Publications

Abstract

BACKGROUND: There is a growing interest in the study of the genetic origins of comorbidity, a direct consequence of the recent findings of genetic loci that are seemingly linked to more than one disorder. There are several potential causes for these shared regions of linkage, but one possibility is that these loci may harbor genes with manifold effects. The established genetic correlation between reading disability (RD) and attention-deficit/hyperactivity disorder (ADHD) suggests that their comorbidity is due at least in part to genes that have an impact on several phenotypes, a phenomenon known as pleiotropy. METHODS: We employ a bivariate linkage test for selected samples that could help identify these pleiotropic loci. This linkage method was employed to carry out the first bivariate genome-wide analysis for RD and ADHD, in a selected sample of 182 sibling pairs. RESULTS: We found evidence for a novel locus at chromosome 14q32 (multipoint LOD=2.5; singlepoint LOD=3.9) with a pleiotropic effect on RD and ADHD. Another locus at 13q32, which had been implicated in previous univariate scans of RD and ADHD, seems to have a pleiotropic effect on both disorders. 20q11 is also suggested as a pleiotropic locus. Other loci previously implicated in RD or ADHD did not exhibit bivariate linkage. CONCLUSIONS: Some loci are suggested as having pleiotropic effects on RD and ADHD, while others might have unique effects. These results highlight the utility of this bivariate linkage method to study pleiotropy.

Abstract

Conversation requires a substantial amount of coordination between dialogue participants, from managing turn taking to negotiating mutual understanding. Part of this coordination effort surfaces as the reuse of linguistic behaviour across speakers, a process often referred to as alignment. While the presence of linguistic alignment is well documented in the literature, several questions remain open, including the extent to which patterns of reuse across speakers have an impact on the emergence of labelling conventions for novel referents. In this study, we put forward a methodology for automatically detecting shared lemmatised constructions---expressions with a common lexical core used by both speakers within a dialogue---and apply it to a referential communication corpus where participants aim to identify novel objects for which no established labels exist. Our analyses uncover the usage patterns of shared constructions in interaction and reveal that features such as their frequency and the amount of different constructions used for a referent are associated with the degree of object labelling convergence the participants exhibit after social interaction. More generally, the present study shows that automatically detected shared constructions offer a useful level of analysis to investigate the dynamics of reference negotiation in dialogue.

Abstract

Gestures are integral components of face-to-face communication. They unfold over time, often following predictable movement phases of preparation, stroke, and re-
traction. Yet, the prevalent approach to automatic gesture detection treats the problem as binary classification, classifying a segment as either containing a gesture or not, thus failing to capture its inherently sequential and contextual nature. To address this, we introduce a novel framework that reframes the task as a multi-phase sequence labeling problem rather than binary classification. Our model processes sequences of skeletal movements over time windows, uses Transformer encoders to learn contextual embeddings, and leverages Conditional Random Fields to perform sequence labeling. We evaluate our proposal on a large dataset of diverse co-speech gestures in task-oriented face-to-face dialogues. The results consistently demonstrate that our method significantly outperforms strong baseline models in detecting gesture strokes. Furthermore, applying Transformer encoders to learn contextual embeddings from movement sequences substantially improves gesture unit detection. These results highlight our framework’s capacity to capture the fine-grained dynamics of co-speech gesture phases, paving the way for more nuanced and accurate gesture detection and analysis.

Abstract

The neural infrastructure for sentence production and comprehension has been found to be mostly shared. The same regions are engaged during speaking and listening, with some differences in how strongly they activate depending on modality. In this study, we investigated how modality affects the connectivity between regions previously found to be involved in syntactic processing across modalities. We determined how constituent size and modality affected the connectivity of the pars triangularis of the left inferior frontal gyrus (LIFG) and of the left posterior temporal lobe (LPTL) with the pars opercularis of the LIFG, the anterior temporal lobe (LATL) and the rest of the brain. We found that constituent size reliably increased the connectivity across these frontal and temporal ROIs. Connectivity between the two LIFG regions and the LPTL was enhanced as a function of constituent size in both modalities, and it was upregulated in production possibly because of linearization and motor planning in the frontal cortex. The connectivity of both ROIs with the LATL was lower and only enhanced for larger constituent sizes, suggesting a contributing role of the LATL in sentence processing in both modalities. These results thus show that the connectivity among fronto-temporal regions is upregulated for syntactic structure building in both sentence production and comprehension, providing further evidence for accounts of shared neural resources for sentence-level processing across modalities.

Abstract

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

Abstract

Children need to learn the demands of their native language in the early vocabulary development phase. In this dynamic process, parental multimodal input may shape neurodevelopmental trajectories while also being tailored by child-related factors. Moving beyond typically characterized group profiles, in this article, we synthesize growing evidence on the effects of parental multimodal input (amount, quality, or absence), domain-specific input (space and math), and language-specific input (causal verbs and sound symbols) on preterm, full-term, and deaf children's early vocabulary development, focusing primarily on research with children learning Turkish and Turkish Sign Language. We advocate for a theoretical perspective, integrating neonatal characteristics and parental input, and acknowledging the unique constraints of languages.

Abstract

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

Abstract

Formants, or resonance frequencies of the upper vocal tract, are an essential part of acoustic communication. Articulatory gestures—such as jaw, tongue, lip, and soft palate movements—shape formant structure in human vocalizations, but little is known about how nonhuman mammals use those gestures to modify formant frequencies. Here, we report a case study with an adult male harbor seal trained to produce an arbitrary vocalization composed of multiple repetitions of the sound wa. We analyzed jaw movements frame-by-frame and matched them to the tracked formant modulation in the corresponding vocalizations. We found that the jaw opening angle was strongly correlated with the first (F1) and, to a lesser degree, with the second formant (F2). F2 variation was better explained by the jaw angle opening when the seal was lying on his back rather than on the belly, which might derive from soft tissue displacement due to gravity. These results show that harbor seals share some common articulatory traits with humans, where the F1 depends more on the jaw position than F2. We propose further in vivo investigations of seals to further test the role of the tongue on formant modulation in mammalian sound production.

Abstract

Schizophrenia is a debilitating psychiatric disorder associated with a reduced fertility and decreased life expectancy, yet common predisposing variation substantially contributes to the onset of the disorder, which poses an evolutionary paradox. Previous research has suggested balanced selection, a mechanism by which schizophrenia risk alleles could also provide advantages under certain environments, as a reliable explanation. However, recent studies have shown strong evidence against a positive selection of predisposing loci. Furthermore, evolutionary pressures on schizophrenia risk alleles could have changed throughout human history as new environments emerged. Here in this study, we used 1000 Genomes Project data to explore the relationship between schizophrenia predisposing loci and recent natural selection (RNS) signatures after the human diaspora out of Africa around 100,000 years ago on a genome-wide scale. We found evidence for significant enrichment of RNS markers in derived alleles arisen during human evolution conferring protection to schizophrenia. Moreover, both partitioned heritability and gene set enrichment analyses of mapped genes from schizophrenia predisposing loci subject to RNS revealed a lower involvement in brain and neuronal related functions compared to those not subject to RNS. Taken together, our results suggest non-antagonistic pleiotropy as a likely mechanism behind RNS that could explain the persistence of schizophrenia common predisposing variation in human populations due to its association to other non-psychiatric phenotypes.

Abstract

Background

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

Methods

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

Results

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

Conclusions

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

Abstract

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

Abstract

Despite the early emergence of pointing, children are generally not documented to produce iconic gestures until later in development. Although research has described this developmental trajectory and the types of iconic gestures that emerge first, there has been limited focus on iconic gestures within interactional contexts. This study identified the first 10 iconic gestures produced by five monolingual English-speaking children in a naturalistic longitudinal video corpus and analysed the interactional contexts. We found children produced their first iconic gesture between 12 and 20 months and that gestural types varied. Although 34% of gestures could have been imitated or derived from adult or child actions in the preceding context, the majority were produced independently of any observed model. In these cases, adults often led the interaction in a direction where iconic gesture was an appropriate response. Overall, we find infants can represent a referent symbolically and possess a greater capacity for innovation than previously assumed. In order to develop our understanding of how children learn to produce iconic gestures, it is important to consider the immediate interactional context. Conducting naturalistic corpus analyses could be a more ecologically valid approach to understanding how children learn to produce iconic gestures in real life contexts.

Abstract

The search for common characteristics between the musical abilities of humans and other animal species is still taking its first steps. One of the most promising aspects from a comparative point of view is the analysis of rhythmic components, which are crucial features of human communicative performance but also well-identifiable patterns in the vocal displays of other species. Therefore, the study of rhythm is becoming essential to understand the mechanisms of singing behavior and the evolution of human communication. Recent findings provided evidence that particular rhythmic structures occur in human music and some singing animal species, such as birds and rock hyraxes, but only 2 species of nonhuman primates have been investigated so far (Indri indri and Hylobates lar). Therefore, our study aims to consistently broaden the list of species studied regarding the presence of rhythmic categories. We investigated the temporal organization in the singing of 3 species of crested gibbons (Nomascus gabriellae, Nomascus leucogenys, and Nomascus siki) and found that the most prominent rhythmic category was isochrony. Moreover, we found slight variation in songs’ tempo among species, with N. gabriellae and N. siki singing with a temporal pattern involving a gradually increasing tempo (a musical accelerando), and N. leucogenys with a more regular pattern. Here, we show how the prominence of a peak at the isochrony establishes itself as a shared characteristic in the small apes considered so far.

Abstract

Animal songs differ from calls in function and structure, and have comparative and translational value, showing similarities to human music. Rhythm in music is often distributed in quantized classes of intervals known as rhythmic categories. These classes have been found in the songs of a few nonhuman species but never in their calls. Are rhythmic categories song-specific, as in human music, or can they transcend the song–call boundary? We analyze the vocal displays of one of the few mammals producing both songs and call sequences: Indri indri. We test whether rhythmic categories (a) are conserved across songs produced in different contexts, (b) exist in call sequences, and (c) differ between songs and call sequences. We show that rhythmic categories occur across vocal displays. Vocalization type and function modulate deployment of categories. We find isochrony (1:1 ratio, like the rhythm of a ticking clock) in all song types, but only advertisement songs show three rhythmic categories (1:1, 1:2, 2:1 ratios). Like songs, some call types are also isochronous. Isochrony is the backbone of most indri vocalizations, unlike human speech, where it is rare. In indri, isochrony underlies both songs and hierarchy-less call sequences and might be ancestral to both.

Abstract

In the cognitive, computational, and neuro-sciences, practitioners often reason about what computational models represent or learn, as well as what algorithm is instantiated. The putative goal of such reasoning is to generalize claims about the model in question, to claims about the mind and brain, and the neurocognitive capacities of those systems. Such inference is often based on a model’s performance on a task, and whether that performance approximates human behavior or brain activity. Here we demonstrate how such argumentation problematizes the relationship between models and their targets; we place emphasis on artificial neural networks (ANNs), though any theory-brain relationship that falls into the same schema of reasoning is at risk. In this paper, we model inferences from ANNs to brains and back within a formal framework — metatheoretical calculus — in order to initiate a dialogue on both how models are broadly understood and used, and on how to best formally characterize them and their functions. To these ends, we express claims from the published record about models’ successes and failures in first-order logic. Our proposed formalization describes the decision-making processes enacted by scientists to adjudicate over theories. We demonstrate that formalizing the argumentation in the literature can uncover potential deep issues about how theory is related to phenomena. We discuss what this means broadly for research in cognitive science, neuroscience, and psychology; what it means for models when they lose the ability to mediate between theory and data in a meaningful way; and what this means for the metatheoretical calculus our fields deploy when performing high-level scientific inference.

Abstract

INTRODUCTION
Comparative epigenomics is an emerging field that combines epigenetic signatures with phylogenetic relationships to elucidate species characteristics such as maximum life span. For this study, we generated cytosine DNA methylation (DNAm) profiles (n = 15,456) from 348 mammalian species using a methylation array platform that targets highly conserved cytosines.
RATIONALE
Nature has evolved mammalian species of greatly differing life spans. To resolve the relationship of DNAm with maximum life span and phylogeny, we performed a large-scale cross-species unsupervised analysis. Comparative studies in many species enables the identification of epigenetic correlates of maximum life span and other traits.
RESULTS
We first tested whether DNAm levels in highly conserved cytosines captured phylogenetic relationships among species. We constructed phyloepigenetic trees that paralleled the traditional phylogeny. To avoid potential confounding by different tissue types, we generated tissue-specific phyloepigenetic trees. The high phyloepigenetic-phylogenetic congruence is due to differences in methylation levels and is not confounded by sequence conservation.
We then interrogated the extent to which DNA methylation associates with specific biological traits. We used an unsupervised weighted correlation network analysis (WGCNA) to identify clusters of highly correlated CpGs (comethylation modules). WGCNA identified 55 distinct comethylation modules, of which 30 were significantly associated with traits including maximum life span, adult weight, age, sex, human mortality risk, or perturbations that modulate murine life span.
Both the epigenome-wide association analysis (EWAS) and eigengene-based analysis identified methylation signatures of maximum life span, and most of these were independent of aging, presumably set at birth, and could be stable predictors of life span at any point in life. Several CpGs that are more highly methylated in long-lived species are located near HOXL subclass homeoboxes and other genes that play a role in morphogenesis and development. Some of these life span–related CpGs are located next to genes that are also implicated in our analysis of upstream regulators (e.g., ASCL1 and SMAD6). CpGs with methylation levels that are inversely related to life span are enriched in transcriptional start site (TSS1) and promoter flanking (PromF4, PromF5) associated chromatin states. Genes located in chromatin state TSS1 are constitutively active and enriched for nucleic acid metabolic processes. This suggests that long-living species evolved mechanisms that maintain low methylation levels in these chromatin states that would favor higher expression levels of genes essential for an organism’s survival.
The upstream regulator analysis of the EWAS of life span identified the pluripotency transcription factors OCT4, SOX2, and NANOG. Other factors, such as POLII, CTCF, RAD21, YY1, and TAF1, showed the strongest enrichment for negatively life span–related CpGs.
CONCLUSION
The phyloepigenetic trees indicate that divergence of DNA methylation profiles closely parallels that of genetics through evolution. Our results demonstrate that DNA methylation is subjected to evolutionary pressures and selection. The publicly available data from our Mammalian Methylation Consortium are a rich source of information for different fields such as evolutionary biology, developmental biology, and aging.

Abstract

In speaking and comprehending language, word information is retrieved from memory and combined into larger units (unification). Unification operations take place in parallel at the semantic, syntactic and phonological levels of processing. This article proposes a new framework that connects psycholinguistic models to a neurobiological account of language. According to this proposal the left inferior frontal gyrus (LIFG) plays an important role in unification. Research in other domains of cognition indicates that left prefrontal cortex has the necessary neurobiological characteristics for its involvement in the unification for language. I offer here a psycholinguistic perspective on the nature of language unification and the role of LIFG.

Abstract

According to the language marker hypothesis language has provided homo sapiens with a rich symbolic system that plays a central role in interpreting signals delivered by our sensory apparatus, in shaping action goals, and in creating a powerful tool for reasoning and inferencing. This view provides an important correction on embodied accounts of language that reduce language to action, perception, emotion and mental simulation. The presence of a language system has, however, also important consequences for perception, action, emotion, and memory. Language stamps signals from perception, action, and emotional systems with rich cognitive markers that transform the role of these signals in the overall cognitive architecture of the human mind. This view does not deny that language is implemented by means of universal principles of neural organization. However, language creates the possibility to generate rich internal models of the world that are shaped and made accessible by the characteristics of a language system. This makes us less dependent on direct action-perception couplings and might even sometimes go at the expense of the veridicality of perception. In cognitive (neuro)science the pendulum has swung from language as the key to understand the organization of the human mind to the perspective that it is a byproduct of perception and action. It is time that it partly swings back again.

Abstract

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

Abstract

Face to face interaction is fundamental to human sociality but is very complex to study in a scientific fashion. This theme issue brings together cutting-edge approaches to the study of face-to-face interaction and showcases how we can make progress in this area. Researchers are now studying interaction in adult conversation, parent-child relationships, neurodiverse groups, interactions with virtual agents and various animal species. The theme issue reveals how new paradigms are leading to more ecologically grounded and comprehensive insights into what social interaction is. Scientific advances in this area can lead to improvements in education and therapy, better understanding of neurodiversity and more engaging artificial agents

Abstract

Face-to-face interaction is core to human sociality and its evolution, and provides the environment in which most of human communication occurs. Research into the full complexities that define face-to-face interaction requires a multi-disciplinary, multi-level approach, illuminating from different perspectives how we and other species interact. This special issue showcases a wide range of approaches, bringing together detailed studies of naturalistic social-interactional behaviour with larger scale analyses for generalization, and investigations of socially contextualized cognitive and neural processes that underpin the behaviour we observe. We suggest that this integrative approach will allow us to propel forwards the science of face-to-face interaction by leading us to new paradigms and novel, more ecologically grounded and comprehensive insights into how we interact with one another and with artificial agents, how differences in psychological profiles might affect interaction, and how the capacity to socially interact develops and has evolved in the human and other species. This theme issue makes a first step into this direction, with the aim to break down disciplinary boundaries and emphasizing the value of illuminating the many facets of face-to-face interaction.

Abstract

Children with developmental language disorder (DLD) regularly use the bare form of verbs (e.g., dance) instead of inflected forms (e.g., danced). We propose an account of this behavior in which processing difficulties of children with DLD disproportionally affect processing novel inflected verbs in their input. Limited experience with inflection in novel contexts leads the inflection to face stronger competition from alternatives. Competition is resolved through a compensatory behavior that involves producing a more accessible alternative: in English, the bare form. We formalize this hypothesis within a probabilistic model that trades off context-dependent versus independent processing. Results show an over-reliance on preceding stem contexts when retrieving the inflection in a model that has difficulty with processing novel inflected forms. We further show that following the introduction of a bias to store and retrieve forms with preceding contexts, generalization in the typically developing (TD) models remains more or less stable, while the same bias in the DLD models exaggerates difficulties with generalization. Together, the results suggest that inconsistent use of inflectional morphemes by children with DLD could stem from inferences they make on the basis of data containing fewer novel inflected forms. Our account extends these findings to suggest that problems with detecting a form in novel contexts combined with a bias to rely on familiar contexts when retrieving a form could explain sequential planning difficulties in children with DLD.

Abstract

Research on language evolution is an established subject area yet permeated by terminological controversies about which topics should be considered pertinent to the field and which not. By consequence, scholars focusing on language evolution struggle in providing precise demarcations of the discipline, where even the very central notions of evolution and language are elusive. We aimed at providing a data-driven characterisation of language evolution as a field of research by relying on quantitative analysis of data drawn from 697 reviews on 255 submissions from the Joint Conference on Language Evolution 2022 (Kanazawa, Japan). Our results delineate a field characterized by a core of main research topics such as iconicity, sign language, multimodality. Despite being explored within the framework of language evolution research, only very recently these topics became popular in linguistics. As a result, language evolution has the potential to emerge as a forefront of linguistic research, bringing innovation to the study of language. We also see the emergence of more recent topics like rhythm, music, and vocal learning. Furthermore, the community identifies cognitive science, primatology, archaeology, palaeoanthropology, and genetics as key areas, encouraging empirical rather than theoretical work. With new themes, models, and methodologies emerging, our results depict an intrinsically multidisciplinary and evolving research field, likely adapting as language itself.

Abstract

Morphology is the study of the internal structure of words. A vigorous ongoing debate surrounds the question of how such internal structure is best accounted for: by means of lexical entries and deterministic symbolic rules, or by means of probabilistic subsymbolic networks implicitly encoding structural similarities in connection weights. In this review, we separate the question of subsymbolic versus symbolic implementation from the question of deterministic versus probabilistic structure. We outline a growing body of evidence, mostly external to the above debate, indicating that morphological structure is indeed intrinsically graded. By allowing probability into the grammar, progress can be made towards solving some long-standing puzzles in morphological theory.

Abstract

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

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

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

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

Abstract

The search for molecular underpinnings of human vocal communication has focused on genes encoding forkhead-box transcription factors, as rare disruptions of FOXP1, FOXP2, and FOXP4 have been linked to disorders involving speech and language deficits. In male songbirds, an animal model for vocal learning, experimentally altered expression levels of these transcription factors impair song production learning. The relative contributions of auditory processing, motor function or auditory-motor integration to the deficits observed after different FoxP manipulations in songbirds are unknown. To examine the potential effects on auditory learning and development, we focused on female zebra finches (Taeniopygia guttata) that do not sing but develop song memories, which can be assayed in operant preference tests. We tested whether the relatively high levels of FoxP1 expression in forebrain areas implicated in female song preference learning are crucial for the development and/or maintenance of this behavior. Juvenile and adult female zebra finches received FoxP1 knockdowns targeted to HVC (proper name) or to the caudomedial mesopallium (CMM). Irrespective of target site and whether the knockdown took place before (juveniles) or after (adults) the sensitive phase for song memorization, all groups preferred their tutor’s song. However, adult females with FoxP1 knockdowns targeted at HVC showed weaker motivation to hear song and weaker song preferences than sham-treated controls, while no such differences were observed after knockdowns in CMM or in juveniles. In summary, FoxP1 knockdowns in the cortical song nucleus HVC were not associated with impaired tutor song memory but reduced motivation to actively request tutor songs.

Abstract

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

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

Abstract

This special publication aims to build a renewed enthusiasm for collecting acquisition data across many languages, including those facing endangerment and loss. It presents a guide for documenting and describing child language and child-directed language in diverse languages and cultures, as well as a collection of acquisition sketches based on this guide. The guide is intended for anyone interested in working across child language and language documentation, including, for example, field linguists and language documenters, community language workers, child language researchers or graduate students.

Abstract

Neural oscillations are thought to support speech and language processing. They may not only inherit acoustic rhythms, but might also impose endogenous rhythms onto processing. In support of this, we here report that human (both male and female) eye movements during naturalistic reading exhibit rhythmic patterns that show frequency-selective coherence with the EEG, in the absence of any stimulation rhythm. Periodicity was observed in two distinct frequency bands: First, word-locked saccades at 4-5 Hz display coherence with whole-head theta-band activity. Second, fixation durations fluctuate rhythmically at ∼1 Hz, in coherence with occipital delta-band activity. This latter effect was additionally phase-locked to sentence endings, suggesting a relationship with the formation of multi-word chunks. Together, eye movements during reading contain rhythmic patterns that occur in synchrony with oscillatory brain activity. This suggests that linguistic processing imposes preferred processing time scales onto reading, largely independent of actual physical rhythms in the stimulus.

Abstract

Rhythmicity in the millisecond to second range is a fundamental building block of communication and coordinated movement. But how widespread are rhythmic capacities across species, and how did they evolve under different environmental pressures? Comparative research is necessary to answer these questions but has been hindered by limited crosstalk and comparability among results from different study species.
Most acoustics studies do not explicitly focus on characterising or quantifying rhythm, but many are just a few scrapes away from contributing to and advancing the field of comparative rhythm research. Here, we present an eight-level rhythm reporting framework which details actionable steps researchers can take to report rhythm-relevant metrics. Levels fall into two categories: metric reporting and data sharing. Metric reporting levels include defining rhythm-relevant metrics, providing point estimates of temporal interval variability, reporting interval distributions, and conducting rhythm analyses. Data sharing levels are: sharing audio recordings, sharing interval durations, sharing sound element start and end times, and sharing audio recordings with sound element start/end times.
Using sounds recorded from a sperm whale as a case study, we demonstrate how each reporting framework level can be implemented on real data. We also highlight existing best practice examples from recent research spanning multiple species. We clearly detail how engagement with our framework can be tailored case-by-case based on how much time and effort researchers are willing to contribute. Finally, we illustrate how reporting at any of the suggested levels will help advance comparative rhythm research.
This framework will actively facilitate a comparative approach to acoustic rhythms while also promoting cooperation and data sustainability. By quantifying and reporting rhythm metrics more consistently and broadly, new avenues of inquiry and several long-standing, big picture research questions become more tractable. These lines of research can inform not only about the behavioural ecology of animals but also about the evolution of rhythm-relevant phenomena and the behavioural neuroscience of rhythm production and perception. Rhythm is clearly an emergent feature of life; adopting our framework, researchers from different fields and with different study species can help understand why.

Abstract

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

Abstract

In face-to-face discourse, listeners exploit cues in the input to generate predictions about upcoming words. Moreover, in addition to speech, speakers produce a multitude of visual signals, such as iconic gestures, which listeners readily integrate with incoming words. Previous studies have shown that processing of target words is facilitated when these are embedded in predictable compared to non-predictable discourses and when accompanied by iconic compared to meaningless gestures. In the present study, we investigated the interaction of both factors. We recorded electroencephalogram from 60 Dutch adults while they were watching videos of an actress producing short discourses. The stimuli consisted of an introductory and a target sentence; the latter contained a target noun. Depending on the preceding discourse, the target noun was either predictable or not. Each target noun was paired with an iconic gesture and a gesture that did not convey meaning. In both conditions, gesture presentation in the video was timed such that the gesture stroke slightly preceded the onset of the spoken target by 130 ms. Our ERP analyses revealed independent facilitatory effects for predictable discourses and iconic gestures. However, the interactive effect of both factors demonstrated that target processing (i.e., gesture-speech integration) was facilitated most when targets were part of predictable discourses and accompanied by an iconic gesture. Our results thus suggest a strong intertwinement of linguistic predictability and non-verbal gesture processing where listeners exploit predictive discourse cues to pre-activate verbal and non-verbal representations of upcoming target words.

Abstract

Listeners frequently recognize spoken words in the presence of background noise. Previous research has shown that noise reduces phoneme intelligibility and hampers spoken-word recognition—especially for non-native listeners. In the present study, we investigated how noise influences lexical competition in both the non-native and the native language, reflecting the degree to which both languages are co-activated. We recorded the eye movements of native Dutch participants as they listened to English sentences containing a target word while looking at displays containing four objects. On target-present trials, the visual referent depicting the target word was present, along with three unrelated distractors. On target-absent trials, the target object (e.g., wizard) was absent. Instead, the display contained an English competitor, overlapping with the English target in phonological onset (e.g., window), a Dutch competitor, overlapping with the English target in phonological onset (e.g., wimpel, pennant), and two unrelated distractors. Half of the sentences was masked by speech-shaped noise; the other half was presented in quiet. Compared to speech in quiet, noise delayed fixations to the target objects on target-present trials. For target-absent trials, we observed that the likelihood for fixation biases towards the English and Dutch onset competitors (over the unrelated distractors) was larger in noise than in quiet. Our data thus show that the presence of background noise increases lexical competition in the task-relevant non-native (English) and in the task-irrelevant native (Dutch) language. The latter reflects stronger interference of one’s native language during non-native spoken-word recognition under adverse conditions.

Abstract

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

Abstract

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

Abstract

Individuals exhibit massive variability in general cognitive skills that affect language processing. This variability is partly developmental. Here, we recruited a large sample of participants (N = 487), ranging from 9 to 90 years of age, and examined the involvement of nonverbal processing speed (assessed using visual and auditory reaction time tasks) and working memory (assessed using forward and backward Digit Span tasks) in a visual world task. Participants saw two objects on the screen and heard a sentence that referred to one of them. In half of the sentences, the target object could be predicted based on verb-selectional restrictions. We observed evidence for anticipatory processing on predictable compared to non-predictable trials. Visual and auditory processing speed had main effects on sentence comprehension and facilitated predictive processing, as evidenced by an interaction. We observed only weak evidence for the involvement of working memory in predictive sentence comprehension. Age had a nonlinear main effect (younger adults responded faster than children and older adults), but it did not differentially modulate predictive and non-predictive processing, nor did it modulate the involvement of processing speed and working memory. Our results contribute to delineating the cognitive skills that are involved in language-vision interactions.

Abstract

In an online experiment among native speakers of Dutch we measured addressees' responses to emails written in the informal pronoun T or the formal pronoun V in HR communication. 172 participants (61 male, mean age 37 years) read either the V-versions or the T-versions of two invitation emails and two rejection emails by four different fictitious recruiters. After each email, participants had to score their appreciation of the company and the recruiter on five different scales each, such as The recruiter who wrote this email seems … [scale from friendly to unfriendly]. We hypothesized that (i) the V-pronoun would be more appreciated in letters of rejection, and the T-pronoun in letters of invitation, and (ii) older people would appreciate the V-pronoun more than the T-pronoun, and the other way around for younger people. Although neither of these hypotheses was supported, we did find a small effect of pronoun: Emails written in V were more highly appreciated than emails in T, irrespective of type of email (invitation or rejection), and irrespective of the participant's age, gender, and level of education. At the same time, we observed differences in the strength of this effect across different scales.

Abstract

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

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

Abstract

Purpose:
To our knowledge, there are no data examining the agreement between self-reported and clinician-rated stuttering severity. In the era of big data, self-reported ratings have great potential utility for large-scale data collection, where cost and time preclude in-depth assessment by a clinician. Equally, there is increasing emphasis on the need to recognize an individual's experience of their own condition. Here, we examined the agreement between self-reported stuttering severity compared to clinician ratings during a speech assessment. As a secondary objective, we determined whether self-reported stuttering severity correlated with an individual's subjective impact of stuttering.

Method:
Speech-language pathologists conducted face-to-face speech assessments with 195 participants (137 males) aged 5–84 years, recruited from a cohort of people with self-reported stuttering. Stuttering severity was rated on a 10-point scale by the participant and by two speech-language pathologists. Participants also completed the Overall Assessment of the Subjective Experience of Stuttering (OASES). Clinician and participant ratings were compared. The association between stuttering severity and the OASES scores was examined.

Results:
There was a strong positive correlation between speech-language pathologist and participant-reported ratings of stuttering severity. Participant-reported stuttering severity correlated weakly with the four OASES domains and with the OASES overall impact score.

Conclusions:
Participants were able to accurately rate their stuttering severity during a speech assessment using a simple one-item question. This finding indicates that self-report stuttering severity is a suitable method for large-scale data collection. Findings also support the collection of self-report subjective experience data using questionnaires, such as the OASES, which add vital information about the participants' experience of stuttering that is not captured by overt speech severity ratings alone.

Abstract

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

Abstract

When participants are presented simultaneously with spoken language and a visual display depicting objects to which that language refers, participants spontaneously fixate the visual referents of the words being heard [Cooper, R. M. (1974). The control of eye fixation by the meaning of spoken language: A new methodology for the real-time investigation of speech perception, memory, and language processing. Cognitive Psychology, 6(1), 84–107; Tanenhaus, M. K., Spivey-Knowlton, M. J., Eberhard, K. M., & Sedivy, J. C. (1995). Integration of visual and linguistic information in spoken language comprehension. Science, 268(5217), 1632–1634]. We demonstrate here that such spontaneous fixation can be driven by partial semantic overlap between a word and a visual object. Participants heard the word ‘piano’ when (a) a piano was depicted amongst unrelated distractors; (b) a trumpet was depicted amongst those same distractors; and (c), both the piano and trumpet were depicted. The probability of fixating the piano and the trumpet in the first two conditions rose as the word ‘piano’ unfolded. In the final condition, only fixations to the piano rose, although the trumpet was fixated more than the distractors. We conclude that eye movements are driven by the degree of match, along various dimensions that go beyond simple visual form, between a word and the mental representations of objects in the concurrent visual field.

Abstract

Prediction appears to be an important characteristic of the human mind. It has also been suggested that prediction is a core difference of autistic children. Past research exploring language-mediated anticipatory eye movements in autistic children, however, has been somewhat contradictory, with some studies finding normal anticipatory processing in autistic children with low levels of autistic traits but others observing weaker prediction effects in autistic children with less receptive language skills. Here we investigated language-mediated anticipatory eye movements in young children who differed in the severity of their level of autistic traits and were in professional institutional care in Hangzhou, China. We chose the same spoken sentences (translated into Mandarin Chinese) and visual stimuli as a previous study which observed robust prediction effects in young children (Mani & Huettig, 2012) and included a control group of typically-developing children. Typically developing but not autistic children showed robust prediction effects. Most interestingly, autistic children with lower communication, motor, and (adaptive) behavior scores exhibited both less predictive and non-predictive visual attention behavior. Our results raise the possibility that differences in language-mediated anticipatory eye movements in autistic children with higher levels of autistic traits may be differences in visual attention in disguise, a hypothesis that needs further investigation.

Abstract

We argue that the educational and psychological sciences must embrace the diversity of reading rather than chase the phantom of normal reading behavior. We critically discuss the research practice of asking participants in experiments to read “normally”. We then draw attention to the large cross-cultural and linguistic diversity around the world and consider the enormous diversity of reading situations and goals. Finally, we observe that people bring a huge diversity of brains and experiences to the reading task. This leads to certain implications. First, there are important lessons for how to conduct psycholinguistic experiments. Second, we need to move beyond Anglo-centric reading research and produce models of reading that reflect the large cross-cultural diversity of languages and types of writing systems. Third, we must acknowledge that there are multiple ways of reading and reasons for reading, and none of them is normal or better or a “gold standard”. Finally, we must stop stigmatizing individuals who read differently and for different reasons, and there should be increased focus on teaching the ability to extract information relevant to the person’s goals. What is important is not how well people decode written language and how fast people read but what people comprehend given their own stated goals.

Abstract

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

Abstract

Literacy is in decline in many parts of the world, accompanied by drops in associated cognitive skills (including IQ) and an increasing susceptibility to fake news. It is possible that the recent explosive growth and widespread deployment of Large Language Models (LLMs) might exacerbate this trend, but there is also a chance that LLMs can help turn things around. We argue that cognitive science is ideally suited to help steer future literacy development in the right direction by challenging and informing current educational practices and policy. Cognitive scientists have the right interdisciplinary skills to study, analyze, evaluate, and change LLMs to facilitate their critical use, to encourage turn-taking that promotes rather than hinders literacy, to support literacy acquisition in diverse and equitable ways, and to scaffold potential future changes in what it means to be literate. We urge cognitive scientists to take up this mantle—the future impact of LLMs on human literacy skills is too important to be left to the large, predominately US-based tech companies.

Abstract

Semantic variation in the cutting and breaking domain has been shown to be constrained across languages in a previous typological study, but it was unclear whether Japanese was an outlier in this domain. Here we revisit cutting and breaking in the Japonic language area by collecting new naming data for 40 videoclips depicting cutting and breaking events in Standard Japanese, the highly divergent Tohoku dialects, as well as four related Ryukyuan languages (Amami, Okinawa, Miyako and Yaeyama). We find that the Japonic languages recapitulate the same semantic dimensions attested in the previous typological study, confirming that semantic variation in the domain of cutting and breaking is indeed cross-linguistically constrained. We then compare our new Japonic data to previously collected Germanic data and find that, in general, related languages resemble each other more than unrelated languages, and that the Japonic languages resemble each other more than the Germanic languages do. Nevertheless, English resembles all of the Japonic languages more than it resembles Swedish. Together, these findings show that the rate and extent of semantic change can differ between language families, indicating the existence of lineage-specific developments on top of universal cross-linguistic constraints.

Abstract

EEG and eye-tracking provide complementary information when investigating language comprehension. Evidence that speech processing may be facilitated by speech prediction comes from the observation that a listener's eye gaze moves towards a referent before it is mentioned if the remainder of the spoken sentence is predictable. However, changes to the trajectory of anticipatory fixations could result from a change in prediction or an attention shift. Conversely, N400 amplitudes and concurrent spectral power provide information about the ease of word processing the moment the word is perceived. In a proof-of-principle investigation, we combined EEG and eye-tracking to study linguistic prediction in naturalistic, virtual environments. We observed increased processing, reflected in theta band power, either during verb processing - when the verb was predictive of the noun - or during noun processing - when the verb was not predictive of the noun. Alpha power was higher in response to the predictive verb and unpredictable nouns. We replicated typical effects of noun congruence but not predictability on the N400 in response to the noun. Thus, the rich visual context that accompanied speech in virtual reality influenced language processing compared to previous reports, where the visual context may have facilitated processing of unpredictable nouns. Finally, anticipatory fixations were predictive of spectral power during noun processing and the length of time fixating the target could be predicted by spectral power at verb onset, conditional on the object having been fixated. Overall, we show that combining EEG and eye-tracking provides a promising new method to answer novel research questions about the prediction of upcoming linguistic input, for example, regarding the role of extralinguistic cues in prediction during language comprehension.

Abstract

n conversations, interlocutors concurrently perform two related processes: speech comprehension and speech planning. We investigated effects of speech planning on comprehension using EEG. Dutch speakers listened to sentences that ended with expected or unexpected target words. In addition, a picture was presented two seconds after target onset (Experiment 1) or 50 ms before target onset (Experiment 2). Participants’ task was to name the picture or to stay quiet depending on the picture category. In Experiment 1, we found a strong N400 effect in response to unexpected compared to expected target words. Importantly, this N400 effect was reduced in Experiment 2 compared to Experiment 1. Unexpectedly, the N400 effect was not smaller in the naming compared to categorization condition. This indicates that conceptual preparation or the decision whether to speak (taking place in both task conditions of Experiment 2) rather than processes specific to word planning interfere with comprehension.

Abstract

To communicate, an animal's strategic timing of rhythmic signals is crucial. Evolutionary, game-theoretical, and dynamical systems models can shed light on the interaction between individuals and the associated costs and benefits of signalling at a specific time. Mathematical models that study rhythmic interactions from a strategic or evolutionary perspective are rare in animal communication research. But new inspiration may come from a recent game theory model of how group synchrony emerges from local interactions of oscillatory neurons. In the study, the authors analyse when the benefit of joint synchronization outweighs the cost of individual neurons sending electrical signals to each other. They postulate there is a benefit for pairs of neurons to fire together and a cost for a neuron to communicate. The resulting model delivers a variant of a classical dynamical system, the Kuramoto model. Here, we present an accessible overview of the Kuramoto model and evolutionary game theory, and of the 'oscillatory neurons' model. We interpret the model's results and discuss the advantages and limitations of using this particular model in the context of animal rhythmic communication. Finally, we sketch potential future directions and discuss the need to further combine evolutionary dynamics, game theory and rhythmic processes in animal communication studies.

Abstract

Objective

Researchers in animal cognition, psychophysics, and experimental psychology need to randomise the presentation order of trials in experimental sessions. In many paradigms, for each trial, one of two responses can be correct, and the trials need to be ordered such that the participant’s responses are a fair assessment of their performance. Specifically, in some cases, especially for low numbers of trials, randomised trial orders need to be excluded if they contain simple patterns which a participant could accidentally match and so succeed at the task without learning.
Results

We present and distribute a simple Python software package and tool to produce pseudorandom sequences following the Gellermann series. This series has been proposed to pre-empt simple heuristics and avoid inflated performance rates via false positive responses. Our tool allows users to choose the sequence length and outputs a .csv file with newly and randomly generated sequences. This allows behavioural researchers to produce, in a few seconds, a pseudorandom sequence for their specific experiment. PyGellermann is available at https://github.com/YannickJadoul/PyGellermann.

Abstract

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

Abstract

Most bioacoustics software is used to analyse the already collected acoustics data in batch, i.e., after the data-collecting phase of a scientific study. However, experiments based on animal training require immediate and precise reactions from the experimenter, and thus do not easily dovetail with a typical bioacoustics workflow. Bridging this methodological gap, we have developed a custom application to live-monitor the vocal development of harbour seals in a behavioural experiment. In each trial, the application records and automatically detects an animal's call, and immediately measures duration and acoustic measures such as intensity, fundamental frequency, or formant frequencies. It then displays a spectrogram of the recording and the acoustic measurements, allowing the experimenter to instantly evaluate whether or not to reinforce the animal's vocalisation. From a technical perspective, the rapid and easy development of this custom software was made possible by combining multiple open-source software projects. Here, we integrated the acoustic analyses from Parselmouth, a Python library for Praat, together with PyAudio and Matplotlib's recording and plotting functionality, into a custom graphical user interface created with PyQt. This flexible recombination of different open-source Python libraries allows the whole program to be written in a mere couple of hundred lines of code

Abstract

At the group level, children exposed to certain health and demographic risk factors, and who have delayed language in early childhood are, more likely to have language problems later in childhood. However, it is unclear whether we can use these risk factors to predict whether an individual child is likely to develop problems with language (e.g., be diagnosed with a developmental language disorder). We tested this in a sample of 146 children who took part in the UK-CDI norming project. When the children were 15–18 months old, 1,210 British parents completed: (a) the UK-CDI (a detailed assessment of vocabulary and gesture use) and (b) the Family Questionnaire (questions about health and demographic risk factors). When the children were between 4 and 6  years, 146 of the same parents completed a short questionnaire that assessed (a) whether children had been diagnosed with a disability that was likely to affect language proficiency (e.g., developmental disability, language disorder, hearing impairment), but (b) also yielded a broader measure: whether the child’s language had raised any concern, either by a parent or professional. Discriminant function analyses were used to assess whether we could use different combinations of 10 risk factors, together with early vocabulary and gesture scores, to identify children (a) who had developed a language-related disability by the age of 4–6 years (20 children, 13.70% of the sample) or (b) for whom concern about language had been expressed (49 children; 33.56%). The overall accuracy of the models, and the specificity scores were high, indicating that the measures correctly identified those children without a language-related disability and whose language was not of concern. However, sensitivity scores were low, indicating that the models could not identify those children who were diagnosed with a language-related disability or whose language was of concern. Several exploratory analyses were carried out to analyse these results further. Overall, the results suggest that it is difficult to use parent reports of early risk factors and language in the first 2 years of life to predict which children are likely to be diagnosed with a language-related disability. Possible reasons for this are discussed.

Abstract

To understand the neurocognitive mechanisms that underlie heterogeneity in cognitive ageing, recent scientific efforts have led to a growing public availability of imaging cohort data. The Advanced BRain Imaging on ageing and Memory (ABRIM) project aims to add to these existing datasets by taking an adult lifespan approach to provide a cross-sectional, normative database with a particular focus on connectivity, myelinization and iron content of the brain in concurrence with cognitive functioning, mechanisms of reserve, and sleep-wake rhythms. ABRIM freely shares MRI and behavioural data from 295 participants between 18–80 years, stratified by age decade and sex (median age 52, IQR 36–66, 53.20% females). The ABRIM MRI collection consists of both the raw and pre-processed structural and functional MRI data to facilitate data usage among both expert and non-expert users. The ABRIM behavioural collection includes measures of cognitive functioning (i.e., global cognition, processing speed, executive functions, and memory), proxy measures of cognitive reserve (e.g., educational attainment, verbal intelligence, and occupational complexity), and various self-reported questionnaires (e.g., on depressive symptoms, pain, and the use of memory strategies in daily life and during a memory task). In a sub-sample (n = 120), we recorded sleep-wake rhythms using an actigraphy device (Actiwatch 2, Philips Respironics) for a period of 7 consecutive days. Here, we provide an in-depth description of our study protocol, pre-processing pipelines, and data availability. ABRIM provides a cross-sectional database on healthy participants throughout the adult lifespan, including numerous parameters relevant to improve our understanding of cognitive ageing. Therefore, ABRIM enables researchers to model the advanced imaging parameters and cognitive topologies as a function of age, identify the normal range of values of such parameters, and to further investigate the diverse mechanisms of reserve and resilience.

Abstract

Linguistic communication is an intrinsically social activity that enables us to share thoughts across minds. Many complex social uses of language can be captured by domain-general representations of other minds (i.e., mentalistic representations) that externally modulate linguistic meaning through Gricean reasoning. However, here we show that representations of others’ attention are embedded within language itself. Across ten languages, we show that demonstratives—basic grammatical words (e.g.,“this”/“that”) which are evolutionarily ancient, learned early in life, and documented in all known languages—are intrinsic attention tools. Beyond their spatial meanings, demonstratives encode both joint attention and the direction in which the listenermmust turn to establish it. Crucially, the frequency of the spatial and attentional uses of demonstratives varies across languages, suggesting that both spatial and mentalistic representations are part of their conventional meaning. Using computational modeling, we show that mentalistic representations of others’ attention are internally encoded in demonstratives, with their effect further boosted by Gricean reasoning. Yet, speakers are largely unaware of this, incorrectly reporting that they primarily capture spatial representations. Our findings show that representations of other people’s cognitive states (namely, their attention) are embedded in language and suggest that the most basic building blocks of the linguistic system crucially rely on social cognition.

Abstract

This study investigates the time-course of information processing in both visual as well as in the auditory speech as used for word identification in face-to-face communication. It extends the limited previous research on this topic and provides a valuable database for future research in audiovisual speech perception. An evaluation of models of speech perception by ear and eye in their ability to account for the audiovisual gating data shows a superior role of the fuzzy logical model of perception (FLMP) [1] over additive models of perception. A new dynamic version of the FLMP seems to be a promising model to account for the complex interplay of perceptual and cognitive information in audiovisual spoken word recognition.

Abstract

In face-to-face communication, information from the face as well as from the voice contributes to the identification of spoken words. This dissertation investigates the time-course of the evaluation and integration of visual and auditory speech in audiovisual word identification. A large-scale audiovisual gating study extends previous research on this topic by (1) using a set of words that includes all possible initial consonants in English in three vowel contexts, (2) tracking the information processing for individual words not only across modalities, but also over time, and (3) testing quantitative models of the time-course of multimodal word recognition. There was an advantage in accuracy for audiovisual speech over auditory-only and visual-only speech. Auditory performance was, however, close to ceiling while performance on visual-only trials was near the floor of the scale, but well above chance. Visual information was used at all gates to identify the presented words. Information theoretic feature analyses of the confusion matrices revealed that the auditory signal is highly informative about voicing, manner, frication, duration, and place of articulation. Visual speech is mostly informative about place of articulation, but also about frication and duration. The auditory signal provides more information about the place of articulation for back consonants, whereas the visual signal provides more information for the labial consonants. The data were sufficient to discriminate between models of audiovisual word recognition. The Fuzzy Logical Model of Perception (FLMP; Massaro, 1998) gave a better account of the confusion matrix data than additive models of perception. A dynamic version of the FLMP was expanded to account for the evaluation and integration of information over time. This dynamic FLMP provided a better description of the data than dynamic additive competitor models. The present study builds a good foundation to investigate the role of the complex interplay between stimulus information and the structure of the lexicon. It provides an important step in building a formal representation of a lexical dynamic FLMP that can account not only for the time-course of speech information and its perceptual processing, but also for lexical influences.

Abstract

Open Science is becoming a mainstream scientific ideology in psychology and related fields. However, researchers, especially early-career researchers (ECRs) in developing countries, are facing significant hurdles in engaging in Open Science and moving it forward. In China, various societal and cultural factors discourage ECRs from participating in Open Science, such as the lack of dedicated communication channels and the norm of modesty. To make the voice of Open Science heard by Chinese-speaking ECRs and scholars at large, the Chinese Open Science Network (COSN) was initiated in 2016. With its core values being grassroots-oriented, diversity, and inclusivity, COSN has grown from a small Open Science interest group to a recognized network both in the Chinese-speaking research community and the international Open Science community. So far, COSN has organized three in-person workshops, 12 tutorials, 48 talks, and 55 journal club sessions and translated 15 Open Science-related articles and blogs from English to Chinese. Currently, the main social media account of COSN (i.e., the WeChat Official Account) has more than 23,000 subscribers, and more than 1,000 researchers/students actively participate in the discussions on Open Science. In this article, we share our experience in building such a network to encourage ECRs in developing countries to start their own Open Science initiatives and engage in the global Open Science movement. We foresee great collaborative efforts of COSN together with all other local and international networks to further accelerate the Open Science movement.

Abstract

In the present study, we used chronometric TMS to probe the time-course of 3 brain regions during a picture naming task. The left inferior frontal gyrus, left posterior middle temporal gyrus, and left posterior superior temporal gyrus were all separately stimulated in 1 of 5 time-windows (225, 300, 375, 450, and 525 ms) from picture onset. We found posterior temporal areas to be causally involved in picture naming in earlier time-windows, whereas all 3 regions appear to be involved in the later time-windows. However, chronometric TMS produces nonspecific effects that may impact behavior, and furthermore, the time-course of any given process is a product of both the involved processing stages along with individual variation in the duration of each stage. We therefore extend previous work in the field by accounting for both individual variations in naming latencies and directly testing for nonspecific effects of TMS. Our findings reveal that both factors influence behavioral outcomes at the group level, underlining the importance of accounting for individual variations in naming latencies, especially for late processing stages closer to articulation, and recognizing the presence of nonspecific effects of TMS. The paper advances key considerations and avenues for future work using chronometric TMS to study overt production.

Abstract

Mutations of the epidermal growth factor receptor (EGFR) gene are found at a relatively high frequency in glioma, with the most common being the de2-7 EGFR (or EGFRvIII). This mutation arises from an in-frame deletion of exons 2–7, which removes 267 amino acids from the extracellular domain of the receptor. Despite being unable to bind ligand, the de2-7 EGFR is constitutively active at a low level. Transfection of human glioma cells with the de2-7 EGFR has little effect in vitro, but when grown as tumor xenografts this mutated receptor imparts a dramatic growth advantage. We have now mapped the phosphorylation pattern of de2-7 EGFR, both in vivo and in vitro, using a panel of antibodies unique to the different phosphorylated tyrosine residues. Phosphorylation of de2-7 EGFR was detected constitutively at all tyrosine sites surveyed both in vitro and in vivo, including tyrosine 845, a known target in the wild-type EGFR for src kinase. There was a substantial upregulation of phosphorylation at every tyrosine residue of the de2-7 EGFR when cells were grown in vivo compared to the receptor isolated from cells cultured in vitro. Upregulation of phosphorylation could be mimicked in vitro by the addition of specifi c components of the ECM such as collagen via an integrin-dependent mechanism. Since this increase in in vivo phosphorylation enhances de2-7 EGFR signaling, this observation explains why the growth enhancement mediated by de2-7 EGFR is largely restricted to the in vivo environment. In a second set of experiments we analyzed the interaction between EGFRvIII and ErbB2. Co-expression of these proteins in NR6 cells, a mouse fi broblast line devoid of ErbB family members, dramatically enhanced in vivo tumorigenicity of these cells compared to cells expressing either protein alone. Detailed analysis of these xenografts demonstrated that EGFRvIII could heterodimerize and transphosphorylate the ErbB2. Since both EGFRvIII and ErbB2 are commonly expressed at gliomas, this data suggests that the co-expression of these two proteins may enhance glioma tumorigenicity.

Abstract

Retaining detailed representations of unstressed syllables is a logical prerequisite for infants' use of probabilistic phonotactics to segment iambic words from fluent speech. The head-turn preference study was used to investigate the nature of English- learners' representations of iambic word onsets. Fifty-four 10.5-month-olds were familiarized to passages containing the nonsense iambic word forms ginome and tupong. Following familiarization, infants were either tested on familiar (ginome and tupong) or near-familiar (pinome and bupong) versus unfamiliar (kidar and mafoos) words. Infants in the familiar test group (familiar vs. unfamiliar) oriented significantly longer to familiar than unfamiliar test items, whereas infants in the near-familiar test group (near-familiar vs. unfamiliar) oriented equally long to near-familiar and unfamiliar test items. Our results provide evidence that infants retain fairly detailed representations of unstressed syllables and therefore support the hypothesis that infants use phonotactic cues to find words in fluent speech.

Abstract

This paper compares the focus marking systems and the focus size that can be expressed by the different focus markings in four Mande and three Atlantic languages and varieties, namely: Bambara, Dyula, Kakabe, Soninke (Mande), Wolof, Jóola Foñy and Jóola Karon (Atlantic). All of these languages are known to mark focus morphosyntactically, rather than prosodically, as the more well-studied Germanic languages do. However, the Mande languages under discussion use only morphology, in the form of a particle that follows the focus, while the Atlantic ones use a more complex morphosyntactic system in which focus is marked by morphology in the verbal complex and movement of the focused term. It is shown that while there are some syntactic restrictions to how many different focus sizes can be marked in a distinct way, there is also a certain degree of arbitrariness as to which focus sizes are marked in the same way as each other.

Abstract

This special issue focuses on the theoretical and empirical underpinnings of truth-marking. The names that have been used to refer to this phenomenon include, among others, counter-assertive focus, polar(ity) focus, verum focus, emphatic polarity or simply verum. This terminological variety is suggestive of the wide range of ideas and conceptions that characterizes this research field. This collection aims to get closer to the core of what truly constitutes verum. We want to expand the empirical base and determine the common and diverging properties of truth-marking in the languages of the world. The objective is to set a theoretical and empirical baseline for future research on verum and related phenomena.

Abstract

Indian Sign Language has limited resources for developing machine learning and data-driven approaches for automated language processing. Though text/audio-based language processing techniques have shown colossal research interest and tremendous improvements in the last few years, Sign Languages still need to catch up due to the need for more resources. To bridge this gap, in this work, we propose iSign: a benchmark for Indian Sign Language (ISL) Processing. We make three primary contributions to this work. First, we release one of the largest ISL-English datasets with more than video-sentence/phrase pairs. To the best of our knowledge, it is the largest sign language dataset available for ISL. Second, we propose multiple NLP-specific tasks (including SignVideo2Text, SignPose2Text, Text2Pose, Word Prediction, and Sign Semantics) and benchmark them with the baseline models for easier access to the research community. Third, we provide detailed insights into the proposed benchmarks with a few linguistic insights into the working of ISL. We streamline the evaluation of Sign Language processing, addressing the gaps in the NLP research community for Sign Languages. We release the dataset, tasks and models via the following website: https://exploration-lab.github.io/iSign/

Abstract

Unilateral anterior disc displacement (uADD) has been shown to affect the contralateral joints qualitatively. This study aims to assess the quantitative T2 values of the articular disc and retrodiscal tissue of patients with uADD at 1.5 Tesla (T). The study included 65 uADD patients and 17 volunteers. The regions of interest on T2 maps were evaluated. The affected joints demonstrated significantly higher articular disc T2 values (31.5 ± 3.8 ms) than those of the unaffected joints (28.9 ± 4.5 ms) (P < 0.001). For retrodiscal tissue, T2 values of the unaffected (37.8 ± 5.8 ms) and affected joints (41.6 ± 7.1 ms) were significantly longer than those of normal volunteers (34.4 ± 3.2 ms) (P < 0.001). Furthermore, uADD without reduction (WOR) joints (43.3 ± 6.8 ms) showed statistically higher T2 values than the unaffected joints of both uADD with reduction (WR) (33.9 ± 3.8 ms) and uADDWOR (38.9 ± 5.8 ms), and the affected joints of uADDWR (35.8 ± 4.4 ms). The mean T2 value of the unaffected joints of uADDWOR was significantly longer than that of healthy volunteers (P < 0.001). These results provided quantitative evidence for the influence of the affected joints on the contralateral joints.

Abstract

The growing importance of research on bilingualism in psychology and neuroscience motivates the need for a psychometric model that can be used to understand and quantify this phenomenon. This research is the first to meet this need. We reanalyzed two data sets (N = 171 and N = 112) from relatively young adult language-unbalanced bilinguals and asked whether bilingualism is best described by the factor structure or by the network structure. The factor and network models were established on one data set and then validated on the other data set in a fully confirmatory manner. The network model provided the best fit to the data. This implies that bilingualism should be conceptualized as an emergent phenomenon arising from direct and idiosyncratic dependencies among the history of language acquisition, diverse language skills, and language-use practices. These dependencies can be reduced to neither a single universal quotient nor to some more general factors. Additional in-depth network analyses showed that the subjective perception of proficiency along with language entropy and language mixing were the most central indices of bilingualism, thus indicating that these measures can be especially sensitive to variation in the overall bilingual experience. Overall, this work highlights the great potential of psychometric network modeling to gain a more accurate description and understanding of complex (psycho)linguistic and cognitive phenomena.

Abstract

Sign language is a rich form of communication, uniquely conveying meaning through a combination of gestures, facial expressions, and body movements. Existing research in sign language generation has predominantly focused on text-to-sign pose generation, while speech-to-sign pose generation remains relatively underexplored. Speech-to-sign language generation models can facilitate effective communication between the deaf and hearing communities. In this paper, we propose an architecture that utilises prosodic information from speech audio and semantic context from text to generate sign pose sequences. In our approach, we adopt a multi-tasking strategy that involves an additional task of predicting Facial Action Units (FAUs). FAUs capture the intricate facial muscle movements that play a crucial role in conveying specific facial expressions during sign language generation. We train our models on an existing Indian Sign language dataset that contains sign language videos with audio and text translations. To evaluate our models, we report Dynamic Time Warping (DTW) and Probability of Correct Keypoints (PCK) scores. We find that combining prosody and text as input, along with incorporating facial action unit prediction as an additional task, outperforms previous models in both DTW and PCK scores. We also discuss the challenges and limitations of speech-to-sign pose generation models to encourage future research in this domain. We release our models, results and code to foster reproducibility and encourage future research1.

Abstract

We investigated prediction skills of adult heritage speakers and the role of written and spoken language experience on predictive processing. Using visual world eye-tracking, we focused on predictive use of case-marking cues in verb-medial and verb-final sentences in Turkish with adult Turkish heritage speakers (N = 25) and Turkish monolingual speakers (N = 24). Heritage speakers predicted in verb-medial sentences (when verb-semantic and case-marking cues were available), but not in verb-final sentences (when only case-marking cues were available) while monolinguals predicted in both. Prediction skills of heritage speakers were modulated by their spoken language experience in Turkish and written language experience in both languages. Overall, these results strongly suggest that verb-semantic information is needed to scaffold the use of morphosyntactic cues for prediction in heritage speakers. The findings also support the notion that both spoken and written language experience play an important role in predictive spoken language processing.

Abstract

Prior work with hearing children acquiring a spoken language as their first language shows that spatial language and cognition are related systems and spatial language use predicts spatial memory. Here, we further investigate the extent of this relationship in signing deaf children and adults and ask if late sign language exposure, as well as the frequency and the type of spatial language use that might be affected by late exposure, modulate subsequent memory for spatial relations. To do so, we compared spatial language and memory of 8-year-old late-signing children (after 2 years of exposure to a sign language at the school for the deaf) and late-signing adults to their native-signing counterparts. We elicited picture descriptions of Left-Right relations in Turkish Sign Language (Türk İşaret Dili) and measured the subsequent recognition memory accuracy of the described pictures. Results showed that late-signing adults and children were similar to their native-signing counterparts in how often they encoded the spatial relation. However, late-signing adults but not children differed from their native-signing counterparts in the type of spatial language they used. However, neither late sign language exposure nor the frequency and type of spatial language use modulated spatial memory accuracy. Therefore, even though late language exposure seems to influence the type of spatial language use, this does not predict subsequent memory for spatial relations. We discuss the implications of these findings based on the theories concerning the correspondence between spatial language and cognition as related or rather independent systems.

Abstract

When learning a spoken second language (L2), words overlapping in form and meaning with one’s native language (L1) help break into the new language. When non-signing speakers learn a sign language as L2, such forms are absent because of the modality differences (L1:speech, L2:sign). In such cases, non-signing speakers might use iconic form-meaning mappings in signs or their own gestural experience as gateways into the to-be-acquired sign language. Here, we investigated how both these factors may contribute jointly to the acquisition of sign language vocabulary by hearing non-signers. Participants were presented with three types of sign in NGT (Sign Language of the Netherlands): arbitrary signs, iconic signs with high or low gesture overlap. Signs that were both iconic and highly overlapping with gestures boosted learning most at first exposure, and this effect remained the day after. Findings highlight the influence of modality-specific factors supporting the acquisition of a signed lexicon.

Abstract

The 8p23.1 duplication syndrome is a rare genetic condition with an estimated prevalence rate of 1 out of 58,000. Although the syndrome was associated with speech and language delays, a comprehensive assessment of speech and language functions has not been undertaken in this population. To address this issue, the present study reports rigorous speech and language, in addition to oral-facial and developmental, assessment of a 50-month-old Turkish-speaking boy who was diagnosed with the 8p23.1 duplication syndrome. Standardized tests of development, articulation and phonology, receptive and expressive language and a language sample analysis were administered to characterize speech and language skills in the patient. The language sample was obtained in an ecologically valid, free play and conversation context. The language sample was then analyzed and compared to a database of age-matched typically-developing children (n = 33) in terms of intelligibility, morphosyntax, semantics/vocabulary, discourse, verbal facility and percentage of errors at word and utterance levels. The results revealed mild to severe problems in articulation and phonology, receptive and expressive language skills, and morphosyntax (mean length of utterance in morphemes). Future research with larger sample sizes and employing detailed speech and language assessment is needed to delineate the speech and language profile in individuals with the 8p23.1 duplication syndrome, which will guide targeted speech and language interventions.

Abstract

Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and planning deficits. Genetic factors make substantive contributions to CAS aetiology, with a monogenic pathogenic variant identified in a third of cases, implicating around 20 single genes to date. Here we aimed to identify molecular causation in 70 unrelated probands ascertained with CAS. We performed trio genome sequencing. Our bioinformatic analysis examined single nucleotide, indel, copy number, structural and short tandem repeat variants. We prioritised appropriate variants arising de novo or inherited that were expected to be damaging based on in silico predictions. We identified high confidence variants in 18/70 (26%) probands, almost doubling the current number of candidate genes for CAS. Three of the 18 variants affected SETBP1, SETD1A and DDX3X, thus confirming their roles in CAS, while the remaining 15 occurred in genes not previously associated with this disorder. Fifteen variants arose de novo and three were inherited. We provide further novel insights into the biology of child speech disorder, highlighting the roles of chromatin organization and gene regulation in CAS, and confirm that genes involved in CAS are co-expressed during brain development. Our findings confirm a diagnostic yield comparable to, or even higher, than other neurodevelopmental disorders with substantial de novo variant burden. Data also support the increasingly recognised overlaps between genes conferring risk for a range of neurodevelopmental disorders. Understanding the aetiological basis of CAS is critical to end the diagnostic odyssey and ensure affected individuals are poised for precision medicine trials.