Publications

Abstract

This book presents a detailed formal machinery for the conversion of the Semantic Analyses (SAs) of sentences into surface structures of English, French, German, Dutch, and to some extent Turkish. The SAs are propositional structures consisting of a predicate and one, two or three argument terms, some of which can themselves be propositional structures. The surface structures are specified up to, but not including, the morphology. The book is thus an implementation of the programme formulated first by Albert Sechehaye (1870-1946) and then, independently, by James McCawley (1938-1999) in the school of Generative Semantics. It is the first, and so far the only formally precise and empirically motivated machinery in existence converting meaning representations into sentences of natural languages.

Abstract

The present study examined two acoustic cues in the production
of lexical stress in Dutch: spectral tilt and overall intensity.
Sluijter and Van Heuven (1996) reported that spectral tilt is a
more reliable cue to stress than intensity. However, that study
included only a small number of talkers (10) and only syllables
with the vowels /aː/ and /ɔ/.
The present study re-examined this issue in a larger and
more variable dataset. We recorded 38 native speakers of Dutch
(20 females) producing 744 tokens of Dutch segmentally
overlapping words (e.g., VOORnaam vs. voorNAAM, “first
name” vs. “respectable”), targeting 10 different vowels, in
variable sentence contexts. For each syllable, we measured
overall intensity and spectral tilt following Sluijter and Van
Heuven (1996).
Results from Linear Discriminant Analyses showed that,
for the vowel /aː/ alone, spectral tilt showed an advantage over
intensity, as evidenced by higher stressed/unstressed syllable
classification accuracy scores for spectral tilt. However, when
all vowels were included in the analysis, the advantage
disappeared.
These findings confirm that spectral tilt plays a larger role
in signaling stress in Dutch /aː/ but show that, for a larger
sample of Dutch vowels, overall intensity and spectral tilt are
equally important.

Abstract

Small average differences in the left-right asymmetry of cerebral cortical thickness have been reported in individuals with autism spectrum disorder (ASD) compared to typically developing controls, affecting widespread cortical regions. The possible impacts of these regional alterations in terms of structural network effects have not previously been characterized. Inter-regional morphological covariance analysis can capture network connectivity between different cortical areas at the macroscale level. Here, we used cortical thickness data from 1455 individuals with ASD and 1560 controls, across 43 independent datasets of the ENIGMA consortium’s ASD Working Group, to assess hemispheric asymmetries of intra-individual structural covariance networks, using graph theory-based topological metrics. Compared with typical features of small-world architecture in controls, the ASD sample showed significantly altered average asymmetry of networks involving the fusiform, rostral middle frontal, and medial orbitofrontal cortex, involving higher randomization of the corresponding right-hemispheric networks in ASD. A network involving the superior frontal cortex showed decreased right-hemisphere randomization. Based on comparisons with meta-analyzed functional neuroimaging data, the altered connectivity asymmetry particularly affected networks that subserve executive functions, language-related and sensorimotor processes. These findings provide a network-level characterization of altered left-right brain asymmetry in ASD, based on a large combined sample. Altered asymmetrical brain development in ASD may be partly propagated among spatially distant regions through structural connectivity.

Abstract

A corpus of digitized speech errors is used to compare the prosody of correction patterns for word-level vs. sound-level errors. Results for both peak F0 and perceived prosodic markedness confirm that speakers are more likely to mark corrections of word-level errors than corrections of sound-level errors, and that errors ambiguous between word-level and soundlevel (such as boat for moat) show correction patterns like those for sound level errors. This finding increases the plausibility of the claim that word-sound-ambiguous errors arise at the same level of processing as sound errors that do not form words.

Abstract

Understanding language semantically related to actions activates the motor cortex. This activation is sensitive to semantic information such as the body part used to perform the action (e.g. arm-/leg-related action words). Additionally, motor movements of the hands/feet can have a causal effect on memory maintenance of action words, suggesting that the involvement of motor systems extends to working memory. This study examined brain correlates of verbal memory load for action-related words using event-related fMRI. Seventeen participants saw either four identical or four different words from the same category (arm-/leg-related action words) then performed a nonmatching-to-sample task. Results show that verbal memory maintenance in the high-load condition produced greater activation in left premotor and supplementary motor cortex, along with posterior-parietal areas, indicating that verbal memory circuits for action-related words include the cortical action system. Somatotopic memory load effects of arm- and leg-related words were observed, but only at more anterior cortical regions than was found in earlier studies employing passive reading tasks. These findings support a neurocomputational model of distributed action-perception circuits (APCs), according to which language understanding is manifest as full ignition of APCs, whereas working memory is realized as reverberant activity receding to multimodal prefrontal and lateral temporal areas.

Abstract

Aboriginal languages threatened by speakers poor economic and social conditions; some may survive through support for community development, language maintenance, bilingual education and training of Aboriginal teachers and linguists, and nonAboriginal teachers of Aboriginal and Islander students.

Abstract

We investigated the effect of optionality on the acquisition of new/given markers, with a special focus on grammaticalization as a stage of optional use of the emerging form. To this end, we conducted a narrative-elicitation task with 5-year-old children and adults across four typologically-distinct languages with different new/given markers: English, Hindi, Mandinka and Spanish. Our starting assumption was that the Hindi numeral ‘ek’ (one) is developing into an indefinite article, which should delay children’s acquisition because of its optional use to introduce discourse referents. Supporting the Optionality Hypothesis, Experiment 1 revealed that obligatory markers are acquired earlier than optional markers. Experiment 2 focused on Hindi and showed that 10-year-old children’s use of ‘ek’ to introduce discourse characters was higher than 5-year-olds’ and comparable to adults’, replicating this pattern of results in two different cities in Northern India. Lastly, a follow-up study showed that Mandinka-speaking children and adults made use of all available discourse markers when tested on a familiar story, rather than with pictorial prompts, highlighting the importance of using culturally-appropriate methods of narrative elicitation in cross-linguistic research. We conclude by discussing the implications of article grammaticalization for common ground management in a speech community.

Abstract

While most research on scalar implicature has focused on the lexical scale “some” vs “all,” here we investigated an understudied scale formed by two syntactic constructions: categorizations (e.g., “Wilma is a nurse”) and comparisons (“Wilma is like a nurse”). An experimental study by Rubio-Fernandez et al. (2017) showed high rates of logical responses to superordinate comparisons, even though they are underinformative when interpreted pragmatically (e.g., “A robin is like a bird” implies that a robin is not a bird). Based on recent studies on enrichment priming, we predicted that including “some” and “all” statements (which typically elicit high rates of pragmatic responses) in sentence verification and sentence evaluation tasks would introduce an informativity bias, increasing pragmatic responses to superordinate comparisons. The results of three Web-based experiments supported our predictions, showing that different scalar expressions not only give rise to different rates of scalar implicatures, but can also affect the degree to which an experimental task elicits pragmatic reasoning.

Abstract

The present study examined how the updating, inhibiting, and shifting abilities underlying executive control influence spoken noun-phrase production. Previous studies provided evidence that updating and inhibiting, but not shifting, influence picture naming response time (RT). However, little is known about the role of executive control in more complex forms of language production like generating phrases. We assessed noun-phrase production using picture description and a picture-word interference procedure. We measured picture description RT to assess length, distractor, and switch effects, which were assumed to reflect, respectively, the updating, inhibiting, and shifting abilities of adult participants. Moreover, for each participant we obtained scores on executive control tasks that measured verbal and nonverbal updating, nonverbal inhibiting, and nonverbal shifting. We found that both verbal and nonverbal updating scores correlated with the overall mean picture description RTs. Furthermore, the length effect in the RTs correlated with verbal but not nonverbal updating scores, while the distractor effect correlated with inhibiting scores. We did not find a correlation between the switch effect in the mean RTs and the shifting scores. However, the shifting scores correlated with the switch effect in the normal part of the underlying RT distribution. These results suggest that updating, inhibiting, and shifting each influence the speed of phrase production, thereby demonstrating a contribution of all three executive control abilities to language production.

Abstract

Since Pillsbury [1908. Attention. London: Swan Sonnenschein & Co], the issue of whether attention operates through inhibition or enhancement has been on the scientific agenda. We examined whether overcoming previous attentional inhibition or enhancement is the source of asymmetrical switch costs in spoken noun-phrase production and colour-word Stroop tasks. In Experiment 1, using bivalent stimuli, we found asymmetrical costs in response times for switching between long and short phrases and between Stroop colour naming and reading. However, in Experiment 2, using bivalent stimuli for the weaker tasks (long phrases, colour naming) and univalent stimuli for the stronger tasks (short phrases, word reading), we obtained an asymmetrical switch cost for phrase production, but a symmetrical cost for Stroop. The switch cost evidence was quantified using Bayesian statistical analyses. Our findings suggest that switching between phrase types involves inhibition, whereas switching between colour naming and reading involves enhancement. Thus, the attentional mechanism depends on the language-production task involved. The results challenge theories of task switching that assume only one attentional mechanism, inhibition or enhancement, rather than both mechanisms.

Abstract

Recently, it has been proposed that sequence learning engages a combination of modality-specific operating networks and modality-independent computational principles. In the present study, we compared the behavioural and EEG outcomes of implicit artificial grammar learning in the visual vs. auditory modality. We controlled for the influence of surface characteristics of sequences (Associative Chunk Strength), thus focusing on the strictly structural aspects of sequence learning, and we adapted the paradigms to compensate for known frailties of the visual modality compared to audition (temporal presentation, fast presentation rate). The behavioural outcomes were similar across modalities. Favouring the idea of modality-specificity, ERPs in response to grammar violations differed in topography and latency (earlier and more anterior component in the visual modality), and ERPs in response to surface features emerged only in the auditory modality. In favour of modality-independence, we observed three common functional properties in the late ERPs of the two grammars: both were free of interactions between structural and surface influences, both were more extended in a grammaticality classification test than in a preference classification test, and both correlated positively and strongly with theta event-related-synchronization during baseline testing. Our findings support the idea of modality-specificity combined with modality-independence, and suggest that memory for visual vs. auditory sequences may largely contribute to cross-modal differences.

Abstract

Important speech cues such as lexical tone and vowel quality are perceptually contrasted to the distribution of those same cues in surrounding contexts. However, it is unclear whether preceding and following contexts have similar influences, and to what extent those influences are modulated by the auditory history of previous trials. To investigate this, Cantonese participants labeled sounds from (a) a tone continuum (mid- to high-level), presented with a context that had raised or lowered F0 values and (b) a vowel quality continuum (/u/ to /o/), where the context had raised or lowered F1 values. Contexts with high or low F0/F1 were presented in separate blocks or intermixed in 1 block. Contexts were presented following (Experiment 1) or preceding the target continuum (Experiment 2). Contrastive effects were found for both tone and vowel quality (e.g., decreased F0 values in contexts lead to more high tone target judgments and vice versa). Importantly, however, lexical tone was only influenced by F0 in immediately preceding and following contexts. Vowel quality was only influenced by the F1 in preceding contexts, but this extended to contexts from preceding trials. Contextual influences on tone and vowel quality are qualitatively different, which has important implications for understanding the mechanism of context effects in speech perception.

Abstract

Young children's visual environments are dynamic, changing moment-by-moment as children physically and visually explore spaces and objects and interact with people around them. Head-mounted eye tracking offers a unique opportunity to capture children's dynamic egocentric views and how they allocate visual attention within those views. This protocol provides guiding principles and practical recommendations for researchers using head-mounted eye trackers in both laboratory and more naturalistic settings. Head-mounted eye tracking complements other experimental methods by enhancing opportunities for data collection in more ecologically valid contexts through increased portability and freedom of head and body movements compared to screen-based eye tracking. This protocol can also be integrated with other technologies, such as motion tracking and heart-rate monitoring, to provide a high-density multimodal dataset for examining natural behavior, learning, and development than previously possible. This paper illustrates the types of data generated from head-mounted eye tracking in a study designed to investigate visual attention in one natural context for toddlers: free-flowing toy play with a parent. Successful use of this protocol will allow researchers to collect data that can be used to answer questions not only about visual attention, but also about a broad range of other perceptual, cognitive, and social skills and their development.

Abstract

Sign languages use multiple articulators and iconicity in the visual modality which allow linguistic units to be organized not only linearly but also simultaneously. Recent research has shown that users of an established sign language such as LIS (Italian Sign Language) use simultaneous and iconic constructions as a modality-specific resource to achieve communicative efficiency when they are required to encode informationally rich events. However, it remains to be explored whether the use of such simultaneous and iconic constructions recruited for communicative efficiency can be employed even without a linguistic system (i.e., in silent gesture) or whether they are specific to linguistic patterning (i.e., in LIS). In the present study, we conducted the same experiment as in Slonimska et al. with 23 Italian speakers using silent gesture and compared the results of the two studies. The findings showed that while simultaneity was afforded by the visual modality to some extent, its use in silent gesture was nevertheless less frequent and qualitatively different than when used within a linguistic system. Thus, the use of simultaneous and iconic constructions for communicative efficiency constitutes an emergent property of sign languages. The present study highlights the importance of studying modality-specific resources and their use for linguistic expression in order to promote a more thorough understanding of the language faculty and its modality-specific adaptive capabilities.

Abstract

Abstract In the past, several assessment reports on writing repeatedly showed that elementary school students do not develop the essential writing skills to be successful in school. In this respect, prior research has pointed to the fact that cognitive and motivational challenges are at the root of the rather basic level of elementary students' writing performance. Additionally, previous research has revealed gender and achievement-level differences in elementary students' writing. In view of providing effective writing instruction for all students to overcome writing difficulties, the present study provides more in-depth insight into (a) how cognitive and motivational challenges mediate and correlate with students' writing performance and (b) whether and how these relations vary for boys and girls and for writers of different achievement levels. In the present study, 1,577 fifth- and sixth-grade students completed questionnaires regarding their writing self-efficacy, writing motivation, and writing strategies. In addition, half of the students completed two writing tests, respectively focusing on the informational or narrative text genre. Based on multiple group structural equation modeling (MG-SEM), we put forward two models: a MG-SEM model for boys and girls and a MG-SEM model for low, average, and high achievers. The results underline the importance of studying writing models for different groups of students in order to gain more refined insight into the complex interplay between motivational and cognitive challenges related to students' writing performance.

Abstract

The appropriate definition and scaling of the magnitude of electroencephalogram (EEG) oscillations is an underdeveloped area. The aim of this study was to optimize the analysis of resting EEG alpha magnitude, focusing on alpha peak frequency and nonlinear transformation of alpha power. A family of nonlinear transforms, Box-Cox transforms, were applied to find the transform that (a) maximized a non-disputed effect: the increase in alpha magnitude when the eyes are closed (Berger effect), and (b) made the distribution of alpha magnitude closest to normal across epochs within each participant, or across participants. The transformations were performed either at the single epoch level or at the epoch-average level. Alpha peak frequency showed large individual differences, yet good correspondence between various ways to estimate it in 2min of eyes-closed and 2min of eyes-open resting EEG data. Both alpha magnitude and the Berger effect were larger for individual alpha than for a generic (8-12Hz) alpha band. The log-transform on single epochs (a) maximized the t-value of the contrast between the eyes-open and eyes-closed conditions when tested within each participant, and (b) rendered near-normally distributed alpha power across epochs and participants, thereby making further transformation of epoch averages superfluous. The results suggest that the log-normal distribution is a fundamental property of variations in alpha power across time in the order of seconds. Moreover, effects on alpha power appear to be multiplicative rather than additive. These findings support the use of the log-transform on single epochs to achieve appropriate scaling of alpha magnitude.

Abstract

Chromatin remodeling is of crucial importance during brain development. Pathogenic
alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental
disorders. We describe an index case with a de novo missense mutation in CHD3,
identified during whole genome sequencing of a cohort of children with rare speech disorders.
To gain a comprehensive view of features associated with disruption of this gene, we use a
genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3
mutations and overlapping phenotypes. Most mutations cluster within the ATPase/helicase
domain of the encoded protein. Modeling their impact on the three-dimensional structure
demonstrates disturbance of critical binding and interaction motifs. Experimental assays with
six of the identified mutations show that a subset directly affects ATPase activity, and all but
one yield alterations in chromatin remodeling. We implicate de novo CHD3 mutations in a
syndrome characterized by intellectual disability, macrocephaly, and impaired speech and
language.

Abstract

Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to a cohort of 13 affected individuals harboring protein-altering variants, 11 of which are de novo, in MED13; the only inherited variant was transmitted to an affected child from an affected mother. All patients had intellectual disability and/or developmental delays, including speech delays or disorders. Other features that were reported in two or more patients include autism spectrum disorder, attention deficit hyperactivity disorder, optic nerve abnormalities, Duane anomaly, hypotonia, mild congenital heart abnormalities, and dysmorphisms. Six affected individuals had mutations that are predicted to truncate the MED13 protein, six had missense mutations, and one had an in-frame-deletion of one amino acid. Out of the seven non-truncating mutations, six clustered in two specific locations of the MED13 protein: an N-terminal and C-terminal region. The four N-terminal clustering mutations affect two adjacent amino acids that are known to be involved in MED13 ubiquitination and degradation, p.Thr326 and p.Pro327. MED13 is a component of the CDK8-kinase module that can reversibly bind Mediator, a multi-protein complex that is required for Polymerase II transcription initiation. Mutations in several other genes encoding subunits of Mediator have been previously shown to associate with DD/ID, including MED13L, a paralog of MED13. Thus, our findings add MED13 to the group of CDK8-kinase module-associated disease genes

Abstract

The Enhancing NeuroImaging Genetics through Meta‐Analysis copy number variant (ENIGMA‐CNV) and 22q11.2 Deletion Syndrome Working Groups (22q‐ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA‐CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q‐ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest‐ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi‐site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene‐dosage effects on distinct brain regions also emerged, providing further insight into genotype–phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This “genotype‐first” approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.

Abstract

We present results from cross-modal priming experiments on German participles and noun plurals. The experiments produced parallel results for both inflectional systems. Regular inflection exhibits full priming whereas irregularly inflected word forms show only partial priming: after hearing regularly inflected words (-t participles and -s plurals), lexical decision times on morphologically related word forms (presented visually) were similar to reaction times for a base-line condition in which prime and target were identical, but significantly shorter than in a control condition where prime and target were unrelated. In contrast, prior presentation of irregular words (-n participles and -er plurals) led to significantly longer response times on morphologically related word forms than the prior presentation of the target itself. Hence, there are clear priming differences between regularly and irregularly inflected German words. We compare the findings on German with experimental results on regular and irregular inflection in English and Italian, and discuss theoretical implications for single versus dual-mechanism models of inflection.

Abstract

Traditional psycholinguistic studies take place in controlled experimental labs and typically involve testing undergraduate psychology or linguistics students. Investigating psycholinguistics in this manner calls into question the external validity of findings, that is, the extent to which research findings generalize across languages and cultures, as well as ecologically valid settings. Here we consider three ways in which psycholinguistics can be taken out of the lab. First, researchers can conduct cross-cultural fieldwork in diverse languages and cultures. Second, they can conduct online experiments or experiments in institutionalized public spaces (e.g., museums) to obtain large, diverse participant samples. And, third, researchers can perform studies in more ecologically valid settings, to increase the real-world generalizability of findings. By moving away from the traditional lab setting, psycholinguists can enrich their understanding of language use in all its rich and diverse contexts.

Abstract

Do we mentally simulate olfactory information? We investigated mental simulation of odors and sounds in two experiments. Participants retained a word while they smelled an odor or heard a sound, then rated odor/sound intensity and recalled the word. Later odor/sound recognition was also tested, and pleasantness and familiarity judgments were collected. Word recall was slower when the sound and sound-word mismatched (e.g., bee sound with the word typhoon). Sound recognition was higher when sounds were paired with a match or near-match word (e.g., bee sound with bee or buzzer). This indicates sound-words are mentally simulated. However, using the same paradigm no memory effects were observed for odor. Instead it appears odor-words only affect lexical-semantic representations, demonstrated by higher ratings of odor intensity and pleasantness when an odor was paired with a match or near-match word (e.g., peach odor with peach or mango). These results suggest fundamental differences in how odor and sound-words are represented.

Abstract

We report an individual with music-odor synaesthesia who experiences automatic and vivid odor sensations when she hears music. S’s odor associations were recorded on two days, and compared with those of two control participants. Overall, S produced longer descriptions, and her associations were of multiple odors at once, in comparison to controls who typically reported a single odor. Although odor associations were qualitatively different between S and controls, ratings of the consistency of their descriptions did not differ. This demonstrates that crossmodal associations between music and odor exist in non-synaesthetes too. We also found that S is better at discriminating between odors than control participants, and is more likely to experience emotion, memories and evaluations triggered by odors, demonstrating the broader impact of her synaesthesia.

Abstract

Olfaction is often considered a vestigial sense in humans, demoted throughout evolution to make way for the dominant sense of vision. This perspective on olfaction is reflected in how we think and talk about smells in the West, with odor imagery and odor language reported to be difficult. In the present study we demonstrate odor cognition is superior in odor-color synaesthesia, where there are additional sensory connections to odor concepts. Synaesthesia is a neurological phenomenon in which input in 1 modality leads to involuntary perceptual associations. Semantic accounts of synaesthesia posit synaesthetic associations are mediated by activation of inducing concepts. Therefore, synaesthetic associations may strengthen conceptual representations. To test this idea, we ran 6 odor-color synaesthetes and 17 matched controls on a battery of tasks exploring odor and color cognition. We found synaesthetes outperformed controls on tests of both odor and color discrimination, demonstrating for the first time enhanced perception in both the inducer (odor) and concurrent (color) modality. So, not only do synaesthetes have additional perceptual experiences in comparison to controls, their primary perceptual experience is also different. Finally, synaesthetes were more consistent and accurate at naming odors. We propose synaesthetic associations to odors strengthen odor concepts, making them more differentiated (facilitating odor discrimination) and easier to link with lexical representations (facilitating odor naming). In summary, we show for the first time that both odor language and perception is enhanced in people with synaesthetic associations to odors

Abstract

To acquire language, infants must learn to segment words from running speech. A significant body of experimental research shows that infants use multiple cues to do so; however, little research has comprehensively examined the distribution of such cues in naturalistic speech. We conducted a comprehensive corpus analysis of German child-directed speech (CDS) using data from the Child Language Data Exchange System (CHILDES) database, investigating the availability of word stress, transitional probabilities (TPs), and lexical and sublexical frequencies as potential cues for word segmentation. Seven hours of data (~15,000 words) were coded, representing around an average day of speech to infants. The analysis revealed that for 97% of words, primary stress was carried by the initial syllable, implicating stress as a reliable cue to word onset in German CDS. Word identity was also marked by TPs between syllables, which were higher within than between words, and higher for backwards than forwards transitions. Words followed a Zipfian-like frequency distribution, and over two-thirds of words (78%) were monosyllabic. Of the 50 most frequent words, 82% were function words, which accounted for 47% of word tokens in the entire corpus. Finally, 15% of all utterances comprised single words. These results give rich novel insights into the availability of segmentation cues in German CDS, and support the possibility that infants draw on multiple converging cues to segment their input. The data, which we make openly available to the research community, will help guide future experimental investigations on this topic.

Abstract

Statistical learning (SL) is assumed to lead to long-term memory representations. However, the way that those representations influence future learning remains largely unknown. We studied how children’s existing distributional linguistic knowledge influences their subsequent SL on a serial recall task, in which 49 German-speaking seven- to nine-year-old children repeated a series of six-syllable sequences. These contained either (i) bisyllabic words based on frequently occurring German syllable transitions (naturalistic sequences), (ii) bisyllabic words created from unattested syllable transitions (non-naturalistic sequences), or (iii) random syllable combinations (unstructured foils). Children demonstrated learning from naturalistic sequences from the beginning of the experiment, indicating that their implicit memory traces derived from their input language informed learning from the very early stages onward. Exploratory analyses indicated that children with a higher language proficiency were more accurate in repeating the sequences and improved most throughout the study compared to children with lower proficiency.

Abstract

Dutch and German employ voicing contrasts, but Dutch lacks the ‘voiced’ dorsal plosive /ɡ/. We exploited this accidental phonological gap, measuring the presence of prevoicing and voice onset time durations during speech production to determine (1) whether preliterate bilingual Dutch–German and monolingual Dutch-speaking children aged 3;6–6;0 years generalized voicing to /ɡ/ in Dutch; and (2) whether there was evidence for featural cross-linguistic influence from Dutch to German in bilingual children, testing monolingual German-speaking children as controls. Bilingual and monolingual children’s production of /ɡ/ provided partial evidence for feature generalization: in Dutch, both bilingual and monolingual children either recombined Dutch voicing and place features to produce /ɡ/, suggesting feature generalization, or resorted to producing familiar /k/, suggesting segment-level adaptation within their Dutch phonological system. In German, bilingual children’s production of /ɡ/ was influenced by Dutch although the Dutch phoneme inventory lacks /ɡ/. This suggests that not only segments but also voicing features can exert cross-linguistic influence. Taken together, phonological features appear to play a crucial role in aspects of bilingual and monolingual children’s speech production.

Abstract

This study assesses the effects of age and language exposure on VOT production in 29 simultaneous bilingual children aged 3;7 to 5;11 who speak German as a heritage language in the Netherlands. Dutch and German have a binary voicing contrast, but the contrast is implemented with different VOT values in the two languages. The results suggest that bilingual children produce ‘voiced’ plosives similarly in their two languages, and these productions are not monolingual-like in either language. Bidirectional cross-linguistic influence between Dutch and German can explain these results. Yet, the bilinguals seemingly have two autonomous categories for Dutch and German ‘voiceless’ plosives. In German, the bilinguals’ aspiration is not monolingual-like, but bilinguals with more heritage language exposure produce more target-like aspiration. Importantly, the amount of exposure to German has no effect on the majority language's ‘voiceless’ category. This implies that more heritage language exposure is associated with more language-specific voicing systems.

Abstract

Human intracranial electroencephalography (iEEG) recordings provide data with much greater spatiotemporal precision
than is possible from data obtained using scalp EEG, magnetoencephalography (MEG), or functional MRI. Until recently,
the fusion of anatomical data (MRI and computed tomography (CT) images) with electrophysiological data and their
subsequent analysis have required the use of technologically and conceptually challenging combinations of software.
Here, we describe a comprehensive protocol that enables complex raw human iEEG data to be converted into more readily
comprehensible illustrative representations. The protocol uses an open-source toolbox for electrophysiological data
analysis (FieldTrip). This allows iEEG researchers to build on a continuously growing body of scriptable and reproducible
analysis methods that, over the past decade, have been developed and used by a large research community. In this
protocol, we describe how to analyze complex iEEG datasets by providing an intuitive and rapid approach that can handle
both neuroanatomical information and large electrophysiological datasets. We provide a worked example using
an example dataset. We also explain how to automate the protocol and adjust the settings to enable analysis of
iEEG datasets with other characteristics. The protocol can be implemented by a graduate student or postdoctoral
fellow with minimal MATLAB experience and takes approximately an hour to execute, excluding the automated cortical
surface extraction.

Abstract

Successful spoken-word recognition relies on an interplay between lexical and sublexical processing. Previous research demonstrated that listeners readily shift between more lexically-biased and more sublexically-biased modes of processing in response to the situational context in which language comprehension takes place. Recognizing words in the presence of background noise reduces the perceptual evidence for the speech signal and – compared to the clear – results in greater uncertainty. It has been proposed that, when dealing with greater uncertainty, listeners rely more strongly on sublexical processing. The present study tested this proposal using behavioral and electroencephalography (EEG) measures. We reasoned that such an adjustment would be reflected in changes in the effects of variables predicting recognition performance with loci at lexical and sublexical levels, respectively. We presented native speakers of Dutch with words featuring substantial variability in (1) word frequency (locus at lexical level), (2) phonological neighborhood density (loci at lexical and sublexical levels) and (3) phonotactic probability (locus at sublexical level). Each participant heard each word in noise (presented at one of three signal-to-noise ratios) and in the clear and performed a two-stage lexical decision and transcription task while EEG was recorded. Using linear mixed-effects analyses, we observed behavioral evidence that listeners relied more strongly on sublexical processing when speech quality decreased. Mixed-effects modelling of the EEG signal in the clear condition showed that sublexical effects were reflected in early modulations of ERP components (e.g., within the first 300 ms post word onset). In noise, EEG effects occurred later and involved multiple regions activated in parallel. Taken together, we found evidence – especially in the behavioral data – supporting previous accounts that the presence of background noise induces a stronger reliance on sublexical processing.

Abstract

As participants repeatedly interact using graphical signals (as in a game of Pictionary), the signals gradually shift from being iconic (or motivated) to being symbolic (or arbitrary). The aim here is to test experimentally whether this change in the form of the signal implies a concomitant shift in the inferential mechanisms needed to understand it. The results show that, during early, iconic stages, there is more reliance on creative inferential processes associated with insight problem solving, and that the recruitment of these cognitive mechanisms decreases over time. The variation in inferential mechanism is not predicted by the sign’s visual complexity or iconicity, but by its familiarity, and by the complexity of the relevant mental representations. The discussion explores implications for pragmatics, language evolution, and iconicity research.

Abstract

Language development research suggests a universal tendency for children to be under- informative in narrating motion events by omitting components such as Path, Manner or Ground. However, this assumption has not been tested for children acquiring sign language. Due to the affordances of the visual-spatial modality of sign languages for iconic expression, signing children might omit event components less frequently than speaking children. Here we analysed motion event descriptions elicited from deaf children (4–10 years) acquiring Turkish Sign Language (TİD) and their Turkish-speaking peers. While children omitted all types of event components more often than adults, signing children and adults encoded more Path and Manner in TİD than their peers in Turkish. These results provide more evidence for a general universal tendency for children to omit event components as well as a modality bias for sign languages to encode both Manner and Path more frequently than spoken languages.

Abstract

Previous research has shown that spatial language is sensitive to the effects of delayed language exposure. Locative encodings of late-signing deaf adults varied from those of early-signing deaf adults in the preferred types of linguistic forms. In the current study, we investigated whether such differences would be found in spatial language use of deaf children with deaf parents who are either early or late signers of Turkish Sign Language (TİD). We analyzed locative encodings elicited from these two groups of deaf children for the use of different linguistic forms and the types of classifier handshapes. Our findings revealed differences between these two groups of deaf children in their preferred types of linguistic forms, which showed parallels to differences between late versus early deaf adult signers as reported by earlier studies. Deaf children in the current study, however, were similar to each other in the type of classifier handshapes that they used in their classifier constructions. Our findings have implications for expanding current knowledge on to what extent variation in language input (i.e., from early vs. late deaf signers) is reflected in children’s productions as well as the role of linguistic input on language development in general.

Abstract

Finnish vowel harmony rules require that if the vowel in the first syllable of a word belongs to one of two vowel sets, then all subsequent vowels in that word must belong either to the same set or to a neutral set. A harmony mismatch between two syllables containing vowels from the opposing sets thus signals a likely word boundary. We report five experiments showing that Finnish listeners can exploit this information in an on-line speech segmentation task. Listeners found it easier to detect words likehymyat the end of the nonsense stringpuhymy(where there is a harmony mismatch between the first two syllables) than in the stringpyhymy(where there is no mismatch). There was no such effect, however, when the target words appeared at the beginning of the nonsense string (e.g.,hymypuvshymypy). Stronger harmony effects were found for targets containing front harmony vowels (e.g.,hymy) than for targets containing back harmony vowels (e.g.,paloinkypaloandkupalo). The same pattern of results appeared whether target position within the string was predictable or unpredictable. Harmony mismatch thus appears to provide a useful segmentation cue for the detection of word onsets in Finnish speech.

Abstract

In this study the N400 component of the event-related potential was used to investigate spoken sentence understanding in Broca's and Wernicke's aphasics. The aim of the study was to determine whether spoken sentence comprehension problems in these patients might result from a deficit in the on-line integration of lexical information. Subjects listened to sentences spoken at a normal rate. In half of these sentences, the meaning of the final word of the sentence matched the semantic specifications of the preceding sentence context. In the other half of the sentences, the sentence-final word was anomalous with respect to the preceding sentence context. The N400 was measured to the sentence-final words in both conditions. The results for the aphasic patients (n = 14) were analyzed according to the severity of their comprehension deficit and compared to a group of 12 neurologically unimpaired age-matched controls, as well as a group of 6 nonaphasic patients with a lesion in the right hemisphere. The nonaphasic brain damaged patients and the aphasic patients with a light comprehension deficit (high comprehenders, n = 7) showed an N400 effect that was comparable to that of the neurologically unimpaired subjects. In the aphasic patients with a moderate to severe comprehension deficit (low comprehenders, n = 7), a reduction and delay of the N400 effect was obtained. In addition, the P300 component was measured in a classical oddball paradigm, in which subjects were asked to count infrequent low tones in a random series of high and low tones. No correlation was found between the occurrence of N400 and P300 effects, indicating that changes in the N400 results were related to the patients' language deficit. Overall, the pattern of results was compatible with the idea that aphasic patients with moderate to severe comprehension problems are impaired in the integration of lexical information into a higher order representation of the preceding sentence context.

Abstract

Two experiments examined the nature of access, storage, and comprehension of idiomatic phrases. In both studies a Phrase Classification Task was utilized. In this, reaction times to determine whether or not word strings constituted acceptable English phrases were measured. Classification times were significantly faster to idiom than to matched control phrases. This effect held under conditions involving different categories of idioms, different transitional probabilities among words in the phrases, and different levels of awareness of the presence of idioms in the materials. The data support a Lexical Representation Hypothesis for the processing of idioms.

Abstract

Objectives

The aim of this study was to identify sex-specific prevalence and strength of risk factors for the incidence of radiographic knee OA (incRKOA).
Methods

Our study population consisted of 10 958 Rotterdam Study participants free of knee OA in one or both knees at baseline. One thousand and sixty-four participants developed RKOA after a median follow-up time of 9.6 years. We estimated the association between each available risk factor and incRKOA using sex stratified multivariate regression models with generalized estimating equations. Subsequently, we statistically tested sex differences between risk estimates and calculated the population attributable fractions (PAFs) for modifiable risk factors.
Results

The prevalence of the investigated risk factors was, in general, higher in women compared with men, except that alcohol intake and smoking were higher in men and high BMI showed equal prevalence. We found significantly different risk estimates between men and women: high level of physical activity [relative risk (RR) 1.76 (95% CI: 1.29–2.40)] or a Kellgren and Lawrence score 1 at baseline [RR 5.48 (95% CI: 4.51–6.65)] was higher in men. Among borderline significantly different risk estimates was BMI ≥27, associated with higher risk for incRKOA in women [RR 2.00 (95% CI: 1.74–2.31)]. The PAF for higher BMI was 25.6% in women and 19.3% in men.
Conclusion

We found sex-specific differences in both presence and relative risk of several risk factors for incRKOA. Especially BMI, a modifiable risk factor, impacts women more strongly than men. These risk factors can be used in the development of personalized prevention strategies and in building sex-specific prediction tools to identify high risk profile patients.

Abstract

In Polish, it is obligatory to mark feminine or masculine grammatical gender on second-person singular past tense verbs (e.g., Dostałaś list ‘You received-F a letter’). When the addressee’s gender is unknown or unspecified, masculine but never feminine gender marking may be used. The present self-paced reading experiment aims to determine whether this practice creates a processing disadvantage for female addressees in such contexts. We further investigated how men process being addressed with feminine-marked verbs, which constitutes a pragmatic violation. To this end, we presented Polish native speakers with short narratives. Each narrative contained either a second-person singular past tense verb with masculine or feminine gender marking, or a gerund verb with no gender marking as a baseline. We hypothesised that both men and women would read the verbs with gender marking mismatching their own gender more slowly than the gender-unmarked gerund verbs. The results revealed that the gender-mismatching verbs were read equally fast as the gerund verbs, and that the verbs with gender marking matching participant gender were read faster. While the relatively high reading time of the gender-unmarked baseline was unexpected, the pattern of results nevertheless shows that verbs with masculine marking were more difficult to process for women compared to men, and vice versa. In conclusion, even though masculine gender marking in the second person is commonly used with a gender-unspecific intention, it created similar processing difficulties for women as the ones that men experienced when addressed through feminine gender marking. This study is the first one, as far as we are aware, to provide evidence for the male bias of second-person masculine generics during language processing.

Abstract

We investigate the emergence of iconicity, specifically a bouba-kiki effect in miniature artificial languages under different functional constraints: when the languages are reproduced and when they are used communicatively. We ran transmission chains of (a) participant dyads who played an interactive communicative game and (b) individual participants who played a matched learning game. An analysis of the languages over six generations in an iterated learning experiment revealed that in the Communication condition, but not in the Reproduction condition, words for spiky shapes tend to be rated by naive judges as more spiky than the words for round shapes. This suggests that iconicity may not only be the outcome of innovations introduced by individuals, but, crucially, the result of interlocutor negotiation of new communicative conventions. We interpret our results as an illustration of cultural evolution by random mutation and selection (as opposed to by guided variation).

Abstract

This study examined the role of verbal short-term memory (STM) and executive function (EF) underlying semantic and syntactic interference resolution during sentence comprehension for persons with aphasia (PWA) with varying degrees of STM and EF deficits. Semantic interference was manipulated by varying the semantic plausibility of the intervening NP as subject of the verb and syntactic interference was manipulated by varying whether the NP was another subject or an object. Nine PWA were assessed on sentence reading times and on comprehension question performance. PWA showed exaggerated semantic and syntactic interference effects relative to healthy age-matched control subjects. Importantly, correlational analyses showed that while answering comprehension questions, PWA’ semantic STM capacity related to their ability to resolve semantic but not syntactic interference. In contrast, PWA’ EF abilities related to their ability to resolve syntactic but not semantic interference. Phonological STM deficits were not related to the ability to resolve either type of interference. The results for semantic STM are consistent with prior findings indicating a role for semantic but not phonological STM in sentence comprehension, specifically with regard to maintaining semantic information prior to integration. The results for syntactic interference are consistent with the recent findings suggesting that EF is critical for syntactic processing.

Abstract

The murine homologue of the human chloride channel gene, CLCN5, defects in which are responsible for Dent disease, has been cloned and characterized. We isolated the entire coding region of mouse Clcn5 cDNA and approximately 45 kb of genomic sequence embracing the gene. To study its transcriptional control, the 5' upstream sequences of the mouse Clcn5 gene were cloned into a luciferase reporter vector. Deletion analysis of 1.5 kb of the 5' flanking sequence defined an active promoter region within 128 bp of the putative transcription start site, which is associated with a TATA motif but lacks a CAAT consensus. Within this sequence, there is a motif with homology to a purine-rich sequence responsible for the kidney-specific promoter activity of the rat CLC-K1 gene, another member of the chloride-channel gene family expressed in kidney. An enhancer element that confers a 10- to 20-fold increase in the promoter activity of the mouse Clcn5 gene was found within the first intron. The organization of the human CLCN5 and mouse Clcn5 gene structures is highly conserved, and the sequence of the murine protein is 98% similar to that of human, with its highest expression seen in the kidney. This study thus provides the first identification of the transcriptional control region of, and the basis for an understanding of the regulatory mechanism that controls, this kidney-specific, chloride-channel gene.

Abstract

Bats are unique among mammals, possessing some of the rarest mammalian adaptations, including true self-powered flight, laryngeal echolocation, exceptional longevity, unique immunity, contracted genomes, and vocal learning. They provide key ecosystem services, pollinating tropical plants, dispersing seeds, and controlling insect pest populations, thus driving healthy ecosystems. They account for more than 20% of all living mammalian diversity, and their crown-group evolutionary history dates back to the Eocene. Despite their great numbers and diversity, many species are threatened and endangered. Here we announce Bat1K, an initiative to sequence the genomes of all living bat species (n∼1,300) to chromosome-level assembly. The Bat1K genome consortium unites bat biologists (>132 members as of writing), computational scientists, conservation organizations, genome technologists, and any interested individuals committed to a better understanding of the genetic and evolutionary mechanisms that underlie the unique adaptations of bats. Our aim is to catalog the unique genetic diversity present in all living bats to better understand the molecular basis of their unique adaptations; uncover their evolutionary history; link genotype with phenotype; and ultimately better understand, promote, and conserve bats. Here we review the unique adaptations of bats and highlight how chromosome-level genome assemblies can uncover the molecular basis of these traits. We present a novel sequencing and assembly strategy and review the striking societal and scientific benefits that will result from the Bat1K initiative.

Abstract

Sequences of reaction times (RT) produced by participants in an experiment are not only influenced by the stimuli, but by many other factors as well, including fatigue, attention, experience, IQ, handedness, etc. These confounding factors result in longterm effects (such as a participant’s overall reaction capability) and in short- and medium-time fluctuations in RTs (often referred to as ‘local speed effects’). Because stimuli are usually presented in a random sequence different for each participant, local speed effects affect the underlying ‘true’ RTs of specific trials in different ways across participants. To be able to focus statistical analysis on the effects of the cognitive process under study, it is necessary to reduce the effect of confounding factors as much as possible. In this paper we propose and compare techniques and criteria for doing so, with focus on reducing (‘filtering’) the local speed effects. We show that filtering matters substantially for the significance analyses of predictors in linear mixed effect regression models. The performance of filtering is assessed by the average between-participant correlation between filtered RT sequences and by Akaike’s Information Criterion, an important measure of the goodness-of-fit of linear mixed effect regression models.

Abstract

Linguistic phrases are tracked in sentences even though there is no one-to-one acoustic phrase marker in the physical signal. This phenomenon suggests an automatic tracking of abstract linguistic structure that is endogenously generated by the brain. However, all studies investigating linguistic tracking compare conditions where either relevant information at linguistic timescales is available, or where this information is absent altogether (e.g., sentences versus word lists during passive listening). It is therefore unclear whether tracking at phrasal timescales is related to the content of language, or rather, results as a consequence of attending to the timescales that happen to match behaviourally relevant information. To investigate this question, we presented participants with sentences and word lists while recording their brain activity with magnetoencephalography (MEG). Participants performed passive, syllable, word, and word-combination tasks corresponding to attending to four different rates: one they would naturally attend to, syllable-rates, word-rates, and phrasal-rates, respectively. We replicated overall findings of stronger phrasal-rate tracking measured with mutual information for sentences compared to word lists across the classical language network. However, in the inferior frontal gyrus (IFG) we found a task effect suggesting stronger phrasal-rate tracking during the word-combination task independent of the presence of linguistic structure, as well as stronger delta-band connectivity during this task. These results suggest that extracting linguistic information at phrasal rates occurs automatically with or without the presence of an additional task, but also that IFG might be important for temporal integration across various perceptual domains.

Abstract

Sentences contain structure that determines their meaning beyond that of individual words. An influential study by Ding and colleagues (2016) used frequency tagging of phrases and sentences to show that the human brain is sensitive to structure by finding peaks of neural power at the rate at which structures were presented. Since then, there has been a rich debate on how to best explain this pattern of results with profound impact on the language sciences. Models that use hierarchical structure building, as well as models based on associative sequence processing, can predict the neural response, creating an inferential impasse as to which class of models explains the nature of the linguistic computations reflected in the neural readout. In the current manuscript, we discuss pitfalls and common fallacies seen in the conclusions drawn in the literature illustrated by various simulations. We conclude that inferring the neural operations of sentence processing based on these neural data, and any like it, alone, is insufficient. We discuss how to best evaluate models and how to approach the modeling of neural readouts to sentence processing in a manner that remains faithful to cognitive, neural, and linguistic principles.

Abstract

The recent advent of deep learning techniques in speech tech-nology and in particular in automatic speech recognition hasyielded substantial performance improvements. This suggeststhat deep neural networks (DNNs) are able to capture structurein speech data that older methods for acoustic modeling, suchas Gaussian Mixture Models and shallow neural networks failto uncover. In image recognition it is possible to link repre-sentations on the first couple of layers in DNNs to structuralproperties of images, and to representations on early layers inthe visual cortex. This raises the question whether it is possi-ble to accomplish a similar feat with representations on DNNlayers when processing speech input. In this paper we presentthree different experiments in which we attempt to untanglehow DNNs encode speech signals, and to relate these repre-sentations to phonetic knowledge, with the aim to advance con-ventional phonetic concepts and to choose the topology of aDNNs more efficiently. Two experiments investigate represen-tations formed by auto-encoders. A third experiment investi-gates representations on convolutional layers that treat speechspectrograms as if they were images. The results lay the basisfor future experiments with recursive networks.

Abstract

This paper presents electrophysiological data on the on-line processing of open- and closed-class words in patients with Broca’s aphasia with agrammatic comprehension. Event-related brain potentials were recorded from the scalp when Broca patients and nonaphasic control subjects were visually presented with a story in which the words appeared one at a time on the screen. Separate waveforms were computed for open- and closed-class words. The non-aphasic control subjects showed clear differences between the processing of open- and closed-class words in an early (210-375 ms) and a late (400-700 ms) time-window.The early electrophysiological differences reflect the first manifestation of the availability of word-category information from the mental lexicon. The late differences presumably relate to post-lexical semantic and syntactic processing. In contrast to the control subjects, the Broca patients showed no early vocabulary class effect and only a limited late effect. The results suggest that an important factor in the agrammatic comprehension deficit of Broca’s aphasics is a delayed and/or incomplete availability of word-class information.

Abstract

Every day people see, describe, and remember motion events. However, the relation between multimodal encoding of motion events in speech and gesture, and memory is not yet fully understood. Moreover, whether language typology modulates this relation remains to be tested. This study investigates whether the type of motion event information (path or manner) mentioned in speech and gesture predicts which information is remembered and whether this varies across speakers of typologically different languages. Dutch- and Turkish-speakers watched and described motion events and completed a surprise recognition memory task. For both Dutch- and Turkish-speakers, manner memory was at chance level. Participants who mentioned path in speech during encoding were more accurate at detecting changes to the path in the memory task. The relation between mentioning path in speech and path memory did not vary cross-linguistically. Finally, the co-speech gesture did not predict memory above mentioning path in speech. These findings suggest that how speakers describe a motion event in speech is more important than the typology of the speakers’ native language in predicting motion event memory. The motion event videos are available for download for future research at https://osf.io/p8cas/.

Abstract

There is more to brain connections than the mere transfer of signals between brain regions. Behavior and cognition emerge through cortical area interaction. This requires integration between local and distant areas orchestrated by densely connected networks. Brain connections determine the brain’s functional organization. The imaging of connections in the living brain has provided an opportunity to identify the driving factors behind the neurobiology of cognition. Connectivity differences between species and among humans have furthered the understanding of brain evolution and of diverging cognitive profiles. Brain pathologies amplify this variability through disconnections and, consequently, the disintegration of cognitive functions. The prediction of long-term symptoms is now preferentially based on brain disconnections. This paradigm shift will reshape our brain maps and challenge current brain models.

Abstract

We estimate lexical Concreteness for millions of words across 77 languages. Using a simple regression framework, we combine vector-based models of lexical semantics with experimental norms of Concreteness in English and Dutch. By applying techniques to align vector-based semantics across distinct languages, we compute and release Concreteness estimates at scale in numerous languages for which experimental norms are not currently available. This paper lays out the technique and its efficacy. Although this is a difficult dataset to evaluate immediately, Concreteness estimates computed from English correlate with Dutch experimental norms at $\rho$ = .75 in the vocabulary at large, increasing to $\rho$ = .8 among Nouns. Our predictions also recapitulate attested relationships with word frequency. The approach we describe can be readily applied to numerous lexical measures beyond Concreteness

Abstract

Do all languages convey semantic knowledge in the same way? If language simply mirrors the structure of the world, the answer should be a qualified “yes”. If, however, languages impose structure as much as reflecting it, then even ostensibly the “same” word in different languages may mean quite different things. We provide a first pass at a large-scale quantification of cross-linguistic semantic alignment of approximately 1000 meanings in 55 languages. We find that the translation equivalents in some domains (e.g., Time, Quantity, and Kinship) exhibit high alignment across languages while the structure of other domains (e.g., Politics, Food, Emotions, and Animals) exhibits substantial cross-linguistic variability. Our measure of semantic alignment correlates with known phylogenetic distances between languages: more phylogenetically distant languages have less semantic alignment. We also find semantic alignment to correlate with cultural distances between societies speaking the languages, suggesting a rich co-adaptation of language and culture even in domains of experience that appear most constrained by the natural world

Abstract

Establishing non-native phoneme categories can be a notoriously difficult endeavour—in both speech perception and speech production. This study asks how these two domains interact in the course of this learning process. It investigates the effect of perceptual learning and related production practice of a challenging non-native category on the perception and/or production of that category. A four-day perceptual training protocol on the British English /æ/-/ɛ/ vowel contrast was combined with either related or unrelated production practice. After feedback on perceptual categorisation of the contrast, native Dutch participants in the related production group (N = 19) pronounced the trial's correct answer, while participants in the unrelated production group (N = 19) pronounced similar but phonologically unrelated words. Comparison of pre- and post-tests showed significant improvement over the course of training in both perception and production, but no differences between the groups were found. The lack of an effect of production practice is discussed in the light of previous, competing results and models of second-language speech perception and production. This study confirms that, even in the context of related production practice, perceptual training boosts production learning.

Abstract

The way top-down and bottom-up processes interact to shape our perception and behaviour is a fundamental question and remains highly controversial. How early in a processing stream do such interactions occur, and what factors govern such interactions? The degree of abstractness of a perceptual attribute (for example, orientation versus shape in vision, or loudness versus sound identity in hearing) may determine the locus of neural processing and interaction between bottom-up and internal information. Using an imagery-perception repetition paradigm, we find that imagined speech affects subsequent auditory perception, even for a low-level attribute such as loudness. This effect is observed in early auditory responses in magnetoencephalography and electroencephalography that correlate with behavioural loudness ratings. The results suggest that the internal reconstruction of neural representations without external stimulation is flexibly regulated by task demands, and that such top-down processes can interact with bottom-up information at an early perceptual stage to modulate perception.

Abstract

Despite the substantial heritability of antisocial behavior (ASB), specific genetic variants robustly associated with the trait have not been identified. The present study by the Broad Antisocial Behavior Consortium (BroadABC) meta-analyzed data from 28 discovery samples (N = 85,359) and five independent replication samples (N = 8058) with genotypic data and broad measures of ASB. We identified the first significant genetic associations with broad ASB, involving common intronic variants in the forkhead box protein P2 (FOXP2) gene (lead SNP rs12536335, p = 6.32 × 10−10). Furthermore, we observed intronic variation in Foxp2 and one of its targets (Cntnap2) distinguishing a mouse model of pathological aggression (BALB/cJ strain) from controls (BALB/cByJ strain). Polygenic risk score (PRS) analyses in independent samples revealed that the genetic risk for ASB was associated with several antisocial outcomes across the lifespan, including diagnosis of conduct disorder, official criminal convictions, and trajectories of antisocial development. We found substantial genetic correlations of ASB with mental health (depression rg = 0.63, insomnia rg = 0.47), physical health (overweight rg = 0.19, waist-to-hip ratio rg = 0.32), smoking (rg = 0.54), cognitive ability (intelligence rg = −0.40), educational attainment (years of schooling rg = −0.46) and reproductive traits (age at first birth rg = −0.58, father’s age at death rg = −0.54). Our findings provide a starting point toward identifying critical biosocial risk mechanisms for the development of ASB.

Abstract

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

Abstract

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

Abstract

In situated communication, reference to an entity in the shared visual context can be established using eitheranexpression that conveys precise (minimally specified) or redundant (over-specified) information. There is, however, along-lasting debate in psycholinguistics concerningwhether the latter hinders referential processing. We present evidence from an eyetrackingexperiment recordingfixations as well asthe Index of Cognitive Activity –a novel measure of cognitive workload –supporting the view that over-specifications facilitate processing. We further present originalevidence that, above and beyond the effect of specificity,referring expressions thatuniformly reduce referential entropyalso benefitprocessing

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

In human communication, when the speech is disrupted, the visual channel (e.g. manual gestures) can compensate to ensure successful communication. Whether speech also compensates when the visual channel is disrupted is an open question, and one that significantly bears on the status of the gestural modality. We test whether gesture and speech are dynamically co-adapted to meet communicative needs. To this end, we parametrically reduce visibility during casual conversational interaction and measure the effects on speakers' communicative behaviour using motion tracking and manual annotation for kinematic and acoustic analyses. We found that visual signalling effort was flexibly adapted in response to a decrease in visual quality (especially motion energy, gesture rate, size, velocity and hold-time). Interestingly, speech was also affected: speech intensity increased in response to reduced visual quality (particularly in speech-gesture utterances, but independently of kinematics). Our findings highlight that multi-modal communicative behaviours are flexibly adapted at multiple scales of measurement and question the notion that gesture plays an inferior role to speech.

Abstract

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

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

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

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

Abstract

Persons with and without autism process sensory information differently. Differences in sensory processing are directly relevant to social functioning and communicative abilities, which are known to be hampered in persons with autism. We collected functional magnetic resonance imaging (fMRI) data from 25 autistic individuals and 25 neurotypical individuals while they performed a silent gesture recognition task. We exploited brain network topology, a holistic quantification of how networks within the brain are organized to provide new insights into how visual communicative signals are processed in autistic and neurotypical individuals. Performing graph theoretical analysis, we calculated two network properties of the action observation network: local efficiency, as a measure of network segregation, and global efficiency, as a measure of network integration. We found that persons with autism and neurotypical persons differ in how the action observation network is organized. Persons with autism utilize a more clustered, local-processing-oriented network configuration (i.e., higher local efficiency), rather than the more integrative network organization seen in neurotypicals (i.e., higher global efficiency). These results shed new light on the complex interplay between social and sensory processing in autism.

Abstract

When experienced in-person, engagement with art has been associated—in a growing body of evidence—with positive outcomes in wellbeing and mental health. This represents an exciting new field for psychology, curation, and health interventions, suggesting a widely-accessible, cost-effective, and non-pharmaceutical means of regulating factors such as mood or anxiety. However, can similar impacts be found with online presentations? If so, this would open up positive outcomes to an even-wider population—a trend accelerating due to the current COVID-19 pandemic. Despite its promise, this question, and the underlying mechanisms of art interventions and impacts, has largely not been explored. Participants (N = 84) were asked to engage with one of two online exhibitions from Google Arts and Culture (a Monet painting or a similarly-formatted display of Japanese culinary traditions). With just 1–2 min exposure, both improved negative mood, state-anxiety, loneliness, and wellbeing. Stepdown analysis suggested the changes can be explained primarily via negative mood, while improvements in mood correlated with aesthetic appraisals and cognitive-emotional experience of the exhibition. However, no difference was found between exhibitions. We discuss the findings in terms of applications and targets for future research.

Abstract

Machine learning models of visual action recognition are typically trained and tested on data from specific situations where actions are associated with certain objects. It is an open question how action-object associations in the training set influence a model's ability to generalize beyond trained situations. We set out to identify properties of training data that lead to action recognition models with greater generalization ability. To do this, we take inspiration from a cognitive mechanism called cross-situational learning, which states that human learners extract the meaning of concepts by observing instances of the same concept across different situations. We perform controlled experiments with various types of action-object associations, and identify key properties of action-object co-occurrence in training data that lead to better classifiers. Given that these properties are missing in the datasets that are typically used to train action classifiers in the computer vision literature, our work provides useful insights on how we should best construct datasets for efficiently training for better generalization.

Abstract

This study investigated two questions. One is: To what degree is sentence processing beyond single words independent of the input modality (speech vs. reading)? The second question is: Which parts of the network recruited by both modalities is sensitive to syntactic complexity? These questions were investigated by having more than 200 participants read or listen to well-formed sentences or series of unconnected words. A largely left-hemisphere frontotemporoparietal network was found to be supramodal in nature, i.e., independent of input modality. In addition, the left inferior frontal gyrus (LIFG) and the left posterior middle temporal gyrus (LpMTG) were most clearly associated with left-branching complexity. The left anterior temporal lobe (LaTL) showed the greatest sensitivity to sentences that differed in right-branching complexity. Moreover, activity in LIFG and LpMTG increased from sentence onset to end, in parallel with an increase of the left-branching complexity. While LIFG, bilateral anterior temporal lobe, posterior MTG, and left inferior parietal lobe (LIPL) all contribute to the supramodal unification processes, the results suggest that these regions differ in their respective contributions to syntactic complexity related processing. The consequences of these findings for neurobiological models of language processing are discussed.

Abstract

The artificial grammar learning (AGL) paradigm enables systematic investigation of the acquisition of linguistically relevant structures. It is a paradigm of interest for language processing research, interfacing with theoretical linguistics, and for comparative research on language acquisition and evolution. This chapter presents a key for understanding major variants of the paradigm. An unbiased summary of neuroimaging findings of AGL is presented, using meta-analytic methods, pointing to the crucial involvement of the bilateral frontal operculum and regions in the right lateral hemisphere. Against a background of robust posterior temporal cortex involvement in processing complex syntax, the evidence for involvement of the posterior temporal cortex in AGL is reviewed. Infant AGL studies testing for neural substrates are reviewed, covering the acquisition of adjacent and non-adjacent dependencies as well as algebraic rules. The language acquisition data suggest that comparisons of learnability of complex grammars performed with adults may now also be possible with children.

Abstract

Speakers’ visual attention to events is guided by linguistic conceptualization of information in spoken language
production and in language-specific ways. Does production of language-specific co-speech gestures further guide
speakers’ visual attention during message preparation? Here, we examine the link between visual attention and
multimodal event descriptions in Turkish. Turkish is a verb-framed language where speakers’ speech and gesture
show language specificity with path of motion mostly expressed within the main verb accompanied by path
gestures. Turkish-speaking adults viewed motion events while their eye movements were recorded during non-
linguistic (viewing-only) and linguistic (viewing-before-describing) tasks. The relative attention allocated to path
over manner was higher in the linguistic task compared to the non-linguistic task. Furthermore, the relative
attention allocated to path over manner within the linguistic task was higher when speakers (a) encoded path in
the main verb versus outside the verb and (b) used additional path gestures accompanying speech versus not.
Results strongly suggest that speakers’ visual attention is guided by language-specific event encoding not only in
speech but also in gesture. This provides evidence consistent with models that propose integration of speech and
gesture at the conceptualization level of language production and suggests that the links between the eye and the
mouth may be extended to the eye and the hand.

Abstract

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

Abstract

The sperm whale (Physeter macrocephalus) is a deep-diving cetacean with a global distribution and a multi-leveled, culturally segregated, social structure. While sperm whales have previously been described as ‘ocean nomads’, this might not be universal. We conducted surveys of sperm whales along the Lesser Antilles to document the acoustic repertoires, movements and distributions of Eastern Caribbean (EC) sperm whale cultural groups (called vocal clans). In addition to documenting a potential third vocal clan in the EC, we found strong evidence of fine-scale habitat partitioning between vocal clans with scales of horizontal movements an order of magnitude smaller than from comparable studies on Eastern Tropical Pacific sperm whales. These results suggest that sperm whales can display cultural ecological specialization and habitat partitioning on flexible spatial scales according to local conditions and broadens our perception of the ecological flexibility of the species. This study highlights the importance of incorporating multiple temporal and spatial scales to understand the impact of culture on ecological adaptability, as well as the dangers of extrapolating results across geographical areas and cultural groups.

Abstract

The task of automatic playlist continuation is generating a list of recommended tracks that can be added to an existing playlist. By suggesting appropriate tracks, i. e., songs to add to a playlist, a recommender system can increase the user engagement by making playlist creation easier, as well as extending listening beyond the end of current playlist. The ACM Recommender Systems Challenge 2018 focuses on such task. Spotify released a dataset of playlists, which includes a large number of playlists and associated track listings. Given a set of playlists from which a number of tracks have been withheld, the goal is predicting the missing tracks in those playlists. We participated in the challenge as the team Unconscious Bias and, in this paper, we present our approach. We extend adversarial autoencoders to the problem of automatic playlist continuation. We show how multiple input modalities, such as the playlist titles as well as track titles, artists and albums, can be incorporated in the playlist continuation task.

Abstract

We address the problem of recommending relevant items to a user in order to "complete" a partial set of items already known. We consider the two scenarios of citation and subject label recommendation, which resemble different semantics of item co-occurrence: relatedness for co-citations and diversity for subject labels. We assess the influence of the completeness of an already known partial item set on the recommender performance. We also investigate data sparsity through a pruning parameter and the influence of using additional metadata. As recommender models, we focus on different autoencoders, which are particularly suited for reconstructing missing items in a set. We extend autoencoders to exploit a multi-modal input of text and structured data. Our experiments on six real-world datasets show that supplying the partial item set as input is helpful when item co-occurrence resembles relatedness, while metadata are effective when co-occurrence implies diversity. This outcome means that the semantics of item co-occurrence is an important factor. The simple item co-occurrence model is a strong baseline for citation recommendation. However, autoencoders have the advantage to enable exploiting additional metadata besides the partial item set as input and achieve comparable performance. For the subject label recommendation task, the title is the most important attribute. Adding more input modalities sometimes even harms the result. In conclusion, it is crucial to consider the semantics of the item co-occurrence for the choice of an appropriate recommendation model and carefully decide which metadata to exploit.

Abstract

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

Abstract

The actions and feelings questionnaire (AFQ) provides a short, self-report measure of how well someone uses and understands visual communicative signals such as gestures. The objective of this study was to translate and cross-culturally adapt the AFQ into Dutch (AFQ-NL) and validate this new version in neurotypical and autistic populations. Translation and adaptation of the AFQ consisted of forward translation, synthesis, back translation, and expert review. In order to validate the AFQ-NL, we assessed convergent and divergent validity. We additionally assessed internal consistency using Cronbach’s alpha. Validation and reliability outcomes were all satisfactory. The AFQ-NL is a valid adaptation that can be used for both autistic and neurotypical populations in the Netherlands.

Abstract

Recent evidence suggests that visuospatial attentional performance is not stable over time but fluctuates in a rhythmic fashion. These attentional rhythms allow for sampling of different visuospatial locations in each cycle of this rhythm. However, it is still unclear in which paradigmatic circumstances rhythmic attention becomes evident. First, it is unclear at what spatial locations rhythmic attention occurs. Second, it is unclear how the behavioural relevance of each spatial location determines the rhythmic sampling patterns. Here, we aim to elucidate these two issues. Firstly, we aim to find evidence of rhythmic attention at the predicted (i.e. cued) location under moderately informative predictor value, replicating earlier studies. Secondly, we hypothesise that rhythmic attentional sampling behaviour will be affected by the behavioural relevance of the sampled location, ranging from non-informative to fully informative. To these aims, we used a modified Egly-Driver task with three conditions: a fully informative cue, a moderately informative cue (replication condition), and a non-informative cue. We did not find evidence of rhythmic sampling at cued locations, failing to replicate earlier studies. Nor did we find differences in rhythmic sampling under different predictive values of the cue. The current data does not allow for robust conclusions regarding the non-cued locations due to the absence of a priori hypotheses. Post-hoc explorative data analyses, however, clearly indicate that attention samples non-cued locations in a theta-rhythmic manner, specifically when the cued location bears higher behavioural relevance than the non-cued locations.

Abstract

Purpose

Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders as causal when the transmitting parent is clinically unaffected, leaving a significant number of cases with neurodevelopmental disorders undiagnosed.
Methods

We characterized 21 families with inherited heterozygous missense or protein-truncating variants in CHD3, a gene in which de novo variants cause Snijders Blok-Campeau syndrome.
Results

Computational facial and Human Phenotype Ontology–based comparisons showed that the phenotype of probands with inherited CHD3 variants overlaps with the phenotype previously associated with de novo CHD3 variants, whereas heterozygote parents are mildly or not affected, suggesting variable expressivity. In addition, similarly reduced expression levels of CHD3 protein in cells of an affected proband and of healthy family members with a CHD3 protein-truncating variant suggested that compensation of expression from the wild-type allele is unlikely to be an underlying mechanism. Notably, most inherited CHD3 variants were maternally transmitted.
Conclusion

Our results point to a significant role of inherited variation in Snijders Blok-Campeau syndrome, a finding that is critical for correct variant interpretation and genetic counseling and warrants further investigation toward understanding the broader contributions of such variation to the landscape of human disease.

Abstract

Ook al hebben we het niet altijd door, onze zintuigen werken altijd samen. Als je iemand ziet praten, bijvoorbeeld, verwerken je hersenen automatisch tegelijkertijd het geluid van de woorden en de bewegingen van de lippen. Omdat onze zintuigen altijd samenwerken zijn onze hersenen erg gevoelig voor dingen die ‘samenhoren’ en goed bij elkaar passen. In dit hoofdstuk beschrijven we een project onderzoekend leren met als thema ‘Samenwerkende zintuigen’.

Abstract

Abstract Neuroimaging has played an important part in advancing our understanding of the neurobiology of obsessive?compulsive disorder (OCD). At the same time, neuroimaging studies of OCD have had notable limitations, including reliance on relatively small samples. International collaborative efforts to increase statistical power by combining samples from across sites have been bolstered by the ENIGMA consortium; this provides specific technical expertise for conducting multi-site analyses, as well as access to a collaborative community of neuroimaging scientists. In this article, we outline the background to, development of, and initial findings from ENIGMA's OCD working group, which currently consists of 47 samples from 34 institutes in 15 countries on 5 continents, with a total sample of 2,323 OCD patients and 2,325 healthy controls. Initial work has focused on studies of cortical thickness and subcortical volumes, structural connectivity, and brain lateralization in children, adolescents and adults with OCD, also including the study on the commonalities and distinctions across different neurodevelopment disorders. Additional work is ongoing, employing machine learning techniques. Findings to date have contributed to the development of neurobiological models of OCD, have provided an important model of global scientific collaboration, and have had a number of clinical implications. Importantly, our work has shed new light on questions about whether structural and functional alterations found in OCD reflect neurodevelopmental changes, effects of the disease process, or medication impacts. We conclude with a summary of ongoing work by ENIGMA-OCD, and a consideration of future directions for neuroimaging research on OCD within and beyond ENIGMA.