in a patient clinically diagnosed with Alzheimer's disease and a positive family history of ALS. We did not observe enrichment of rare variants in EOAD patients compared to controls, nor of rare variants affecting NFκB induction. Of 3 common coding variants, rs7486100 showed evidence of association (OR 1.46 [95% CI 1.13–1.9]; p-value 0.01). Homozygous carriers of the risk allele showed reduced expression of TBK1 (p-value 0.03). Our findings are not indicative of a significant role for TBK1 mutations in EOAD. The association between common variants in TBK1, disease risk and reduced TBK1 expression warrants follow-up in FTD/ALS cohorts. © 2017 The Author(s)

Abstract

Over 25 genes are known to affect the risk of developing Alzheimer disease (AD), the most common neurodegenerative dementia. However, mechanistic insights and improved disease management remains limited, due to difficulties in determining the functional consequences of genetic associations. Transcriptomics is increasingly being used to corroborate or enhance interpretation of genetic discoveries. These approaches, which include second and third generation sequencing, single-cell sequencing, and bioinformatics, reveal allele-specific events connecting AD risk genes to expression profiles, and provide converging evidence of pathophysiological pathways underlying AD. Simultaneously, they highlight brain region- and cell-type-specific expression patterns, and alternative splicing events that affect the straightforward relation between a genetic variant and AD, re-emphasizing the need for an integrated approach of genetics and transcriptomics in understanding AD. © 2018 The Authors

Abstract

To understand why music is structured the way it is, we need an explanation that accounts for both the universality and variability found in musical traditions. Here we test whether statistical universals that have been identified for melodic structures in music can emerge as a result of cultural adaptation to human biases through iterated learning. We use data from an experiment in which artificial whistled systems, where sounds were produced with a slide whistle, were learned by human participants and transmitted multiple times from person to person. These sets of whistled signals needed to be memorized and recalled and the reproductions of one participant were used as the input set for the next. We tested for the emergence of seven different melodic features, such as discrete pitches, motivic patterns, or phrase repetition, and found some evidence for the presence of most of these statistical universals. We interpret this as promising evidence that, similarly to rhythmic universals, iterated learning experiments can also unearth melodic statistical universals. More, ideally cross-cultural, experiments are nonetheless needed. Simulating the cultural transmission of artificial proto-musical systems can help unravel the origins of universal tendencies in musical structures.

Abstract

Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) are complex co-occurring neurodevelopmental conditions. Their genetic architectures reveal striking similarities but also differences, including strong, discordant polygenic associations with educational attainment (EA). To study genetic mechanisms that present as ASD-related positive and ADHD-related negative genetic correlations with EA, we carry out multivariable regression analyses using genome-wide summary statistics (N = 10,610–766,345). Our results show that EA-related genetic variation is shared across ASD and ADHD architectures, involving identical marker alleles. However, the polygenic association profile with EA, across shared marker alleles, is discordant for ASD versus ADHD risk, indicating independent effects. At the single-variant level, our results suggest either biological pleiotropy or co-localisation of different risk variants, implicating MIR19A/19B microRNA mechanisms. At the polygenic level, they point to a polygenic form of pleiotropy that contributes to the detectable genome-wide correlation between ASD and ADHD and is consistent with effect cancellation across EA-related regions.

Abstract

Background

The heritability of language and literacy skills increases from early‐childhood to adolescence. The underlying mechanisms are little understood and may involve (a) the amplification of genetic influences contributing to early language abilities, and/or (b) the emergence of novel genetic factors (innovation). Here, we investigate the developmental origins of genetic factors influencing mid‐childhood/early‐adolescent language and literacy. We evaluate evidence for the amplification of early‐childhood genetic factors for vocabulary, in addition to genetic innovation processes.
Methods

Expressive and receptive vocabulary scores at 38 months, thirteen language‐ and literacy‐related abilities and nonverbal cognition (7–13 years) were assessed in unrelated children from the Avon Longitudinal Study of Parents and Children (ALSPAC, Nindividuals ≤ 6,092). We investigated the multivariate genetic architecture underlying early‐childhood expressive and receptive vocabulary, and each of 14 mid‐childhood/early‐adolescent language, literacy or cognitive skills with trivariate structural equation (Cholesky) models as captured by genome‐wide genetic relationship matrices. The individual path coefficients of the resulting structural models were finally meta‐analysed to evaluate evidence for overarching patterns.
Results

We observed little support for the emergence of novel genetic sources for language, literacy or cognitive abilities during mid‐childhood or early adolescence. Instead, genetic factors of early‐childhood vocabulary, especially those unique to receptive skills, were amplified and represented the majority of genetic variance underlying many of these later complex skills (≤99%). The most predictive early genetic factor accounted for 29.4%(SE = 12.9%) to 45.1%(SE = 7.6%) of the phenotypic variation in verbal intelligence and literacy skills, but also for 25.7%(SE = 6.4%) in performance intelligence, while explaining only a fraction of the phenotypic variation in receptive vocabulary (3.9%(SE = 1.8%)).
Conclusions

Genetic factors contributing to many complex skills during mid‐childhood and early adolescence, including literacy, verbal cognition and nonverbal cognition, originate developmentally in early‐childhood and are captured by receptive vocabulary. This suggests developmental genetic stability and overarching aetiological mechanisms.

Abstract

Individual differences in early-life vocabulary measures are heritable and associated with subsequent reading and cognitive abilities, although the underlying mechanisms are little understood. Here, we (i) investigate the developmental genetic architecture of expressive and receptive vocabulary in early-life and (ii) assess timing of emerging genetic associations with mid-childhood verbal and non-verbal skills. We studied longitudinally assessed early-life vocabulary measures (15–38 months) and later-life verbal and non-verbal skills (7–8 years) in up to 6,524 unrelated children from the population-based Avon Longitudinal Study of Parents and Children (ALSPAC) cohort. We dissected the phenotypic variance of rank-transformed scores into genetic and residual components by fitting multivariate structural equation models to genome-wide genetic-relationship matrices. Our findings show that the genetic architecture of early-life vocabulary involves multiple distinct genetic factors. Two of these genetic factors are developmentally stable and also contribute to genetic variation in mid-childhood skills: One genetic factor emerging with expressive vocabulary at 24 months (path coefficient: 0.32(SE = 0.06)) was also related to later-life reading (path coefficient: 0.25(SE = 0.12)) and verbal intelligence (path coefficient: 0.42(SE = 0.13)), explaining up to 17.9% of the phenotypic variation. A second, independent genetic factor emerging with receptive vocabulary at 38 months (path coefficient: 0.15(SE = 0.07)), was more generally linked to verbal and non-verbal cognitive abilities in mid-childhood (reading path coefficient: 0.57(SE = 0.07); verbal intelligence path coefficient: 0.60(0.10); performance intelligence path coefficient: 0.50(SE = 0.08)), accounting for up to 36.1% of the phenotypic variation and the majority of genetic variance in these later-life traits (≥66.4%). Thus, the genetic foundations of mid-childhood reading and cognitive abilities are diverse. They involve at least two independent genetic factors that emerge at different developmental stages during early language development and may implicate differences in cognitive processes that are already detectable during toddlerhood.

Abstract

How learning affects vocalizations is a key question in the study of animal
communication and human language. Parallel efforts in birds and humans
have taught us much about how vocal learning works on a behavioural
and neurobiological level. Subsequent efforts have revealed a variety of
cases among mammals in which experience also has a major influence on
vocal repertoires. Janik and Slater (Anim. Behav. 60, 1–11. (doi:10.1006/
anbe.2000.1410)) introduced the distinction between vocal usage and pro-
duction learning, providing a general framework to categorize how
different types of learning influence vocalizations. This idea was built on
by Petkov and Jarvis (Front. Evol. Neurosci. 4, 12. (doi:10.3389/fnevo.2012.
00012)) to emphasize a more continuous distribution between limited and
more complex vocal production learners. Yet, with more studies providing
empirical data, the limits of the initial frameworks become apparent.
We build on these frameworks to refine the categorization of vocal learning
in light of advances made since their publication and widespread agreement
that vocal learning is not a binary trait. We propose a novel classification
system, based on the definitions by Janik and Slater, that deconstructs
vocal learning into key dimensions to aid in understanding the mechanisms
involved in this complex behaviour. We consider how vocalizations can
change without learning, and a usage learning framework that considers
context specificity and timing. We identify dimensions of vocal production
learning, including the copying of auditory models (convergence/
divergence on model sounds, accuracy of copying), the degree of change
(type and breadth of learning) and timing (when learning takes place, the
length of time it takes and how long it is retained). We consider grey
areas of classification and current mechanistic understanding of these beha-
viours. Our framework identifies research needs and will help to inform
neurobiological and evolutionary studies endeavouring to uncover the
multi-dimensional nature of vocal learning.
This article is part of the theme issue ‘Vocal learning in animals and
humans’.

Abstract

Neurodevelopmental disorders that disturb speech and language are highly heritable. Isolation of the underlying genetic risk factors has been hampered by complexity of the phenotype and potentially large number of contributing genes. One exception is the identification of rare heterozygous mutations of the FOXP2 gene in a monogenic syndrome characterised by impaired sequencing of articulatory gestures, disrupting speech (developmental verbal dyspraxia, DVD), as well as multiple deficits in expressive and receptive language. The protein encoded by FOXP2 belongs to a divergent subgroup of forkhead-box transcription factors, with a distinctive DNA-binding domain and motifs that mediate hetero- and homodimerisation. FOXP1, the most closely related member of this subgroup, can directly interact with FOXP2 and is co-expressed in neural structures relevant to speech and language disorders. Moreover, investigations of songbird orthologues indicate that combinatorial actions of the two proteins may play important roles in vocal learning, leading to the suggestion that human FOXP1 should be considered a strong candidate for involvement in DVD. Thus, in this study, we screened the entire coding region of FOXP1 (exons and flanking intronic sequence) for nucleotide changes in a panel of probands used earlier to detect novel mutations in FOXP2. A non-synonymous coding change was identified in a single proband, yielding a proline-to-alanine change (P215A). However, this was also found in a random control sample. Analyses of non-coding SNP changes did not find any correlation with affection status. We conclude that FOXP1 mutations are unlikely to represent a major cause of DVD.

Abstract

Childhood syndromes disturbing language development are common and display high degrees of heritability. In most cases, the underlying genetic architecture is likely to be complex, involving multiple chromosomal loci and substantial heterogeneity, which makes it difficult to track down the crucial genomic risk factors. Investigation of rare Mendelian phenotypes offers a complementary route for unravelling key neurogenetic pathways. The value of this approach is illustrated by the discovery that heterozygous FOXP2 (where FOX is forkhead box) mutations cause an unusual monogenic disorder, characterized by problems with articulating speech along with deficits in expressive and receptive language. FOXP2 encodes a regulatory protein, belonging to the forkhead box family of transcription factors, known to play important roles in modulating gene expression in development and disease. Functional genetics using human neuronal models suggest that the different FOXP2 isoforms generated by alternative splicing have distinct properties and may act to regulate each other's activity. Such investigations have also analysed the missense and nonsense mutations found in cases of speech and language disorder, showing that they alter intracellular localization, DNA binding and transactivation capacity of the mutated proteins. Moreover, in the brains of mutant mice, aetiological mutations have been found to disrupt the synaptic plasticity of Foxp2-expressing circuitry. Finally, although mutations of FOXP2 itself are rare, the downstream networks which it regulates in the brain appear to be broadly implicated in typical forms of language impairment. Thus, through ongoing identification of regulated targets and interacting co-factors, this gene is providing the first molecular entry points into neural mechanisms that go awry in language-related disorders