Publications

Abstract

Humans can easily extract the rhythm of a complex sound, like music, and move to its regular beat, like in dance. These abilities are modulated by musical training and vary significantly in untrained individuals. The causes of this variability are multidimensional and typically hard to grasp in single tasks. To date we lack a comprehensive model capturing the rhythmic fingerprints of both musicians and non-musicians. Here we harnessed machine learning to extract a parsimonious model of rhythmic abilities, based on behavioral testing (with perceptual and motor tasks) of individuals with and without formal musical training (n = 79). We demonstrate that variability in rhythmic abilities and their link with formal and informal music experience can be successfully captured by profiles including a minimal set of behavioral measures. These findings highlight that machine learning techniques can be employed successfully to distill profiles of rhythmic abilities, and ultimately shed light on individual variability and its relationship with both formal musical training and informal musical experiences.

Abstract

In the present article we provide evidence for the occurrence of transfer of conceptualization patterns in narratives of two German-Turkish bilingual groups. All bilingual participants grew up in Germany, but only one group is still resident in Germany (n = 49). The other, the returnees, moved back to Turkey after having lived in Germany for thirteen years (n = 35). The study is based on the theoretical framework for conceptual transfer outlined in Jarvis and Pavlenko (2008) and on the typology of satellite-framed and verb-framed languages developed by Talmy (1985, 1991, 2000a, b) and Slobin (1987, 1996, 2003, 2004, 2005, 2006). In the present study we provide evidence for the hypothesis that language structure affects the organization of information structure at the level of the Conceptualizer, and show that bilingual speakers’ conceptualization of motion events is influenced by the dominant linguistic environment in both languages (German for the group in Germany and Turkish for the returnees). The returnees follow the Turkish blueprints for the conceptualization of motion, in both Turkish and German event construals, whereas the German-resident bilinguals follow the German blueprints, when speaking German as well as Turkish. We argue that most of the patterns found are the result of transfer of conceptualization patterns from the dominant language of the environment.

Abstract

Two experiments investigated whether lexical retrieval for speaking can be characterized as a competitive process by assessing the effects of semantic context on picture and word naming in German. In Experiment 1 we demonstrated that pictures are named slower in the context of same-category items than in the context of items from various semantic categories, replicating findings by Kroll and Stewart (Journal of Memory and Language, 33 (1994) 149). In Experiment 2 we used words instead of pictures. Participants either named the words in the context of same- or different-category items, or produced the words together with their corresponding determiner. While in the former condition words were named faster in the context of samecategory items than of different-category items, the opposite pattern was obtained for the latter condition. These findings confirm the claim that the interfering effect of semantic context reflects competition in the retrieval of lexical entries in speaking.

Abstract

Many children with Specific Language Impairment (SLI) show impairments in discriminating auditorily presented stimuli. The present study investigates whether these discrimination problems are speech specific or of a general auditory nature. This was studied by using a linguistic and nonlinguistic contrast that were matched for acoustic complexity in an active behavioral task and a passive ERP paradigm, known to elicit the mismatch negativity (MMN). In addition, attention skills and a variety of language skills were measured. Participants were 25 five-year-old Dutch children with SLI having receptive as well as productive language problems and 25 control children with typical speechand language development. At the behavioral level, the SLI group was impaired in discriminating the linguistic contrast as compared to the control group, while both groups were unable to distinguish the non-linguistic contrast. Moreover, the SLI group tended to have impaired attention skills which correlated with performance on most of the language tests. At the neural level, the SLI group, in contrast to the control group, did not show an MMN in response to either the linguistic or nonlinguistic contrast. The MMN data are consistent with an account that relates the symptoms in children with SLI to non-speech processing difficulties.

Abstract

Cognitive control involves not only the ability to manage competing task demands, but also the ability to adapt task performance during learning. This study investigated how violation-, response-, and feedback-related electrophysiological (EEG) activity changes over time during language learning. Twenty-two Dutch learners of German classified short prepositional phrases presented serially as text. The phrases were initially presented without feedback during a pre-test phase, and then with feedback in a training phase on two separate days spaced 1 week apart. The stimuli included grammatically correct phrases, as well as grammatical violations of gender and declension. Without feedback, participants' classification was near chance and did not improve over trials. During training with feedback, behavioral classification improved and violation responses appeared to both types of violation in the form of a P600. Feedback-related negative and positive components were also present from the first day of training. The results show changes in the electrophysiological responses in concert with improving behavioral discrimination, suggesting that the activity is related to grammar learning.

Abstract

It is generally accepted that the relationship between human genes
and language is very complex and multifaceted. This has its roots in the
“regular” complexity governing the interplay among genes and between genes
and environment for most phenotypes, but with the added layer of supraontogenetic
and supra-individual processes defining culture. At the coarsest
level, focusing on the species, it is clear that human-specific—but not necessarily
faculty-specific—genetic factors subtend our capacity for language and a
currently very productive research program is aiming at uncovering them. At the
other end of the spectrum, it is uncontroversial that individual-level variations in
different aspects related to speech and language have an important genetic
component and their discovery and detailed characterization have already started
to revolutionize the way we think about human nature. However, at the
intermediate, glossogenetic/population level, the relationship becomes controversial,
partly due to deeply ingrained beliefs about language acquisition and
universality and partly because of confusions with a different type of genelanguages
correlation due to shared history. Nevertheless, conceptual, mathematical
and computational models—and, recently, experimental evidence from
artificial languages and songbirds—have repeatedly shown that genetic biases
affecting the acquisition or processing of aspects of language and speech can be
amplified by population-level intergenerational cultural processes and made
manifest either as fixed “universal” properties of language or as structured
linguistic diversity. Here, I review several such models as well as the recently
proposed case of a causal relationship between the distribution of tone languages
and two genes related to brain growth and development, ASPM and Microcephalin,
and I discuss the relevance of such genetic biasing for language
evolution, change, and diversity.

Abstract

Language is a hallmark of our species and understanding linguistic diversity is an area of major interest. Genetic factors influencing the cultural transmission of language provide a powerful and elegant explanation for aspects of the present day linguistic diversity and a window into the emergence and evolution of language. In particular, it has recently been proposed that linguistic tone—the usage of voice pitch to convey lexical and grammatical meaning—is biased by two genes involved in brain growth and development, ASPM and Microcephalin. This hypothesis predicts that tone is a stable characteristic of language because of its ‘genetic anchoring’. The present paper tests this prediction using a Bayesian phylogenetic framework applied to a large set of linguistic features and language families, using multiple software implementations, data codings, stability estimations, linguistic classifications and outgroup choices. The results of these different methods and datasets show a large agreement, suggesting that this approach produces reliable estimates of the stability of linguistic data. Moreover, linguistic tone is found to be stable across methods and datasets, providing suggestive support for the hypothesis of genetic influences on its distribution.

Abstract

* Deriziotis, P., André, R., and Smith. D.M. contributed equally to this work * - Prion diseases are associated with the conversion of cellular prion protein (PrP(C)) to toxic β-sheet isoforms (PrP(Sc)), which are reported to inhibit the ubiquitin-proteasome system (UPS). Accordingly, UPS substrates accumulate in prion-infected mouse brains, suggesting impairment of the 26S proteasome. A direct interaction between its 20S core particle and PrP isoforms was demonstrated by immunoprecipitation. β-PrP aggregates associated with the 20S particle, but did not impede binding of the PA26 complex, suggesting that the aggregates do not bind to its ends. Aggregated β-PrP reduced the 20S proteasome's basal peptidase activity, and the enhanced activity induced by C-terminal peptides from the 19S ATPases or by the 19S regulator itself, including when stimulated by polyubiquitin conjugates. However, the 20S proteasome was not inhibited when the gate in the α-ring was open due to a truncation mutation or by association with PA26/PA28. These PrP aggregates inhibit by stabilising the closed conformation of the substrate entry channel. A similar inhibition of substrate entry into the proteasome may occur in other neurodegenerative diseases where misfolded β-sheet-rich proteins accumulate.

Abstract

Developing efficient electromagnetic interference shielding materials has become significantly important in present times. This paper reports a series of (Ba1-xCax)(Ti0.9Sn0.1)O3 (BCTS) ((x =0, 0.01, 0.05, & 0.1)ceramics synthesized by conventional method which were studied for electromagnetic interference shielding (EMI) applications in X-band (8-12.4 GHz). EMI shielding properties and all S parameters (S11 & S12) of BCTS ceramic pellets were measured in the frequency range (8-12.4 GHz) using a Vector Network Analyser (VNA). The BCTS ceramic pellets for x = 0.05 showed maximum total effective shielding of 46 dB indicating good shielding behaviour for high-frequency applications. However, the development of lead-free ceramics with different concentrations usually requires iterative experiments resulting in, longer development cycles and higher costs. To address this, we used a machine learning (ML) strategy to predict the EMI shielding for different concentrations and experimentally verify the concentration predicted to give the best EMI shielding. The ML model predicted BCTS ceramics with concentration (x = 0.06, 0.07, 0.08, and 0.09) to have higher shielding values. On experimental verification, a shielding value of 58 dB was obtained for x = 0.08, which was significantly higher than what was obtained experimentally before applying the ML approach. Our results show the potential of using ML in accelerating the process of optimal material development, reducing the need for repeated experimental measures significantly.

Abstract

This article explores language, culture, and the perceptual world as reflected in a particular linguistic device: ideophones, marked words that depict sensory imagery. Data from a range of elicitation tasks shows that ideophones are a key resource in talking about sensory perception in Siwu. Their use in everyday conversations underlines their communicative versatility while at the same time showing that people delight in their expressiveness. In ideophones, we have an expressive resource that combines sheer playfulness with extraordinary precision

Abstract

The robustness and flexibility of human language is underpinned by a machinery of interactive repair. Repair is deeply intertwined with two core properties of human language: reflexivity (it can communicate about itself) and accountability (it is used to publicly enforce social norms). We review empirical and theoretical advances from across the cognitive sciences that mark interactive repair as a domain of pragmatic universals, a key place to study metacognition in interaction, and a system that enables collective computation. This provides novel insights on the role of repair in comparative cognition, language development and human-computer interaction. As an always-available fallback option and an infrastructure for negotiating social commitments, interactive repair is foundational to the resilience, complexity, and flexibility of human language.

Abstract

A syntactic and a semantic task were per-formed by German-speaking healthy subjects and apha-sics with lesions in the dominant left hemisphere. In both
tasks, pictures of objects were presented that had to be classified by pressing buttons. The classification was into grammatical gender in the syntactic task (masculine or feminine gender?) and into semantic category in the se-
mantic task (man- or nature made?). Behavioral data revealed a significant Group by Task interaction, with
aphasics showing most pronounced problems with syn-
tax. Brain event-related potentials 300–600 ms following picture onset showed different task-dependent laterality
patterns in the two groups. In controls, the syntax task
induced a left-lateralized negative ERP, whereas the semantic task produced more symmetric responses over the hemispheres. The opposite was the case in the patients, where, paradoxically, stronger laterality of physio-logical brain responses emerged in the semantic task than in the syntactic task. We interpret these data based on neuro-psycholinguistic models of word processing and current theories about the roles of the hemispheres in language recovery.

Abstract

Prediction-based accounts of language acquisition have the potential to explain several different effects in child language acquisition and adult language processing. However, evidence regarding the developmental predictions of such accounts is mixed. Here, we consider several predictions of these accounts in two large-scale developmental studies of syntactic priming of the English dative alternation. Study 1 was a cross-sectional study (N = 140) of children aged 3−9 years, in which we found strong evidence of abstract priming and the lexical boost, but little evidence that either effect was moderated by age. We found weak evidence for a prime surprisal effect; however, exploratory analyses revealed a protracted developmental trajectory for verb-structure biases, providing an explanation as for why prime surprisal effects are more elusive in developmental populations. In a longitudinal study (N = 102) of children in tightly controlled age bands at 42, 48, and 54 months, we found priming effects emerged on trials with verb overlap early but did not observe clear evidence of priming on trials without verb overlap until 54 months. There was no evidence of a prime surprisal effect at any time point and none of the effects were moderated by age. The results relating to the emergence of the abstract priming and lexical boost effects are consistent with prediction-based models, while the absence of age-related effects appears to reflect the structure-specific challenges the dative presents to English-acquiring children. Overall, our complex pattern of findings demonstrates the value of developmental data sets in testing psycholinguistic theory.

Abstract

We previously reported an association with a putative functional variant in the ADAMTSL3 gene, just below genome-wide significance in a genome-wide association study of schizophrenia. As variants impacting the function of ADAMTSL3 (a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like-3) could illuminate a novel disease mechanism and a potentially specific target, we have used complementary approaches to further evaluate the association. We imputed genotypes and performed high density association analysis using data from the HapMap and 1000 genomes projects. To review all variants that could potentially cause the association, and to identify additional possible pathogenic rare variants, we sequenced ADAMTSL3 in 92 schizophrenics. A total of 71 ADAMTSL3 variants were identified by sequencing, many were also seen in the 1000 genomes data, but 26 were novel. None of the variants identified by re-sequencing was in strong linkage disequilibrium (LD) with the associated markers. Imputation analysis refined association between ADAMTSL3 and schizophrenia, and highlighted additional common variants with similar levels of association. We evaluated the functional consequences of all variants identified by sequencing, or showing direct or imputed association. The strongest evidence for function remained with the originally associated variant, rs950169, suggesting that this variant may be causal of the association. Rare variants were also identified with possible functional impact. Our study confirms ADAMTSL3 as a candidate for further investigation in schizophrenia, using the variants identified here. The utility of imputation analysis is demonstrated, and we recommend wider use of this method to re-evaluate the existing canon of suggestive schizophrenia associations.

Abstract

Die Awetí sind ein kleiner Indianerstamm in Zentralbrasilien, der bislang nur wenig Kontakt mit Weißen hatte. Im Zuge eines Programms der Volkswagenstiftung zur Dokumentation bedrohter Sprachen wird unser Autor die Awetí erneut besuchen und berichtet als „jüngerer Bruder des Häuptlings“ über seine Bemühungen, die Sprache der Awetí für künftige Generationen festzuhalten.

Abstract

This paper describes the different kinds of nominalizations and the main forms used in subordination in Awetí, a Tupian language spoken by ca. 150 people in central Bra-zil in the Upper Xingu area. Awetí does not belong to, but is arguably the closest rela-tive of the well-known Tupí-Guaraní subfamily, the largest branch of the Tupí stock. In our analysis, subordination in Awetí is achieved by means of forms which may have developed from nominalizations, but which are synchronously possibly best classified as verbal moods, belonging into the verbal paradigm. On the other hand, nouns (and in particular nouns derived from verbs) often appear as predicates, especially in equality and cleft sentences.

Abstract

This paper describes the distribution and phonetic properties of accentuation of word forms in Awetí, a Tupian language spoken by ca. 150 people in central Brazil in the Upper Xingu area. Awetí does not belong to, but is arguably the closest relative of the better known Tupí-Guaraní subfamily, the largest branch of the Tupí stock. After a short overview over the word classes and general phonotactics of Awetí (sec-tion 2), we briefly discuss the notion ‘word accent’ and show that, in Awetí, it is generally located on the last syllable of the stem in morphologically simple forms (section 3). We then discuss regular and isolated exceptions to this rule (section 4). In section 5, we describe the distribution of the word accent when inflectional or deriva-tional suffixes are present – usually, the word accent of the word form with suffixes continues to be on the last syllable of the stem. After this descriptive part, we present a preliminary study of the acoustic-phonetic details of the manifestation of the word accent, observing word forms in isolation (section 6) and in different syntactic con-texts (section 7). The results are briefly summarized in the conclusion (section 8)

Abstract

Investigating human cognitive faculties such as language, attention, and memory most often relies on testing small and homogeneous groups of volunteers coming to research facilities where they are asked to participate in behavioral experiments. We show that this limitation and sampling bias can be overcome by using smartphone technology to collect data in cognitive science experiments from thousands of subjects from all over the world. This mass coordinated use of smartphones creates a novel and powerful scientific ‘‘instrument’’ that yields the data necessary to test universal theories of cognition. This increase in power represents a potential revolution in cognitive science

Abstract

This paper analyzes newly collected lexical data from 26 languages of the Aslian subgroup of the Austroasiatic language family using computational phylogenetic methods. We show the most likely topology of the Aslian family tree, discuss rooting and external relationships to other Austroasiatic languages, and investigate differences in the rates of diversification of different branches. Evidence is given supporting the classification of Jah Hut as a fourth top level subgroup of the family. The phylogenetic positions of known geographic and linguistic outlier languages are clarified, and the relationships of the little studied Aslian languages of Southern Thailand to the rest of the family are explored.

Abstract

Languages vary widely but not without limit. The central goal of linguistics is to describe the diversity of human languages and explain the constraints on that diversity. Generative linguists following Chomsky have claimed that linguistic diversity must be constrained by innate parameters that are set as a child learns a language1, 2. In contrast, other linguists following Greenberg have claimed that there are statistical tendencies for co-occurrence of traits reflecting universal systems biases3, 4, 5, rather than absolute constraints or parametric variation. Here we use computational phylogenetic methods to address the nature of constraints on linguistic diversity in an evolutionary framework6. First, contrary to the generative account of parameter setting, we show that the evolution of only a few word-order features of languages are strongly correlated. Second, contrary to the Greenbergian generalizations, we show that most observed functional dependencies between traits are lineage-specific rather than universal tendencies. These findings support the view that—at least with respect to word order—cultural evolution is the primary factor that determines linguistic structure, with the current state of a linguistic system shaping and constraining future states.

Abstract

Impaired understanding of others' sensations and emotions as well as abnormal experience of their own emotions and sensations is frequently reported in individuals with Autism Spectrum Disorder (ASD). It is hypothesized that these abnormalities are based on altered connectivity within “shared” neural networks involved in emotional awareness of self and others. The insula is considered a central brain region in a network underlying these functions, being located at the transition of information about bodily arousal and the physiological state of the body to subjective feelings. The present study investigated the intrinsic functional connectivity properties of the insula in 14 high-functioning participants with ASD (HF-ASD) and 15 typically developing (TD) participants in the age range between 12 and 20 years by means of “resting state” or “nontask” functional magnetic resonance imaging. Essentially, a distinction was made between anterior and posterior regions of the insular cortex. The results show a reduced functional connectivity in the HF-ASD group, compared with the TD group, between anterior as well as posterior insula and specific brain regions involved in emotional and sensory processing. It is suggested that functional abnormalities in a network involved in emotional and interoceptive awareness might be at the basis of altered emotional experiences and impaired social abilities in ASD, and that these abnormalities are partly based on the intrinsic functional connectivity properties of such a network.

Abstract

Although there is a large body of research assessing whether exposure to narratives boosts social cognition immediately afterward, not much research has investigated the underlying mechanism of this putative effect. This experiment investigates the possibility that reading a narrative increases social curiosity directly afterward, which might explain the short-term boosts in social cognition reported by some others. We developed a novel measure of state social curiosity and collected data from participants (N = 222) who were randomly assigned to read an excerpt of narrative fiction or expository nonfiction. Contrary to our expectations, we found that those who read a narrative exhibited less social curiosity afterward than those who read an expository text. This result was not moderated by trait social curiosity. An exploratory analysis uncovered that the degree to which texts present readers with social targets predicted less social curiosity. Our experiment demonstrates that reading narratives, or possibly texts with social content in general, may engage and fatigue social-cognitive abilities, causing a temporary decrease in social curiosity. Such texts might also temporarily satisfy the need for social connection, temporarily reducing social curiosity. Both accounts are in line with theories describing how narratives result in better social cognition over the long term.

Abstract

In two experiments, we investigated whether body posture influences people’s estimation of quantities. According to the mental-number-line theory, people mentally represent numbers along a line with smaller numbers on the left and larger numbers on the right. We hypothesized that surreptitiously making people lean to the right or to the left would affect their quantitative estimates. Participants answered estimation questions while standing on a Wii Balance Board. Posture was manipulated within subjects so that participants answered some questions while they leaned slightly to the left, some questions while they leaned slightly to the right, and some questions while they stood upright. Crucially, participants were not aware of this manipulation. Estimates were significantly smaller when participants leaned to the left than when they leaned to the right.

Abstract

Genetic investigations of people with speech and language disorders can provide windows into key aspects of human biology. Most genomic research into impaired speech development has so far focused on childhood apraxia of speech (CAS), a rare neurodevelopmental disorder characterized by difficulties with coordinating rapid fine motor sequences that underlie proficient speech. In 2001, pathogenic variants of FOXP2 provided the first molecular genetic accounts of CAS aetiology. Since then, disruptions in several other genes have been implicated in CAS, with a substantial proportion of cases being explained by high-penetrance variants. However, the genetic architecture underlying other speech-related disorders remains less well understood. Thus, in the present study, we used systematic DNA sequencing methods to investigate idiopathic speech delay, as characterized by delayed speech development in the absence of a motor speech diagnosis (such as CAS), a language/reading disorder, or intellectual disability. We performed genome sequencing in a cohort of 23 children with a rigorous diagnosis of idiopathic speech delay. For roughly half of the sample (ten probands), sufficient DNA was also available for genome sequencing in both parents, allowing discovery of de novo variants. In the thirteen singleton probands, we focused on identifying loss-of-function and likely damaging missense variants in genes intolerant to such mutations. We found that one speech delay proband carried a pathogenic frameshift deletion in SETD1A, a gene previously implicated in a broader variable monogenic syndrome characterized by global developmental problems including delayed speech and/or language development, mild intellectual disability, facial dysmorphisms, and behavioural and psychiatric symptoms. Of note, pathogenic SETD1A variants have been independently reported in children with CAS in two separate studies. In other probands in our speech delay cohort, likely pathogenic missense variants were identified affecting highly conserved amino acids in key functional domains of SPTBN1 and ARF3. Overall, this study expands the phenotype spectrum associated with pathogenic SETD1A variants, to also include idiopathic speech delay without CAS or intellectual disability, and suggests additional novel potential candidate genes that may harbour high-penetrance variants that can disrupt speech development.

Abstract

Reviewed work(s): Dying Words: Endangered Languages and What They Have to Tell Us. By Nicholas Evans. Indianapolis: Wiley-Blackwell, 2010. On the Death and Life of Languages. By Claude Hagège, translated by Jody Gladding. New Haven, CT: Yale University Press, 2009.

Abstract

‘Lip-pointing’ is a widespread but little-documented form of deictic gesture, which may involve not just protruding one or both lips, but also raising the head, sticking out the chin, lifting the eyebrows, among other things. This paper discusses form and function of lip-pointing with reference to a set of examples collected on video in Laos. There are various parameters with respect to which the conventional form of a lip-pointing gesture may vary. There is also a range of ways in which lip-pointing gestures can be coordinated with other kinds of deictic gesture such as various forms of hand pointing. The attested coordinating/sequencing possibilities can be related to specific functional properties of lip-pointing among Lao speakers, particularly in the context of other forms of deictic gesture, which have different functional properties. It is argued that the ‘vector’ of lip-pointing is in fact defined by gaze, and that the lip-pointing action itself (like other kinds of ‘pointing’ involving the head area) is a ‘gaze-switch’, i.e. it indicates that the speaker is now pointing out something with his or her gaze. Finally, I consider the position of lip-pointing in the broader deictic gesture system of Lao speakers, firstly as a ‘lower register’ form, and secondly as a form of deictic gesture which may contrast with forms of hand pointing.

Abstract

This article examines vocabulary for taste and flavor in two neighboring but unrelated languages (Lao and Kri) spoken in Laos, Southeast Asia. There are very close similarities in underlying semantic distinctions made in the taste/flavor domain in these two languages, not just in the set of basic tastes distinguished (sweet, salty, bitter, sour, umami or glutamate), but in a series of further basic terms for flavors, specifying texture and other sensations in the mouth apart from pure taste (e.g. starchy, dry in the mouth, minty, tingly, spicy). After presenting sets of taste/flavor vocabulary in the two languages and showing their high degree of convergence, the article discusses some methodological and theoretical issues that arise from the observation of close convergence in semantic structure across languages, in particular the issue of how much inter-speaker variation is possible not only across apparently highly convergent systems, but also within languages. The final section raises possible causes for the close convergence of semantic structure in the two languages. The conclusion is that the likely cause of this convergence is historical social contact between speech communities in the area, although the precise mode of influence (e.g. direction of transmission) is unknown.

Abstract

Purpose:
Stuttering is a speech condition that can have a major impact on a person's quality of life. This descriptive study aimed to identify subgroups of people who stutter (PWS) based on stuttering burden and to investigate differences between these subgroups on psychosocial aspects of life.

Method:
The study included 618 adult participants who stutter. They completed a detailed survey examining stuttering symptomatology, impact of stuttering on anxiety, education and employment, experience of stuttering, and levels of depression, anxiety, and stress. A two-step cluster analytic procedure was performed to identify subgroups of PWS, based on self-report of stuttering frequency, severity, affect, and anxiety, four measures that together inform about stuttering burden.

Results:
We identified a high- (n = 230) and a low-burden subgroup (n = 372). The high-burden subgroup reported a significantly higher impact of stuttering on education and employment, and higher levels of general depression, anxiety, stress, and overall impact of stuttering. These participants also reported that they trialed more different stuttering therapies than those with lower burden.

Conclusions:
Our results emphasize the need to be attentive to the diverse experiences and needs of PWS, rather than treating them as a homogeneous group. Our findings also stress the importance of personalized therapeutic strategies for individuals with stuttering, considering all aspects that could influence their stuttering burden. People with high-burden stuttering might, for example, have a higher need for psychological therapy to reduce stuttering-related anxiety. People with less emotional reactions but severe speech distortions may also have a moderate to high burden, but they may have a higher need for speech techniques to communicate with more ease. Future research should give more insights into the therapeutic needs of people highly burdened by their stuttering.

Abstract

Words are often pronounced very differently in formal speech than in everyday conversations. In conversational speech, they may contain weaker segments, fewer sounds, and even fewer syllables. The English word yesterday, for instance, may be pronounced as [j epsilon integral eI]. This article forms an introduction to the phenomenon of reduced pronunciation variants and to the eight research articles in this issue on the characteristics, production, and comprehension of these variants. We provide a description of the phenomenon, addressing its high frequency of occurrence in casual conversations in various languages, the gradient nature of many reduction processes, and the intelligibility of reduced variants to native listeners. We also describe the relevance of research on reduced variants for linguistic and psychological theories as well as for applications in speech technology and foreign language acquisition. Since reduced variants occur more often in spontaneous than in formal speech, they are hard to study in the laboratory under well controlled conditions. We discuss the advantages and disadvantages of possible solutions, including the research methods employed in the articles in this special issue, based on corpora and experiments. This article ends with a short overview of the articles in this issue.

Abstract

Reciprocals are an increasingly hot topic in linguistic research. This reflects the intersection of several factors: the semantic and syntactic complexity of reciprocal constructions, their centrality to some key points of linguistic theorizing (such as Binding Conditions on anaphors within Government and Binding Theory), and the centrality of reciprocity to theories of social structure, human evolution and social cognition. No existing work, however, tackles the question of exactly what reciprocal constructions mean cross-linguistically. Is there a single, Platonic ‘reciprocal’ meaning found in all languages, or is there a cluster of related concepts which are nonetheless impossible to characterize in any single way? That is the central goal of this volume, and it develops and explains new techniques for tackling this question. At the same time, it confronts a more general problem facing semantic typology: how to investigate a category cross-linguistically without pre-loading the definition of the phenomenon on the basis of what is found in more familiar languages.

Abstract

The value of normative models in research and clinical practice relies on their robustness and a systematic comparison of different modelling algorithms and parameters; however, this has not been done to date. We aimed to identify the optimal approach for normative modelling of brain morphometric data through systematic empirical benchmarking, by quantifying the accuracy of different algorithms and identifying parameters that optimised model performance. We developed this framework with regional morphometric data from 37 407 healthy individuals (53% female and 47% male; aged 3–90 years) from 87 datasets from Europe, Australia, the USA, South Africa, and east Asia following a comparative evaluation of eight algorithms and multiple covariate combinations pertaining to image acquisition and quality, parcellation software versions, global neuroimaging measures, and longitudinal stability. The multivariate fractional polynomial regression (MFPR) emerged as the preferred algorithm, optimised with non-linear polynomials for age and linear effects of global measures as covariates. The MFPR models showed excellent accuracy across the lifespan and within distinct age-bins and longitudinal stability over a 2-year period. The performance of all MFPR models plateaued at sample sizes exceeding 3000 study participants. This model can inform about the biological and behavioural implications of deviations from typical age-related neuroanatomical changes and support future study designs. The model and scripts described here are freely available through CentileBrain.

Abstract

Langerin mediates the carbohydrate-dependent uptake of pathogens by Langerhans cells in the first step of antigen presentation to the adaptive immune system. Langerin binds to an unusually diverse number of endogenous and pathogenic cell surface carbohydrates, including mannose-containing O-specific polysaccharides derived from bacterial lipopolysaccharides identified here by probing a microarray of bacterial polysaccharides. Crystal structures of the carbohydrate-recognition domain from human langerin bound to a series of oligomannose compounds, the blood group B antigen, and a fragment of β-glucan reveal binding to mannose, fucose, and glucose residues by Ca(2+) coordination of vicinal hydroxyl groups with similar stereochemistry. Oligomannose compounds bind through a single mannose residue, with no other mannose residues contacting the protein directly. There is no evidence for a second Ca(2+)-independent binding site. Likewise, a β-glucan fragment, Glcβ1-3Glcβ1-3Glc, binds to langerin through the interaction of a single glucose residue with the Ca(2+) site. The fucose moiety of the blood group B trisaccharide Galα1-3(Fucα1-2)Gal also binds to the Ca(2+) site, and selective binding to this glycan compared to other fucose-containing oligosaccharides results from additional favorable interactions of the nonreducing terminal galactose, as well as of the fucose residue. Surprisingly, the equatorial 3-OH group and the axial 4-OH group of the galactose residue in 6SO(4)-Galβ1-4GlcNAc also coordinate Ca(2+), a heretofore unobserved mode of galactose binding in a C-type carbohydrate-recognition domain bearing the Glu-Pro-Asn signature motif characteristic of mannose binding sites. Salt bridges between the sulfate group and two lysine residues appear to compensate for the nonoptimal binding of galactose at this site.

Abstract

Adults process speech incrementally, rapidly identifying spoken words on the basis of initial phonetic information sufficient to distinguish them from alternatives. In this study, infants in the second year also made use of word-initial information to understand fluent speech. The time course of comprehension was examined by tracking infants' eye movements as they looked at pictures in response to familiar spoken words, presented both as whole words in intact form and as partial words in which only the first 300 ms of the word was heard. In Experiment 1, 21-month-old infants (N = 32) recognized partial words as quickly and reliably as they recognized whole words; in Experiment 2, these findings were replicated with 18-month-old infants (N = 32). Combining the data from both experiments, efficiency in spoken word recognition was examined in relation to level of lexical development. Infants with more than 100 words in their productive vocabulary were more accurate in identifying familiar words than were infants with less than 60 words. Grouped by response speed, infants with faster mean reaction times were more accurate in word recognition and also had larger productive vocabularies than infants with slower response latencies. These results show that infants in the second year are capable of incremental speech processing even before entering the vocabulary spurt, and that lexical growth is associated with increased speed and efficiency in understanding spoken language.

Abstract

The language faculty is physically realized in the neurobiological infrastructure of the human brain. Despite significant efforts, an integrated understanding of this system remains a formidable challenge. What is missing from most theoretical accounts is a specification of the neural mechanisms that implement language function. Computational models that have been put forward generally lack an explicit neurobiological foundation. We propose a neurobiologically informed causal modeling approach which offers a framework for how to bridge this gap. A neurobiological causal model is a mechanistic description of language processing that is grounded in, and constrained by, the characteristics of the neurobiological substrate. It intends to model the generators of language behavior at the level of implementational causality. We describe key features and neurobiological component parts from which causal models can be built and provide guidelines on how to implement them in model simulations. Then we outline how this approach can shed new light on the core computational machinery for language, the long-term storage of words in the mental lexicon and combinatorial processing in sentence comprehension. In contrast to cognitive theories of behavior, causal models are formulated in the “machine language” of neurobiology which is universal to human cognition. We argue that neurobiological causal modeling should be pursued in addition to existing approaches. Eventually, this approach will allow us to develop an explicit computational neurobiology of language.

Abstract

The present study addresses questions concerning bilinguals’ attainment in the two languages by investigating the extent to which early bilinguals manage to apply the information structure required in each language when producing a complex text. In re-narrating the content of a film, speakers have to break down the perceived series of dynamic situations and structure relevant information into units that are suited for linguistic expression. The analysis builds on typological studies of Germanic and Romance languages which investigate the role of grammaticized concepts in determining core features in information structure. It takes a global perspective in that it focuses on factors that determine information selection and information structure that hold in macrostructural terms for the text as a whole (factors driving information selection, the temporal frame used to locate events on the time line, and the means used in reference management). A first comparison focuses on Dutch and German monolingual native speakers and shows that despite overall typological similarities, there are subtle though systematic differences between the two languages in the aforementioned areas of information structure. The analyses of the bilinguals focus on their narratives in both languages, and compares the patterns found to those found in the monolingual narratives. Findings show that the method used provides insights into the individual bilingual’s attainment in the two languages and identifies either balanced levels of attainment, patterns showing higher degrees of conformity with one of the languages, as well as bilingual-specific patterns of performance.

Abstract

This experimental study investigates event construal by early Dutch–German bilinguals, as reflected in their oral depiction of everyday events shown in video clips. The starting point is the finding that the expression of an aspectual perspective (progressive aspect), and its consequences for event construal, is dependent on the extent to which means are grammaticalized, as in English (e.g., progressive aspect) or not, as in German (von Stutterheim & Carroll, 2006). The present study shows that although speakers of Dutch and German have comparable means to mark this aspectual concept, at a first glance at least, they differ markedly both in the contexts as well as in the extent to which this aspectual perspective is selected, being highly frequent in specific contexts in Dutch, but not in German. The present experimental study investigates factors that lead to the use of progressive aspect by early bilinguals, using video clips (with different types of events varied along specific dimensions on a systematic basis). The study includes recordings of eye movements, and examines how far an aspectual perspective drives allocation of attention during information intake while viewing the stimulus material, both for and while speaking. Although the bilinguals have acquired the means to express progressive aspect in Dutch, their use shows a pattern that differs from monolingual Dutch speakers. Interestingly, these differences are reflected in different patterns in the direction of attention (eye movements) when verbalizing information on events.

Abstract

This paper focuses on native speaker judgments of a construction in Dutch that functions as a progressive aspectual marker (aan het X zijn, referred to as aan het-construction) and represents an event as in progression at the time of speech. The method was chosen in order to investigate how native speakers assess the scope and conditions of use of a construction which is in the process of grammaticalization. It allows for the inclusion of a large group of participants of different age groups and an investigation of potential age-related differences. The study systematically covers a range of temporal variables that were shown to be relevant in elicitation and corpus-based studies on the grammaticalization of progressive aspect constructions. The results provide insights into the selectional preferences and constraints of the aan het-construction in contemporary Dutch, as judged by native speakers, and the extent to which they correlate with production tasks.

Abstract

This article describes the adjective class in Quechua, countering many previous accounts of the language as a linguistic type with no adjective/noun distinction. It applies a set of common crosslinguistic criteria for distinguishing adjectives to data from several dialects of Ecuadorian Highland Quechua (EHQ), analyzing examples from a natural speech audio/video corpus, speaker intuitions of grammaticality, and controlled elicitation exercises. It is concluded that by virtually any standard Quechua shows clear evidence for a distinct class of attributive noun modifiers, and that in the future Quechua should not be considered a “flexible” noun/adjective language for the purposes of crosslinguistic comparison.

Abstract

The first objective of this study was to compare the brain network engaged by preference classification and the standard grammaticality classification after implicit artificial syntax acquisition by re-analyzing previously reported event-related fMRI data. The results show that preference and grammaticality classification engage virtually identical brain networks, including Broca’s region, consistent with previous behavioral findings. Moreover, the results showed that the effects related to artificial syntax in Broca’s region were essentially the same when masked with variability related to natural syntax processing in the same participants. The second objective was to explore CNTNAP2-related effects in implicit artificial syntax learning by analyzing behavioral and event-related fMRI data from a subsample. The CNTNAP2 gene has been linked to specific language impairment and is controlled by the FOXP2 transcription factor. CNTNAP2 is expressed in language related brain networks in the developing human brain and the FOXP2–CNTNAP2 pathway provides a mechanistic link between clinically distinct syndromes involving disrupted language. Finally, we discuss the implication of taking natural language to be a neurobiological system in terms of bounded recursion and suggest that the left inferior frontal region is a generic on-line sequence processor that unifies information from various sources in an incremental and recursive manner.

Abstract

Earlier work has explored spoken word production during irrelevant background speech such as intelligible and unintelligible word lists. The present study compared how different types of irrelevant background speech (word lists vs. sentences) influenced spoken word production relative to a quiet control condition, and whether the influence depended on the intelligibility of the background speech. Experiment 1 presented native Dutch speakers with Chinese word lists and sentences. Experiment 2 presented a similar group with Dutch word lists and sentences. In both experiments, the lexical selection demands in speech production were manipulated by varying name agreement (high vs. low) of the to-be-named pictures. Results showed that background speech, regardless of its intelligibility, disrupted spoken word production relative to a quiet condition, but no effects of word lists versus sentences in either language were found. Moreover, the disruption by intelligible background speech compared with the quiet condition was eliminated when planning low name agreement pictures. These findings suggest that any speech, even unintelligible speech, interferes with production, which implies that the disruption of spoken word production is mainly phonological in nature. The disruption by intelligible background speech can be reduced or eliminated via top–down attentional engagement.

Abstract

Traditionally, language processing has been thought of in terms of complete processing of the input. In contrast to this, Ferreira and colleagues put forth the idea of good enough processing. The proposal was that during everyday processing, ambiguities remain unresolved, we rely on heuristics instead of full analyses, and we carry out deep processing only if we need to for the task at hand. This idea has gathered substantial traction since its conception. In the current work, I review the papers that have tested the three key claims of good enough processing: ambiguities remain unresolved and underspecified, we use heuristics to parse sentences, and deep processing is only carried out if required by the task. I find mixed evidence for these claims and conclude with an appeal to further refinement of the claims and predictions of the theory.

Abstract

Visual episodic memory encoding was investigated using echoplanar magnetic resonance imaging at 2.0 x 2.0 mm2 resolution and 1.0 mm section thickness, which allows for functional mapping of hippocampal, parahippocampal, and ventral occipital regions with reduced magnetic susceptibility artifact. The memory task was based on 54 image pairs each consisting of a complex visual scene and the face of one of six different photographers. A second group of subjects viewed the same set of images without memory instruction as well as a reversing checkerboard. Apart from visual activation in occipital cortical areas, episodic memory encoding revealed consistent activation in the parahippocampal gyrus but not in the hippocampus proper. This ®nding was most prominently evidenced in sagittal maps covering the right hippocampal formation. Mean activated volumes were 432±293 µl and 259±179 µl for intentional memory encoding and non-instructed viewing, respectively. In contrast, the checkerboard paradigm elicited pure visual activation without parahippocampal involvement.

Abstract

This study addressed the question as to whether grammatical properties of a first language are transferred to a second language. Dutch-English bilinguals classified Dutch words in white print according to their grammatical gender and colored words (i.e. Dutch common and neuter words, and their English translations) according to their color. Both the classifications were made with the same hand (congruent trials) or different hands (incongruent trials). Performance was more erroneous and the error-elated negativity was enhanced on incongruent compared with congruent trials. This effect was independent of the language in which words were presented. These results provide evidence for the fact thatbilinguals may transfer grammatical characteristics oftheir first language to a second language, even when such characteristics are absent in the grammar of the latter.

Abstract

Speech production long avoided electrophysiological experiments due to the suspicion that potential artifacts caused by muscle activity of overt speech may lead to a bad signal-to-noise ratio in the measurements. Therefore, researchers have sought to assess speech production by using indirect speech production tasks, such as tacit or implicit naming, delayed naming, or metalinguistic tasks, such as phoneme monitoring. Covert speech may, however, involve different processes than overt speech production. Recently, overt speech has been investigated using EEG. As the number of papers published is rising steadily, this clearly indicates the increasing interest and demand for overt speech research within the field of cognitive neuroscience of language. Our main goal here is to review all currently available results of overt speech production involving EEG measurements, such as picture naming, Stroop naming, and reading aloud. We conclude that overt speech production can be successfully studied using electrophysiological measures, for instance, event-related brain potentials (ERPs). We will discuss possible relevant components in the ERP waveform of speech production and aim to address the issue of how to interpret the results of ERP research using overt speech, and whether the ERP components in language production are comparable to results from other fields.

Abstract

The methylation of cytosines in CpG dinucleotides is essential for cellular differentiation and the progression of many cancers, and it plays an important role in gametic imprinting. To assess variation and inheritance of genome-wide patterns of DNA methylation simultaneously in humans, we applied reduced representation bisulfite sequencing (RRBS) to somatic DNA from six members of a three-generation family. We observed that 8.1% of heterozygous SNPs are associated with differential methylation in cis, which provides a robust signature for Mendelian transmission and relatedness. The vast majority of differential methylation between homologous chromosomes (>92%) occurs on a particular haplotype as opposed to being associated with the gender of the parent of origin, indicating that genotype affects DNA methylation of far more loci than does gametic imprinting. We found that 75% of genotype-dependent differential methylation events in the family are also seen in unrelated individuals and that overall genotype can explain 80% of the variation in DNA methylation. These events are under-represented in CpG islands, enriched in intergenic regions, and located in regions of low evolutionary conservation. Even though they are generally not in functionally constrained regions, 22% (twice as many as expected by chance) of genes harboring genotype-dependent DNA methylation exhibited allele-specific gene expression as measured by RNA-seq of a lymphoblastoid cell line, indicating that some of these events are associated with gene expression differences. Overall, our results demonstrate that the influence of genotype on patterns of DNA methylation is widespread in the genome and greatly exceeds the influence of imprinting on genome-wide methylation patterns.

Abstract

The neural correlates of sentence production have been mostly studied with constraining task paradigms that introduce artificial task effects. In this study, we aimed to gain a better understanding of syntactic processing in spontaneous production vs. naturalistic comprehension. We extracted word-by-word metrics of phrase-structure building with top-down and bottom-up parsers that make different hypotheses about the timing of structure building. In comprehension, structure building proceeded in an integratory fashion and led to an increase in activity in posterior temporal and inferior frontal areas. In production, structure building was anticipatory and predicted an increase in activity in the inferior frontal gyrus. Newly developed production-specific parsers highlighted the anticipatory and incremental nature of structure building in production, which was confirmed by a converging analysis of the pausing patterns in speech. Overall, the results showed that the unfolding of syntactic processing diverges between speaking and listening.

Abstract

BACKGROUND: Lower cognitive functioning in early childhood has been proposed as a risk factor for depression in later life but its association with depressive symptoms during adolescence has rarely been investigated. Our study examines the relationship between total intelligence quotient (IQ) score at age 8 years, and depressive symptoms at 11, 13, 14 and 17 years. METHOD: Study participants were 5250 children and adolescents from the Avon Longitudinal Study of Parents and their Children (ALSPAC), UK, for whom longitudinal data on depressive symptoms were available. IQ was assessed with the Wechsler Intelligence Scale for Children III, and self-reported depressive symptoms were measured with the Short Mood and Feelings Questionnaire (SMFQ). RESULTS: Multi-level analysis on continuous SMFQ scores showed that IQ at age 8 years was inversely associated with depressive symptoms at age 11 years, but the association changed direction by age 13 and 14 years (age-IQ interaction, p<}0.0001; age squared-IQ interaction, p{<}0.0001) when a higher IQ score was associated with a higher risk of depressive symptoms. This change in IQ effect was also found in relation to pubertal stage (pubertal stage-IQ interaction, 0.00049{

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Abstract

* Ole Goltermann and Gökberk Alagöz contributed equally.
Primate brain evolution has involved prominent expansions of the cerebral cortex, with largest effects observed in the human lineage. Such expansions were accompanied by fine-grained anatomical alterations, including increased cortical folding. However, the molecular bases of evolutionary alterations in human sulcal organization are not yet well understood. Here, we integrated data from recently completed large-scale neuroimaging genetic analyses with annotations of the human genome relevant to various periods and events in our evolutionary history. These analyses identified single-nucleotide polymorphism (SNP) heritability enrichments in fetal brain human-gained enhancer (HGE) elements for a number of sulcal structures, including the central sulcus, which is implicated in human hand dexterity. We zeroed in on a genomic region that harbors DNA variants associated with left central sulcus shape, an HGE element, and genetic loci involved in neurogenesis including ZIC4, to illustrate the value of this approach for probing the complex factors contributing to human sulcal evolution.

Abstract

Background

Schizophrenia is a highly heritable disorder characterized by increased cortical thinning throughout the lifespan. Studies have reported a shared genetic basis between schizophrenia and cortical thickness. However, no genes whose expression is related to abnormal cortical thinning in schizophrenia have been identified.

Methods

We conducted linear mixed models to estimate the rates of accelerated cortical thinning across 68 regions from the Desikan-Killiany atlas in individuals with schizophrenia compared to healthy controls from a large longitudinal sample (NCases = 169 and NControls = 298, aged 16-70 years). We studied the correlation between gene expression data from the Allen Human Brain Atlas and accelerated thinning estimates across cortical regions. We finally explored the functional and genetic underpinnings of the genes most contributing to accelerated thinning.

Results

We described a global pattern of accelerated cortical thinning in individuals with schizophrenia compared to healthy controls. Genes underexpressed in cortical regions exhibiting this accelerated thinning were downregulated in several psychiatric disorders and were enriched for both common and rare disrupting variation for schizophrenia and neurodevelopmental disorders. In contrast, none of these enrichments were observed for baseline cross-sectional cortical thickness differences.

Conclusions

Our findings suggest that accelerated cortical thinning, rather than cortical thickness alone, serves as an informative phenotype for neurodevelopmental disruptions in schizophrenia. We highlight the genetic and transcriptomic correlates of this accelerated cortical thinning, emphasizing the need for future longitudinal studies to elucidate the role of genetic variation and the temporal-spatial dynamics of gene expression in brain development and aging in schizophrenia.

Abstract

When language abilities in aphasia are assessed in clinical and research settings, the standard practice is to examine each language of a multilingual person separately. But many multilingual individuals, with and without aphasia, mix their languages regularly when they communicate with other speakers who share their languages. We applied a novel approach to scoring language production of a multilingual person with aphasia. Our aim was to discover whether the assessment outcome would differ meaningfully when we count accurate responses in only the target language of the assessment session versus when we apply a translanguaging framework, that is, count all accurate responses, regardless of the language in which they were produced. The participant is a Farsi-German-English speaking woman with chronic moderate aphasia. We examined the participant’s performance on two picture-naming tasks, an answering wh-question task, and an elicited narrative task. The results demonstrated that scores in English, the participant’s third-learned and least-impaired language did not differ between the two scoring methods. Performance in German, the participant’s moderately impaired second language benefited from translanguaging-based scoring across the board. In Farsi, her weakest language post-CVA, the participant’s scores were higher under the translanguaging-based scoring approach in some but not all of the tasks. Our findings suggest that whether a translanguaging-based scoring makes a difference in the results obtained depends on relative language abilities and on pragmatic constraints, with additional influence of the linguistic distances between the languages in question.

Abstract

The scavenger receptor C-type lectin (SRCL) is a glycan-binding receptor that has the capacity to mediate endocytosis of glycoproteins carrying terminal Lewis(x) groups (Galβ1-4(Fucα1-3)GlcNAc). A screen for glycoprotein ligands for SRCL using affinity chromatography on immobilized SRCL followed by mass spectrometry-based proteomic analysis revealed that soluble glycoproteins from secondary granules of neutrophils, including lactoferrin and matrix metalloproteinases 8 and 9, are major ligands. Binding competition and surface plasmon resonance analysis showed affinities in the low micromolar range. Comparison of SRCL binding to neutrophil and milk lactoferrin indicates that the binding is dependent on cell-specific glycosylation in the neutrophils, as the milk form of the glycoprotein is a much poorer ligand. Binding to neutrophil glycoproteins is fucose dependent and mass spectrometry-based glycomic analysis of neutrophil and milk lactoferrin was used to establish a correlation between high affinity binding to SRCL and the presence of multiple, clustered terminal Lewis(x) groups on a heterogeneous mixture of branched glycans, some with poly N-acetyllactosamine extensions. The ability of SRCL to mediate uptake of neutrophil lactoferrin was confirmed using fibroblasts transfected with SRCL. The common presence of Lewis(x) groups in granule protein glycans can thus target granule proteins for clearance by SRCL. PCR and immunohistochemical analysis confirms that SRCL is widely expressed on endothelial cells and thus represents a distributed system which could scavenge released neutrophil glycoproteins both locally at sites of inflammation or systemically when they are released in the circulation.

Abstract

In this article, sensory vocabulary relating to color, texture, and other sensory experiences in Yucatec Maya (a language spoken in Mexico) is examined, and its possible relation to material culture practices explored. In Yucatec Maya, some perceptual experience can be expressed in a fine-grained way through a compact one-word adjective. Complex notions can be succinctly expressed by combining roots with a general meaning and applying templates or compounds to those sensory roots. For instance, the root tak’, which means ‘adhere/adherence,’ can be derived to express the notion of ‘dirty red’ chak-tak’-e’en or ‘sticky with an unbounded pattern’ tak’aknak, or the root ts’ap ‘piled-up’ can express ‘several tones of green (e.g. in the forest)’ ya’axts’ape’en or ‘piled-up, known through a tactile experience’ ts’aplemak. The productive nature of this linguistic system seems at first glance to be very well fitted to orient practices relating to the production of local material culture. In examining several hours of video-recorded natural data contrasting work and non-work directed interactions, it emerges that sensory vocabulary is not used for calibrating knowledge but is instead recruited by speakers to achieve vividness in an effort to verbally reproduce the way speakers experience percepts

Abstract

This paper aims at providing a systematic framework for investigating differences in how people point to existing spaces. Pointing is considered according to two conditions: (1) A non-transposed condition where the body of the speaker always constitutes the origo and where the various types of pointing are differentiated by the status of the target and (2) a transposed condition where both the distant figure and the distant ground are identified and their relation specified according to two frames of reference (FoRs): the egocentric FoR (where spatial relationships are coded with respect to the speaker's point of view) and the geocentric FoR (where spatial relationships are coded in relation to external cues in the environment). The preference for one or the other frame of reference not only has consequences for pointing to real spaces but has some resonance in other domains, constraining the production of gesture in these related domains.

Abstract

In previous analyses of the influence of language on cognition, speech has been the main channel examined. In studies conducted among Yucatec Mayas, efforts to determine the preferred frame of reference in use in this community have failed to reach an agreement (Bohnemeyer & Stolz, 2006; Levinson, 2003 vs. Le Guen, 2006, 2009). This paper argues for a multimodal analysis of language that encompasses gesture as well as speech, and shows that the preferred frame of reference in Yucatec Maya is only detectable through the analysis of co-speech gesture and not through speech alone. A series of experiments compares knowledge of the semantics of spatial terms, performance on nonlinguistic tasks and gestures produced by men and women. The results show a striking gender difference in the knowledge of the semantics of spatial terms, but an equal preference for a geocentric frame of reference in nonverbal tasks. In a localization task, participants used a variety of strategies in their speech, but they all exhibited a systematic preference for a geocentric frame of reference in their gestures.

Abstract

During face-to-face communication, one does not only hear speech but also see a speaker's communicative hand movements. It has been shown that such hand gestures play an important role in communication where the two modalities influence each other's interpretation. A gesture typically temporally overlaps with coexpressive speech, but the gesture is often initiated before (but not after) the coexpressive speech. The present ERP study investigated what degree of asynchrony in the speech and gesture onsets are optimal for semantic integration of the concurrent gesture and speech. Videos of a person gesturing were combined with speech segments that were either semantically congruent or incongruent with the gesture. Although gesture and speech always overlapped in time, gesture and speech were presented with three different degrees of asynchrony. In the SOA 0 condition, the gesture onset and the speech onset were simultaneous. In the SOA 160 and 360 conditions, speech was delayed by 160 and 360 msec, respectively. ERPs time locked to speech onset showed a significant difference between semantically congruent versus incongruent gesture–speech combinations on the N400 for the SOA 0 and 160 conditions. No significant difference was found for the SOA 360 condition. These results imply that speech and gesture are integrated most efficiently when the differences in onsets do not exceed a certain time span because of the fact that iconic gestures need speech to be disambiguated in a way relevant to the speech context.

Abstract

Lexical-semantic processing impairments in aphasic patients with left hemisphere lesions and non-aphasic patients with right hemisphere lesions were investigated by recording event-related brain potentials (ERPs) while subjects listened to auditorily presented word pairs. The word pairs consisted of unrelated words, or words that were related in meaning. The related words were either associatively related, e.g. 'bread-butter', or were members of the same semantic category without being associatively related, e.g. 'churchvilla '. The latter relationships are assumed to be more distant than the former ones. The most relevant ERP component in this study is the N400. In elderly control subjects, the N400 amplitude to associatively and semantically related word targets is reduced relative to the N400 elicited by unrelated targets. Compared with this normal N400 effect, the different patient groups showed the following pattern of results: aphasic patients with only minor comprehension deficits (high comprehenders) showed N400 effects of a similar size as the control subjects. In aphasic patients with more severe comprehension deficits (low comprehenders) a clear reduction in the N400 effects was obtained, both for the associative and the semantic word pairs. The patients with right hemisphere lesions showed a normal N400 effect for the associatively related targets, but a trend towards a reduced N400 effect for the semantically related word pairs. A dissociation between the N400 results in the word pair paradigm and P300 results in a classical tone oddball task indicated that the N400 effects were not an aspecific consequence of brain lesion, but were related to the nature of the language comprehension impairment. The conclusions drawn from the ERP results are that comprehension deficits in the aphasic patients are due to an impairment in integrating individual word meanings into an overall meaning representation. Right hemisphere patients are more specifically impaired in the processing of semantically more distant relationships, suggesting the involvement of the right hemisphere in semantically coarse coding.

Abstract

Language is inherently multimodal. In spoken languages, combined spoken and visual signals (e.g., co-speech gestures) are an integral part of linguistic structure and language representation. This requires an extension of the parallel architecture, which needs to include the visual signals concomitant to speech. We present the evidence for the multimodality of language. In addition, we propose that distributional semantics might provide a format for integrating speech and co-speech gestures in a common semantic representation.

Abstract

The present paper seeks to clarify the position of the Maco [wpc] language of the lower Ventuari, Venezuela, since there has been some uncertainty in the literature on this matter. Maco-Ventuari, not to be confused with other languages with a similar name, is so far poorly documented, but the present paper shows that it is nevertheless possible to show that it is a dialect of Piaroa or a language closely related to Piaroa

Abstract

The present paper describes the ongoing project LangDoc to make a bibliography website for linguistic typology, with a near-complete database of references to documents that contain descriptive data on the languages of the world. This is intended to provide typologists with a more precise and comprehensive way to search for information on languages, and for the specific kind information that they are interested in. The annotation scheme devised is a trade-off between annotation effort and search desiderata. The end goal is a website with browse, search, update, new items subscription and download facilities, which can hopefully be enriched by spontaneous collaborative efforts.

Abstract

This article surveys work on Unsupervised Learning of Morphology. We define Unsupervised Learning of Morphology as the problem of inducing a description (of some kind, even if only morpheme segmentation) of how orthographic words are built up given only raw text data of a language. We briefly go through the history and motivation of this problem. Next, over 200 items of work are listed with a brief characterization, and the most important ideas in the field are critically discussed. We summarize the achievements so far and give pointers for future developments.

Abstract

We examined whether Slovak-German bilinguals apply native Slovak phonological and lexical knowledge when segmenting German speech. When Slovaks listen to their native language (Hanulíková, McQueen, & Mitterer, 2010), segmentation is impaired when fixed-stress cues are absent, and, following the Possible-Word Constraint (PWC; Norris, McQueen, Cutler, & Butterfield, 1997), lexical candidates are disfavored if segmentation leads to vowelless residues, unless those residues are existing Slovak words. In the present study, fixed-stress cues on German target words were again absent. Nevertheless, in support of the PWC, both German and Slovak listeners recognized German words (e.g., Rose "rose") faster in syllable contexts (suckrose) than in single- onsonant contexts (krose, trose). But only the Slovak listeners recognized Rose, for example, faster in krose than in trose (k is a Slovak word, t is not). It appears that non-native listeners can suppress native stress segmentation procedures, but that they suffer from prevailing interference from native lexical knowledge

Abstract

Bilinguals are slower when naming a picture in their second language than when naming it in their first language. Although the phenomenon has been frequently replicated, it is not known what causes the delay in the second language. In this article we discuss at what processing stages a delay might arise according to current models of bilingual processing and how the available behavioural and neurocognitive evidence relates to these proposals. Suggested plausible mechanisms, such as frequency or interference effects, are compatible with a naming delay arising at different processing stages. Haemodynamic and electrophysiological data seem to point to a postlexical stage but are still too scarce to support a definite conclusion.

Abstract

Both adults and adolescents often conform their behavior and opinions to peer groups, even when they themselves know better. The current study investigated this phenomenon in 24 groups of 4 children between 4;2 and 4;9 years of age. Children often made their judgments conform to those of 3 peers, who had made obviously erroneous but unanimous public judgments right before them. A follow-up study with 18 groups of 4 children between 4;0 and 4;6 years of age revealed that children did not change their “real” judgment of the situation, but only their public expression of it. Preschool children are subject to peer pressure, indicating sensitivity to peers as a primary social reference group already during the preschool years.

Abstract

Despite the global universality of physical space, different cultural groups vary substantially as to how they memorize it. Although European participants mostly prefer egocentric strategies (“left, right, front, back”) to memorize spatial relations, others use mostly allocentric strategies (“north, south, east, west”). Prior research has shown that some cultures show a general preference to memorize object locations and even also body movements in relation to the larger environment rather than in relation to their own body. Here, we investigate whether this cultural bias also applies to movements specifically directed at the participants' own body, emphasizing the role of ego. We show that even participants with generally allocentric biases preferentially memorize self-directed movements using egocentric spatial strategies. These results demonstrate an intricate system of interacting cultural biases and momentary situational characteristics.

Abstract

We investigate decision-making behaviour in all four non-human great ape species. Apes chose between a safe and a risky option across trials of varying expected values. All species chose the safe option more often with decreasing probability of success. While all species were risk-seeking, orangutans and chimpanzees chose the risky option more often than gorillas and bonobos. Hence all four species' preferences were ordered in a manner consistent with normative dictates of expected value, but varied predictably in their willingness to take risks.

Abstract

The present paper explores cross-cultural variation in spatial cognition by comparing spatial reconstruction tasks by Dutch and Namibian elementary school children. These two communities differ in the way they predominantly express spatial relations in language. Four experiments investigate cognitive strategy preferences across different levels of task-complexity and instruction. Data show a correlation between dominant linguistic spatial frames of reference and performance patterns in non-linguistic spatial memory tasks. This correlation is shown to be stable across an increase of complexity in the spatial array. When instructed to use their respective non-habitual cognitive strategy, participants were not easily able to switch between strategies and their attempts to do so impaired their performance. These results indicate a difference not only in preference but also in competence and suggest that spatial language and non-linguistic preferences and competences in spatial cognition are systematically aligned across human populations.

Abstract

Background
Autism and different neurodevelopmental conditions frequently co-occur, as do their symptoms at sub-diagnostic threshold levels. Overlapping traits and shared genetic liability are potential explanations.

Methods
In the population-based Norwegian Mother, Father, and Child Cohort study (MoBa), we leverage item-level data to explore the phenotypic factor structure and genetic architecture underlying neurodevelopmental traits at age 3 years (N = 41,708–58,630) using maternal reports on 76 items assessing children’s motor and language development, social functioning, communication, attention, activity regulation, and flexibility of behaviors and interests.

Results
We identified 11 latent factors at the phenotypic level. These factors showed associations with diagnoses of autism and other neurodevelopmental conditions. Most shared genetic liabilities with autism, ADHD, and/or schizophrenia. Item-level GWAS revealed trait-specific genetic correlations with autism (items rg range = − 0.27–0.78), ADHD (items rg range = − 0.40–1), and schizophrenia (items rg range = − 0.24–0.34). We find little evidence of common genetic liability across all neurodevelopmental traits but more so for several genetic factors across more specific areas of neurodevelopment, particularly social and communication traits. Some of these factors, such as one capturing prosocial behavior, overlap with factors found in the phenotypic analyses. Other areas, such as motor development, seemed to have more heterogenous etiology, with specific traits showing a less consistent pattern of genetic correlations with each other.

Conclusions
These exploratory findings emphasize the etiological complexity of neurodevelopmental traits at this early age. In particular, diverse associations with neurodevelopmental conditions and genetic heterogeneity could inform follow-up work to identify shared and differentiating factors in the early manifestations of neurodevelopmental traits and their relation to autism and other neurodevelopmental conditions. This in turn could have implications for clinical screening tools and programs.

Abstract

Rare disruptions of the transcription factor FOXP1 are implicated in a human neurodevelopmental disorder characterized by autism and/or intellectual disability with prominent problems in speech and language abilities. Avian orthologues of this transcription factor are evolutionarily conserved and highly expressed in specific regions of songbird brains, including areas associated with vocal production learning and auditory perception. Here, we investigated possible contributions of FoxP1 to song discrimination and auditory perception in juvenile and adult female zebra finches. They received lentiviral knockdowns of FoxP1 in one of two brain areas involved in auditory stimulus processing, HVC (proper name) or CMM (caudomedial mesopallium). Ninety-six females, distributed over different experimental and control groups were trained to discriminate between two stimulus songs in an operant Go/Nogo paradigm and subsequently tested with an array of stimuli. This made it possible to assess how well they recognized and categorized altered versions of training stimuli and whether localized FoxP1 knockdowns affected the role of different features during discrimination and categorization of song. Although FoxP1 expression was significantly reduced by the knockdowns, neither discrimination of the stimulus songs nor categorization of songs modified in pitch, sequential order of syllables or by reversed playback were affected. Subsequently, we analyzed the full dataset to assess the impact of the different stimulus manipulations for cue weighing in song discrimination. Our findings show that zebra finches rely on multiple parameters for song discrimination, but with relatively more prominent roles for spectral parameters and syllable sequencing as cues for song discrimination.

NEW & NOTEWORTHY In humans, mutations of the transcription factor FoxP1 are implicated in speech and language problems. In songbirds, FoxP1 has been linked to male song learning and female preference strength. We found that FoxP1 knockdowns in female HVC and caudomedial mesopallium (CMM) did not alter song discrimination or categorization based on spectral and temporal information. However, this large dataset allowed to validate different cue weights for spectral over temporal information for song recognition.

Abstract

While rhythm can facilitate and enhance many aspects of behavior, its evolutionary trajectory in vocal communication systems remains enigmatic. We can trace evolutionary processes by investigating rhythmic abilities in different species, but research to date has largely focused on songbirds and primates. We present evidence that cetaceans—whales, dolphins, and porpoises—are a missing piece of the puzzle for understanding why rhythm evolved in vocal communication systems. Cetaceans not only produce rhythmic vocalizations but also exhibit behaviors known or thought to play a role in the evolution of different features of rhythm. These behaviors include vocal learning abilities, advanced breathing control, sexually selected vocal displays, prolonged mother–infant bonds, and behavioral synchronization. The untapped comparative potential of cetaceans is further enhanced by high interspecific diversity, which generates natural ranges of vocal and social complexity for investigating various evolutionary hypotheses. We show that rhythm (particularly isochronous rhythm, when sounds are equally spaced in time) is prevalent in cetacean vocalizations but is used in different contexts by baleen and toothed whales. We also highlight key questions and research areas that will enhance understanding of vocal rhythms across taxa. By coupling an infraorder-level taxonomic assessment of vocal rhythm production with comparisons to other species, we illustrate how broadly comparative research can contribute to a more nuanced understanding of the prevalence, evolution, and possible functions of rhythm in animal communication.

Abstract

Recent work demonstrates that learning to understand noise-vocoded (NV) speech alters sublexical perceptual processes but is enhanced by the simultaneous provision of higher-level, phonological, but not lexical content (Hervais-Adelman, Davis, Johnsrude, & Carlyon, 2008), consistent with top-down learning (Davis, Johnsrude, Hervais-Adelman, Taylor, & McGettigan, 2005; Hervais-Adelman et al., 2008). Here, we investigate whether training listeners with specific types of NV speech improves intelligibility of vocoded speech with different acoustic characteristics. Transfer of perceptual learning would provide evidence for abstraction from variable properties of the speech input. In Experiment 1, we demonstrate that learning of NV speech in one frequency region generalizes to an untrained frequency region. In Experiment 2, we assessed generalization among three carrier signals used to create NV speech: noise bands, pulse trains, and sine waves. Stimuli created using these three carriers possess the same slow, time-varying amplitude information and are equated for naive intelligibility but differ in their temporal fine structure. Perceptual learning generalized partially, but not completely, among different carrier signals. These results delimit the functional and neural locus of perceptual learning of vocoded speech. Generalization across frequency regions suggests that learning occurs at a stage of processing at which some abstraction from the physical signal has occurred, while incomplete transfer across carriers indicates that learning occurs at a stage of processing that is sensitive to acoustic features critical for speech perception (e.g., noise, periodicity).

Abstract

In this review we will focus on delineating the neural substrates of the executive control of language in the bilingual brain, based on the existing neuroimaging, intracranial, transcranial magnetic stimulation, and neuropsychological evidence. We will also offer insights from ongoing brain-imaging studies into the development of expertise in multilingual language control. We will concentrate specifically on evidence regarding how the brain selects and controls languages for comprehension and production. This question has been addressed in a number of ways and using various tasks, including language switching during production or perception, translation, and interpretation. We will attempt to synthesize existing evidence in order to bring to light the neural substrates that are crucial to executive control of language.

Abstract

Imagine describing the particular characteristics of the hue of a flower, or the quality of its scent, or the texture of its petal. Introspection suggests the expression of such sensory experiences in words is something quite different than the task of naming artifacts. The particular challenges in the linguistic encoding of sensorial experiences pose questions regarding how languages manage semantic gaps and “ineffability.” That is, what strategies do speakers have available to manage phenomena or domains of experience that are inexpressible or difficult to express in their language? This article considers this issue with regard to color in Umpila, an Aboriginal Australian language of the Paman family. The investigation of color naming and ineffability in Umpila reveals rich associations and mappings between color and visual perceptual qualities more generally, categorization of the human social world, and the environment. “Gaps” in the color system are filled or supported by associations with two of the most linguistically and culturally salient domains for Umpila - kinship and the environment

Abstract

Using language requires access to domain-specific linguistic representations, but also draws on domain-general cognitive skills. A key issue in current psycholinguistics is to situate linguistic processing in the network of human cognitive abilities. Here, we focused on spoken word recognition and used an individual differences approach to examine the links of scores in word recognition tasks with scores on tasks capturing effects of linguistic experience, general processing speed, working memory, and non-verbal reasoning. 281 young native speakers of Dutch completed an extensive test battery assessing these cognitive skills. We used psychometric network analysis to map out the direct links between the scores, that is, the unique variance between pairs of scores, controlling for variance shared with the other scores. The analysis revealed direct links between word recognition skills and processing speed. We discuss the implications of these results and the potential of psychometric network analysis for studying language processing and its embedding in the broader cognitive system.

Abstract

We introduce the Individual Differences in Language Skills (IDLaS-NL) web platform, which enables users to run studies on individual differences in Dutch language skills via the internet. IDLaS-NL consists of 35 behavioral tests, previously validated in participants aged between 18 and 30 years. The platform provides an intuitive graphical interface for users to select the tests they wish to include in their research, to divide these tests into different sessions and to determine their order. Moreover, for standardized administration the platform
provides an application (an emulated browser) wherein the tests are run. Results can be retrieved by mouse click in the graphical interface and are provided as CSV-file output via email. Similarly, the graphical interface enables researchers to modify and delete their study configurations. IDLaS-NL is intended for researchers, clinicians, educators and in general anyone conducting fundaental research into language and general cognitive skills; it is not intended for diagnostic purposes. All platform services are free of charge. Here, we provide a
description of its workings as well as instructions for using the platform. The IDLaS-NL platform can be accessed at www.mpi.nl/idlas-nl.

Abstract

Mimicry has been observed regarding a range of nonverbal behaviors, but only recently have researchers started to investigate mimicry in co-speech gestures. These gestures are considered to be crucially different from other aspects of nonverbal behavior due to their tight link with speech. This study provides evidence of mimicry in co-speech gestures in face-to-face dialogue, the most common forum of everyday talk. In addition, it offers an analysis of the functions that mimicked co-speech gestures fulfill in the collaborative process of creating a mutually shared understanding of referring expressions. The implications bear on theories of gesture production, research on grounding, and the mechanisms underlying behavioral mimicry.

Abstract

There is evidence that co-speech gestures communicate information to addressees and that they are often communicatively intended. However, we still know comparatively little about the role of gestures in the actual process of communication. The present study offers a systematic investigation of speakers’ gesture use before and after addressee feedback. The findings show that when speakers responded to addressees’ feedback gesture rate remained constant when this feedback encouraged clarification, elaboration or correction. However, speakers gestured proportionally less often after feedback when providing confirmatory responses. That is, speakers may not be drawing on gesture in response to addressee feedback per se, but particularly with responses that enhance addressees’ understanding. Further, the large majority of speakers’ gestures changed in their form. They tended to be more precise, larger, or more visually prominent after feedback. Some changes in gesture viewpoint were also observed. In addition, we found that speakers used deixis in speech and gaze to increase the salience of gestures occurring in response to feedback. Speakers appear to conceive of gesture as a useful modality in redesigning utterances to make them more accessible to addressees. The findings further our understanding of recipient design and co-speech gestures in face-to-face dialogue.
Highlights

► Gesture rate remains constant in response to addressee feedback when the response aims to correct or clarify understanding. ► But gesture rate decreases when speakers provide confirmatory responses to feedback signalling correct understanding. ► Gestures are more communicative in response to addressee feedback, particularly in terms of precision, size and visual prominence. ► Speakers make gestures in response to addressee feedback more salient by using deictic markers in speech and gaze.

Abstract

This paper describes a computerized alternative to glottochronology for estimating elapsed time since parent languages diverged into daughter languages. The method, developed by the Automated Similarity Judgment Program (ASJP) consortium, is different from glottochronology in four major respects: (1) it is automated and thus is more objective, (2) it applies a uniform analytical approach to a single database of worldwide languages, (3) it is based on lexical similarity as determined from Levenshtein (edit) distances rather than on cognate percentages, and (4) it provides a formula for date calculation that mathematically recognizes the lexical heterogeneity of individual languages, including parent languages just before their breakup into daughter languages. Automated judgments of lexical similarity for groups of related languages are calibrated with historical, epigraphic, and archaeological divergence dates for 52 language groups. The discrepancies between estimated and calibration dates are found to be on average 29% as large as the estimated dates themselves, a figure that does not differ significantly among language families. As a resource for further research that may require dates of known level of accuracy, we offer a list of ASJP time depths for nearly all the world’s recognized language families and for many subfamilies.

Abstract

Objective: Attention deficit hyperactivity disorder (ADHD) is a highly heritable disorder. The NOS1 gene encoding nitric oxide synthase is a candidate gene for ADHD and has been previously linked with impulsivity. In the present study, the authors investigated the effect of a functional variable number of tandem repeats (VNTR) polymorphism in NOS1 (NOS1 exon 1f-VNTR) on the processing of rewards, one of the cognitive deficits in ADHD. Method: A sample of 136 participants, consisting of 87 adult ADHD patients and 49 healthy comparison subjects, completed a reward-related impulsivity task. A total of 104 participants also underwent functional magnetic resonance imaging during a reward anticipation task. The effect of the NOS1 exon 1f-VNTR genotype on reward-related impulsivity and reward-related ventral striatal activity was examined. Results: ADHD patients had higher impulsivity scores and lower ventral striatal activity than healthy comparison subjects. The association between the short allele and increased impulsivity was confirmed. However, independent of disease status, homozygous carriers of the short allele of NOS1, the ADHD risk genotype, demonstrated higher ventral striatal activity than carriers of the other NOS1 VNTR genotypes. Conclusions: The authors suggest that the NOS1 genotype influences impulsivity and its relation with ADHD is mediated through effects on this behavioral trait. Increased ventral striatal activity related to NOS1 may be compensatory for effects in other brain regions.

Abstract

Stroke is common, and its consequent brain damage can cause various cognitive impairments. Associations between where and how much brain lesion damage a patient has suffered, and the particular impairments that injury has caused (lesion-symptom associations) offer potentially compelling insights into how the brain implements cognition.1 A better understanding of those associations can also fill a gap in current stroke medicine by helping us to predict how individual patients might recover from post-stroke impairments.2 Most recent work in this area employs machine learning models trained with data from stroke patients whose mid-to-long-term outcomes are known.2-4 These machine learning models are tested by predicting new outcomes—typically scores on standardized tests of post-stroke impairment—for patients whose data were not used to train the model. Traditionally, these validation results have been shared in peer-reviewed publications describing the model and its training. But recently, and for the first time in this field (as far as we know), one of these pre-trained models has been made public—The Disconnectome Symptom Discoverer model (DSD) which draws its predictors from structural disconnection information inferred from stroke patients’ brain MRI.5

Here, we test the DSD model on wholly independent data, never seen by the model authors, before they published it. Specifically, we test whether its predictive performance is just as accurate as (i.e. not significantly worse than) that reported in the original (Washington University) dataset, when predicting new patients’ outcomes at a similar time post-stroke (∼1 year post-stroke) and also in another independent sample tested later (5+ years) post-stroke. A failure to generalize the DSD model occurs if it performs significantly better in the Washington data than in our data from patients tested at a similar time point (∼1 year post-stroke). In addition, a significant decrease in predictive performance for the more chronic sample would be evidence that lesion-symptom associations differ at ∼1 year post-stroke and >5 years post-stroke.

Abstract

Common genetic variation has been associated with multiple symptoms in Autism Spectrum Disorder (ASD). However, our knowledge of shared genetic factor structures contributing to this highly heterogeneous neurodevelopmental condition is limited. Here, we developed a structural equation modelling framework to directly model genome-wide covariance across core and non-core ASD phenotypes, studying autistic individuals of European descent using a case-only design. We identified three independent genetic factors most strongly linked to language/cognition, behaviour and motor development, respectively, when studying a population-representative sample (N=5,331). These analyses revealed novel associations. For example, developmental delay in acquiring personal-social skills was inversely related to language, while developmental motor delay was linked to self-injurious behaviour. We largely confirmed the three-factorial structure in independent ASD-simplex families (N=1,946), but uncovered simplex-specific genetic overlap between behaviour and language phenotypes. Thus, the common genetic architecture in ASD is multi-dimensional and contributes, in combination with ascertainment-specific patterns, to phenotypic heterogeneity.

Abstract

We investigated reasoning about spatial relational similarity in three great ape species: chimpanzees, bonobos, and orangutans. Apes were presented with three spatial mapping tasks in which they were required to find a reward in an array of three cups, after observing a reward being hidden in a different array of three cups. To obtain a food reward, apes needed to choose the cup that was in the same relative position (i.e., on the left) as the baited cup in the other array. The three tasks differed in the constellation of the two arrays. In Experiment 1, the arrays were placed next to each other, forming a line. In Experiment 2, the positioning of the two arrays varied each trial, being placed either one behind the other in two rows, or next to each other, forming a line. Finally, in Experiment 3, the two arrays were always positioned one behind the other in two rows, but misaligned. Results suggested that apes compared the two arrays and recognized that they were similar in some way. However, we believe that instead of mapping the left–left, middle–middle, and right–right cups from each array, they mapped the cups that shared the most similar relations to nearby landmarks (table’s visual boundaries).