Publications

Abstract

This study investigates the acquisition of post-verbal (temporal) adverbials and post-verbal negation in L2 Dutch. It is based on previous findings for L2 French that post-verbal negation poses less of a problem for L2 learners than post-verbal adverbial placement (Hawkins, Towell, Bazergui, Second Language Research 9: 189-233, 1993; Herschensohn, Minimally raising the verb issue: 325-336, Cascadilla Press, 1998). The current data show that, at first sight, Moroccan and Turkish learners of Dutch also have fewer problems with post-verbal negation than with post-verbal adverbials. However, when a distinction is made between different types of adverbials, it seems that this holds for adverbials of position such as 'today' but not for adverbials of contrast such as 'again'. To account for this difference, it is argued that different types of adverbial occupy different positions in the L2 data for reasons of scope marking. Moreover, the placement of adverbials such as 'again' interacts with the acquisition of finiteness marking (resulting in post-verbal placement), while there is no such interaction between adverbials such as 'today' and finiteness marking.

Abstract

Neurodevelopmental disorders that disturb speech and language are highly heritable. Isolation of the underlying genetic risk factors has been hampered by complexity of the phenotype and potentially large number of contributing genes. One exception is the identification of rare heterozygous mutations of the FOXP2 gene in a monogenic syndrome characterised by impaired sequencing of articulatory gestures, disrupting speech (developmental verbal dyspraxia, DVD), as well as multiple deficits in expressive and receptive language. The protein encoded by FOXP2 belongs to a divergent subgroup of forkhead-box transcription factors, with a distinctive DNA-binding domain and motifs that mediate hetero- and homodimerisation. FOXP1, the most closely related member of this subgroup, can directly interact with FOXP2 and is co-expressed in neural structures relevant to speech and language disorders. Moreover, investigations of songbird orthologues indicate that combinatorial actions of the two proteins may play important roles in vocal learning, leading to the suggestion that human FOXP1 should be considered a strong candidate for involvement in DVD. Thus, in this study, we screened the entire coding region of FOXP1 (exons and flanking intronic sequence) for nucleotide changes in a panel of probands used earlier to detect novel mutations in FOXP2. A non-synonymous coding change was identified in a single proband, yielding a proline-to-alanine change (P215A). However, this was also found in a random control sample. Analyses of non-coding SNP changes did not find any correlation with affection status. We conclude that FOXP1 mutations are unlikely to represent a major cause of DVD.

Abstract

We previously discovered that mutations of the human FOXP2 gene cause a monogenic communication disorder, primarily characterized by difficulties in learning to make coordinated sequences of articulatory gestures that underlie speech. Affected people have deficits in expressive and receptive linguistic processing and display structural and/or functional abnormalities in cortical and subcortical brain regions. FOXP2 provides a unique window into neural processes involved in speech and language. In particular, its role as a transcription factor gene offers powerful functional genomic routes for dissecting critical neurogenetic mechanisms. Here, we employ chromatin immunoprecipitation coupled with promoter microarrays (ChIP-chip) to successfully identify genomic sites that are directly bound by FOXP2 protein in native chromatin of human neuron-like cells. We focus on a subset of downstream targets identified by this approach, showing that altered FOXP2 levels yield significant changes in expression in our cell-based models and that FOXP2 binds in a specific manner to consensus sites within the relevant promoters. Moreover, we demonstrate significant quantitative differences in target expression in embryonic brains of mutant mice, mediated by specific in vivo Foxp2-chromatin interactions. This work represents the first identification and in vivo verification of neural targets regulated by FOXP2. Our data indicate that FOXP2 has dual functionality, acting to either repress or activate gene expression at occupied promoters. The identified targets suggest roles in modulating synaptic plasticity, neurodevelopment, neurotransmission, and axon guidance and represent novel entry points into in vivo pathways that may be disturbed in speech and language disorders.

Abstract

Childhood syndromes disturbing language development are common and display high degrees of heritability. In most cases, the underlying genetic architecture is likely to be complex, involving multiple chromosomal loci and substantial heterogeneity, which makes it difficult to track down the crucial genomic risk factors. Investigation of rare Mendelian phenotypes offers a complementary route for unravelling key neurogenetic pathways. The value of this approach is illustrated by the discovery that heterozygous FOXP2 (where FOX is forkhead box) mutations cause an unusual monogenic disorder, characterized by problems with articulating speech along with deficits in expressive and receptive language. FOXP2 encodes a regulatory protein, belonging to the forkhead box family of transcription factors, known to play important roles in modulating gene expression in development and disease. Functional genetics using human neuronal models suggest that the different FOXP2 isoforms generated by alternative splicing have distinct properties and may act to regulate each other's activity. Such investigations have also analysed the missense and nonsense mutations found in cases of speech and language disorder, showing that they alter intracellular localization, DNA binding and transactivation capacity of the mutated proteins. Moreover, in the brains of mutant mice, aetiological mutations have been found to disrupt the synaptic plasticity of Foxp2-expressing circuitry. Finally, although mutations of FOXP2 itself are rare, the downstream networks which it regulates in the brain appear to be broadly implicated in typical forms of language impairment. Thus, through ongoing identification of regulated targets and interacting co-factors, this gene is providing the first molecular entry points into neural mechanisms that go awry in language-related disorders

Abstract

Previous studies have identified several brain regions that appear to be involved in the acquisition of novel word forms. Standard word-by-word presentation is often used although exposure to a new language normally occurs in a natural, real world situation. In the current experiment we investigated naturalistic language exposure and applied a model-free analysis for hemodynamic-response data. Functional connectivity, temporal correlations between hemodynamic activity of different areas, was assessed during rest before and after presentation of a movie of a weather report in Mandarin Chinese to Dutch participants. We hypothesized that learning of novel words might be associated with stronger functional connectivity of regions that are involved in phonological processing. Participants were divided into two groups, learners and non-learners, based on the scores on a post hoc word recognition task. The learners were able to recognize Chinese target words from the weather report, while the non-learners were not. In the first resting state period, before presentation of the movie, stronger functional connectivity was observed for the learners compared to the non-learners between the left supplementary motor area and the left precentral gyrus as well as the left insula and the left rolandic operculum, regions that are important for phonological rehearsal. After exposure to the weather report, functional connectivity between the left and right supramarginal gyrus was stronger for learners than for non-learners. This is consistent with a role of the left supramarginal gyrus in the storage of phonological forms. These results suggest both pre-existing and learning-induced differences between the two groups.

Abstract

What determines the aesthetic appeal of artworks? Recent work suggests that aesthetic appeal can, to some extent, be predicted from a visual artwork’s image features. Yet a large fraction of variance in aesthetic ratings remains unexplained and may relate to individual preferences. We hypothesized that an artwork’s aesthetic appeal depends strongly on self-relevance. In a first study (N = 33 adults, online replication N = 208), rated aesthetic appeal for real artworks was positively predicted by rated self-relevance. In a second experiment (N = 45 online), we created synthetic, self-relevant artworks using deep neural networks that transferred the style of existing artworks to photographs. Style transfer was applied to self-relevant photographs selected to reflect participant-specific attributes such as autobiographical memories. Self-relevant, synthetic artworks were rated as more aesthetically appealing than matched control images, at a level similar to human-made artworks. Thus, self-relevance is a key determinant of aesthetic appeal, independent of artistic skill and image features.

Abstract

How do we individuate body parts? Here, we investigated the effect of body segmentation between hand and arm in tactile and visual perception. In a first experiment, we showed that two tactile stimuli felt farther away when they were applied across the wrist than when they were applied within a single body part (palm or forearm), indicating a “category boundary effect”. In the following experiments, we excluded two hypotheses, which attributed tactile segmentation to other, nontactile factors. In Experiment 2, we showed that the boundary effect does not arise from motor cues. The effect was reduced during a motor task involving flexion and extension movements of the wrist joint. Action brings body parts together into functional units, instead of pulling them apart. In Experiments 3 and 4, we showed that the effect does not arise from perceptual cues of visual discontinuities. We did not find any segmentation effect for the visual percept of the body in Experiment 3, nor for a neutral shape in Experiment 4. We suggest that the mental representation of the body is structured in categorical body parts delineated by joints, and that this categorical representation modulates tactile spatial perception.

Abstract

Laterality indices (LIs) quantify the left-right asymmetry of brain and behavioural variables and provide a measure that is statistically convenient and seemingly easy to interpret. Substantial variability in how structural and functional asymmetries are recorded, calculated, and reported, however, suggest little agreement on the conditions required for its valid assessment. The present study aimed for consensus on general aspects in this context of laterality research, and more specifically within a particular method or technique (i.e., dichotic listening, visual half-field technique, performance asymmetries, preference bias reports, electrophysiological recording, functional MRI, structural MRI, and functional transcranial Doppler sonography). Experts in laterality research were invited to participate in an online Delphi survey to evaluate consensus and stimulate discussion. In Round 0, 106 experts generated 453 statements on what they considered good practice in their field of expertise. Statements were organised into a 295-statement survey that the experts then were asked, in Round 1, to independently assess for importance and support, which further reduced the survey to 241 statements that were presented again to the experts in Round 2. Based on the Round 2 input, we present a set of critically reviewed key recommendations to record, assess, and report laterality research for various methods.

Abstract

Photoparoxysmal response (PPR) is characterized by abnormal visual sensitivity of the brain to photic stimulation. Frequently associated with idiopathic generalized epilepsies (IGEs), it might be an endophenotype for cortical excitability. Transient receptor potential cation (TRPC) channels are involved in the generation of epileptiform discharges, and TRPC4 constitutes the main TRPC channel in the central nervous system. The present study investigated an association of PPR with sequence variations of the TRPC4 gene. Thirty-five single nucleotide polymorphisms (SNP) within TRPC4 were genotyped in 273 PPR probands and 599 population controls. Association analyses were performed for the broad PPR endophenotype (PPR types I-IV; n = 273), a narrow model of affectedness (PPR types III and IV; n = 214) and PPR associated with IGE (PPR/IGE; n = 106) for each SNP and for corresponding haplotypes. Association was found between the intron 5 SNP rs10507456 and PPR/IGE both for single markers (P = 0.005) and haplotype level (P = 0.01). Three additional SNPs (rs1535775, rs10161932 and rs7338118) within the same haplotype block were associated with PPR/IGE at P < 0.05 (uncorrected) as well as two more markers (rs10507457, rs7329459) located in intron 3. Again, the corresponding haplotype also showed association with PPR/IGE. Results were not significant following correction for multiple comparisons by permutation analysis for single markers and Bonferroni-Holm for haplotypes. No association was found between variants in TRPC4 and other phenotypes. Our results showed a trend toward association of TRPC4 variants and PPR/IGE. Further studies including larger samples of photosensitive probands are required to clarify the relevance of TRPC4 for PPR and IGE.

Abstract

The eyebrows are used as conversational signals in face-to-face spoken interaction (Ekman, 1979). In Sign Language of the Netherlands (NGT), the eyebrows are typically furrowed in content questions, and raised in polar questions (Coerts, 1992). On the other hand, these eyebrow positions are also associated with anger and surprise, respectively, in general human communication (Ekman, 1993). This overlap in the functional load of the eyebrow positions results in a potential conflict for NGT signers when combining these functions simultaneously. In order to investigate the effect of the simultaneous realization of both functions on the eyebrow position we elicited instances of both question types with neutral affect and with various affective states. The data were coded using the Facial Action Coding System (FACS: Ekman, Friesen, & Hager, 2002) for type of brow movement as well as for intensity. FACS allows for the coding of muscle groups, which are termed Action Units (AUs) and which produce facial appearance changes. The results show that linguistic and affective functions of eyebrows may influence each other in NGT. That is, in surprised polar questions and angry content question a phonetic enhancement takes place of raising and furrowing, respectively. In the items with contrasting eyebrow movements, the grammatical and affective AUs are either blended (occur simultaneously) or they are realized sequentially. Interestingly, the absence of eyebrow raising (marked by AU 1+2) in angry polar questions, and the presence of eyebrow furrowing (realized by AU 4) in surprised content questions suggests that in general AU 4 may be phonetically stronger than AU 1 and AU 2, independent of its linguistic or affective function.

Abstract

In a recent series of publications (Traxler et al. J Mem Lang 39:558–592, 1998; Van Gompel et al. J Mem Lang 52:284–307, 2005; see also Van Gompel et al. (In: Kennedy, et al.(eds) Reading as a perceptual process, Oxford, Elsevier pp 621–648, 2000); Van Gompel et al. J Mem Lang 45:225–258, 2001) eye tracking data are reported showing that globally ambiguous (GA) sentences are read faster than locally ambiguous (LA) counterparts. They argue that these data rule out “constraint-based” models where syntactic and conceptual processors operate concurrently and syntactic ambiguity resolution is accomplished by competition. Such models predict the opposite pattern of reading times. However, this argument against competition is valid only in conjunction with two standard assumptions in current constraint-based models of sentence comprehension: (1) that syntactic competitions (e.g., Which is the best attachment site of the incoming constituent?) are pooled together with conceptual competitions (e.g., Which attachment site entails the most plausible meaning?), and (2) that the duration of a competition is a function of the overall (pooled) quality score obtained by each competitor. We argue that it is not necessary to abandon competition as a successful basis for explaining parsing phenomena and that the above-mentioned reading time data can be accounted for by a parallel-interactive model with conceptual and syntactic processors that do not pool their quality scores together. Within the individual linguistic modules, decision-making can very well be competition-based.

Abstract

We present the design, implementation and simulation results of a psycholinguistic model of human syntactic processing that meets major empirical criteria. The parser operates in conjunction with a lexicalist grammar and is driven by syntactic information associated with heads of phrases. The dynamics of the model are based on competition by lateral inhibition ('competitive inhibition'). Input words activate lexical frames (i.e. elementary trees anchored to input words) in the mental lexicon, and a network of candidate 'unification links' is set up between frame nodes. These links represent tentative attachments that are graded rather than all-or-none. Candidate links that, due to grammatical or 'treehood' constraints, are incompatible, compete for inclusion in the final syntactic tree by sending each other inhibitory signals that reduce the competitor's attachment strength. The outcome of these local and simultaneous competitions is controlled by dynamic parameters, in particular by the Entry Activation and the Activation Decay rate of syntactic nodes, and by the Strength and Strength Build-up rate of Unification links. In case of a successful parse, a single syntactic tree is returned that covers the whole input string and consists of lexical frames connected by winning Unification links. Simulations are reported of a significant range of psycholinguistic parsing phenomena in both normal and aphasic speakers of English: (i) various effects of linguistic complexity (single versus double, center versus right-hand self-embeddings of relative clauses; the difference between relative clauses with subject and object extraction; the contrast between a complement clause embedded within a relative clause versus a relative clause embedded within a complement clause); (ii) effects of local and global ambiguity, and of word-class and syntactic ambiguity (including recency and length effects); (iii) certain difficulty-of-reanalysis effects (contrasts between local ambiguities that are easy to resolve versus ones that lead to serious garden-path effects); (iv) effects of agrammatism on parsing performance, in particular the performance of various groups of aphasic patients on several sentence types.

Abstract

We introduce a novel computer implementation of the Unification-Space parser (Vosse & Kempen 2000) in the form of a localist neural network whose dynamics is based on interactive activation and inhibition. The wiring of the network is determined by Performance Grammar (Kempen & Harbusch 2003), a lexicalist formalism with feature unification as binding operation. While the network is processing input word strings incrementally, the evolving shape of parse trees is represented in the form of changing patterns of activation in nodes that code for syntactic properties of words and phrases, and for the grammatical functions they fulfill. The system is capable, at least in a qualitative and rudimentary sense, of simulating several important dynamic aspects of human syntactic parsing, including garden-path phenomena and reanalysis, effects of complexity (various types of clause embeddings), fault-tolerance in case of unification failures and unknown words, and predictive parsing (expectation-based analysis, surprisal effects). English is the target language of the parser described.

Abstract

Artificial grammar learning constitutes a well-established model for the acquisition of grammatical knowledge in a natural setting. Previous neuroimaging studies demonstrated that Broca's area (left BA 44/45) is similarly activated by natural syntactic processing and artificial grammar learning. The current study was conducted to investigate the causal relationship between Broca's area and learning of an artificial grammar by means of transcranial direct current stimulation (tDCS). Thirty-eight healthy subjects participated in a between-subject design, with either anodal tDCS (20 min, 1 mA) or sham stimulation, over Broca's area during the acquisition of an artificial grammar. Performance during the acquisition phase, presented as a working memory task, was comparable between groups. In the subsequent classification task, detecting syntactic violations, and specifically, those where no cues to superficial similarity were available, improved significantly after anodal tDCS, resulting in an overall better performance. A control experiment where 10 subjects received anodal tDCS over an area unrelated to artificial grammar learning further supported the specificity of these effects to Broca's area. We conclude that Broca's area is specifically involved in rule-based knowledge, and here, in an improved ability to detect syntactic violations. The results cannot be explained by better tDCS-induced working memory performance during the acquisition phase. This is the first study that demonstrates that tDCS may facilitate acquisition of grammatical knowledge, a finding of potential interest for rehabilitation of aphasia.

Abstract

Recently, an increasing number of studies have suggested a role for the basal ganglia and related dopamine inputs in procedural learning, specifically when learning occurs through trial-by-trial feedback (Shohamy, Myers, Kalanithi, & Gluck. (2008). Basal ganglia and dopamine contributions to probabilistic category learning. Neuroscience and Biobehavioral Reviews, 32, 219–236). A necessary relationship has however only been demonstrated in patient studies. In the present study, we show for the first time that increasing dopamine levels in the brain improves the gradual acquisition of complex information in healthy participants. We implemented two artificial-grammar-learning tasks, one with and one without performance feedback. Learning was improved after levodopa intake for the feedback-based learning task only, suggesting that dopamine plays a specific role in trial-by-trial feedback-based learning. This provides promising directions for future studies on dopaminergic modulation of cognitive functioning.

Abstract

Next to propositional content, speakers distribute information in their utterances in such a way that listeners can make a distinction between new (focused) and given (non-focused) information. This is referred to as information structure. We measured event-related potentials (ERPs) to explore the role of information structure in semantic processing. Following different questions in wh-question-answer pairs (e.g. What kind of vegetable did Ming buy for cooking today? /Who bought the vegetables for cooking today?), the answer sentences (e.g., Ming bought eggplant/beef to cook today.) contained a critical word, which was either semantically appropriate (eggplant) or inappropriate (beef), and either focus or non-focus. The results showed a full N400 effect only when the critical words were in focus position. In non-focus position a strongly reduced N400 effect was observed, in line with the well-known semantic illusion effect. The results suggest that information structure facilitates semantic processing by devoting more resources to focused information.

Abstract

Does the way a word is written influence its spoken production? Previous studies suggest that orthography is involved only when the orthographic representation is highly relevant during speaking (e.g., in reading-aloud tasks). To address this issue, we carried out two experiments using the blocked cyclic picture-naming paradigm. In both experiments, participants were asked to name pictures repeatedly in orthographically homogeneous or heterogeneous blocks. In the naming task, the written form was not shown; however, the radical of the first character overlapped between the four pictures in this block type. A facilitative orthographic effect was found when picture names shared part of their written forms, compared with the heterogeneous condition. This facilitative effect was independent of the position of orthographic overlap (i.e., the left, the lower, or the outer part of the character). These findings strongly suggest that orthography can influence speaking even when it is not highly relevant (i.e., during picture naming) and the orthographic effect is less likely to be attributed to strategic preparation.

Abstract

Natural, spontaneous speech (and even quite careful speech) often shows extreme reduction in many speech segments, even resulting in apparent deletion of consonants. Where the flap ([(sic)]) allophone of /t/ and /d/ is expected in American English, one frequently sees an approximant-like or even vocalic pattern, rather than a clear flap. Still, the /t/ or /d/ is usually perceived, suggesting the acoustic characteristics of a reduced flap are sufficient for perception of a consonant. This paper identifies several acoustic characteristics of reduced flaps based on previous acoustic research (size of intensity dip, consonant duration, and F4 valley) and presents phonetic identification data for continua that manipulate these acoustic characteristics of reduction. The results indicate that the most obvious types of acoustic variability seen in natural flaps do affect listeners' percept of a consonant, but not sufficiently to completely account for the percept. Listeners are affected by the acoustic characteristics of consonant reduction, but they are also very skilled at evaluating variability along the acoustic dimensions that realize reduction.

Abstract

While listeners are recognizing words from the connected speech stream, they are also parsing information from the intonational contour. This contour may contain cues to word boundaries, particularly if a language has boundary tones that occur at a large proportion of word onsets. We investigate how useful the pitch rise at the beginning of an accentual phrase (APR) would be as a potential word-boundary cue for Japanese listeners. A corpus study shows that it should allow listeners to locate approximately 40–60% of word onsets, while causing less than 1% false positives. We then present a word-spotting study which shows that Japanese listeners can, indeed, use accentual phrase boundary cues during segmentation. This work shows that the prosodic patterns that have been found in the production of Japanese also impact listeners’ processing.

Abstract

This article addresses revitalization of a dormant language whose prospective speakers live in scattered geographical areas. In comparison to increasing the usage of an endangered language, revitalizing a dormant language (one with no living speakers) requires different methods to gain knowledge of the language. Language teaching for a dormant language with a scattered community presents different problems from other teaching situations. In this article, we discuss the types of tasks that must be accomplished for dormant-language revitalization, with particular focus on development of teaching materials. We also address the role of computer technologies, arguing that each use of technology should be evaluated for how effectively it increases fluency. We discuss methods for achieving semi-fluency for the first new speakers of a dormant language, and for spreading the language through the community.

Abstract

An event-related brain potential experiment was carried out to investigate on-line thematic role assignment during sentence–picture matching in patients with Broca's aphasia. Subjects were presented with a picture that was followed by an auditory sentence. The sentence either matched the picture or mismatched the visual information depicted. Sentences differed in complexity, and ranged from simple active semantically irreversible sentences to passive semantically reversible sentences. ERPs were recorded while subjects were engaged in sentence–picture matching. In addition, reaction time and accuracy were measured. Three groups of subjects were tested: Broca patients (N = 10), non-aphasic patients with a right hemisphere (RH) lesion (N = 8), and healthy aged-matched controls (N = 15). The results of this study showed that, in neurologically unimpaired individuals, thematic role assignment in the context of visual information was an immediate process. This in contrast to patients with Broca's aphasia who demonstrated no signs of on-line sensitivity to the picture–sentence mismatches. The syntactic contribution to the thematic role assignment process seemed to be diminished given the reduction and even absence of P600 effects. Nevertheless, Broca patients showed some off-line behavioral sensitivity to the sentence–picture mismatches. The long response latencies of Broca's aphasics make it likely that off-line response strategies were used.

Abstract

A longstanding question in bilingualism is whether syntactic information is shared between the two language processing systems. We used an fMRI repetition suppression paradigm to investigate syntactic priming in reading comprehension in German–English late-acquisition bilinguals. In comparison to conventional subtraction analyses in bilingual experiments, repetition suppression has the advantage of being able to detect neuronal populations that are sensitive to properties that are shared by consecutive stimuli. In this study, we manipulated the syntactic structure between prime and target sentences. A sentence with a passive sentence structure in English was preceded either by a passive or by an active sentence in English or German. We looked for repetition suppression effects in left inferior frontal, left precentral and left middle temporal regions of interest. These regions were defined by a contrast of all non-target sentences in German and English versus the baseline of sentence-format consonant strings. We found decreases in activity (repetition suppression effects) in these regions of interest following the repetition of syntactic structure from the first to the second language and within the second language.
Moreover, a separate behavioural experiment using a word-by-word reading paradigm similar to the fMRI experiment showed faster reading times for primed compared to unprimed English target sentences regardless of whether they were preceded by an English or a German sentence of the same structure.
We conclude that there is interaction between the language processing systems and that at least some syntactic information is shared between a bilingual's languages with similar syntactic structures.

Abstract

Many explanations of the difficulties associated with interpreting object relative clauses appeal to the demands that object relatives make on working memory. MacDonald and Christiansen [MacDonald, M. C., & Christiansen, M. H. (2002). Reassessing working memory: Comment on Just and Carpenter (1992) and Waters and Caplan (1996). Psychological Review, 109, 35-54] pointed to variations in reading experience as a source of differences, arguing that the unique word order of object relatives makes their processing more difficult and more sensitive to the effects of previous experience than the processing of subject relatives. This hypothesis was tested in a large-scale study manipulating reading experiences of adults over several weeks. The group receiving relative clause experience increased reading speeds for object relatives more than for subject relatives, whereas a control experience group did not. The reading time data were compared to performance of a computational model given different amounts of experience. The results support claims for experience-based individual differences and an important role for statistical learning in sentence comprehension processes.

Abstract

Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4 gene. Participants were clinically examined and underwent either target capture sequencing of the exons and some pathogenic intronic regions of ABCA4, sequencing of the entire ABCA4 gene or whole genome sequencing. ABCA4 c.4539 + 2028C > T, p.[= ,Arg1514Leufs*36] is a pathogenic deep intronic variant that results in a retina-specific 345-nucleotide pseudoexon inclusion. Through analysis of the Irish STGD1 cohort, 25 individuals across 18 pedigrees harbour ABCA4 c.4539 + 2028C > T and another pathogenic variant. This includes, to the best of our knowledge, the only two homozygous patients identified to date. This provides important evidence of variant pathogenicity for this deep intronic variant, highlighting the value of homozygotes for variant interpretation. 15 other heterozygous incidents of this variant in patients have been reported globally, indicating significant enrichment in the Irish population. We provide detailed genetic and clinical characterization of these patients, illustrating that ABCA4 c.4539 + 2028C > T is a variant of mild to intermediate severity. These results have important implications for unresolved STGD1 patients globally with approximately 10% of the population in some western countries claiming Irish heritage. This study exemplifies that detection and characterization of founder variants is a diagnostic imperative.

Abstract

Although generally studied in isolation, language and action often co-occur in everyday life. Here we investigated one particular form of simultaneous language and action, namely speech and gestures that speakers use in everyday communication. In a functional magnetic resonance imaging study, we identified the neural networks involved in the integration of semantic information from speech and gestures. Verbal and/or gestural content could be integrated easily or less easily with the content of the preceding part of speech. Premotor areas involved in action observation (Brodmann area [BA] 6) were found to be specifically modulated by action information "mismatching" to a language context. Importantly, an increase in integration load of both verbal and gestural information into prior speech context activated Broca's area and adjacent cortex (BA 45/47). A classical language area, Broca's area, is not only recruited for language-internal processing but also when action observation is integrated with speech. These findings provide direct evidence that action and language processing share a high-level neural integration system.

Abstract

If motor imagery uses neural structures involved in action execution, then the neural correlates of imagining an action should differ between individuals who tend to execute the action differently. Here we report fMRI data showing that motor imagery is influenced by the way people habitually perform motor actions with their particular bodies; that is, motor imagery is ‘body-specific’ (Casasanto, 2009). During mental imagery for complex hand actions, activation of cortical areas involved in motor planning and execution was left-lateralized in right-handers but right-lateralized in left-handers. We conclude that motor imagery involves the generation of an action plan that is grounded in the participant’s motor habits, not just an abstract representation at the level of the action’s goal. People with different patterns of motor experience form correspondingly different neurocognitive representations of imagined actions.

Abstract

According to theories of embodied cognition, understanding a verb like throw involves unconsciously simulating the action of throwing, using areas of the brain that support motor planning. If understanding action words involves mentally simulating one’s own actions, then the neurocognitive representation of word meanings should differ for people with different kinds of bodies, who perform actions in systematically different ways. In a test of the body-specificity hypothesis, we used functional magnetic resonance imaging to compare premotor activity correlated with action verb understanding in right- and left-handers. Righthanders preferentially activated the left premotor cortex during lexical decisions on manual-action verbs (compared with nonmanual-action verbs), whereas left-handers preferentially activated right premotor areas. This finding helps refine theories of embodied semantics, suggesting that implicit mental simulation during language processing is body specific: Right- and lefthanders, who perform actions differently, use correspondingly different areas of the brain for representing action verb meanings.

Abstract

The left-hemisphere dominance for language is a core example of the functional specialization of the cerebral hemispheres. The degree of left-hemisphere dominance for language depends on hand preference: Whereas the majority of right-handers show left-hemispheric language lateralization, this number is reduced in left-handers. Here, we assessed whether handedness analogously has an influence upon lateralization in the visual system. Using functional magnetic resonance imaging, we localized 4 more or less specialized extrastriate areas in left- and right-handers, namely fusiform face area (FFA), extrastriate body area (EBA), fusiform body area (FBA), and human motion area (human middle temporal [hMT]). We found that lateralization of FFA and EBA depends on handedness: These areas were right lateralized in right-handers but not in left-handers. A similar tendency was observed in FBA but not in hMT. We conclude that the relationship between handedness and hemispheric lateralization extends to functionally lateralized parts of visual cortex, indicating a general coupling between cerebral lateralization and handedness. Our findings indicate that hemispheric specialization is not fixed but can vary considerably across individuals even in areas engaged relatively early in the visual system.

Abstract

Although language is an effective vehicle for communication, it is unclear how linguistic and communicative abilities relate to each other. Some researchers have argued that communicative message generation involves perspective taking (mentalizing), and—crucially—that mentalizing depends on language. We employed a verbal communication paradigm to directly test whether the generation of a communicative action relies on mentalizing and whether the cerebral bases of communicative message generation are distinct from parts of cortex sensitive to linguistic variables. We found that dorsomedial prefrontal cortex, a brain area consistently associated with mentalizing, was sensitive to the communicative intent of utterances, irrespective of linguistic difficulty. In contrast, left inferior frontal cortex, an area known to be involved in language, was sensitive to the linguistic demands of utterances, but not to communicative intent. These findings show that communicative and linguistic abilities rely on cerebrally (and computationally) distinct mechanisms

Abstract

Several studies indicate that both posterior superior temporal sulcus/middle temporal gyrus (pSTS/MTG) and left inferior frontal gyrus (LIFG) are involved in integrating information from different modalities. Here we investigated the respective roles of these two areas in integration of action and language information. We exploited the fact that the semantic relationship between language and different forms of action (i.e. co-speech gestures and pantomimes) is radically different. Speech and co-speech gestures are always produced together, and gestures are not unambiguously understood without speech. On the contrary, pantomimes are not necessarily produced together with speech and can be easily understood without speech. We presented speech together with these two types of communicative hand actions in matching or mismatching combinations to manipulate semantic integration load. Left and right pSTS/MTG were only involved in semantic integration of speech and pantomimes. Left IFG on the other hand was involved in integration of speech and co-speech gestures as well as of speech and pantomimes. Effective connectivity analyses showed that depending upon the semantic relationship between language and action, LIFG modulates activation levels in left pSTS.

This suggests that integration in pSTS/MTG involves the matching of two input streams for which there is a relatively stable common object representation, whereas integration in LIFG is better characterized as the on-line construction of a new and unified representation of the input streams. In conclusion, pSTS/MTG and LIFG are differentially involved in multimodal integration, crucially depending upon the semantic relationship between the input streams.

Abstract

Co-speech gestures embody a form of manual action that is tightly coupled to the language system. As such, the co-occurrence of speech and co-speech gestures is an excellent example of the interplay between language and action. There are, however, other ways in which language and action can be thought of as closely related. In this paper we will give an overview of studies in cognitive neuroscience that examine the neural underpinnings of links between language and action. Topics include neurocognitive studies of motor representations of speech sounds, action-related language, sign language and co-speech gestures. It will be concluded that there is strong evidence on the interaction between speech and gestures in the brain. This interaction however shares general properties with other domains in which there is interplay between language and action.

Abstract

It has been argued that we map observed actions onto our own motor system. Here we added to this issue by investigating whether hand preference influences the neural correlates of action observation of simple, essentially meaningless hand actions. Such an influence would argue for an intricate neural coupling between action production and action observation, which goes beyond effects of motor repertoire or explicit motor training, as has been suggested before. Indeed, parts of the human motor system exhibited a close coupling between action production and action observation. Ventral premotor and inferior and superior parietal cortices showed differential activation for left- and right-handers that was similar during action production as well as during action observation. This suggests that mapping observed actions onto the observer's own motor system is a core feature of action observation - at least for actions that do not have a clear goal or meaning. Basic differences in the way we act upon the world are not only reflected in neural correlates of action production, but can also influence the brain basis of action observation.

Abstract

According to embodied theories of language, people understand a verb like throw, at least in part, by mentally simulating throwing. This implicit simulation is often assumed to be similar or identical to motor imagery. Here we used fMRI totest whether implicit simulations of actions during language understanding involve the same cortical motor regions as explicit motor imagery Healthy participants were presented with verbs related to hand actions (e.g., to throw) and nonmanual actions (e.g., to kneel). They either read these verbs (lexical decision task) or actively imagined performing the actions named by the verbs (imagery task). Primary motor cortex showd effector-specific activation during imagery, but not during lexical decision. Parts of premotor cortex distinguished manual from nonmanual actions during both lexical decision and imagery, but there was no overlap or correlation between regions activated during the two tasks. These dissociations suggest that implicit simulation and explicit imagery cued by action verbs may involve different types of motor representations and that the construct of “mental simulation” should be distinguished from “mental imagery” in embodied theories of language.

Abstract

The human capacity to communicate has been hypothesized to be causally dependent upon language. Intuitively this seems plausible since most communication relies on language. Moreover, intention recognition abilities (as a necessary prerequisite for communication) and language development seem to co-develop. Here we review evidence from neuroimaging as well as from neuropsychology to evaluate the relationship between communicative and linguistic abilities. Our review indicates that communicative abilities are best considered as neurally distinct from language abilities. This conclusion is based upon evidence showing that humans rely on different cortical systems when designing a communicative message for someone else as compared to when performing core linguistic tasks, as well as upon observations of individuals with severe language loss after extensive lesions to the language system, who are still able to perform tasks involving intention understanding

Abstract

The modality learning effect, according to Mayer (2001), proposes that learning is enhanced when information is presented in both the visual and auditory domain (e.g., pictures and spoken information), compared to presenting information solely in the visual channel (e.g., pictures and written text). Most of the evidence for this effect comes from adults in a laboratory setting. Therefore, we tested the modality effect with 80 children in the highest grade of elementary school, in a naturalistic setting. In a between-subjects design children either saw representational pictures with speech or representational pictures with text. Retention and transfer knowledge was tested at three moments: immediately after the intervention, one day after, and after one week. The present study did not find any evidence for a modality effect in children when the lesson is learner-paced. Instead, we found a reversed modality effect directly after the intervention for retention. A reversed modality effect was also found for the transfer questions one day later. This effect was robust, even when controlling for individual differences.

Abstract

Languages are among the most complex systems that evolution has created. With an unforeseen speed many of these unique results of evolution are currently disappearing: every two weeks one of the 6500 still spoken languages is dying and many are subject to extreme changes due to globalization. Experts understood the need to document the languages and preserve the cultural and linguistic treasures embedded in them for future generations. Also linguistic theory will need to consider the variation of the linguistic systems encoded in languages to improve our understanding of how human minds process language material, thus accessibility to all types of resources is increasingly crucial. Deeper insights into human language processing and a higher degree of integration and interoperability between resources will also improve our language processing technology. The DOBES programme is focussing on the documentation and preservation of language material. The Max Planck Institute developed the Language Archiving Technology to help researchers when creating, archiving and accessing language resources. The recently started CLARIN research infrastructure has as main goals to achieve a broad visibility and an easy
accessibility of language resources.

Abstract

Brain processing depends on the interactions between neuronal groups. Those interactions are governed by the pattern of anatomical connections and by yet unknown mechanisms that modulate the effective strength of a given connection. We found that the mutual influence among neuronal groups depends on the phase relation between rhythmic activities within the groups. Phase relations supporting interactions between the groups preceded those interactions by a few milliseconds, consistent with a mechanistic role. These effects were specific in time, frequency, and space, and we therefore propose that the pattern of synchronization flexibly determines the pattern of neuronal interactions.

Abstract

We performed a resting-state functional connectivity study to investigate directly the functional correlations within the perisylvian language networks by seeding from 3 subregions of Broca's complex (pars opercularis, pars triangularis, and pars orbitalis) and their right hemisphere homologues. A clear topographical functional connectivity pattern in the left middle frontal, parietal, and temporal areas was revealed for the 3 left seeds. This is the first demonstration that a functional connectivity topology can be observed in the perisylvian language networks. The results support the assumption of the functional division for phonology, syntax, and semantics of Broca's complex as proposed by the memory, unification, and control (MUC) model and indicated a topographical functional organization in the perisylvian language networks, which suggests a possible division of labor for phonological, syntactic, and semantic function in the left frontal, parietal, and temporal areas.

Abstract

In face-to-face communication, multimodal cues such as prosody, gestures, and mouth movements can play a crucial role in language processing. While several studies have addressed how these cues contribute to native (L1) language processing, their impact on non-native (L2) comprehension is largely unknown. Comprehension of naturalistic language by L2 comprehenders may be supported by the presence of (at least some) multimodal cues, as these provide correlated and convergent information that may aid linguistic processing. However, it is also the case that multimodal cues may be less used by L2 comprehenders because linguistic processing is more demanding than for L1 comprehenders, leaving more limited resources for the processing of multimodal cues. In this study, we investigated how L2 comprehenders use multimodal cues in naturalistic stimuli (while participants watched videos of a speaker), as measured by electrophysiological responses (N400) to words, and whether there are differences between L1 and L2 comprehenders. We found that prosody, gestures, and informative mouth movements each reduced the N400 in L2, indexing easier comprehension. Nevertheless, L2 participants showed weaker effects for each cue compared to L1 comprehenders, with the exception of meaningful gestures and informative mouth movements. These results show that L2 comprehenders focus on specific multimodal cues – meaningful gestures that support meaningful interpretation and mouth movements that enhance the acoustic signal – while using multimodal cues to a lesser extent than L1 comprehenders overall.

Abstract

Background: Developmental language disorder (DLD) is a condition that significantly affects children's achievement but has been understudied. We aim to estimate the prevalence of DLD in Shanghai, compare the co-occurrence of difficulties between children with DLD and those with typical development (TD), and investigate the early risk factors for DLD.

Methods: We estimated DLD prevalence using data from a population-based survey with a cluster random sampling design in Shanghai, China. A subsample of children (aged 5-6 years) received an onsite evaluation, and each child was categorized as TD or DLD. The proportions of children with socio-emotional behavior (SEB) difficulties, low non-verbal IQ (NVIQ), and poor school readiness were calculated among children with TD and DLD. We used multiple imputation to address the missing values of risk factors. Univariate and multivariate regression models adjusted with sampling weights were used to estimate the correlation of each risk factor with DLD.

Findings: Of 1082 children who were approached for the onsite evaluation, 974 (90.0%) completed the language ability assessments, of whom 74 met the criteria for DLD, resulting in a prevalence of 8.5% (95% CI 6.3-11.5) when adjusted with sampling weights. Compared with TD children, children with DLD had higher rates of concurrent difficulties, including SEB (total difficulties score at-risk: 156 [17.3%] of 900 TD vs. 28 [37.8%] of 74 DLD, p < 0.0001), low NVIQ (3 [0.3%] of 900 TD vs. 8 [10.8%] of 74 DLD, p < 0.0001), and poor school readiness (71 [7.9%] of 900 TD vs. 13 [17.6%] of 74 DLD, p = 0.0040). After accounting for all other risk factors, a higher risk of DLD was associated with a lack of parent-child interaction diversity (adjusted odds ratio [aOR] = 3.08, 95% CI = 1.29-7.37; p = 0.012) and lower kindergarten levels (compared to demonstration and first level: third level (aOR = 6.15, 95% CI = 1.92-19.63; p = 0.0020)).

Interpretation: The prevalence of DLD and its co-occurrence with other difficulties suggest the need for further attention. Family and kindergarten factors were found to contribute to DLD, suggesting that multi-sector coordinated efforts are needed to better identify and serve DLD populations at home, in schools, and in clinical settings.

Funding: The study was supported by Shanghai Municipal Education Commission (No. 2022you1-2, D1502), the Innovative Research Team of High-level Local Universities in Shanghai (No. SHSMU-ZDCX20211900), Shanghai Municipal Health Commission (No.GWV-10.1-XK07), and the National Key Research and Development Program of China (No. 2022YFC2705201).

Abstract

Celiac disease (CD) is an intolerance to dietary proteins of wheat, barley, and rye. CD may have substantial morbidity, yet it is quite common with a prevalence of 1%-2% in Western populations. It is not clear why the CD phenotype is so prevalent despite its negative effects on human health, especially because appropriate treatment in the form of a gluten-free diet has only been available since the 1950s, when dietary gluten was discovered to be the triggering factor. The high prevalence of CD might suggest that genes underlying this disease may have been favored by the process of natural selection. We assessed signatures of selection for ten confirmed CD-associated loci in several genome-wide data sets, comprising 8154 controls from four European populations and 195 individuals from a North African population, by studying haplotype lengths via the integrated haplotype score (iHS) method. Consistent signs of positive selection for CD-associated derived alleles were observed in three loci: IL12A, IL18RAP, and SH2B3. For the SH2B3 risk allele, we also show a difference in allele frequency distribution (F(st)) between HapMap phase II populations. Functional investigation of the effect of the SH2B3 genotype in response to lipopolysaccharide and muramyl dipeptide revealed that carriers of the SH2B3 rs3184504*A risk allele showed stronger activation of the NOD2 recognition pathway. This suggests that SH2B3 plays a role in protection against bacteria infection, and it provides a possible explanation for the selective sweep on SH2B3, which occurred sometime between 1200 and 1700 years ago.

Abstract

Genome-wide association studies using thousands to hundreds of thousands of single nucleotide polymorphism (SNP) markers and region-wide association studies using a dense panel of SNPs are already in use to identify disease susceptibility genes and to predict disease risk in individuals. Because these tasks become increasingly important, three different data sets were provided for the Genetic Analysis Workshop 15, thus allowing examination of various novel and existing data mining methods for both classification and identification of disease susceptibility genes, gene by gene or gene by environment interaction. The approach most often applied in this presentation group was random forests because of its simplicity, elegance, and robustness. It was used for prediction and for screening for interesting SNPs in a first step. The logistic tree with unbiased selection approach appeared to be an interesting alternative to efficiently select interesting SNPs. Machine learning, specifically ensemble methods, might be useful as pre-screening tools for large-scale association studies because they can be less prone to overfitting, can be less computer processor time intensive, can easily include pair-wise and higher-order interactions compared with standard statistical approaches and can also have a high capability for classification. However, improved implementations that are able to deal with hundreds of thousands of SNPs at a time are required.

Abstract

Brain oscillations are prevalent in all species and are involved in numerous perceptual operations. α oscillations are thought to facilitate processing through the inhibition of task-irrelevant networks, while β oscillations are linked to the putative reactivation of content representations. Can the proposed functional role of α and β oscillations be generalized from low-level operations to higher-level cognitive processes? Here we address this question focusing on naturalistic spoken language comprehension. Twenty-two (18 female) Dutch native speakers listened to stories in Dutch and French while MEG was recorded. We used dependency parsing to identify three dependency states at each word: the number of (1) newly opened dependencies, (2) dependencies that remained open, and (3) resolved dependencies. We then constructed forward models to predict α and β power from the dependency features. Results showed that dependency features predict α and β power in language-related regions beyond low-level linguistic features. Left temporal, fundamental language regions are involved in language comprehension in α, while frontal and parietal, higher-order language regions, and motor regions are involved in β. Critically, α- and β-band dynamics seem to subserve language comprehension tapping into syntactic structure building and semantic composition by providing low-level mechanistic operations for inhibition and reactivation processes. Because of the temporal similarity of the α-β responses, their potential functional dissociation remains to be elucidated. Overall, this study sheds light on the role of α and β oscillations during naturalistic spoken language comprehension, providing evidence for the generalizability of these dynamics from perceptual to complex linguistic processes.

Abstract

Research into the neural foundation of perception asserts a model where top-down predictions modulate the bottom-up processing of sensory input. Despite becoming increasingly influential in cognitive neuroscience, the precise account of this predictive coding framework remains debated. In this study, we aim to contribute to this debate by investigating how predictions about prosody facilitate speech perception, and to shed light especially on lexical access influenced by simultaneous predictions in different domains, inter alia, prosodic and semantic. Using a passive auditory oddball paradigm, we examined neural responses to prosodic changes, leading to a semantic change as in Dutch nouns canon [ˈkaːnɔn] ‘cannon’ vs kanon [kaːˈnɔn] ‘canon’, and used acoustically identical pseudowords as controls. Results from twenty-eight native speakers of Dutch (age range 18–32 years) indicated an enhanced P50/N100 complex to prosodic change in pseudowords as well as an MMN response to both words and pseudowords. The enhanced P50/N100 response to pseudowords is claimed to indicate that all relevant auditory information is still processed by the brain, whereas the reduced response to words might reflect the suppression of information that has already been encoded. The MMN response to pseudowords and words, on the other hand, is best justified by the unification of previously established prosodic representations with sensory and semantic input respectively. This pattern of results is in line with the predictive coding framework acting on multiple levels and is of crucial importance to indicate that predictions about linguistic prosodic information are utilized by the brain as early as 50 ms.

Abstract

Language is used in communicative contexts to identify and successfully transmit new information that should be later remembered. In three studies, we used question–answer pairs, a naturalistic device for focusing information, to examine how properties of conversations inform later item memory. In Experiment 1, participants viewed three pictures while listening to a recorded question–answer exchange between two people about the locations of two of the displayed pictures. In a memory recognition test conducted online a day later, participants recognized the names of pictures that served as answers more accurately than the names of pictures that appeared as questions. This suggests that this type of focus indeed boosts memory. In Experiment 2, participants listened to the same items embedded in declarative sentences. There was a reduced memory benefit for the second item, confirming the role of linguistic focus on later memory beyond a simple serial-position effect. In Experiment 3, two participants asked and answered the same questions about objects in a dialogue. Here, answers continued to receive a memory benefit, and this focus effect was accentuated by language production such that information-seekers remembered the answers to their questions better than information-givers remembered the questions they had been asked. Combined, these studies show how people’s memory for conversation is modulated by the referential status of the items mentioned and by the speaker’s roles of the conversation participants.

Abstract

The Corpus NGT

Abstract

Sign language lexicography has thus far been a relatively obscure area in the world of lexicography. Therefore, this article will contain background information on signed languages and the communities in which they are used, on the lexicography of sign languages, the situation in the Netherlands as well as a review of a sign language dictionary that has recently been published in the Netherlands.