Publications

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

Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption, we performed a population-based genome-wide association study of 'age at first tooth' and 'number of teeth' using 5998 and 6609 individuals, respectively, from the Avon Longitudinal Study of Parents and Children (ALSPAC) and 5403 individuals from the 1966 Northern Finland Birth Cohort (NFBC1966). We tested 2 446 724 SNPs imputed in both studies. Analyses were controlled for the effect of gestational age, sex and age of measurement. Results from the two studies were combined using fixed effects inverse variance meta-analysis. We identified a total of 15 independent loci, with 10 loci reaching genome-wide significance (P < 5 × 10(-8)) for 'age at first tooth' and 11 loci for 'number of teeth'. Together, these associations explain 6.06% of the variation in 'age of first tooth' and 4.76% of the variation in 'number of teeth'. The identified loci included eight previously unidentified loci, some containing genes known to play a role in tooth and other developmental pathways, including an SNP in the protein-coding region of BMP4 (rs17563, P = 9.080 × 10(-17)). Three of these loci, containing the genes HMGA2, AJUBA and ADK, also showed evidence of association with craniofacial distances, particularly those indexing facial width. Our results suggest that the genome-wide association approach is a powerful strategy for detecting variants involved in tooth eruption, and potentially craniofacial growth and more generally organ development.

Abstract

This article focuses on “perceptual syntax”, the faculty to process patterns in sensory stimuli. Specifically, this study addresses the ability to perceptually connect elements that are: (1) of the same sensory modality; (2) spatially and temporally non-adjacent; or (3) within multiple sensorial domains. The underlying hypothesis is that in each animal species, this core cognitive faculty enables the perception of the environment-world (Umwelt) and consequently the possibility to survive within it. Importantly, it is suggested that in doing so, perceptual syntax determines (and guides) each species’ ontological access to the world. In support of this hypothesis, research on perceptual syntax in nonverbal individuals (preverbal infants and nonhuman animals) and humans is reviewed. This comparative approach results in theoretical remarks on human cognition and ontology, pointing to the conclusion that the ability to map cross-modal connections through verbal language is what makes humans’ form of life species-typical.

Abstract

The aim of this paper is to help refine the definition of humans as “linguistic animals” in light of a comparative approach on nonhuman animals’ cognitive systems. As Uexküll & Kriszat (1934/1992) have theorized, the epistemic access to each species-specific environment (Umwelt) is driven by different biocognitive processes. Within this conceptual framework, I identify the salient cognitive process that distinguishes each species typical perception of the world as the faculty of language meant in the following operational definition: the ability to connect different elements according to structural rules. In order to draw some conclusions about humans’ specific faculty of language, I review different empirical studies on nonhuman animals’ ability to recognize formal patterns of tokens. I suggest that what differentiates human language from other animals’ cognitive systems is the ability to categorize the units of a pattern, going beyond its perceptual aspects. In fact, humans are the only species known to be able to combine semantic units within a network of combinatorial logical relationships (Deacon 1997) that can be linked to the state of affairs in the external world (Wittgenstein 1922). I assume that this ability is the core cognitive process underlying a) the capacity to speak (or to reason) in verbal propositions and b) the general human faculty of language expressed, for instance, in the ability to draw visual conceptual maps or to compute mathematical expressions. In light of these considerations, I conclude providing some research questions that could lead to a more detailed comparative exploration of the faculty of language.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is a common heritable disorder with a childhood onset. Molecular genetic studies of ADHD have previously focused on examining the roles of specific candidate genes, primarily those involved in dopaminergic pathways. We have performed the first systematic genomewide linkage scan for loci influencing ADHD in 126 affected sib pairs, using a ∼10-cM grid of microsatellite markers. Allele-sharing linkage methods enabled us to exclude any loci with a λs of ⩾3 from 96% of the genome and those with a λs of ⩾2.5 from 91%, indicating that there is unlikely to be a major gene involved in ADHD susceptibility in our sample. Under a strict diagnostic scheme we could exclude all screened regions of the X chromosome for a locus-specific λs of ⩾2 in brother-brother pairs, demonstrating that the excess of affected males with ADHD is probably not attributable to a major X-linked effect. Qualitative trait maximum LOD score analyses pointed to a number of chromosomal sites that may contain genetic risk factors of moderate effect. None exceeded genomewide significance thresholds, but LOD scores were >1.5 for regions on 5p12, 10q26, 12q23, and 16p13. Quantitative-trait analysis of ADHD symptom counts implicated a region on 12p13 (maximum LOD 2.6) that also yielded a LOD >1 when qualitative methods were used. A survey of regions containing 36 genes that have been proposed as candidates for ADHD indicated that 29 of these genes, including DRD4 and DAT1, could be excluded for a λs of 2. Only three of the candidates—DRD5, 5HTT, and CALCYON—coincided with sites of positive linkage identified by our screen. Two of the regions highlighted in the present study, 2q24 and 16p13, coincided with the top linkage peaks reported by a recent genome-scan study of autistic sib pairs.

Abstract

State-of-the-art DNA sequencing is providing ever more detailed insights into the genomes of humans, extant apes, and even extinct hominins (1–3), offering unprecedented opportunities to uncover the molecular variants that make us human. A common assumption is that the emergence of behaviorally modern humans after 200,000 years ago required—and followed—a specific biological change triggered by one or more genetic mutations. For example, Klein has argued that the dawn of human culture stemmed from a single genetic change that “fostered the uniquely modern ability to adapt to a remarkable range of natural and social circumstance” (4). But are evolutionary changes in our genome a cause or a consequence of cultural innovation (see the figure)?

Abstract

Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders. Since the first documented cases at the beginning of the last century, it has become increasingly apparent that the reading problems of people with dyslexia form part of a heritable neurobiological syndrome. As for most cognitive and behavioural traits, phenotypic definition is fraught with difficulties and the genetic basis is complex, making the isolation of genetic risk factors a formidable challenge. Against such a background, it is notable that several recent studies have reported the localization of genes that influence dyslexia and other language-related traits. These investigations exploit novel research approaches that are relevant to many areas of human neurogenetics.

Abstract

Developmental dyslexia is defined as a specific and significant impairment in reading ability that cannot be explained by deficits in intelligence, learning opportunity, motivation or sensory acuity. It is one of the most frequently diagnosed disorders in childhood, representing a major educational and social problem. It is well established that dyslexia is a significantly heritable trait with a neurobiological basis. The etiological mechanisms remain elusive, however, despite being the focus of intensive multidisciplinary research. All attempts to map quantitative-trait loci (QTLs) influencing dyslexia susceptibility have targeted specific chromosomal regions, so that inferences regarding genetic etiology have been made on the basis of very limited information. Here we present the first two complete QTL-based genome-wide scans for this trait, in large samples of families from the United Kingdom and United States. Using single-point analysis, linkage to marker D18S53 was independently identified as being one of the most significant results of the genome in each scan (P< or =0.0004 for single word-reading ability in each family sample). Multipoint analysis gave increased evidence of 18p11.2 linkage for single-word reading, yielding top empirical P values of 0.00001 (UK) and 0.0004 (US). Measures related to phonological and orthographic processing also showed linkage at this locus. We replicated linkage to 18p11.2 in a third independent sample of families (from the UK), in which the strongest evidence came from a phoneme-awareness measure (most significant P value=0.00004). A combined analysis of all UK families confirmed that this newly discovered 18p QTL is probably a general risk factor for dyslexia, influencing several reading-related processes. This is the first report of QTL-based genome-wide scanning for a human cognitive trait.

Abstract

This chapter highlights the research in isolating genetic factors underlying specific language impairment (SLI), or developmental dysphasia, which exploits newly developed genotyping technology, novel statistical methodology, and DNA sequence data generated by the Human Genome Project. The author begins with an overview of results from family, twin, and adoption studies supporting genetic involvement and then goes on to outline progress in a number of genetic mapping efforts that have been recently completed or are currently under way. It has been possible for genetic researchers to pinpoint the specific mutation responsible for some speech and language disorders, providing an example of how the availability of human genomic sequence data can greatly accelerate the pace of disease gene discovery. Finally, the author discusses future prospects on how molecular genetics may offer new insight into the etiology underlying speech and language disorders, leading to improvements in diagnosis and treatment.

Abstract

The testimony of others and direct experience play a major role in the development of children's knowledge. Children actively use questions to seek others' testimony and explore the environment. It is unclear though whether children distinguish when it is better to ask from when it is better to try to find an answer by oneself. In 2 experiments, we examined the ability of 4- and 6-year-olds to select between looking and asking to determine visible and invisible properties of entities (e.g., hair color vs. knowledge of French). All children chose to look more often for visible than invisible properties. However, only 6-year-olds chose above chance to look for visible properties and to ask for invisible properties. Four-year-olds showed a preference for looking in one experiment and asking in the other. The results suggest substantial development in the efficacy of children's learning in early childhood.

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 ethnographic literature has sometimes described parts of the northwest Amazon as areas of shared culture across linguistic groups. This paper illustrates how a principle of semantic transparency across languages is a key means of establishing elements of a common regional culture through practices like the calquing of ethnonyms and toponyms so that they are semantically, but not phonologically, equivalent across languages. It places the upper Rio Negro area of the northwest Amazon in a general discussion of cross-linguistic naming practices in South America and considers the extent to which a preference for semantic transparency can be linked to cases of widespread cultural ‘calquing’, in which culturally-important meanings are kept similar across different linguistic systems. It also addresses the principle of semantic transparency beyond specific referential phrases and into larger discourse structures. It concludes that an attention to semiotic practices in multilingual settings can provide new and more complex ways of thinking about the idea of shared culture.

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

Genomewide quantitative-trait locus (QTL) linkage analysis was performed using a continuous measure of relative hand skill (PegQ) in a sample of 195 reading-disabled sibling pairs from the United Kingdom. This was the first genomewide screen for any measure related to handedness. The mean PegQ in the sample was equivalent to that of normative data, and PegQ was not correlated with tests of reading ability (correlations between −0.13 and 0.05). Relative hand skill could therefore be considered normal within the sample. A QTL on chromosome 2p11.2-12 yielded strong evidence for linkage to PegQ (empirical P=.00007), and another suggestive QTL on 17p11-q23 was also identified (empirical P=.002). The 2p11.2-12 locus was further analyzed in an independent sample of 143 reading-disabled sibling pairs, and this analysis yielded an empirical P=.13. Relative hand skill therefore is probably a complex multifactorial phenotype with a heterogeneous background, but nevertheless is amenable to QTL-based gene-mapping approaches.

Abstract

A locus on chromosome 2p12-16 has been implicated in dyslexia susceptibility by two independent linkage studies, including our own study of 119 nuclear twin-based families, each with at least one reading-disabled child. Nonetheless, no variant of any gene has been reported to show association with dyslexia, and no consistent clinical evidence exists to identify candidate genes with any strong a priori logic. We used 21 microsatellite markers spanning 2p12-16 to refine our 1-LOD unit linkage support interval to 12cM between D2S337 and D2S286. Then, in quantitative association analysis, two microsatellites yielded P values<0.05 across a range of reading-related measures (D2S2378 and D2S2114). The exon/intron borders of two positional candidate genes within the region were characterized, and the exons were screened for polymorphisms. The genes were Semaphorin4F (SEMA4F), which encodes a protein involved in axonal growth cone guidance, and OTX1, encoding a homeodomain transcription factor involved in forebrain development. Two non-synonymous single nucleotide polymorphisms were found in SEMA4F, each with a heterozygosity of 0.03. One intronic single nucleotide polymorphism between exons 12 and 13 of SEMA4F was tested for quantitative association, but no significant association was found. Only one single nucleotide polymorphism was found in OTX1, which was exonic but silent. Our data therefore suggest that linkage with reading disability at 2p12-16 is not caused by coding variants of SEMA4F or OTX1. Our study outlines the approach necessary for the identification of genetic variants causing dyslexia susceptibility in an epidemiological population of dyslexics.

Abstract

Dyslexia, a disorder of reading and spelling, is a heterogeneous neurological syndrome with a complex genetic and environmental aetiology. People with dyslexia differ in their individual profiles across a range of cognitive, physiological, and behavioural measures related to reading disability. Some or all of the subtypes of dyslexia might have partly or wholly distinct genetic causes. An understanding of the role of genetics in dyslexia could help to diagnose and treat susceptible children more effectively and rapidly than is currently possible and in ways that account for their individual disabilities. This knowledge will also give new insights into the neurobiology of reading and language cognition. Genetic linkage analysis has identified regions of the genome that might harbour inherited variants that cause reading disability. In particular, loci on chromosomes 6 and 18 have shown strong and replicable effects on reading abilities. These genomic regions contain tens or hundreds of candidate genes, and studies aimed at the identification of the specific causal genetic variants are underway.

Abstract

Theeffects of spatial filtering in functional magnetic resonance imaging were investigated by reevaluating the data of a previous study of episodic memory encoding at 2 × 2 × 4-mm3 resolution with use of a SPM99 analysis involving a Gaussian kernel of 8-mm full width at half maximum. In addition, a multisubject analysis of activated regions was performed by normalizing the functional images to an approximate Talairach brain atlas. In individual subjects, spatial filtering merged activations in anatomically separated brain regions. Moreover, small foci of activated pixels which originated from veins became blurred and hence indistinguishable from parenchymal responses. The multisubject analysis resulted in activation of the hippocampus proper, a finding which could not be confirmed by the activation maps obtained at high resolution. It is concluded that the validity of multisubject fMRI analyses can be considerably improved by first analyzing individual data sets at optimum resolution to assess the effects of spatial filtering and minimize the risk of signal contamination by macroscopically visible vessels.

Abstract

In list learning paradigms with free recall, written recall has been found to be less susceptible to intrusions of related concepts than spoken recall when the list items had been visually presented. This effect has been ascribed to the use of stored orthographic representations from the study phase during written recall (Kellogg, 2001). In other memory retrieval paradigms, by contrast, either better recall for modality-congruent items or an input-independent writing superiority effect have been found (Grabowski, 2005). In a series of four experiments using a paired associate learning paradigm we tested (a) whether output modality effects on verbal recall can be replicated in a paradigm that does not involve the rejection of semantically related intrusion words, (b) whether a possible superior performance for written recall was due to a slower response onset for writing as compared to speaking in immediate recall, and (c) whether the performance in paired associate word recall was correlated with performance in an additional episodic memory recall task. We observed better written recall in the first half of the recall phase, irrespective of the modality in which the material was presented upon encoding. An explanation for this effect based on longer response latencies for writing and hence more time for memory retrieval could be ruled out by showing that the effect persisted in delayed response versions of the task. Although there was some evidence that stored additional episodic information may contribute to the successful retrieval of associate words, this evidence was only found in the immediate response experiments and hence is most likely independent from the observed output modality effect. In sum, our results from a paired associate learning paradigm suggest that superior performance for written vs. spoken recall cannot be (solely) explained in terms of additional access to stored orthographic representations from the encoding phase. Our findings rather suggest a general writing-superiority effect at the time of memory retrieval.

Abstract

The present study investigated whether Short Message Service shortcuts are more difficult to process in sentence context than the spelled-out word equivalent and, if so, how any additional processing difficulty arises. Twenty-four student participants read 37 Short Message Service shortcuts and word equivalents embedded in semantically plausible and implausible contexts (e.g., He left/drank u/you a note) while their eye movements were recorded. There were effects of plausibility and spelling on early measures of processing difficulty (first fixation durations, gaze durations, skipping, and first-pass regression rates for the targets), but there were no interactions of plausibility and spelling. Late measures of processing difficulty (second run gaze duration and total fixation duration) were only affected by plausibility but not by spelling. These results suggest that shortcuts are harder to recognize, but that, once recognized, they are integrated into the sentence context as easily as ordinary words.

Abstract

The Perceptual Loop Theory of speech monitoring assumes that speakers routinely inspect their inner speech. In contrast, Huettig and Hartsuiker (2010) observed that listening to one’s own speech during language production drives eye-movements to phonologically related printed words with a similar time-course as listening to someone else’s speech does in speech perception experiments. This suggests that speakers listen to their own overt speech, but not to their inner speech. However, a direct comparison between production and perception with the same stimuli and participants is lacking so far. The current printed word eye-tracking experiment therefore used a within-subjects design, combining production and perception. Displays showed four words, of which one, the target, either had to be named or was presented auditorily. Accompanying words were phonologically related, semantically related, or unrelated to the target. There were small increases in looks to phonological competitors with a similar time-course in both production and perception. Phonological effects in perception however lasted longer and had a much larger magnitude. We conjecture that this difference is related to a difference in predictability of one’s own and someone else’s speech, which in turn has consequences for lexical competition in other-perception and possibly suppression of activation in self-perception.

Abstract

Our species displays remarkable linguistic diversity. While the uneven distribution of this diversity demands explanation, the drivers of these patterns have not been conclusively determined. We address this issue in two steps. First, we review previous empirical studies that have suggested environmental, geographical, and socio-cultural drivers of linguistic diversification. However, contradictory results and methodological variation make it difficult to draw general conclusions. Second, we outline a program for future research. We suggest that future analyses should account for interactions among causal factors, lack of spatial and phylogenetic independence of data, and transitory patterns. Recent analytical advances in biogeography and evolutionary biology, such as simulation modeling of diversity patterns, hold promise for testing four key mechanisms of language diversification proposed here: neutral change, population movement, contact, and selection. Future modeling approaches should also evaluate how the outcomes of these processes are influenced by demography, environmental heterogeneity, and time.

Abstract

We propose a Random-Forest based sign language identification system. The system uses low-level visual features and is based on the hypothesis that sign languages have varying distributions of phonemes (hand-shapes, locations and movements). We evaluated the system on two sign languages -- British SL and Greek SL, both taken from a publicly available corpus, called Dicta Sign Corpus. Achieved average F1 scores are about 95% - indicating that sign languages can be identified with high accuracy using only low-level visual features.

Abstract

We present a vision-based method for signer diarization -- the task of automatically determining "who signed when?" in a video. This task has similar motivations and applications as speaker diarization but has received little attention in the literature. In this paper, we motivate the problem and propose a method for solving it. The method is based on the hypothesis that signers make more movements than their interlocutors. Experiments on four videos (a total of 1.4 hours and each consisting of two signers) show the applicability of the method. The best diarization error rate (DER) obtained is 0.16.

Abstract

This paper presents a Native Language Identification (NLI) system based on TF-IDF weighting schemes and using linear classifiers - support vector machines, logistic regressions and perceptrons. The system was one of the participants of the 2013 NLI Shared Task in the closed-training track, achieving 0.814 overall accuracy for a set of 11 native languages. This accuracy was only 2.2 percentage points lower than the winner's performance. Furthermore, with subsequent evaluations using 10-fold cross-validation (as given by the organizers) on the combined training and development data, the best average accuracy obtained is 0.8455 and the features that contributed to this accuracy are the TF-IDF of the combined unigrams and bigrams of words.

Abstract

We present and solve the speaker diarization problem in a novel way. We hypothesize that the gesturer is the speaker and that identifying the gesturer can be taken as identifying the active speaker. We provide evidence in support of the hypothesis from gesture literature and audio-visual synchrony studies. We also present a vision-only diarization algorithm that relies on gestures (i.e. upper body movements). Experiments carried out on 8.9 hours of a publicly available dataset (the AMI meeting data) show that diarization error rates as low as 15% can be achieved.

Abstract

Does spatial language influence how people think about space? To address this question, we observed children who did not know a conventional language, and tested their performance on nonlinguistic spatial tasks. We studied deaf children living in Istanbul whose hearing losses prevented them from acquiring speech and whose hearing parents had not exposed them to sign. Lacking a conventional language, the children used gestures, called homesigns, to communicate. In Study 1, we asked whether homesigners used gesture to convey spatial relations, and found that they did not. In Study 2, we tested a new group of homesigners on a Spatial Mapping Task, and found that they performed significantly worse than hearing Turkish children who were matched to the deaf children on another cognitive task. The absence of spatial language thus went hand-in-hand with poor performance on the nonlinguistic spatial task, pointing to the importance of spatial language in thinking about space.

Abstract

Wilson disease (WD) is an autosomal recessive disorder resulting in pathological progressive copper accumulation in liver and other tissues. The worldwide prevalence (P) is about 30/million, while in Sardinia it is in the order of 1/10 000. However, all of these estimates are likely to suffer from an underdiagnosis bias. Indeed, a recent molecular neonatal screening in Sardinia reported a WD prevalence of 1:2707. In this study, we used a new approach that makes it possible to estimate the allelic frequency (q) of an autosomal recessive disorder if one knows the proportion between homozygous and compound heterozygous patients (the homozygosity index or HI) and the inbreeding coefficient (F) in a sample of affected individuals. We applied the method to a set of 178 Sardinian individuals (3 of whom born to consanguineous parents), each with a clinical and molecular diagnosis of WD. Taking into account the geographical provenance of the parents of every patient within Sardinia (to make F computation more precise), we obtained a q=0.0191 (F=7.8 × 10-4, HI=0.476) and a corresponding prevalence P=1:2732. This result confirms that the prevalence of WD is largely underestimated in Sardinia. On the other hand, the general reliability and applicability of the HI approach to other autosomal recessive disorders is confirmed, especially if one is interested in the genetic epidemiology of populations with high frequency of consanguineous marriages.

Abstract

First paragraph: The study of the transmission of sign languages can give novel insights into the transmission of spoken languages1 and, more generally, into gene–culture coevolution. Over the years, several papers related to the persistence of sign language have been
reported.2–6 All of these studies have emphasized the role of assortative (non-random) mating by deafness state (ie, a tendency for deaf individuals to partner together) for increasing the frequency of recessive deafness, and hence for the persistence of sign language in a population.

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

How are space and time related in the brain? This study contrasts two proposals that make different predictions about the interaction between spatial and temporal magnitudes. Whereas ATOM implies that space and time are symmetrically related, Metaphor Theory claims they are asymmetrically related. Here we investigated whether space and time activate the same neural structures in the inferior parietal cortex (IPC) and whether the activation is symmetric or asymmetric across domains. We measured participants’ neural activity while they made temporal and spatial judgments on the same visual stimuli. The behavioral results replicated earlier observations of a space-time asymmetry: Temporal judgments were more strongly influenced by irrelevant spatial information than vice versa. The BOLD fMRI data indicated that space and time activated overlapping clusters in the IPC and that, consistent with Metaphor Theory, this activation was asymmetric: The shared region of IPC was activated more strongly during temporal judgments than during spatial judgments. We consider three possible interpretations of this neural asymmetry, based on 3 possible functions of IPC.

Abstract

According to the cue-based parsing approach (Lewis, Vasishth, & Van Dyke, 2006), sentence comprehension difficulty derives from interference from material that partially matches syntactic and semantic retrieval cues. In a 2 (low vs. high semantic interference) × 2 (low vs. high syntactic interference) fMRI study, greater activation was observed in left BA44/45 for high versus low syntactic interference conditions following sentences and in left BA45/47 for high versus low semantic interference conditions following comprehension questions. A conjunction analysis showed BA45 associated with both types of interference, while BA47 was associated with only semantic interference. Greater activation was also observed in the left STG in the high interference conditions. Importantly, the results for the LIFG could not be attributed to greater working memory capacity demands for high interference conditions. The results favor a fractionation of the LIFG wherein BA45 is associated with post-retrieval selection and BA47 with controlled retrieval of semantic information.

Abstract

Native listeners make use of higher-level, context-driven semantic and linguistic information during the perception of speech-in-noise. In a recent behavioral study, using a new paradigm that isolated the semantic level of speech by using words, we showed that this native-language benefit is at least partly driven by semantic context (Golestani et al., 2009). Here, we used the same paradigm in a functional magnetic resonance imaging (fMRI) experiment to study the neural bases of speech intelligibility, as well as to study the neural bases of this semantic context effect in the native language. A forced-choice recognition task on the first of two auditorily presented semantically related or unrelated words was employed, where the first, 'target' word was embedded in different noise levels. Results showed that activation in components of the brain language network, including Broca's area and the left posterior superior temporal sulcus, as well as brain regions known to be functionally related to attention and task difficulty, was modulated by stimulus intelligibility. In line with several previous studies examining the role of linguistic context in the intelligibility of degraded speech at the sentence level, we found that activation in the angular gyrus of the left inferior parietal cortex was modulated by the presence of semantic context, and further, that this modulation depended on the intelligibility of the speech stimuli. Our findings help to further elucidate neural mechanisms underlying the interaction of context-driven and signal-driven factors during the perception of degraded speech, and this specifically at the semantic level. (c) 2013 Elsevier Inc. All rights reserved.

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

Researchers are beginning to uncover the neurogenetic pathways that underlie our unparalleled capacity for spoken language. Initial clues come from identification of genetic risk factors implicated in developmental language disorders. The underlying genetic architecture is complex, involving a range of molecular mechanisms. For example, rare protein-coding mutations of the FOXP2 transcription factor cause severe problems with sequencing of speech sounds, while common genetic risk variants of small effect size in genes like CNTNAP2, ATP2C2 and CMIP are associated with typical forms of language impairment. In this article, we describe how investigations of these and other candidate genes, in humans, animals and cellular models, are unravelling the connections between genes and cognition. This depends on interdisciplinary research at multiple levels, from determining molecular interactions and functional roles in neural cell-biology all the way through to effects on brain structure and activity.

Abstract

Absolute pitch and synesthesia are two uncommon cognitive traits that reflect increased neuronal connectivity and have been anecdotally reported to occur together in a same individual. Here we systematically evaluate the occurrence of syesthesia in a population of 768 subjects with documented absolute pitch. Out of these 768 subjects, 151(20.1%) reported synesthesia, most commonly with color. These self-reports of synesthesia were validated in a subset of 21 study subjects using an established methodology. We further carried out combined linkage analysis of 53 multiplex families with absolute pitch and 36 multiplex families with synesthesia. We observed a peak NPL LOD=4.68 on chromosome 6q, as well as evidence of linkage on chromosome 2 using a dominant model. These data establish the close phenotypic and genetic relationship between absolute pitch and synesthesia. The chromosome 6 linkage region contains 73 genes; several leading candidate genes involved in neurodevelopment were investigated by exon resequencing. However, further studies will be required to definitively establish the identity of the causative gene(s) in the region.

Abstract

Magnetoencephalographic (MEG) recordings are a rich source of information about the neural dynamics underlying cognitive processes in the brain, with excellent temporal and good spatial resolution. In recent years there have been considerable advances in MEG hardware developments as well as methodological developments. Sophisticated analysis techniques are now routinely applied and continuously improved, leading to fascinating insights into the intricate dynamics of neural processes. However, the rapidly increasing level of complexity of the different steps in a MEG study make it difficult for novices, and sometimes even for experts, to stay aware of possible limitations and caveats. Furthermore, the complexity of MEG data acquisition and data analysis requires special attention when describing MEG studies in publications, in order to facilitate interpretation and reproduction of the results. This manuscript aims at making recommendations for a number of important data acquisition and data analysis steps and suggests details that should be specified in manuscripts reporting MEG studies. These recommendations will hopefully serve as guidelines that help to strengthen the position of the MEG research community within the field of neuroscience, and may foster discussion within the community in order to further enhance the quality and impact of MEG research.

Abstract

Trumai, a genetically isolated language spoken in Brazil (Xingu reserve), is an example of an endangered language. Although the Trumai population consists of more than 100 individuals, only 51 people speak the language. The oral traditions are progressively dying. Given the current scenario, the documentation of this language and its cultural aspects is of great importance. In the framework of the DoBeS program (Documentation of Endangered Languages), the project "Documentation of Trumai" has selected and organized a collection of Trumai texts, with a multi-media representation of the corpus. Several kinds of information and data types are being included in the archive of the language: texts with audio and video recordings; written texts from educational materials; drawings; photos; songs; annotations in different formats; lexicon; field notes; results from scientific studies of the language (sound system, sketch grammar, comparative studies with other Xinguan languages), etc. All materials are integrated into the IMDI-Browser, a specialized tool for presenting and searching for linguistic data. This paper explores the processing phases and the results of the Trumai project taking into consideration the issue of how to combine the needs and wishes of field linguistics (content and research aspects) and the needs of archiving (structure and workflow aspects) in a well-organized corpus.

Abstract

A prototypical lexicon tool was implemented which was intended to allow researchers to collaboratively create lexicons of endangered languages. Increasingly often researchers documenting or analyzing a language work at different locations. Lexicons that evolve through continuous interaction between the collaborators can only be efficiently produced when it can be accessed and manipulated via the Internet. The SHAWEL tool was developed to address these needs; it makes use of a thin Java client and a central database solution.

Abstract

The shape of pitch contours has been shown to have an effect on the perceived duration of vowels. For instance, vowels with high level pitch and vowels with falling contours sound longer than vowels with low level pitch. Depending on whether the
comparison is between level pitches or between level and dynamic contours, these findings have been interpreted in two ways. For inter-level comparisons, where the duration results are the reverse of production results, a hypercorrection strategy in production has been proposed [1]. By contrast, for comparisons between level pitches and dynamic contours, the
longer production data for dynamic contours have been held responsible. We report an experiment with Dutch and Chinese listeners which aimed to show that production data and perception data are each other’s opposites for high, low, falling and rising contours. We explain the results, which are consistent with earlier findings, in terms of the compensatory listening strategy of [2], arguing that the perception effects are due to a perceptual compensation of articulatory strategies and
constraints, rather than that differences in production compensate for psycho-acoustic perception effects.

Abstract

A neurobiological model of language is discussed that overcomes the shortcomings of the classical Wernicke-Lichtheim-Geschwind model. It is based on a subdivision of language processing into three components: Memory, Unification, and Control. The functional components as well as the neurobiological underpinnings of the model are discussed. In addition, the need for extension of the model beyond the classical core regions for language is shown. Attentional networks as well as networks for inferential processing are crucial to realize language comprehension beyond single word processing and beyond decoding propositional content. It is shown that this requires the dynamic interaction between multiple brain regions.

Abstract

In a study by Milberg, Blumstein, and Dworetzky (1987), normal control subjects and Wernicke's and Broca's aphasics performed a lexical decision task on the third element of auditorily presented triplets of words with either a word or a nonword as target. In three of the four types of word triplets, the first and the third words were related to one or both meanings of the second word, which was semantically ambiguous. The fourth type of word triplet consisted of three unrelated, unambiguous words, functioning as baseline. Milberg et al. (1987) claim that the results for their control subjects are similar to those reported by Schvaneveldt, Meyer, and Becker's original study (1976) with the same prime types, and so interpret these as evidence for a selective lexical access of the different meanings of ambiguous words. It is argued here that Milberg et al. only partially replicate the Schvaneveldt et al. results. Moreover, the results of Milberg et al. are not fully in line with the selective access hypothesis adopted. Replication of the Milberg et al. (1987) study with Dutch materials, using both a design without and a design with repetition of the same target words for the same subjects led to the original pattern as reported by Schvaneveldt et al. (1976). In the design with four separate presentations of the same target word, a strong repetition effect was found. It is therefore argued that the discrepancy between the Milberg et al. results on the one hand, and the Schvaneveldt et al. results on the other, might be due to the absence of a control for repetition effects in the within-subject design used by Milberg et al. It is concluded that this makes the results for both normal and aphasic subjects in the latter study difficult to interpret in terms of a selective access model for normal processing.

Abstract

This chapter sketches in very general terms the cognitive architecture of both language comprehension and production, as well as the neurobiological infrastructure that makes the human brain ready for language. Focus is on spoken language, since that compares most directly to processing music. It is worth bearing in mind that humans can also interface with language as a cognitive system using sign and text (visual) as well as Braille (tactile); that is to say, the system can connect with input/output processes in any sensory modality. Language processing consists of a complex and nested set of subroutines to get from sound to meaning (in comprehension) or meaning to sound (in production), with remarkable speed and accuracy. The fi rst section outlines a selection of the major constituent operations, from fractionating the input into manageable units to combining and unifying information in the construction of meaning. The next section addresses the neurobiological infrastructure hypothesized to form the basis for language processing. Principal insights are summarized by building on the notion of “brain networks” for speech–sound processing, syntactic processing, and the construction of meaning, bearing in mind that such a neat three-way subdivision overlooks important overlap and shared mechanisms in the neural architecture subserving language processing. Finally, in keeping with the spirit of the volume, some possible relations are highlighted between language and music that arise from the infrastructure developed here. Our characterization of language and its neurobiological foundations is necessarily selective and brief. Our aim is to identify for the reader critical questions that require an answer to have a plausible cognitive neuroscience of language processing.

Abstract

First paragraph:
MacDonald (2013) proposes that distributional properties of language and processing biases in language comprehension can to a large extent be attributed to consequences of the language production process. In essence, the account is derived from the principle of least effort that was formulated by Zipf, among others (Zipf, 1949; Levelt, 2013). However, in Zipf's view the outcome of the least effort principle was a compromise between least effort for the speaker and least effort for the listener, whereas MacDonald puts most of the burden on the production process.

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 study investigated the developmental interrelationships between play, gesture use and spoken language development in children aged 18–31 months. The children completed two tasks: (i) a structured measure of pretend (or ‘symbolic’) play and (ii) a measure of vocabulary knowledge in which children have been shown to gesture. Additionally, their productive spoken language knowledge was measured via parental report. The results indicated that symbolic play is positively associated with children’s gesture use, which in turn is positively associated with spoken language knowledge over and above the influence of age. The tripartite relationship between gesture, play and language development is discussed with reference to current developmental theory.

Abstract

This paper studies the robustness of exemplar effects in word comprehension by means of four long-term priming experiments with lexical decision tasks in Dutch. A prime and target represented the same word type and were presented with the same or different degree of reduction. In Experiment 1, participants heard only a small number of trials, a large proportion of repeated words, and stimuli produced by only one speaker. They recognized targets more quickly if these represented the same degree of reduction as their primes, which forms additional evidence for the exemplar effects reported in the literature. Similar effects were found for two speakers who differ in their pronunciations. In Experiment 2, with a smaller proportion of repeated words and more trials between prime and target, participants recognized targets preceded by primes with the same or a different degree of reduction equally quickly. Also, in Experiments 3 and 4, in which listeners were not exposed to one but two types of pronunciation variation (reduction degree and speaker voice), no exemplar effects arose. We conclude that the role of exemplars in speech comprehension during natural conversations, which typically involve several speakers and few repeated content words, may be smaller than previously assumed.

Abstract

This paper investigates the nature of reduction phenomena in informal speech. It addresses the question whether reduction processes that affect many word types, but only if they occur in connected informal speech, may be categorical in nature. The focus is on reduction of schwa in the prefixes and on word-final /t/ in Dutch past participles. More than 2000 tokens of past participles from the Ernestus Corpus of Spontaneous Dutch and the Spoken Dutch Corpus (both from the interview and read speech component) were transcribed automatically. The results demonstrate that the presence and duration of /t/ are affected by approximately the same phonetic variables, indicating that the absence of /t/ is the extreme result of shortening, and thus results from a gradient reduction process. Also for schwa, the data show that mainly phonetic variables influence its reduction, but its presence is affected by different and more variables than its duration, which suggests that the absence of schwa may result from gradient as well as categorical processes. These conclusions are supported by the distributions of the segments’ durations. These findings provide evidence that reduction phenomena which affect many words in informal conversations may also result from categorical reduction processes.

Abstract

We present a quantitative model of word order and movement constraints that enables a simple and uniform treatment of a seemingly heterogeneous collection of linear order phenomena in English, Dutch and German complement constructions (Wh-extraction, clause union, extraposition, verb clustering, particle movement, etc.). Underlying the scheme are central assumptions of the psycholinguistically motivated Performance Grammar (PG). Here we describe this formalism in declarative terms based on typed feature unification. PG allows a homogenous treatment of both the within- and between-language variations of the ordering phenomena under discussion, which reduce to different settings of a small number of quantitative parameters.

Abstract

Drawings of objects were presented in series of 54 each to 14 German speaking subjects with the tasks to indicate by button presses a) whether the grammatical gender of an object name was masculine ("der") or feminine ("die") and b) whether the depicted object was man-made or nature-made. The magnetoencephalogram (MEG) was recorded with a whole-head neuromagnetometer and task-specific patterns of brain activity were determined in the source space (Minimum Norm Estimates, MNE). A left-temporal focus of activity 150-275 ms after stimulus onset in the gender decision compared to the semantic classification task was discussed as indicating the retrieval of syntactic information, while a more expanded left hemispheric activity in the gender relative to the semantic task 300-625 ms after stimulus onset was discussed as indicating phonological encoding. A predominance of activity in the semantic task was observed over right fronto-central region 150-225 ms after stimulus-onset, suggesting that semantic and syntactic processes are prominent in this stage of lexical selection.

Abstract

We here review existing evidence for majority influences in children under the age of ten years and comparable studies with animals ranging from fish to apes. Throughout the review, we structure the discussion surrounding majority influences by differentiating the behaviour of individuals in the presence of a majority and the underlying mechanisms and motivations. Most of the relevant research to date in both developmental psychology and comparative psychology has focused on the behavioural outcomes, where a multitude of mechanisms could be at play. We further propose that interpreting cross-species differences in behavioural patterns is difficult without considering the psychology of the individual. Some attempts at this have been made both in developmental psychology and comparative psychology. We propose that physiological measures should be used to subsidize behavioural studies in an attempt to understand the composition of mechanisms and motivations underlying majority influence. We synthesize the relevant evidence on human brain function in order to provide a framework for future investigation in this area. In addition to streamlining future research efforts, we aim to create a conceptual platform for productive exchanges across the related disciplines of developmental and comparative psychology.

Abstract

This thesis focuses on one aspect of interactional competence: competence to manage knowledge distribution in conversation. In order to be considered competent in everyday interaction, participants need not only to index one another's knowledge states but also to engage in dynamic negotiation of knowledge distribution. Adopting the methodology of conversation analysis, the thesis investigates how participants' orientations to knowledge distribution, 'epistemicity', are manifested. The thesis examines three interactional environments: assessment sequences, informing sequences and polar question-answer sequences. A systematic analysis reveals that interactants orient to different aspects of knowledge in different environments, employing different grammatical resources. When they assess an object, they are concerned about who possesses 'epistemic primacy'. Japanese final particles and the practices of intensification serve together to claim epistemic primacy and provide support for the claim. It is also reported that interactants are oriented to achieve 'epistemic congruence' − consensus regarding how knowledge is distributed among them. When one provides the other with new information, the exchange commonly develops into a four-turn sequence, instead of a minimal adjacency pair. It is shown that this sequence organization allows interactants to achieve a balance between territories of experience, affiliation and empathy. In polar question-answer sequences, how (un)expected or novel a given piece of information is becomes an issue. Answers are found to be formulated such that they adopt epistemic stances that are assertive enough to match the level of (un)certainty expressed by questioners. The thesis contributes to our understanding of how social interaction is organized. It becomes clear from the findings that a wide range of aspects of language use and interactional organization are dominated by interactants' orientations to epistemicity. Participants manage knowledge distribution in everyday interaction, which may be the most fundamental means of managing their social statuses and relations.

Abstract

This chapter contains sections titled: Introduction Questions Questioning and the Epistemic Gradient Presuppositions, Agenda Setting and Preferences Social Actions Implemented by Questions Questions as Building Blocks of Institutional Activities Future Directions

Abstract

Here we examined the role of bilingualism on cognitive inhibition using the Stroop Colour Word task. Our hypothesis was that the frequency of use of a second language (L2) in the daily life of successive bilingual individuals impacts the efficiency of their inhibitory control mechanism. Thirty-three highly proficient successive French–German bilinguals, living either in a French or in a German linguistic environment, performed a Stroop task on both French and German words. Moreover, 31 French monolingual individuals were also tested with French words. We showed that the bilingual advantage was (i) reinforced by the use of a third language, and (ii) modulated by the duration of immersion in a second language environment. This suggests that top–down inhibitory control is most involved at the beginning of immersion. Taken together, the present findings lend support to the psycholinguistic models of bilingual language processing that postulate that top–down active inhibition is involved in language control.

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

Research on imitation in infancy has primarily focused on what and when infants imitate. More recently, however, the question why infants imitate has received renewed attention, partly motivated by the finding that infants sometimes selectively imitate the actions of others and sometimes faithfully imitate, or overimitate, the actions of others. The present study evaluates the hypothesis that this varying imitative behavior is related to infants' social traits. To do so, we assessed faithful and selective imitation longitudinally at 12 and 15 months, and extraversion at 15 months. At both ages, selective imitation was dependent on the causal structure of the act. From 12 to 15 months, selective imitation decreased while faithful imitation increased. Furthermore, infants high in extraversion were more faithful imitators than infants low in extraversion. These results demonstrate that the onset of faithful imitation is earlier than previously thought, but later than the onset of selective imitation. The observed relation between extraversion and faithful imitation supports the hypothesis that faithful imitation is driven by the social motivations of the infant. We call this relation the King Louie Effect: like the orangutan King Louie in The Jungle Book, infants imitate faithfully due to a growing interest in the interpersonal nature of interactions.

Abstract

Allergic disease is very common and carries substantial public-health burdens. We conducted a meta-analysis of genome-wide associations with self-reported cat, dust-mite and pollen allergies in 53,862 individuals. We used generalized estimating equations to model shared and allergy-specific genetic effects. We identified 16 shared susceptibility loci with association P<5×10(-8), including 8 loci previously associated with asthma, as well as 4p14 near TLR1, TLR6 and TLR10 (rs2101521, P=5.3×10(-21)); 6p21.33 near HLA-C and MICA (rs9266772, P=3.2×10(-12)); 5p13.1 near PTGER4 (rs7720838, P=8.2×10(-11)); 2q33.1 in PLCL1 (rs10497813, P=6.1×10(-10)), 3q28 in LPP (rs9860547, P=1.2×10(-9)); 20q13.2 in NFATC2 (rs6021270, P=6.9×10(-9)), 4q27 in ADAD1 (rs17388568, P=3.9×10(-8)); and 14q21.1 near FOXA1 and TTC6 (rs1998359, P=4.8×10(-8)). We identified one locus with substantial evidence of differences in effects across allergies at 6p21.32 in the class II human leukocyte antigen (HLA) region (rs17533090, P=1.7×10(-12)), which was strongly associated with cat allergy. Our study sheds new light on the shared etiology of immune and autoimmune disease.

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

When a sentence such as The model embraced the designer and the photographer laughed is read, the noun phrase the photographer is temporarily ambiguous: It can be either one of the objects of embraced (NP-coordination) or the subject of a new, conjoined sentence (S-coordination). It has been shown for a number of languages, including Dutch (the language used in this study), that readers prefer NP-coordination over S-coordination, at least in isolated sentences. In the present paper, it will be suggested that NP-coordination is preferred because it is the simpler of the two options in terms of topic-structure; in NP-coordinations there is only one topic, whereas S-coordinations contain two. Results from off-line (sentence completion) and online studies (a self-paced reading and an eye tracking experiment) support this topic-structure explanation. The processing difficulty associated with S-coordinated sentences disappeared when these sentences followed contexts favoring a two-topic continuation. This finding establishes topic-structure as an important factor in online sentence processing.

Abstract

This book is a collection of papers inspired by the linguistics career of Ivan Sag, written to celebrate his many contributions to the field. Ivan has been a professor of linguistics at Stanford University since 1979, has been the directory of the Symbolic Systems program (2005-2009), has authored, co-authored, or edited fifteen volumes in linguistics, and has been at the forefront of non-transformational approaches to syntax. Reflecting the breath of Ivan's theoretical interests and approaches to linguistic problems, the papers here tackle a range of grammar-related issues using corpora, intuitions, and laboratory experiments. They are united by their use of and commitment to rich datasets and the shared perspective that the best theories of grammar attempt to account for the full diversity and complexity of language data.

Abstract

In human face-to-face communication, language comprehension is a multi-modal, situated activity. However, little is known about how we combine information from these different modalities, and how perceived communicative intentions, often signaled through visual signals, such as eye
gaze, may influence this processing. We address this question by simulating a triadic communication context in which a
speaker alternated her gaze between two different recipients. Participants thus viewed speech-only or speech+gesture
object-related utterances when being addressed (direct gaze) or unaddressed (averted gaze). Two object images followed
each message and participants’ task was to choose the object that matched the message. Unaddressed recipients responded significantly slower than addressees for speech-only
utterances. However, perceiving the same speech accompanied by gestures sped them up to a level identical to
that of addressees. That is, when speech processing suffers due to not being addressed, gesture processing remains intact and enhances the comprehension of a speaker’s message

Abstract

The Lexical Retrieval Hypothesis proposes that gestures function at the level of speech production, aiding in the retrieval of lexical items from the mental lexicon. However, empirical evidence for this account is mixed, and some critics argue that a more likely function of gestures during lexical retrieval is a communicative one. The present study was designed to test these predictions against each other by keeping lexical retrieval difficulty constant while varying social context. Participants' gestures were analysed during tip of the tongue experiences when communicating with a partner face-to-face (FTF), while being separated by a screen, or on their own by speaking into a voice recorder. The results show that participants in the FTF context produced significantly more representational gestures than participants in the solitary condition. This suggests that, even in the specific context of lexical retrieval difficulties, representational gestures appear to play predominantly a communicative role.

Abstract

While people around the world mentally represent time in terms of space, there is substantial cross-cultural
variability regarding which temporal constructs are mapped onto which parts in space. Do particular spatial
layouts of time – as expressed through metaphors in language – shape temporal focus? We trained native
English speakers to use spatiotemporal metaphors in a way such that the flow of time is reversed, representing
the future behind the body (out of visible space) and the past ahead of the body (within visible space). In a
task measuring perceived relevance of past events, people considered past events and present (or immediate
past) events to be more relevant after using the reversed metaphors compared to a control group that used canonical metaphors spatializing the past behind and the future ahead of the body (Experiment 1). In a control measure in which temporal information was removed, this effect disappeared (Experiment 2). Taken
together, these findings suggest that the degree to which people focus on the past may be shaped by the
visibility of the past in spatiotemporal metaphors used in language.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is a highly heritable disorder and several genes increasing disease risk have been identified. The dopamine transporter gene, SLC6A3/DAT1, has been studied most extensively in ADHD research. Interestingly, a different haplotype of this gene (formed by genetic variants in the 3' untranslated region and intron 8) is associated with childhood ADHD (haplotype 10-6) and adult ADHD (haplotype 9-6). The expression of DAT1 is highest in striatal regions in the brain. This part of the brain is of interest to ADHD because of its role in reward processing is altered in ADHD patients; ADHD patients display decreased striatal activation during reward processing. To better understand how the DAT1 gene exerts effects on ADHD, we studied the effect of this gene on reward-related brain functioning in the area of its highest expression in the brain, the striatum, using functional magnetic resonance imaging. In doing so, we tried to resolve inconsistencies observed in previous studies of healthy individuals and ADHD-affected children. In a sample of 87 adult ADHD patients and 77 healthy comparison subjects, we confirmed the association of the 9-6 haplotype with adult ADHD. Striatal hypoactivation during the reward anticipation phase of a monetary incentive delay task in ADHD patients was again shown, but no significant effects of DAT1 on striatal activity were found. Although the importance of the DAT1 haplotype as a risk factor for adult ADHD was again demonstrated in this study, the mechanism by which this gene increases disease risk remains largely unknown.

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

In the present paper we describe the Enhanced Literate Mind (ELM) hypothesis. As individuals learn to read and write, they are, from then on, exposed to extensive written-language input and become literate. We propose that acquisition and proficient processing of written language (‘literacy’) leads to, both, increased language knowledge as well as enhanced language and non-language (perceptual and cognitive) skills. We also suggest that all neurotypical native language users, including illiterate, low literate, and high literate individuals, share a Basic Language Cognition (BLC) in the domain of oral informal language. Finally, we discuss the possibility that the acquisition of ELM leads to some degree of ‘knowledge parallelism’ between BLC and ELM in literate language users, which has implications for empirical research on individual and situational differences in spoken language processing.

Abstract

Models of cognitive processes often include simplifications, idealisations, and fictionalisations, so how should we learn about cognitive processes from such models? Particularly in cognitive science, when many features of the target system are unknown, it is not always clear which simplifications, idealisations, and so on, are appropriate for a research question, and which are highly misleading. Here we use a case-study from studies of language evolution, and ideas from philosophy of science, to illustrate a robustness approach to learning from models. Robust properties are those that arise across a range of models, simulations and experiments, and can be used to identify key causal structures in the models, and the phenomenon, under investigation. For example, in studies of language evolution, the emergence of compositional structure is a robust property across models, simulations and experiments of cultural transmission, but only under pressures for learnability and expressivity. This arguably illustrates the principles underlying real cases of language evolution. We provide an outline of the robustness approach, including its limitations, and suggest that this methodology can be productively used throughout cognitive science. Perhaps of most importance, it suggests that different modelling frameworks should be used as tools to identify the abstract properties of a system, rather than being definitive expressions of theories.

Abstract

Bioacoustics increasingly relies on large datasets and computational methods. The need to batch-process large amounts of data and the increased focus on algorithmic processing require software tools. To optimally assist in a bioacoustician’s workflow, software tools need to be as simple and effective as possible. Five years ago, the Python package Parselmouth was released to provide easy and intuitive access to all functionality in the Praat software. Whereas Praat is principally designed for phonetics and speech processing, plenty of bioacoustics studies have used its advanced acoustic algorithms. Here, we evaluate existing usage of Parselmouth and discuss in detail several studies which used the software library. We argue that Parselmouth has the potential to be used even more in bioacoustics research, and suggest future directions to be pursued with the help of Parselmouth.

Abstract

Listeners find it relatively difficult to recognize words that are similar-sounding to other known words. In contrast, when asked to identify spoken nonwords, listeners perform better when the nonwords are similar to many words in their language. These effects of sound similarity have been assessed in multiple ways, and both sublexical (phonotactic probability) and lexical (neighborhood) effects have been reported, leading to models that incorporate multiple stages of processing. One prediction that can be derived from these models is that there may be differences among individuals in the size of these similarity effects as a function of working memory abilities. This study investigates how item-individual characteristics of nonwords (both phonotactic probability and neighborhood density) interact with listener-individual characteristics (such as cognitive abilities and hearing sensitivity) in the perceptual identification of nonwords. A set of nonwords was used in which neighborhood density and phonotactic probability were not correlated. In our data, neighborhood density affected identification more reliably than did phonotactic probability. The first study, with young adults, showed that higher neighborhood density particularly benefits nonword identification for those with poorer attention-switching control. This suggests that it may be easier to focus attention on a novel item if it activates and receives support from more similar-sounding neighbors. A similar study on nonword identification with older adults showed increased neighborhood density effects for those with poorer hearing, suggesting that activation of long-term linguistic knowledge is particularly important to back up auditory representations that are degraded as a result of hearing loss.

Abstract

The authors report six implicit priming experiments that examined the production of inflected forms. Participants produced words out of small sets in response to prompts. The words differed in form or shared word-initial segments, which allowed for preparation. In constant inflectional sets, the words had the same number of inflectional suffixes, whereas in variable sets the number of suffixes differed. In the experiments, preparation effects were obtained, which were larger in the constant than in the variable sets. Control experiments showed that this difference in effect was not due to syntactic class or phonological form per se. The results are interpreted in terms of a slot-and-filler model of word production, in which inflectional frames, on the one hand, and stems and affixes, on the other hand, are independently spelled out on the basis of an abstract morpho-syntactic specification of the word, which is followed by morpheme-to-frame association.