Publications

Abstract

Speakers choose a particular expression based on many factors, including availability of the referent in the perceptual context. We examined whether, when expressing referents, monolingual English- and Turkish-speaking children: (1) are sensitive to perceptual context, (2) express this sensitivity in language-specific ways, and (3) use co-speech gestures to specify referents that are underspecified. We also explored the mechanisms underlying children's sensitivity to perceptual context. Children described short vignettes to an experimenter under two conditions: The characters in the vignettes were present in the perceptual context (perceptual context); the characters were absent (no perceptual context). Children routinely used nouns in the no perceptual context condition, but shifted to pronouns (English-speaking children) or omitted arguments (Turkish-speaking children) in the perceptual context condition. Turkish-speaking children used underspecified referents more frequently than English-speaking children in the perceptual context condition; however, they compensated for the difference by using gesture to specify the forms. Gesture thus gives children learning structurally different languages a way to achieve comparable levels of specification while at the same time adhering to the referential expressions dictated by their language.

Abstract

Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated that they disrupt TBR1 protein function. Recent screens of thousands of simplex families with sporadic ASD cases uncovered additional T-box variants in TBR1 but their etiological relevance is unclear. We performed detailed functional analyses of de novo missense TBR1 variants found in the T-box of ASD cases, assessing many aspects of protein function, including subcellular localization, transcriptional activity and protein-interactions. Only two of the three tested variants severely disrupted TBR1 protein function, despite in silico predictions that all would be deleterious. Furthermore, we characterized a putative interaction with BCL11A, a transcription factor that was recently implicated in a neurodevelopmental syndrome involving developmental delay and language deficits. Our findings enhance understanding of molecular functions of TBR1, as well as highlighting the importance of functional testing of variants that emerge from next-generation sequencing, to decipher their contributions to neurodevelopmental disorders like ASD.

Abstract

Abnormal prosody is a striking feature of the speech of those with Autism Spectrum Disorder (ASD), but previous reports suggest large variability among those with ASD. Here we show that part of this heterogeneity can be explained by level of language functioning. We recorded semi-spontaneous but controlled conversations in adults with and without Autism Spectrum Disorder and measured features related to pitch and duration to determine (1) general use of prosodic features, (2) prosodic use in relation to marking information structure, specifically, the emphasis of new information in a sentence (focus) as opposed to information already given in the conversational context (topic), and (3) the relation between prosodic use and level of language function. We found that, compared to typical adults, those with ASD with high language functioning generally used a larger pitch range than controls but did not mark information structure, whereas those with moderate language functioning generally used a smaller pitch range than controls but marked information structure appropriately to a large extent. Both impaired general prosodic use and impaired marking of information structure would be expected to seriously impact social communication and thereby lead to increased difficulty in personal domains, such as making and keeping friendships, and in professional domains, such as competing for employment opportunities.

Abstract

Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically heterogeneous causes. Large-scale sequencing has led to the identification of many gene-disrupting mutations; however, a substantial proportion of cases lack a molecular diagnosis. As such, there remains much to uncover for a complete understanding of the genetic underpinnings of ID. Genetic variants present in non-coding regions of the genome have been highlighted as potential contributors to neurodevelopmental disorders given their role in regulating gene expression. Nevertheless the functional characterization of non-coding variants remains challenging. We describe the identification and characterization of de novo non-coding variation in 3′UTR regulatory regions within an ID cohort of 50 patients. This cohort was previously screened for structural and coding pathogenic variants via CNV, whole exome and whole genome analysis. We identified 44 high-confidence single nucleotide non-coding variants within the 3′UTR regions of these 50 genomes. Four of these variants were located within predicted miRNA binding sites and were thus hypothesised to have regulatory consequences. Functional testing showed that two of the variants interfered with miRNA-mediated regulation of their target genes, AMD1 and FAIM. Both these variants were found in the same individual and their functional consequences may point to a potential role for such variants in intellectual disability.

Abstract

Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes. Herein we show the importance of 3 prime untranslated region (3'UTR) non-coding regulatory variants across neurodevelopmental and neuropsychiatric disorders. We devised a pipeline for identifying and functionally validating putatively pathogenic variants from next generation sequencing (NGS) data. We applied this pipeline to a cohort of children with severe specific language impairment (SLI) and identified a functional, SLI-associated variant affecting gene regulation in cells and post-mortem human brain. This variant and the affected gene (ARHGEF39) represent new putative risk factors for SLI. Furthermore, we identified 3′UTR regulatory variants across autism, schizophrenia and bipolar disorder NGS cohorts demonstrating their impact on neurodevelopmental and neuropsychiatric disorders. Our findings show the importance of investigating non-coding regulatory variants when determining risk factors contributing to neurodevelopmental and neuropsychiatric disorders. In the future, integration of such regulatory variation with protein coding changes will be essential for uncovering the genetic causes of complex neurological disorders and the fundamental mechanisms underlying health and disease

Abstract

Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complex. Using a comprehensive integrated approach to ID disease modeling, involving human cellular analyses coupled to mouse behavioral, neuroanatomical, and molecular phenotyping, we provide multiple lines of functional evidence for phenotypic effects. The etiological missense variants cluster in the amino-terminal region of human BCL11A, and we demonstrate that they all disrupt its localization, dimerization, and transcriptional regulatory activity, consistent with a loss of function. We show that Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype. Furthermore, we identify shared aberrant transcriptional profiles in the cortex and hippocampus of these mouse models. Thus, our work implicates BCL11A haploinsufficiency in neurodevelopmental disorders and defines additional targets regulated by this gene, with broad relevance for our understanding of ID and related syndromes

Abstract

Developmental dyslexia, a severe and persistent reading and spelling impairment, is characterized by difficulties in processing speech sounds (i.e., phonemes). Here, we test the hypothesis that these phonological difficulties are associated with a dysfunction of the auditory sensory thalamus, the medial geniculate body (MGB). By using functional MRI, we found that, in dyslexic adults, the MGB responded abnormally when the task required attending to phonemes compared with other speech features. No other structure in the auditory pathway showed distinct functional neural patterns between the two tasks for dyslexic and control participants. Furthermore, MGB activity correlated with dyslexia diagnostic scores, indicating that the task modulation of the MGB is critical for performance in dyslexics. These results suggest that deficits in dyslexia are associated with a failure of the neural mechanism that dynamically tunes MGB according to predictions from cortical areas to optimize speech processing. This view on task-related MGB dysfunction in dyslexics has the potential to reconcile influential theories of dyslexia within a predictive coding framework of brain function.

Abstract

The extent to which the phonetic system of a second language is mastered varies across individuals. The present study evaluates the pattern of individual differences in late bilinguals across different phonological processes. Fifty-five late Dutch-English bilinguals were tested on their ability to perceive a difficult L2 speech contrast (the English /æ/-/ε/ contrast) in three different tasks: A categorization task, a word identification task and a lexical decision task. As a group, L2 listeners were less accurate than native listeners. However, at the individual level, almost half of the L2 listeners scored within the native range in the categorization task whereas a small percentage scored within the native range in the identification and lexical decision tasks. These results show that L2 listeners' performance crucially depends on the nature of the task, with higher L2 listener accuracy on an acoustic-phonetic analysis task than on tasks involving lexical processes. These findings parallel previous results for early bilinguals, where the pattern of performance was consistent with the processing hierarchy proposed by different models of speech perception. The results indicate that the analysis of patterns of non-native performance can provide important insights concerning the architecture of the speech perception system and the issue of language learnability.

Abstract

People differ in their ability to perceive second language (L2) sounds. In early bilinguals the variability in learning L2 phonemes stems from speech-specific capabilities (Díaz, Baus, Escera, Costa & Sebastián-Gallés, 2008). The present study addresses whether speech-specific capabilities similarly explain variability in late bilinguals. Event-related potentials were recorded (using a design similar to Díaz et al., 2008) in two groups of late Dutch–English bilinguals who were good or poor in overtly discriminating the L2 English vowels /ε-æ/. The mismatch negativity, an index of discrimination sensitivity, was similar between the groups in conditions involving pure tones (of different length, frequency, and presentation order) but was attenuated in poor L2 perceivers for native, unknown, and L2 phonemes. These results suggest that variability in L2 phonemic learning originates from speech-specific capabilities and imply a continuity of L2 phonemic learning mechanisms throughout the lifespan

Abstract

Adherence to medications is an important indicator of the quality of medication management and impacts on health outcomes and cost-effectiveness of healthcare delivery. Electronic healthcare data (EHD) are increasingly used to estimate adherence in research and clinical practice, yet standardization and transparency of data processing are still a concern. Comprehensive and flexible open-source algorithms can facilitate the development of high-quality, consistent, and reproducible evidence in this field. Some EHD-based clinical decision support systems (CDSS) include visualization of medication histories, but this is rarely integrated in adherence analyses and not easily accessible for data exploration or implementation in new clinical settings. We introduce AdhereR, a package for the widely used open-source statistical environment R, designed to support researchers in computing EHD-based adherence estimates and in visualizing individual medication histories and adherence patterns. AdhereR implements a set of functions that are consistent with current adherence guidelines, definitions and operationalizations. We illustrate the use of AdhereR with an example dataset of 2-year records of 100 patients and describe the various analysis choices possible and how they can be adapted to different health conditions and types of medications. The package is freely available for use and its implementation facilitates the integration of medication history visualizations in open-source CDSS platforms.

Abstract

Communication is facilitated when listeners allocate their attention to important information (focus) in the message, a process called "information structure." Linguistic cues like the preceding context and pitch accent help listeners to identify focused information. In multimodal communication, relevant information can be emphasized by nonverbal cues like beat gestures, which represent rhythmic nonmeaningful hand movements. Recent studies have found that linguistic and nonverbal attention cues are integrated independently in single sentences. However, it is possible that these two cues interact when information is embedded in context, because context allows listeners to predict what information is important. In an ERP study, we tested this hypothesis and asked listeners to view videos capturing a dialogue. In the critical sentence, focused and nonfocused words were accompanied by beat gestures, grooming hand movements, or no gestures. ERP results showed that focused words are processed more attentively than nonfocused words as reflected in an N1 and P300 component. Hand movements also captured attention and elicited a P300 component. Importantly, beat gesture and focus interacted in a late time window of 600-900 msec relative to target word onset, giving rise to a late positivity when nonfocused words were accompanied by beat gestures. Our results show that listeners integrate beat gesture with the focus of the message and that integration costs arise when beat gesture falls on nonfocused information. This suggests that beat gestures fulfill a unique focusing function in multimodal discourse processing and that they have to be integrated with the information structure of the message.

Abstract

Prosody, particularly accent, aids comprehension by drawing attention to important elements such as the information that answers a question. A study using ERP registration investigated how the brain deals with the interpretation of prosodic prominence. Sentences were embedded in short dialogues and contained accented elements that were congruous or incongruous with respect to a preceding question. In contrast to previous studies, no explicit prosodic judgment task was added. Robust effects of accentuation were evident in the form of an “accent positivity” (200–500 msec) for accented elements irrespective of their congruity. Our results show that incongruously accented elements, that is, superfluous accents, activate a specific set of neural systems that is inactive in case of incongruously unaccented elements, that is, missing accents. Superfluous accents triggered an early positivity around 100 msec poststimulus, followed by a right-lateralized negative effect (N400). This response suggests that redundant information is identified immediately and leads to the activation of a neural system that is associated with semantic processing (N400). No such effects were found when contextually expected accents were missing. In a later time window, both missing and superfluous accents triggered a late positivity on midline electrodes, presumably related to making sense of both kinds of mismatching stimuli. These results challenge previous findings of greater processing for missing accents and suggest that the natural processing of prosody involves a set of distinct, temporally organized neural systems.

Abstract

Ideophones are marked words that depict sensory imagery found in many of the world’s languages. They are noted for their special forms, distinct grammatical behaviour, rich sensory meanings, and interactional uses related to experience and evidentiality. This review surveys recent developments in ideophone research. Work on the semiotics of ideophones helps explain why they are marked and how they realise the depictive potential of speech. A true semantic typology of ideophone systems is coming within reach through a combination of language-internal analyses and language-independent elicitation tools. Documentation of ideophones in a wide variety of genres as well as sequential analysis of ideophone use in natural discourse leads to new insights about their interactional uses and about their relation to other linguistic devices like reported speech and grammatical evidentials. As the study of ideophones is coming of age, it sheds new light on what is possible and probable in human language.

Abstract

We provide an annotated coding scheme for other-initiated repair, along with guidelines for building collections and aggregating cases based on interactionally relevant similarities and differences. The questions and categories of the scheme are grounded in inductive observations of conversational data and connected to a rich body of work on other-initiated repair in conversation analysis. The scheme is developed and tested in a 12-language comparative project and can serve as a stepping stone for future work on other-initiated repair and the systematic comparative study of conversational structures.

Abstract

Ideophones (also known as expressives or mimetics, and including onomatopoeia) have been systematically studied in linguistics since the 1850s, when they were first described as a lexical class of vivid sensory words in West-African languages. This paper surveys the research history of ideophones, from its roots in African linguistics to its fruits in general linguistics and typology around the globe. It shows that despite a recurrent narrative of marginalisation, work on ideophones has made an impact in many areas of linguistics, from theories of phonological features to typologies of manner and motion, and from sound symbolism to sensory language. Due to their hybrid nature as gradient vocal gestures that grow roots in discrete linguistic systems, ideophones provide opportunities to reframe typological questions, reconsider the role of language ideology in linguistic scholarship, and rethink the margins of language. With ideophones increasingly being brought into the fold of the language sciences, this review synthesises past theoretical insights and empirical findings in order to enable future work to build on them.

Abstract

Sound symbolism is a phenomenon with broad relevance to the study of language and mind, but there has been a disconnect between its investigations in linguistics and psychology. This study tests the sound-symbolic potential of ideophones—words described as iconic—in an experimental task that improves over prior work in terms of ecological validity and experimental control. We presented 203 ideophones from five languages to eighty-two Dutch listeners in a binary-choice task, in four versions: original recording, full diphone resynthesis, segments-only resynthesis, and prosody-only resynthesis. Listeners guessed the meaning of all four versions above chance, confirming the iconicity of ideophones and showing the viability of speech synthesis as a way of controlling for segmental and suprasegmental properties in experimental studies of sound symbolism. The success rate was more modest than prior studies using pseudowords like bouba/kiki, implying that assumptions based on such words cannot simply be transferred to natural languages. Prosody and segments together drive the effect: neither alone is sufficient, showing that segments and prosody work together as cues supporting iconic interpretations. The findings cast doubt on attempts to ascribe iconic meanings to segments alone and support a view of ideophones as words that combine arbitrariness and iconicity.We discuss the implications for theory and methods in the empirical study of sound symbolism and iconicity.

Abstract

Background Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. Methods We sent out a survey to 16 genetic centers performing SCN1A testing. Results We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. Conclusion We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.

Abstract

How a system represents information tightly constrains the kinds of problems it can solve. Humans routinely solve problems that appear to require structured representations of stimulus properties and the relations between them. An account of how we might acquire such representations has central importance for theories of human cognition. We describe how a system can learn structured relational representations from initially unstructured inputs using comparison, sensitivity to time, and a modified Hebbian learning algorithm. We summarize how the model DORA (Discovery of Relations by Analogy) instantiates this approach, which we call predicate learning, as well as how the model captures several phenomena from cognitive development, relational reasoning, and language processing in the human brain. Predicate learning offers a link between models based on formal languages and models which learn from experience and provides an existence proof for how structured representations might be learned in the first place.

Abstract

A commentary on
Transcranial Magnetic Stimulation over Left Inferior Frontal and Posterior Temporal Cortex Disrupts Gesture-Speech Integration

by Zhao, W., Riggs, K., Schindler, I., and Holle, H. (2018). J. Neurosci. 10, 1748–1717. doi: 10.1523/JNEUROSCI.1748-17.2017

Abstract

Previous work revealed that visual semantic information conveyed by gestures can enhance degraded speech comprehension, but the mechanisms underlying these integration processes under adverse listening conditions remain poorly understood. We used MEG to investigate how oscillatory dynamics support speech–gesture integration when integration load is manipulated by auditory (e.g., speech degradation) and visual semantic (e.g., gesture congruency) factors. Participants were presented with videos of an actress uttering an action verb in clear or degraded speech, accompanied by a matching (mixing gesture + “mixing”) or mismatching (drinking gesture + “walking”) gesture. In clear speech, alpha/beta power was more suppressed in the left inferior frontal gyrus and motor and visual cortices when integration load increased in response to mismatching versus matching gestures. In degraded speech, beta power was less suppressed over posterior STS and medial temporal lobe for mismatching compared with matching gestures, showing that integration load was lowest when speech was degraded and mismatching gestures could not be integrated and disambiguate the degraded signal. Our results thus provide novel insights on how low-frequency oscillatory modulations in different parts of the cortex support the semantic audiovisual integration of gestures in clear and degraded speech: When speech is clear, the left inferior frontal gyrus and motor and visual cortices engage because higher-level semantic information increases semantic integration load. When speech is degraded, posterior STS/middle temporal gyrus and medial temporal lobe are less engaged because integration load is lowest when visual semantic information does not aid lexical retrieval and speech and gestures cannot be integrated.

Abstract

Reduced forms like yeshay for yesterday often occur in conversations. Previous behavioral research reported a processing advantage for full over reduced forms. The present study investigated whether this processing advantage is reflected in a modulation of alpha (8–12 Hz) and gamma (30+ Hz) band activity. In three electrophysiological experiments, participants listened to full and reduced forms in isolation (Experiment 1), sentence-final position (Experiment 2), or mid-sentence position (Experiment 3). Alpha power was larger in response to reduced forms than to full forms, but only in Experiments 1 and 2. We interpret these increases in alpha power as reflections of higher auditory cognitive load. In all experiments, gamma power only increased in response to full forms, which we interpret as showing that lexical activation spreads more quickly through the semantic network for full than for reduced forms. These results confirm a processing advantage for full forms, especially in non-medial sentence position.

Abstract

During face-to-face communication, listeners integrate speech with gestures. The semantic information conveyed by iconic gestures (e.g., a drinking gesture) can aid speech comprehension in adverse listening conditions. In this magnetoencephalography (MEG) study, we investigated the spatiotemporal neural oscillatory activity associated with gestural enhancement of degraded speech comprehension. Participants watched videos of an actress uttering clear or degraded speech, accompanied by a gesture or not and completed a cued-recall task after watching every video. When gestures semantically disambiguated degraded speech comprehension, an alpha and beta power suppression and a gamma power increase revealed engagement and active processing in the hand-area of the motor cortex, the extended language network (LIFG/pSTS/STG/MTG), medial temporal lobe, and occipital regions. These observed low- and high-frequency oscillatory modulations in these areas support general unification, integration and lexical access processes during online language comprehension, and simulation of and increased visual attention to manual gestures over time. All individual oscillatory power modulations associated with gestural enhancement of degraded speech comprehension predicted a listener's correct disambiguation of the degraded verb after watching the videos. Our results thus go beyond the previously proposed role of oscillatory dynamics in unimodal degraded speech comprehension and provide first evidence for the role of low- and high-frequency oscillations in predicting the integration of auditory and visual information at a semantic level.

Abstract

Native listeners neurally integrate iconic gestures with speech, which can enhance degraded speech comprehension. However, it is unknown how non-native listeners neurally integrate speech and gestures, as they might process visual semantic context differently than natives. We recorded EEG while native and highly-proficient non-native listeners watched videos of an actress uttering an action verb in clear or degraded speech, accompanied by a matching ('to drive'+driving gesture) or mismatching gesture ('to drink'+mixing gesture). Degraded speech elicited an enhanced N400 amplitude compared to clear speech in both groups, revealing an increase in neural resources needed to resolve the spoken input. A larger N400 effect was found in clear speech for non-natives compared to natives, but in degraded speech only for natives. Non-native listeners might thus process gesture more strongly than natives when speech is clear, but need more auditory cues to facilitate access to gestural semantic information when speech is degraded.

Abstract

The cortical regions of the brain traditionally associated with the comprehension of language are Wernicke's area and Broca's area. However, recent evidence suggests that other brain regions might also be involved in this complex process. This paper describes the opportunity to evaluate a large number of brain-injured patients to determine which lesioned brain areas might affect language comprehension. Sixty-four chronic left hemisphere stroke patients were evaluated on 11 subtests of the Curtiss–Yamada Comprehensive Language Evaluation – Receptive (CYCLE-R; Curtiss, S., & Yamada, J. (1988). Curtiss–Yamada Comprehensive Language Evaluation. Unpublished test, UCLA). Eight right hemisphere stroke patients and 15 neurologically normal older controls also participated. Patients were required to select a single line drawing from an array of three or four choices that best depicted the content of an auditorily-presented sentence. Patients' lesions obtained from structural neuroimaging were reconstructed onto templates and entered into a voxel-based lesion-symptom mapping (VLSM; Bates, E., Wilson, S., Saygin, A. P., Dick, F., Sereno, M., Knight, R. T., & Dronkers, N. F. (2003). Voxel-based lesion-symptom mapping. Nature Neuroscience, 6(5), 448–450.) analysis along with the behavioral data. VLSM is a brain–behavior mapping technique that evaluates the relationships between areas of injury and behavioral performance in all patients on a voxel-by-voxel basis, similar to the analysis of functional neuroimaging data. Results indicated that lesions to five left hemisphere brain regions affected performance on the CYCLE-R, including the posterior middle temporal gyrus and underlying white matter, the anterior superior temporal gyrus, the superior temporal sulcus and angular gyrus, mid-frontal cortex in Brodmann's area 46, and Brodmann's area 47 of the inferior frontal gyrus. Lesions to Broca's and Wernicke's areas were not found to significantly alter language comprehension on this particular measure. Further analysis suggested that the middle temporal gyrus may be more important for comprehension at the word level, while the other regions may play a greater role at the level of the sentence. These results are consistent with those seen in recent functional neuroimaging studies and offer complementary data in the effort to understand the brain areas underlying language comprehension.

Abstract

There is ample evidence that native and non-native listeners use lexical knowledge to retune their native phonetic categories following ambiguous pronunciations. The present study investigates whether a non-native ambiguous sound can retune non-native phonetic categories. After a brief exposure to an ambiguous British English [l/ɹ] sound, Dutch listeners demonstrated retuning. This retuning was, however, asymmetrical: the non-native listeners seemed to show (more) retuning of the /ɹ/ category than of the /l/ category, suggesting that non-native listeners can retune non-native phonetic categories. This asymmetry is argued to be related to the large phonetic variability of /r/ in both Dutch and English.

Abstract

Numerous studies in psychology, cognitive neuroscience and psycholinguistics have used pictures of objects as stimulus materials. Currently, authors engaged in cross-linguistic work or wishing to run parallel studies at multiple sites where different languages are spoken must rely on rather small sets of black-and-white or colored line drawings. These sets are increasingly experienced as being too limited. Therefore, we constructed a new set of 750 colored pictures of concrete concepts. This set, MultiPic, constitutes a new valuable tool for cognitive scientists investigating language, visual perception, memory and/or attention in monolingual or multilingual populations. Importantly, the MultiPic databank has been normed in six different European languages (British English, Spanish, French, Dutch, Italian and German). All stimuli and norms are freely available at http://www.bcbl.eu/databases/multipic

Abstract

Although laughter forms an important part of human non-verbal communication, it has received rather less attention than it deserves in both the experimental and the observational literatures. Relaxed social (Duchenne) laughter is associated with feelings of wellbeing and heightened affect, a proximate expla- nation for which might be the release of endorphins. We tested this hypothesis in a series of six experimental studies in both the laboratory (watching videos) and naturalistic contexts (watching stage performances), using change in pain threshold as an assay for endorphin release. The results show that pain thresholds are significantly higher after laughter than in the control condition. This pain-tolerance effect is due to laughter itself and not simply due to a change in positive affect. We suggest that laughter, through an endorphin-mediated opiate effect, may play a crucial role in social bonding.

Abstract

In the absence of comparative method reconstruction, high rate of lexical cognate candidates is often used as evidence for relationships between languages. This paper uses the Oswalt Monte Carlo Shift test (a variant of Oswalt 1970) to explore the statistical basis of the claim that the four Papuan languages of the Solomon Islands have greater than chance levels of lexical similarity. The results of this test initially appear to show that the lexical similarities between the Central Solomons Papuan languages are statistically significant, but the effect disappears when known Oceanic loanwords are removed. The Oswalt Monte Carlo test is a useful technique to test a claim of greater than chance similarity between any two word lists — with the proviso that undetected loanwords strongly increase the chance of spurious identification.

Abstract

A review of "Anthropological papers of the University of Alaska: The Dene-Yeniseian connection." Ed. by JAMES KARI and BEN A. POTTER Fairbanks, AK: University of Alaska, Fairbanks. 2010. Pp. vi, 363.

Abstract

The Core Trustworthy Data Repository Requirements were developed by the DSA–WDS Partnership Working Group on Repository Audit and Certification, a Working Group (WG) of the Research Data Alliance . The goal of the effort was to create a set of harmonized common requirements for certification of repositories at the core level, drawing from criteria already put in place by the Data Seal of Approval (DSA: www.datasealofapproval.org) and the ICSU World Data System (ICSU-WDS: https://www.icsu-wds.org/services/certification). An additional goal of the project was to develop common procedures to be implemented by both DSA and ICSU-WDS. Ultimately, the DSA and ICSU-WDS plan to collaborate on a global framework for repository certification that moves from the core to the extended (nestor-Seal DIN 31644), to the formal (ISO 16363) level.

Abstract

While the importance of mental simulation during literary reading has long been recognized, we know little about the factors that determine when, what, and how much readers mentally simulate. Here we investigate the influence of a specific text characteristic, namely verb tense (present vs. past), on mental simulation during literary reading. Verbs usually denote the actions and events that take place in narratives and hence it is hypothesized that verb tense will influence the amount of mental simulation elicited in readers. Although the present tense is traditionally considered to be more “vivid”, this study is one of the first to experimentally assess this claim. We recorded eye-movements while subjects read stories in the past or present tense and collected data regarding self-reported levels of mental simulation, transportation and appreciation. We found no influence of tense on any of the offline measures. The eye-tracking data showed a slightly more complex pattern. Although we did not find a main effect of sensorimotor simulation content on reading times, we were able to link the degree to which subjects slowed down when reading simulation eliciting content to offline measures of attention and transportation, but this effect did not interact with the tense of the story. Unexpectedly, we found a main effect of tense on reading times per word, with past tense stories eliciting longer first fixation durations and gaze durations. However, we were unable to link this effect to any of the offline measures. In sum, this study suggests that tense does not play a substantial role in the process of mental simulation elicited by literary stories.

Abstract

Approach and avoidance are two behavioral responses that make people tend to approach positive and avoid negative situations. This study examines whether postural behavior is influenced by the affective state of pictures. While standing on the Wii™ Balance Board, participants viewed pleasant, neutral, and unpleasant pictures (passively viewing phase). Then they had to move their body to the left or the right (lateral movement phase) to make the next picture appear. We recorded movements in the anterior-posterior direction to examine approach and avoidant behavior. During passively viewing, people approached pleasant pictures. They avoided unpleasant ones while they made a lateral movement. These findings provide support for the idea that we tend to approach positive and avoid negative situations.

Abstract

Predictive language processing is often studied by measuring eye movements as participants look at objects on a computer screen while they listen to spoken sentences. The use of this variant of the visual world paradigm has shown that information encountered by a listener at a spoken verb can give rise to anticipatory eye movements to a target object, which is taken to indicate that people predict upcoming words. The ecological validity of such findings remains questionable, however, because these computer experiments used two-dimensional (2D) stimuli that are mere abstractions of real world objects. Here we present a visual world paradigm study in a three-dimensional (3D) immersive virtual reality environment. Despite significant changes in the stimulus material and the different mode of stimulus presentation, language-mediated anticipatory eye movements were observed. These findings thus indicate prediction of upcoming words in language comprehension in a more naturalistic setting where natural depth cues are preserved. Moreover, the results confirm the feasibility of using eye-tracking in rich and multimodal 3D virtual environments.

Abstract

Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.

Abstract

Migraine is a common episodic brain disorder characterized by recurrent attacks of severe unilateral headache and additional neurological symptoms. Two main migraine types can be distinguished based on the presence of aura symptoms that can accompany the headache: migraine with aura and migraine without aura. Multiple genetic and environmental factors confer disease susceptibility. Recent genome-wide association studies (GWAS) indicate that migraine susceptibility genes are involved in various pathways, including neurotransmission, which have already been implicated in genetic studies of monogenic familial hemiplegic migraine, a subtype of migraine with aura. Methods To further explore the genetic background of migraine, we performed a gene set analysis of migraine GWAS data of 4954 clinic-based patients with migraine, as well as 13,390 controls. Curated sets of synaptic genes and sets of genes predominantly expressed in three glial cell types (astrocytes, microglia and oligodendrocytes) were investigated. Discussion Our results show that gene sets containing astrocyte- and oligodendrocyte-related genes are associated with migraine, which is especially true for gene sets involved in protein modification and signal transduction. Observed differences between migraine with aura and migraine without aura indicate that both migraine types, at least in part, seem to have a different genetic background.

Abstract

In the present article, we introduce the continuous unified electronic (CUE) diary method, a longitudinal, event-based, electronic parent report method that allows real-time recording of infant and child behavior in natural contexts. Thirty-nine expectant mothers were trained to identify and record target behaviors into programmed handheld computers. From birth to 18 months, maternal reporters recorded the initial, second, and third occurrences of seven target motor behaviors: palmar grasp, rolls from side to back, reaching when sitting, pincer grip, crawling, walking, and climbing stairs. Compliance was assessed as two valid entries per behavior: 97 % of maternal reporters met compliance criteria. Reliability was assessed by comparing diary entries with researcher assessments for three of the motor behaviors: palmar grasp, pincer grip and walking. A total of 81 % of maternal reporters met reliability criteria. For those three target behaviors, age of emergence was compared across data from the CUE diary method and researcher assessments. The CUE diary method was found to detect behaviors earlier and with greater sensitivity to individual differences. The CUE diary method is shown to be a reliable methodological tool for studying processes of change in human development.

Abstract

Book review of James R. Hurford THE ORIGINS OF GRAMMAR 791pp. Oxford University Press. ISBN 978 0 19 920787 9

Abstract

Noise-vocoded speech is a spectrally highly degraded signal, but it preserves the temporal envelope of speech. Listeners vary considerably in their ability to adapt to this degraded speech signal. Here, we hypothesized that individual differences in adaptation to vocoded speech should be predictable by non-speech auditory, cognitive, and neuroanatomical factors. We tested eighteen normal-hearing participants in a short-term vocoded speech-learning paradigm (listening to 100 4-band-vocoded sentences). Non-speech auditory skills were assessed using amplitude modulation (AM) rate discrimination, where modulation rates were centered on the speech-relevant rate of 4 Hz. Working memory capacities were evaluated (digit span and nonword repetition), and structural MRI scans were examined for anatomical predictors of vocoded speech learning using voxel-based morphometry. Listeners who learned faster to understand degraded speech also showed smaller thresholds in the AM discrimination task. This ability to adjust to degraded speech is furthermore reflected anatomically in increased volume in an area of the left thalamus (pulvinar) that is strongly connected to the auditory and prefrontal cortices. Thus, individual non-speech auditory skills and left thalamus grey matter volume can predict how quickly a listener adapts to degraded speech.

Abstract

One of the fundamental issues for a language is its capacity to express
argument structure unambiguously. This study presents evidence
for the emergence and the incremental development of these
basic mechanisms in a newly developing language, Central Taurus
Sign Language. Our analyses identify universal patterns in both the
emergence and development of these mechanisms and in languagespecific
trajectories.

Abstract

This paper discusses four experiments on Dutch which show that distinctive phonological features differ in their relevance for word recognition. The relevance of a feature for word recognition depends on its phonological stability, that is, the extent to which that feature is generally realized in accordance with its lexical specification in the relevant word position. If one feature value is uninformative, all values of that feature are less relevant for word recognition, with the least informative feature being the least relevant. Features differ in their relevance both in spoken and written word recognition, though the differences are more pronounced in auditory lexical decision than in self-paced reading.

Abstract

This study addresses the question to what extent the production of regular past tense forms in Dutch is a¤ected by analogical processes. We report an experiment in which native speakers of Dutch listened to existing regular verbs over headphones, and had to indicate which of the past tense allomorphs, te or de, was appropriate for these verbs. According to generative analyses, the choice between the two su‰xes is completely regular and governed by the underlying [voice]-specification of the stem-final segment. In this approach, no analogical e¤ects are expected. In connectionist and analogical approaches, by contrast, the phonological similarity structure in the lexicon is expected to a¤ect lexical processing. Our experimental results support the latter approach: all participants created more nonstandard past tense forms, produced more inconsistency errors, and responded more slowly for verbs with stronger analogical support for the nonstandard form.

Abstract

Amsterdam klinkt in informele gesprekken vaak als Amsdam en Rotterdam als Rodam, zonder dat de meeste moedertaalsprekers zich daar bewust van zijn. In alledaagse situaties valt een aanzienlijk deel van de klanken weg. Daarnaast worden veel klanken zwakker gearticuleerd (bijvoorbeeld een d als een j, als de mond niet helemaal afgesloten wordt). Het lijkt waarschijnlijk dat deze half uitgesproken woorden een probleem vormen voor tweedetaalleerders. Gereduceerde vormen kunnen immers sterk afwijken van de vormen die deze leerders geleerd hebben. Of dit werkelijk zo is, hebben de auteurs onderzocht in twee studies. Voordat ze deze twee studies bespreken, vertellen ze eerst kort iets over de verschillende typen reducties die voorkomen.

Abstract

We investigated whether regional differences in the native language (L1) influence the perception of second language (L2) sounds. Many cross-language and L2 perception studies have assumed that the degree of acoustic similarity between L1 and L2 sounds predicts cross-linguistic and L2 performance. The present study tests this assumption by examining the perception of the English contrast between /e{open}/ and /æ/ in native speakers of Dutch spoken in North Holland (the Netherlands) and in East- and West-Flanders (Belgium). A Linear Discriminant Analysis on acoustic data from both dialects showed that their differences in vowel production, as reported in and Adank, van Hout, and Van de Velde (2007), should influence the perception of the L2 vowels if listeners focus on the vowels' acoustic/auditory properties. Indeed, the results of categorization tasks with Dutch or English vowels as response options showed that the two listener groups differed as predicted by the discriminant analysis. Moreover, the results of the English categorization task revealed that both groups of Dutch listeners displayed the asymmetric pattern found in previous word recognition studies, i.e. English /æ/ was more frequently confused with English /e{open}/ than the reverse. This suggests a strong link between previous L2 word learning results and the present L2 perceptual assimilation patterns.

Abstract

FOXP transcription factors play important roles in neurodevelopment, but little is known about how their transcriptional activity is regulated. FOXP proteins cooperatively regulate gene expression by forming homo- and hetero-dimers with each other. Physical associations with other transcription factors might also modulate the functions of FOXP proteins. However, few FOXP-interacting transcription factors have been identified so far. Therefore, we sought to discover additional transcription factors that interact with the brain-expressed FOXP proteins, FOXP1, FOXP2 and FOXP4, through affinity-purifications of protein complexes followed by mass spectrometry. We identified seven novel FOXP-interacting transcription factors (NR2F1, NR2F2, SATB1, SATB2, SOX5, YY1 and ZMYM2), five of which have well-established roles in cortical development. Accordingly, we found that these transcription factors are co-expressed with FoxP2 in the deep layers of the cerebral cortex and also in the Purkinje cells of the cerebellum, suggesting that they may cooperate with the FoxPs to regulate neural gene expression in vivo. Moreover, we demonstrated that etiological mutations of FOXP1 and FOXP2, known to cause neurodevelopmental disorders, severely disrupted the interactions with FOXP-interacting transcription factors. Additionally, we pinpointed specific regions within FOXP2 sequence involved in mediating these interactions. Thus, by expanding the FOXP interactome we have uncovered part of a broader neural transcription factor network involved in cortical development, providing novel molecular insights into the transcriptional architecture underlying brain development and neurodevelopmental disorders.

Abstract

Nuclear orphan receptor TLX (NR2E1) functions primarily as a transcriptional repressor and its pivotal role in brain development, glioblastoma, mental retardation and retinopathologies make it an attractive drug target. TLX is expressed in the neural stem cells (NSCs) of the subventricular zone and the hippocampus subgranular zone, regions with persistent neurogenesis in the adult brain, and functions as an essential regulator of NSCs maintenance and self-renewal. Little is known about the TLX social network of interactors and only few TLX coregulators are described. To identify and characterize novel TLX-binders and possible coregulators, we performed yeast-two-hybrid (Y2H) screens of a human adult brain cDNA library using different TLX constructs as baits. Our screens identified multiple clones of Atrophin-1 (ATN1), a previously described TLX interactor. In addition, we identified an interaction with the oncoprotein and zinc finger transcription factor BCL11A (CTIP1/Evi9), a key player in the hematopoietic system and in major blood-related malignancies. This interaction was validated by expression and coimmunoprecipitation in human cells. BCL11A potentiated the transrepressive function of TLX in an in vitro reporter gene assay. Our work suggests that BCL11A is a novel TLX coregulator that might be involved in TLX-dependent gene regulation in the brain.

Abstract

Mutations affecting the transcription factor FOXP2 cause a rare form of severe speech and language disorder. Although it is clear that sufficient FOXP2 expression is crucial for normal brain development, little is known about how this transcription factor is regulated. To investigate post-translational mechanisms for FOXP2 regulation, we searched for protein interaction partners of FOXP2, and identified members of the PIAS family as novel FOXP2 interactors. PIAS proteins mediate post-translational modification of a range of target proteins with small ubiquitin-like modifiers (SUMOs). We found that FOXP2 can be modified with all three human SUMO proteins and that PIAS1 promotes this process. An aetiological FOXP2 mutation found in a family with speech and language disorder markedly reduced FOXP2 SUMOylation. We demonstrate that FOXP2 is SUMOylated at a single major site, which is conserved in all FOXP2 vertebrate orthologues and in the paralogues FOXP1 and FOXP4. Abolishing this site did not lead to detectable changes in FOXP2 subcellular localization, stability, dimerization or transcriptional repression in cellular assays, but the conservation of this site suggests a potential role for SUMOylation in regulating FOXP2 activity in vivo.

Abstract

Human language offers rich ways to track, compare, and engage the attentional and epistemic states of interlocutors. While this task is central to everyday communication, our knowledge of the cross-linguistic grammatical means that target such intersubjective coordination has remained basic. In two serialised papers, we introduce the term ‘engagement’ to refer to grammaticalised means for encoding the relative mental directedness of speaker and addressee towards an entity or state of affairs, and describe examples of engagement systems from around the world. Engagement systems express the speaker’s assumptions about the degree to which their attention or knowledge is shared (or not shared) by the addressee. Engagement categories can operate at the level of entities in the here-and-now (deixis), in the unfolding discourse (definiteness vs indefiniteness), entire event-depicting propositions (through markers with clausal scope), and even metapropositions (potentially scoping over evidential values). In this first paper, we introduce engagement and situate it with respect to existing work on intersubjectivity in language. We then explore the key role of deixis in coordinating attention and expressing engagement, moving through increasingly intercognitive deictic systems from those that focus on the the location of the speaker, to those that encode the attentional state of the addressee.

Abstract

Engagement systems encode the relative accessibility of an entity or state of affairs to the speaker and addressee, and are thus underpinned by our social cognitive capacities. In our first foray into engagement (Part 1), we focused on specialised semantic contrasts as found in entity-level deictic systems, tailored to the primal scenario for establishing joint attention. This second paper broadens out to an exploration of engagement at the level of events and even metapropositions, and comments on how such systems may evolve. The languages Andoke and Kogi demonstrate what a canonical system of engagement with clausal scope looks like, symmetrically assigning ‘knowing’ and ‘unknowing’ values to speaker and addressee. Engagement is also found cross-cutting other epistemic categories such as evidentiality, for example where a complex assessment of relative speaker and addressee awareness concerns the source of information rather than the proposition itself. Data from the language Abui reveal that one way in which engagement systems can develop is by upscoping demonstratives, which normally denote entities, to apply at the level of events. We conclude by stressing the need for studies that focus on what difference it makes, in terms of communicative behaviour, for intersubjective coordination to be managed by engagement systems as opposed to other, non-grammaticalised means.

Abstract

Childhood adversity (CA) has been associated with long-term structural brain alterations and an increased risk for psychiatric disorders. Evidence is emerging that subtypes of CA, varying in the dimensions of threat and deprivation, lead to distinct neural and behavioral outcomes. However, these specific associations have yet to be established without potential confounders such as psychopathology. Moreover, differences in neural development and psychopathology necessitate the exploration of sexual dimorphism. Young healthy adult subjects were selected based on history of CA from a large database to assess gray matter (GM) differences associated with specific subtypes of adversity. We compared voxel-based morphometry data of subjects reporting specific childhood exposure to abuse (n = 127) or deprivation (n = 126) and a similar sized group of controls (n = 129) without reported CA. Subjects were matched on age, gender, and educational level. Differences between CA subtypes were found in the fusiform gyrus and middle occipital gyms, where subjects with a history of deprivation showed reduced GM compared with subjects with a history of abuse. An interaction between sex and CA subtype was found. Women showed less GM in the visual posterior precuneal region after both subtypes of CA than controls. Men had less GM in the postcentral gyms after childhood deprivation compared with abuse. Our results suggest that even in a healthy population, CA subtypes are related to specific alterations in brain structure, which are modulated by sex. These findings may help understand neurodevelopmental consequences related to CA

Abstract

We make the case that, contra standard assumption in linguistic theory, the sound systems of human languages are adapted to their environment. While not conclusive, this plausible case rests on several points discussed in this work: First, human behavior is generally adaptive and the assumption that this characteristic does not extend to linguistic structure is empirically unsubstantiated. Second, animal communication systems are well known to be adaptive within species across a variety of phyla and taxa. Third, research in laryngology demonstrates clearly that ambient desiccation impacts the performance of the human vocal cords. The latter point motivates a clear, testable hypothesis with respect to the synchronic global distribution of language types. Fourth, this hypothesis is supported in our own previous work, and here we discuss new approaches being developed to further explore the hypothesis. We conclude by suggesting that the time has come to more substantively examine the possibility that linguistic sound systems are adapted to their physical ecology

Abstract

We begin by thanking the respondents for their thoughtful comments and insightful leads. The overall impression we are left with by this exchange is one of progress, even if no consensus remains about the particular hypothesis we raise. To date, there has been a failure to seriously engage with the possibility that humans might adapt their communication to ecological factors. In these exchanges, we see signs of serious engagement with that possibility. Most respondents expressed agreement with the notion that our central premise—that language is ecologically adaptive—requires further exploration and may in fact be operative. We are pleased to see this shift in discourse, and to witness a heightening appreciation of possible ecological constraints on language evolution. It is that shift in discourse that represents progress in our view. Our hope is that future work will continue to explore these issues, paying careful attention to the fact that the human larynx is clearly sensitive to characteristics of ambient air. More generally, we think this exchange is indicative of the growing realization that inquiries into language development must consider potential external factors (see Dediu 2015)...

Abstract

A principal components analysis of the ten scales of the Worry Questionnaire revealed the existence of major worry factors or domains of social evaluation and physical threat, and these factors were confirmed in a subsequent item analysis. Those high in trait anxiety had much higher scores on the Worry Questionnaire than those low in trait anxiety, especially on those scales relating to social evaluation. Scores on the Marlowe-Crowne Social Desirability Scale were negatively related to worry frequency. However, groups of low-anxious and repressed individucores did not differ in worry. It was concluded that worry, especals formed on the basis of their trait anxiety and social desirability sially in the social evaluation domain, is of fundamental importance to trait anxiety.

Abstract

In contrast to the large amount of dual-task research investigating the coordination of a linguistic and a nonlinguistic
task, little research has investigated how two linguistic tasks are coordinated. However, such research
would greatly contribute to our understanding of how interlocutors combine speech planning and listening in
conversation. In three dual-task experiments we studied how participants coordinated the processing of an
auditory stimulus (S1), which was either a syllable or a tone, with selecting a name for a picture (S2). Two SOAs,
of 0 ms and 1000 ms, were used. To vary the time required for lexical selection and to determine when lexical
selection took place, the pictures were presented with categorically related or unrelated distractor words. In
Experiment 1 participants responded overtly to both stimuli. In Experiments 2 and 3, S1 was not responded to
overtly, but determined how to respond to S2, by naming the picture or reading the distractor aloud. Experiment
1 yielded additive effects of SOA and distractor type on the picture naming latencies. The presence of semantic
interference at both SOAs indicated that lexical selection occurred after response selection for S1. With respect to
the coordination of S1 and S2 processing, Experiments 2 and 3 yielded inconclusive results. In all experiments,
syllables interfered more with picture naming than tones. This is likely because the syllables activated phonological
representations also implicated in picture naming. The theoretical and methodological implications of the
findings are discussed.

Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Abstract

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P<8.5 × 10−5), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia

Abstract

In the current eye-tracking study, we explored whether 12-month-old infants can predict others' social preferences. We showed infants scenes in which two characters alternately helped or hindered an agent in his goal of climbing a hill. In a control condition, the two characters moved up and down the hill in identical ways to the helper and hinderer but did not make contact with the agent; thus, they did not cause him to reach or not reach her or his goal. Following six alternating familiarization trials of helping and hindering interactions (help-hinder condition) or up and down interactions (up-down condition), infants were shown one test trial in which they could visually anticipate the agent approaching one of the two characters. As predicted, infants in the help-hinder condition made significantly more visual anticipations toward the helping than hindering character, suggesting that they predicted the agent to approach the helping character. In contrast, infants revealed no difference in visual anticipations between the up and down characters. The up-down condition served to control for low-level perceptual explanations of the results for the help-hinder condition. Thus, together the results reveal that 12-month-old infants make predictions about others' behaviour and social preferences from a third-party perspective.

Abstract

Across two experiments, we examined the relationship between 18-month-old infants’ mimicry and social behavior – particularly invitations to play with an adult play partner. In Experiment 1, we manipulated whether an adult mimicked the infant's play or not during an initial play phase. We found that infants who had been mimicked were subsequently more likely to invite the adult to join their play with a new toy. In addition, they reenacted marginally more steps from a social learning demonstration she gave. In Experiment 2, infants had the chance to spontaneously mimic the adult during the play phase. Complementing Experiment 1, those infants who spent more time mimicking the adult were more likely to invite her to play with a new toy. This effect was specific to play and not apparent in other communicative acts, such as directing the adult's attention to an event or requesting toys. Together, the results suggest that infants use mimicry as a tool to establish social connections with others and that mimicry has specific influences on social behaviors related to initiating subsequent joint interactions.

Abstract

Infants imitate others’ individual actions, but do they also replicate others’ joint activities? To examine whether observing joint action influences infants’ initiation of joint action, forty-eight 18-month-old infants observed object demonstrations by 2 models acting together (joint action), 2 models acting individually (individual action), or 1 model acting alone (solitary action). Infants’ behavior was examined after they were given each object. Infants in the joint action condition attempted to initiate joint action more often than infants in the other conditions, yet they were equally likely to communicate for other reasons and to imitate the demonstrated object-directed actions. The findings suggest that infants learn to replicate others’ joint activity through observation, an important skill for cultural transmission of shared practices.

Abstract

We examine representations of time among the Mianmin of Papua New Guinea. We begin by describing the patterns of spatial and temporal reference in Mian. Mian uses a system of spatial terms that derive from the orientation and direction of the Hak and Sek rivers and the surrounding landscape. We then report results from a temporal arrangement task administered to a group of Mian speakers. The results reveal evidence for a variety of temporal representations. Some participants arranged time with respect to their bodies (left to right or toward the body). Others arranged time as laid out on the landscape, roughly along the east/west axis (either east to west or west to east). This absolute pattern is consistent both with the axis of the motion of the sun and the orientation of the two rivers, which provides the basis for spatial reference in the Mian language. The results also suggest an increase in left-to-right temporal representations with increasing years of formal education (and the reverse pattern for absolute spatial representations for time). These results extend previous work on spatial representations for time to a new geographical region, physical environment, and linguistic and cultural system.

Abstract

Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.

Abstract

Objectives: Our goal was to assess MR image uniformity by investigating aspects influencing said uniformity via a method laid out by the National Electrical Manufacturers Association (NEMA).
Methods: Six metallic materials embedded in a glass phantom were scanned (i.e. Au, Ag, Al, Au-Ag-Pd alloy, Ti and Co-Cr alloy) as well as a reference image. Sequences included spin echo (SE) and gradient echo (GRE) scanned in three planes (i.e. axial, coronal, and sagittal). Moreover, three surface coil types (i.e. head and neck, Brain, and temporomandibular joint coils) and two image correction methods (i.e. surface coil intensity correction or SCIC, phased array uniformity enhancement or PURE) were employed to evaluate their effectiveness on image uniformity. Image uniformity was assessed using the National Electrical Manufacturers Association peak-deviation non-uniformity method.
Results: Results showed that temporomandibular joint coils elicited the least uniform image and brain coils outperformed head and neck coils when metallic materials were present. Additionally, when metallic materials were present, spin echo outperformed gradient echo especially for Co-Cr (particularly in the axial plane). Furthermore, both SCIC and PURE improved image uniformity compared to uncorrected images, and SCIC slightly surpassed PURE when metallic metals were present. Lastly, Co-Cr elicited the least uniform image while other metallic materials generally showed similar patterns (i.e. no significant deviation from images without metallic metals).
Conclusions: Overall, a quantitative understanding of the factors influencing MR image uniformity (e.g. coil type, imaging method, metal susceptibility, and post-hoc correction method) is advantageous to optimize image quality, assists clinical interpretation, and may result in improved medical and dental care.

Abstract

This article presents the ventriloquist paradigm, an innovative method for studying speech processing in dialogue whereby participants interact face-to-face with a confederate who, unbeknownst to them, communicates by playing pre-recorded speech. Results show that the paradigm convinces more participants that the speech is live than a setup without the face-to-face element, and it elicits more interactive conversation than a setup in which participants believe their partner is a computer. By reconciling the ecological validity of a conversational context with full experimental control over phonetic exposure, the paradigm offers a wealth of new possibilities for studying speech processing in interaction.

Abstract

A long-standing debate in cognitive neurosciences concerns the effect of music on verbal learning and memory. Research in this field has largely provided conflicting results in both clinical as well as non-clinical populations. Although several studies have shown a positive effect of music on the encoding and retrieval of verbal stimuli, music has also been suggested to hinder mnemonic performance by dividing attention. In an attempt to explain this conflict, we review the most relevant literature on the effects of music on verbal learning and memory. Furthermore, we specify several mechanisms through which music may modulate these cognitive functions. We suggest that the extent to which music boosts these cognitive functions relies on experimental factors, such as the relative complexity of musical and verbal stimuli employed. These factors should be carefully considered in further studies, in order to reliably establish how and when music boosts verbal memory and learning. The answers to these questions are not only crucial for our knowledge of how music influences cognitive and brain functions, but may have important clinical implications. Considering the increasing number of approaches using music as a therapeutic tool, the importance of understanding exactly how music works can no longer be underestimated.

Abstract

The constituents of attractiveness differ across the sexes. Many relevant traits are dimorphic, suggesting that they are the product of intersexual selection. However, direction of causality is generally difficult to determine, as aesthetic criteria can as readily result from, as cause, dimorphism. Women have proportionately smaller feet than men. Prior work on the role of foot size in attractiveness suggests an asymmetry across the sexes, as small feet enhance female appearance, yet average, rather than large, feet are preferred on men. Previous investigations employed crude stimuli and limited samples. Here, we report on multiple cross-cultural studies designed to overcome these limitations. With the exception of one rural society, we find that small foot size is preferred when judging women, yet no equivalent preference applies to men. Similarly, consonant with the thesis that a preference for youth underlies intersexual selection acting on women, we document an inverse relationship between foot size and perceived age. Examination of preferences regarding, and inferences from, feet viewed in isolation suggests different roles for proportionality and absolute size in judgments of female and male bodies. Although the majority of these results bolster the conclusion that pedal dimorphism is the product of intersexual selection, the picture is complicated by the reversal of the usual preference for small female feet found in one rural society. While possibly explicable in terms of greater emphasis on female economic productivity relative to beauty, the latter finding underscores the importance of employing diverse samples when exploring postulated evolved aesthetic preferences.

Abstract

Across a wide range of animal taxa, prosodic modulation of the voice can express emotional information and is used to coordinate vocal interactions between multiple individuals. Within a comparative approach to animal communication systems, I hypothesize that the ability for emotional and interactional prosody (EIP) paved the way for the evolution of linguistic prosody – and perhaps also of music, continuing to play a vital role in the acquisition of language. In support of this hypothesis, I review three research fields: (i) empirical studies on the adaptive value of EIP in non-human primates, mammals, songbirds, anurans, and insects; (ii) the beneficial effects of EIP in scaffolding language learning and social development in human infants; (iii) the cognitive relationship between linguistic prosody and the ability for music, which has often been identified as the evolutionary precursor of language.

Abstract

The evolutionary origins of music are much debated. One theory holds that the ability to produce complex musical sounds might reflect qualities that are relevant in mate choice contexts and hence, that music is functionally analogous to the sexually-selected acoustic displays of some animals. If so, women may be expected to show heightened preferences for more complex music when they are most fertile. Here, we used computer-generated musical pieces and ovulation predictor kits to test this hypothesis. Our results indicate that women prefer more complex music in general; however, we found no evidence that their preference for more complex music increased around ovulation. Consequently, our findings are not consistent with the hypothesis that a heightened preference/bias in women for more complex music around ovulation could have played a role in the evolution of music. We go on to suggest future studies that could further investigate whether sexual selection played a role in the evolution of this universal aspect of human culture.

Abstract

Temporal regularities in speech, such as interdependencies in the timing of speech events, are thought to scaffold early acquisition of the building blocks in speech. By providing on-line clues to the location and duration of upcoming syllables, temporal structure may aid segmentation and clustering of continuous speech into separable units. This hypothesis tacitly assumes that learners exploit predictability in the temporal structure of speech. Existing measures of speech timing tend to focus on first-order regularities among adjacent units, and are overly sensitive to idiosyncrasies in the data they describe. Here, we compare several statistical methods on a sample of 18 languages, testing whether syllable occurrence is predictable over time. Rather than looking for differences between languages, we aim to find across languages (using clearly defined acoustic, rather than orthographic, measures), temporal predictability in the speech signal which could be exploited by a language learner. First, we analyse distributional regularities using two novel techniques: a Bayesian ideal learner analysis, and a simple distributional measure. Second, we model higher-order temporal structure—regularities arising in an ordered series of syllable timings—testing the hypothesis that non-adjacent temporal structures may explain the gap between subjectively-perceived temporal regularities, and the absence of universally-accepted lower-order objective measures. Together, our analyses provide limited evidence for predictability at different time scales, though higher-order predictability is difficult to reliably infer. We conclude that temporal predictability in speech may well arise from a combination of individually weak perceptual cues at multiple structural levels, but is challenging to pinpoint.

Abstract

Between 2 and 5% of children who are otherwise unimpaired have significant difficulties in acquiring expressive and/or receptive language, despite adequate intelligence and opportunity. While twin studies indicate a significant role for genetic factors in developmental disorders of speech and language, the majority of families segregating such disorders show complex patterns of inheritance, and are thus not amenable for conventional linkage analysis. A rare exception is the KE family, a large three-generation pedigree in which approximately half of the members are affected with a severe speech and language disorder which appears to be transmitted as an autosomal dominant monogenic trait. This family has been widely publicised as suffering primarily from a defect in the use of grammatical suffixation rules, thus supposedly supporting the existence of genes specific to grammar. The phenotype, however, is broader in nature, with virtually every aspect of grammar and of language affected. In addition, affected members have a severe orofacial dyspraxia, and their speech is largely incomprehensible to the naive listener. We initiated a genome-wide search for linkage in the KE family and have identified a region on chromosome 7 which co-segregates with the speech and language disorder (maximum lod score = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance. Further analysis of microsatellites from within the region enabled us to fine map the locus responsible (designated SPCH1) to a 5.6-cM interval in 7q31, thus providing an important step towards its identification. Isolation of SPCH1 may offer the first insight into the molecular genetics of the developmental process that culminates in speech and language.

Abstract

Dent's disease, an X-linked renal tubular disorder, is a form of Fanconi syndrome which is characterized by proteinuria, hypercalciuria, nephrocalcinosis, kidney stones and renal failure. Previous studies localised the gene responsible to Xp11.22, within a microdeletion involving the hypervariable locus DXS255. Further analysis using new probes which flank this locus indicate that the deletion is less than 515 kb. A 185 kb YAC containing DXS255 was used to screen a cDNA library from adult kidney in order to isolate coding sequences falling within the deleted region which may be implicated in the disease aetiology. We identified two clones which are evolutionarily conserved, and detect a 9.5 kb transcript which is expressed predominantly in the kidney. Sequence analysis of 780 bp of ORF from the clones suggests that the identified gene, termed hCIC-K2, encodes a new member of the CIC family of voltage-gated chloride channels. Genomic fragments detected by the cDNA clones are completely absent in patients who have an associated microdeletion. On the basis of the expression pattern, proposed function and deletion mapping, hCIC-K2 is a strong candidate for Dent's disease.

Abstract

Research on pattern perception and rule learning, grounded in formal language theory (FLT) and using artificial grammar learning paradigms, has exploded in the last decade. This approach marries empirical research conducted by neuroscientists, psychologists and ethologists with the theory of computation and FLT, developed by mathematicians, linguists and computer scientists over the last century. Of particular current interest are comparative extensions of this work to non-human animals, and neuroscientific investigations using brain imaging techniques. We provide a short introduction to the history of these fields, and to some of the dominant hypotheses, to help contextualize these ongoing research programmes, and finally briefly introduce the papers in the current issue.

Abstract

Systematic investigations into the role of semantics in the speech production process have remained elusive. This special issue aims at moving forward toward a more detailed account of how precisely conceptual information is used to access the lexicon in speaking and what corresponding format of conceptual representations needs to be assumed. The studies presented in this volume investigated effects of conceptual processing on different processing stages of language production, including sentence formulation, lemma selection, and word form access.

Abstract

No abstract is available for this article

Abstract

From the study of sign languages we know that the visual modality robustly supports the encoding of conventionalized linguistic elements, yet while the same possibility exists for the visual bodily behavior of speakers of spoken languages, such practices are often referred to as ‘gestural’ and are not usually described in linguistic terms. This article describes a practice of speakers of the Brazilian indigenous language Nheengatú of pointing to positions along the east-west axis of the sun’s arc for time-of-day reference, and illustrates how it satisfies any of the common criteria for linguistic elements, as a system of standardized and productive form-meaning pairings whose contributions to propositional meaning remain stable across contexts. First, examples from a video corpus of natural speech demonstrate these conventionalized properties of Nheengatú time reference across multiple speakers. Second, a series of video-based elicitation stimuli test several dimensions of its conventionalization for nine participants. The results illustrate why modality is not an a priori reason that linguistic properties cannot develop in the visual practices that accompany spoken language. The conclusion discusses different possible morphosyntactic and pragmatic analyses for such conventionalized visual elements and asks whether they might be more crosslinguistically common than we presently know.

Abstract

It has long been claimed that there is no lexical field of smell, and that smell is of too little validity to be expressed in grammar. We demonstrate both claims are false. The Cha'palaa language (Ecuador) has at least 15 abstract smell terms, each of which is formed using a type of classifier previously thought not to exist. Moreover, using conversational corpora we show that Cha'palaa speakers also talk about smell more than Imbabura Quechua and English speakers. Together, this shows how language and social interaction may jointly reflect distinct cultural orientations towards sensory experience in general and olfaction in particular.

Abstract

This article expands the study of other-initiated repair in conversation—when one party
signals a problemwith producing or perceiving another’s turn at talk—into the domain
of visual bodily behavior. It presents one primary cross-linguistic finding about the
timing of visual bodily behavior in repair sequences: if the party who initiates repair
accompanies their turn with a “hold”—when relatively dynamic movements are
temporarily andmeaningfully held static—this positionwill not be disengaged until the
problem is resolved and the sequence closed. We base this finding on qualitative and
quantitative analysis of corpora of conversational interaction from three unrelated languages representing two different modalities: Northern Italian, the Cha’palaa language of Ecuador, and Argentine Sign Language. The cross-linguistic similarities
uncovered by this comparison suggest that visual bodily practices have been
semiotized for similar interactive functions across different languages and modalities
due to common pressures in face-to-face interaction.

Abstract

Gratitude is argued to have evolved to motivate and maintain social reciprocity among people, and to be linked to a wide range of positive effects — social, psychological, and even physical. But is socially reciprocal behaviour dependent on the expression of gratitude, for example by saying "thank you" as in English? Current research has not included cross-cultural elements, and has tended to conflate gratitude as an emotion with gratitude as a linguistic practice, as might appear to be the case in English. Here we ask to what extent people actually express gratitude in different societies by focussing on episodes of everyday life where someone obtains a good, service, or support from another, and comparing these episodes across eight languages from five continents. What we find is that expressions of gratitude in these episodes are remarkably rare, suggesting that social reciprocity in everyday life relies on tacit understandings of people’s rights and duties surrounding mutual assistance and collaboration. At the same time, we also find minor cross-cultural variation, with slightly higher rates in Western European languages English and Italian, showing that universal tendencies of social reciprocity should not be conflated with more culturally variable practices of expressing gratitude. Our study complements previous experimental and culture-specific research on social reciprocity with a systematic comparison of audiovisual corpora of naturally occurring social interaction from different cultures from around the world.

Abstract

Understanding the progression of neurological diseases is vital for accurate and early diagnosis and treatment planning. We introduce a new characterization of disease progression, which describes the disease as a series of events, each comprising a significant change in patient state. We provide novel algorithms to learn the event ordering from heterogeneous measurements over a whole patient cohort and demonstrate using combined imaging and clinical data from familial-Alzheimer's and Huntington's disease cohorts. Results provide new detail in the progression pattern of these diseases, while confirming known features, and give unique insight into the variability of progression over the cohort. The key advantage of the new model and algorithms over previous progression models is that they do not require a priori division of the patients into clinical stages. The model and its formulation extend naturally to a wide range of other diseases and developmental processes and accommodate cross-sectional and longitudinal input data.

Abstract

Patients with stroke offer a unique window into understanding human brain function. Mapping stroke lesions poses several challenges due to the complexity of the lesion anatomy and the mechanisms causing local and remote disruption on brain networks. In this prospective longitudinal study, we compare standard and advanced approaches to white matter lesion mapping applied to acute stroke patients with aphasia. Eighteen patients with acute left hemisphere stroke were recruited and scanned within two weeks from symptom onset. Aphasia assessment was performed at baseline and six-month follow-up. Structural and diffusion MRI contrasts indicated an area of maximum overlap in the anterior external/extreme capsule with diffusion images showing a larger overlap extending into posterior perisylvian regions. Anatomical predictors of recovery included damage to ipsilesional tracts (as shown by both structural and diffusion images) and contralesional tracts (as shown by diffusion images only). These findings indicate converging results from structural and diffusion lesion mapping methods but also clear differences between the two approaches in their ability to identify predictors of recovery outside the lesioned regions.

Abstract

The information we obtain from how speakers sound—for example their accent—affects how we interpret the messages they convey. A clear example is foreign accented speech, where reduced intelligibility and speaker's social categorization (out-group member) affect memory and the credibility of the message (e.g., less trustworthiness). In the present study, we go one step further and ask whether evaluations of messages are also affected by regional accents—accents from a different region than the listener. In the current study, we report results from three experiments on immediate memory recognition and immediate credibility assessments as well as the illusory truth effect. These revealed no differences between messages conveyed in local—from the same region as the participant—and regional accents—from native speakers of a different country than the participants. Our results suggest that when the accent of a speaker has high intelligibility, social categorization by accent does not seem to negatively affect how we treat the speakers' messages.

Abstract

The information we obtain from how speakers sound—for example their accent—affects how we interpret the
messages they convey. A clear example is foreign accented speech, where reduced intelligibility and speaker's
social categorization (out-group member) affect memory and the credibility of the message (e.g., less trust-
worthiness). In the present study, we go one step further and ask whether evaluations of messages are also
affected by regional accents—accents from a different region than the listener. In the current study, we report
results from three experiments on immediate memory recognition and immediate credibility assessments as well
as the illusory truth effect. These revealed no differences between messages conveyed in local—from the same
region as the participant—and regional accents—from native speakers of a different country than the partici-
pants. Our results suggest that when the accent of a speaker has high intelligibility, social categorization by
accent does not seem to negatively affect how we treat the speakers' messages.

Abstract

The aim of the present fMRI study was to investigate whether typical and dyslexic adult readers differed in the neural correlates of audiovisual speech processing. We tested for Blood Oxygen-Level Dependent (BOLD) activity differences between these two groups in a 1-back task, as they processed written (word, illegal consonant strings) and spoken (auditory, visual and audiovisual) stimuli. When processing written stimuli, dyslexic readers showed reduced activity in the supramarginal gyrus, a region suggested to play an important role in phonological processing, but only when they processed strings of consonants, not when they read words. During the speech perception tasks, dyslexic readers were only slower than typical readers in their behavioral responses in the visual speech condition. Additionally, dyslexic readers presented reduced neural activation in the auditory, the visual, and the audiovisual speech conditions. The groups also differed in terms of superadditivity, with dyslexic readers showing decreased neural activation in the regions of interest. An additional analysis focusing on vision-related processing during the audiovisual condition showed diminished activation for the dyslexic readers in a fusiform gyrus cluster. Our results thus suggest that there are differences in audiovisual speech processing between dyslexic and normal readers. These differences might be explained by difficulties in processing the unisensory components of audiovisual speech, more specifically, dyslexic readers may benefit less from visual information during audiovisual speech processing than typical readers. Given that visual speech processing supports the development of phonological skills fundamental in reading, differences in processing of visual speech could contribute to differences in reading ability between typical and dyslexic readers.