Publications

Abstract

Diversity of vocabulary knowledge and quantity of language exposure prior to literacy are key predictors of reading development. However, diversity and quantity of exposure are difficult to distinguish in behavioural studies, and so the causal relations with literacy are not well known. We tested these relations by training a connectionist triangle model of reading that learned to map between semantic; phonological; and, later, orthographic forms of words. The model first learned to map between phonology and semantics, where we manipulated the quantity and diversity of this preliterate language experience. Then the model learned to read. Both diversity and quantity of exposure had unique effects on reading performance, with larger effects for written word comprehension than for reading fluency. The results further showed that quantity of preliteracy language exposure was beneficial only when this was to a varied vocabulary and could be an impediment when exposed to a limited vocabulary.

Abstract

Tense/aspect morphology on verbs is often thought to depend on event features like telicity, but it is not known how speakers identify these features in visual scenes. To examine this question, we asked Japanese speakers to describe computer-generated animations of simple actions with variation in visual features related to telicity. Experiments with adults and children found that they could use goal information in the animations to select appropriate past and progressive verb forms. They also produced a large number of different verb forms. To explain these findings, a deep-learning model of verb production from visual input was created that could produce a human-like distribution of verb forms. It was able to use visual cues to select appropriate tense/aspect morphology. The model predicted that video duration would be related to verb complexity, and past tense production would increase when it received the endpoint as input. These predictions were confirmed in a third study with Japanese adults. This work suggests that verb production could be tightly linked to visual heuristics that support the understanding of events.

Abstract

This study examines the perception of paralinguistic intonational meanings deriving from Ohala’s Frequency Code (Experiment 1) and Gussenhoven’s Effort Code (Experiment 2) in British English and Dutch. Native speakers of British English and Dutch listened to a number of stimuli in their native language and judged each stimulus on four semantic scales deriving from these two codes: SELF-CONFIDENT versus NOT SELF-CONFIDENT, FRIENDLY versus NOT FRIENDLY (Frequency Code); SURPRISED versus NOT SURPRISED, and EMPHATIC versus NOT EMPHATIC (Effort Code). The stimuli, which were lexically equivalent across the two languages, differed in pitch contour, pitch register and pitch span in Experiment 1, and in pitch register, peak height, peak alignment and end pitch in Experiment 2. Contrary to the traditional view that the paralinguistic usage of intonation is similar across languages, it was found that British English and Dutch listeners differed considerably in the perception of “confident,” “friendly,” “emphatic,” and “surprised.” The present findings support a theory of paralinguistic meaning based on the universality of biological codes, which however acknowledges a languagespecific component in the implementation of these codes.

Abstract

The current study investigated how the role of pitch in one’s native language and L2 experience influenced musical melodic processing by testing Turkish and Mandarin Chinese advanced and beginning learners of English as an L2. Pitch has a lower functional load and shows a simpler pattern in Turkish than in Chinese as the former only contrasts between presence and the absence of pitch elevation, while the latter makes use of four different pitch contours lexically. Using the Musical Ear Test as the tool, we found that the Chinese listeners outperformed the Turkish listeners, and the advanced L2 learners outperformed the beginning learners. The Turkish listeners were further tested on their discrimination of bisyllabic Chinese lexical tones, and again an L2 advantage was observed. No significant difference was found for working memory between the beginning and advanced L2 learners. These results suggest that richness of tonal inventory of the native language is essential for triggering a music processing advantage, and on top of the tone language advantage, the L2 experience yields a further enhancement. Yet, unlike the tone language advantage that seems to relate to pitch expertise, learning an L2 seems to improve sound discrimination in general, and such improvement exhibits in non-native lexical tone discrimination.

Abstract

The goal of this study is to examine how the degree of vowel-to-vowel coarticulation varies as a function of prosodic factors such as nuclear-pitch accent (accented vs. unaccented), level of prosodic boundary (Prosodic Word vs. Intermediate Phrase vs. Intonational Phrase), and position-in-prosodic-domain (initial vs. final). It is hypothesized that vowels in prosodically stronger locations (e.g., in accented syllables and at a higher prosodic boundary) are not only coarticulated less with their neighboring vowels, but they also exert a stronger influence on their neighbors. Measurements of tongue position for English /a i/ over time were obtained with Carsten’s electromagnetic articulography. Results showed that vowels in prosodically stronger locations are coarticulated less with neighboring vowels, but do not exert a stronger influence on the articulation of neighboring vowels. An examination of the relationship between coarticulation and duration revealed that (a) accent-induced coarticulatory variation cannot be attributed to a duration factor and (b) some of the data with respect to boundary effects may be accounted for by the duration factor. This suggests that to the extent that prosodically conditioned coarticulatory variation is duration-independent, there is no absolute causal relationship from duration to coarticulation. It is proposed that prosodically conditioned V-to-V coarticulatory reduction is another type of strengthening that occurs in prosodically strong locations. The prosodically driven coarticulatory patterning is taken to be part of the phonetic signatures of the hierarchically nested structure of prosody.

Abstract

This study investigates young children’s comprehension of spatial terms in two languages that categorize space strikingly differently. English makes a distinction between actions resulting in containment (put in) versus support or surface attachment (put on), while Korean makes a cross-cutting distinction between tight-fit relations (kkita) versus loose-fit or other contact relations (various verbs). In particular, the Korean verb kkita refers to actions resulting in a tight-fit relation regardless of containment or support. In a preferential looking study we assessed the comprehension of in by 20 English learners and kkita by 10 Korean learners, all between 18 and 23 months. The children viewed pairs of scenes while listening to sentences with and without the target word. The target word led children to gaze at different and language-appropriate aspects of the scenes. We conclude that children are sensitive to language-specific spatial categories by 18–23 months.

Abstract

English and Korean differ in how they lexicalize the components of motionevents. English characteristically conflates Motion with Manner, Cause, or Deixis, and expresses Path separately. Korean, in contrast, conflates Motion with Path and elements of Figure and Ground in transitive clauses for caused Motion, but conflates motion with Deixis and spells out Path and Manner separately in intransitive clauses for spontaneous motion. Children learningEnglish and Korean show sensitivity to language-specific patterns in the way they talk about motion from as early as 17–20 months. For example, learners of English quickly generalize their earliest spatial words — Path particles like up, down, and in — to both spontaneous and caused changes of location and, for up and down, to posture changes, while learners of Korean keep words for spontaneous and caused motion strictly separate and use different words for vertical changes of location and posture changes. These findings challenge the widespread view that children initially map spatial words directly to nonlinguistic spatial concepts, and suggest that they are influenced by the semantic organization of their language virtually from the beginning. We discuss how input and cognition may interact in the early phases of learning to talk about space.

Abstract

Models of speech production assume that syllables play a functional role in the process of word-form encoding in speech production. In this study, we investigate this claim and specifically provide evidence about the level at which syllables come into play. We report two studies using an odd-man-out variant of the implicit priming paradigm to examine the role of the syllable during the process of word formation. Our results show that this modified version of the implicit priming paradigm can trace the emergence of syllabic structure during spoken word generation. Comparing these results to prior syllable priming studies, we conclude that syllables emerge at the interface between phonological and phonetic encoding. The results are discussed in terms of the WEAVER++ model of lexical access.

Abstract

Koriat (1981) demonstrated that an association from the target to a preceding prime, in the absence of an association from the prime to the target, facilitates lexical decision and referred to this effect as "backward priming". Backward priming is of relevance, because it can provide information about the mechanism underlying semantic priming effects. Following Neely (1991), we distinguish three mechanisms of priming: spreading activation, expectancy, and semantic matching/integration. The goal was to determine which of these mechanisms causes backward priming, by assessing effects of backward priming on a language-relevant ERP component, the N400, and reaction time (RT). Based on previous work, we propose that the N400 priming effect reflects expectancy and semantic matching/integration, but in contrast with RT does not reflect spreading activation. Experiment 1 shows a backward priming effect that is qualitatively similar for the N400 and RT in a lexical decision task. This effect was not modulated by an ISI manipulation. Experiment 2 clarifies that the N400 backward priming effect reflects genuine changes in N400 amplitude and cannot be ascribed to other factors. We will argue that these backward priming effects cannot be due to expectancy but are best accounted for in terms of semantic matching/integration.

Abstract

In a semantic priming paradigm, the effects of different levels of processing on the N400 were assessed by changing the task demands. In the lexical decision task, subjects had to discriminate between words and nonwords and in the physical task, subjects had to discriminate between uppercase and lowercase letters. The proportion of related versus unrelated word pairs differed between conditions. A lexicality test on reaction times demonstrated that the physical task was performed nonlexically. Moreover, a semantic priming reaction time effect was obtained only in the lexical decision task. The level of processing clearly affected the event-related potentials. An N400 priming effect was only observed in the lexical decision task. In contrast, in the physical task a P300 effect was observed for either related or unrelated targets, depending on their frequency of occurrence. Taken together, the results indicate that an N400 priming effect is only evoked when the task performance induces the semantic aspects of words to become part of an episodic trace of the stimulus event.

Abstract

The authors investigate how morphological relationships between inflected word forms are represented in the mental lexicon, focusing on paradigmatic relations between regularly inflected word forms and relationships between different stem forms of the same lexeme. We present results from a series of psycholinguistic experiments investigating German adjectives (which are inflected for case, number, and gender) and the so-called strong verbs of German, which have different stem forms when inflected for person, number, tense, or mood. Evidence from three lexical-decision experiments indicates that regular affixes are stripped off from their stems for processing purposes. It will be shown that this holds for both unmarked and marked stem forms. Another set of experiments revealed priming effects between different paradigmatically related affixes and between different stem forms of the same lexeme. We will show that associative models of inflection do not capture these findings, and we explain our results in terms of combinatorial models of inflection in which regular affixes are represented in inflectional paradigms and stem variants are represented in structured lexical entries. We will also argue that the morphosyntactic features of stems and affixes form abstract underspecified entries. The experimental results indicate that the human language processor makes use of these representations.

Abstract

Clashen proposes two distinct processing routes, for regularly and irregularly inflected forms, respectively, and thus is apparently making a psychological claim. We argue his position, which embodies a strictly linguistic perspective, does not constitute a psychological processing model.

Abstract

Background. Facial emotion recognition deficits are common after moderate-severe traumatic brain injury (TBI) and linked to poor social outcomes. We examine whether emotion recognition deficits extend to facial expressions depicted by emoji.
Methods. Fifty-one individuals with moderate-severe TBI (25 female) and fifty-one neurotypical peers (26 female) viewed photos of human faces and emoji. Participants selected the best-fitting label from a set of basic emotions (anger, disgust, fear, sadness, neutral, surprise, happy) or social emotions (embarrassed, remorseful, anxious, neutral, flirting, confident, proud).
Results. We analyzed the likelihood of correctly labeling an emotion by group (neurotypical, TBI), stimulus condition (basic faces, basic emoji, social emoji), sex (female, male), and their interactions. Participants with TBI did not significantly differ from neurotypical peers in overall emotion labeling accuracy. Both groups had poorer labeling accuracy for emoji compared to faces. Participants with TBI (but not neurotypical peers) had poorer accuracy for labeling social emotions depicted by emoji compared to basic emotions depicted by emoji. There were no effects of participant sex.
Discussion. Because emotion representation is more ambiguous in emoji than human faces, studying emoji use and perception in TBI is an important consideration for understanding functional communication and social participation after brain injury.

Abstract

Purpose

Real-world communication is situated in rich multimodal contexts, containing speech and gesture. Speakers often convey unique information in gesture that is not present in the speech signal (e.g., saying “He searched for a new recipe” while making a typing gesture). We examine the narrative retellings of participants with and without moderate-severe traumatic brain injury across three timepoints over two online Zoom sessions to investigate whether people with TBI can integrate information from co-occurring speech and gesture and if information from gesture persists across delays.

Methods

60 participants with TBI and 60 non-injured peers watched videos of a narrator telling four short stories. On key details, the narrator produced complementary gestures that conveyed unique information. Participants retold the stories at three timepoints: immediately after, 20-min later, and one-week later. We examined the words participants used when retelling these key details, coding them as a Speech Match (e.g., “He searched for a new recipe”), a Gesture Match (e.g., “He searched for a new recipe online), or Other (“He looked for a new recipe”). We also examined whether participants produced representative gestures themselves when retelling these details.

Results

Despite recalling fewer story details, participants with TBI were as likely as non-injured peers to report information from gesture in their narrative retellings. All participants were more likely to report information from gesture and produce representative gestures themselves one-week later compared to immediately after hearing the story.

Conclusion

We demonstrated that speech-gesture integration is intact after TBI in narrative retellings. This finding has exciting implications for the utility of gesture to support comprehension and memory after TBI and expands our understanding of naturalistic multimodal language processing in this population.

Abstract

Impaired facial affect recognition is common after traumatic brain injury (TBI) and linked to poor social outcomes. We explored whether perception of emotions depicted by emoji is also impaired after TBI. Fifty participants with TBI and 50 non-injured peers generated free-text labels to describe emotions depicted by emoji and rated their levels of valence and arousal on nine-point rating scales. We compared how the two groups’ valence and arousal ratings were clustered and examined agreement in the words participants used to describe emoji. Hierarchical clustering of affect ratings produced four emoji clusters in the non-injured group and three emoji clusters in the TBI group. Whereas the non-injured group had a strongly positive and a moderately positive cluster, the TBI group had a single positive valence cluster, undifferentiated by arousal. Despite differences in cluster numbers, hierarchical structures of the two groups’ emoji ratings were significantly correlated. Most emoji had high agreement in the words participants with and without TBI used to describe them. Participants with TBI perceived emoji similarly to non-injured peers, used similar words to describe emoji, and rated emoji similarly on the valence dimension. Individuals with TBI showed small differences in perceived arousal for a minority of emoji. Overall, results suggest that basic recognition processes do not explain challenges in computer-mediated communication reported by adults with TBI. Examining perception of emoji in context by people with TBI is an essential next step for advancing our understanding of functional communication in computer-mediated contexts after brain injury.

Abstract

Interactive effects between allelic variants of the serotonin transporter (5-HTT) promoter-linked polymorphic region (5-HTTLPR) and stressors on depression symptoms have been documented, as well as questioned, by meta-analyses. Translational models of constitutive 5-htt reduction and experimentally controlled stressors often led to inconsistent behavioral and molecular findings and often did not include females. The present study sought to investigate the effect of 5-htt genotype, maternal separation, and sex on the expression of stress-related candidate genes in the rat hippocampus and frontal cortex. The mRNA expression levels of Avp, Pomc, Crh, Crhbp, Crhr1, Bdnf, Ntrk2, Maoa, Maob, and Comt were assessed in the hippocampus and frontal cortex of 5-htt ± and 5-htt +/+ male and female adult rats exposed, or not, to daily maternal separation for 180 min during the first 2 postnatal weeks. Gene- and brain region-dependent, but sex-independent, interactions between 5-htt genotype and maternal separation were found. Gene expression levels were higher in 5-htt +/+ rats not exposed to maternal separation compared with the other experimental groups. Maternal separation and 5-htt +/− genotype did not yield additive effects on gene expression. Correlative relationships, mainly positive, were observed within, but not across, brain regions in all groups except in non-maternally separated 5-htt +/+ rats. Gene expression patterns in the hippocampus and frontal cortex of rats exposed to maternal separation resembled the ones observed in rats with reduced 5-htt expression regardless of sex. These results suggest that floor effects of 5-htt reduction and maternal separation might explain inconsistent findings in humans and rodents

Abstract

Previous electroencephalography studies have yielded evidence for automatic processing of syntax and lexical stress. However, these studies looked at both effects in isolation, limiting their generalizability to everyday language comprehension. In the current study, we investigated automatic processing of grammatical agreement in the face of variation in lexical stress. Using an oddball paradigm, we measured the Mismatch Negativity (MMN) in Dutch-speaking participants while they listened to Dutch subject–verb sequences (linguistic context) or acoustically similar sequences in which the subject was replaced by filtered noise (nonlinguistic context). The verb forms differed in the inflectional suffix, rendering the subject–verb sequences grammatically correct or incorrect, and leading to a difference in the stress pattern of the verb forms. We found that the MMNs were modulated in both the linguistic and nonlinguistic condition, suggesting that the processing load induced by variation in lexical stress can hinder early automatic processing of grammatical agreement. However, as the morphological differences between the verb forms correlated with differences in number of syllables, an interpretation in terms of the prosodic structure of the sequences cannot be ruled out. Future research is needed to determine which of these factors (i.e., lexical stress, syllabic structure) most strongly modulate early syntactic processing.

Abstract

Since the cognitive revolution, language and action have been compared as cognitive systems, with cross-domain convergent views recently gaining renewed interest in biology, neuroscience, and cognitive science. Language and action are both combinatorial systems whose mode of combination has been argued to be hierarchical, combining elements into constituents of increasingly larger size. This structural similarity has led to the suggestion that they rely on shared cognitive and neural resources. In this article, we compare the conceptual and formal properties of hierarchy in language and action using set theory. We show that the strong compositionality of language requires a particular formalism, a magma, to describe the algebraic structure corresponding to the set of hierarchical structures underlying sentences. When this formalism is applied to actions, it appears to be both too strong and too weak. To overcome these limitations, which are related to the weak compositionality and sequential nature of action structures, we formalize the algebraic structure corresponding to the set of actions as a trace monoid. We aim to capture the different system properties of language and action in terms of the distinction between hierarchical sets and hierarchical sequences and discuss the implications for the way both systems could be represented in the brain.

Abstract

Comprehenders predict what a speaker is likely to say when listening to non-native (L2) and native (L1) utterances. But what are the characteristics of L2 prediction, and how does it relate to L1 prediction? We addressed this question in a visual-world eye-tracking experiment, which tested when L2 English comprehenders integrated perspective into their predictions. Male and female participants listened to male and female speakers producing sentences (e.g., I would like to wear the nice…) about stereotypically masculine (target: tie; distractor: drill) and feminine (target: dress; distractor: hairdryer) objects. Participants predicted associatively, fixating objects semantically associated with critical verbs (here, the tie and the dress). They also predicted stereotypically consistent objects (e.g., the tie rather than the dress, given the male speaker). Consistent predictions were made later than associative predictions, and were delayed for L2 speakers relative to L1 speakers. These findings suggest prediction involves both automatic and non-automatic stages.

Abstract

Research suggests that during conversation, interlocutors coordinate their utterances by predicting the speaker’s forthcoming utterance and its end. In two experiments, we used a button-pressing task, in which participants pressed a button when they thought a speaker reached the end of their utterance, to investigate what role the wider discourse plays in turn-end prediction. Participants heard two-utterance sequences, in which the content of the second utterance was or was not constrained by the content of the first. In both experiments, participants responded earlier, but not more precisely, when the first utterance was constraining rather than unconstraining. Response times and precision were unaffected by whether they listened to dialogues or monologues (Experiment 1) and by whether they read the first utterance out loud or silently (Experiment 2), providing no indication that activation of production mechanisms facilitates prediction. We suggest that content predictions aid comprehension but not turn-end prediction.

Abstract

Word frequency plays a key role in theories of lexical access, which assume that the word frequency effect (WFE, faster access to high-frequency than low-frequency words) occurs as a result of differences in the representation and processing of the words. In a seminal paper, Jescheniak and Levelt (1994) proposed that the WFE arises during the retrieval of word forms, rather than the retrieval of their syntactic representations (their lemmas) or articulatory commands. An important part of Jescheniak and Levelt's argument was that they found a stable WFE in a picture naming task, which requires complete lexical access, but not in a gender decision task, which only requires access to the words' lemmas and not their word forms. We report two attempts to replicate this pattern, one with new materials, and one with Jescheniak and Levelt's orginal pictures. In both studies we found a strong WFE when the pictures were shown for the first time, but much weaker effects on their second and third presentation. Importantly these patterns were seen in both the picture naming and the gender decision tasks, suggesting that either word frequency does not exclusively affect word form retrieval, or that the gender decision task does not exclusively tap lemma access.

Abstract

Although previous research has demonstrated that language comprehension can be egocentric, there is little evidence for egocentricity during prediction. In particular, comprehenders do not appear to predict egocentrically when the context makes it clear what the speaker is likely to refer to. But do comprehenders predict egocentrically when the context does not make it clear? We tested this hypothesis using a visual-world eye-tracking paradigm, in which participants heard sentences containing the gender-neutral pronoun They (e.g. They would like to wear…) while viewing four objects (e.g. tie, dress, drill, hairdryer). Two of these objects were plausible targets of the verb (tie and dress), and one was stereotypically compatible with the participant's gender (tie if the participant was male; dress if the participant was female). Participants rapidly fixated targets more than distractors, but there was no evidence that participants ever predicted egocentrically, fixating objects stereotypically compatible with their own gender. These findings suggest that participants do not fall back on their own egocentric perspective when predicting, even when they know that context does not make it clear what the speaker is likely to refer to.

Abstract

The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further light on the missing heritability of ABCA4-associated retinopathy by analyzing a large cohort of macular dystrophy probands. A total of 858 probands were collected from 26 centers, of whom 722 carried no or one pathogenic ABCA4 variant while 136 cases carried two ABCA4 alleles, one of which was a frequent mild variant, suggesting that deep-intronic variants (DIVs) or other cis-modifiers might have been missed. After single molecule molecular inversion probes (smMIPs)-based sequencing of the complete 128-kb ABCA4 locus, the effect of putative splice variants was assessed in vitro by midigene splice assays in HEK293T cells. The breakpoints of copy number variants (CNVs) were determined by junction PCR and Sanger sequencing. ABCA4 sequence analysis solved 207/520 (39.8%) naïve or unsolved cases and 70/202 (34.7%) monoallelic cases, while additional causal variants were identified in 54/136 (39.7%) of probands carrying two variants. Seven novel DIVs and six novel non-canonical splice site variants were detected in a total of 35 alleles and characterized, including the c.6283-321C>G variant leading to a complex splicing defect. Additionally, four novel CNVs were identified and characterized in five alleles. These results confirm that smMIPs-based sequencing of the complete ABCA4 gene provides a cost-effective method to genetically solve retinopathy cases and that several rare structural and splice altering defects remain undiscovered in STGD1 cases.

Abstract

In three experiments, listeners detected vowel or consonant targets in lists of CV syllables constructed from five vowels and five consonants. Responses were faster in a predictable context (e.g., listening for a vowel target in a list of syllables all beginning with the same consonant) than in an unpredictable context (e.g., listening for a vowel target in a list of syllables beginning with different consonants). In Experiment 1, the listeners’ native language was Dutch, in which vowel and consonant repertoires are similar in size. The difference between predictable and unpredictable contexts was comparable for vowel and consonant targets. In Experiments 2 and 3, the listeners’ native language was Spanish, which has four times as many consonants as vowels; here effects of an unpredictable consonant context on vowel detection were significantly greater than effects of an unpredictable vowel context on consonant detection. This finding suggests that listeners’ processing of phonemes takes into account the constitution of their language’s phonemic repertoire and the implications that this has for contextual variability.

Abstract

The extent to which languages share properties reflecting the non-linguistic constraints of the speakers who speak them is key to the debate regarding the relationship between language and cognition. A critical case is spatial communication, where it has been argued that semantic universals should exist, if anywhere. Here, using an experimental paradigm able to separate variation within a language from variation between languages, we tested the use of spatial demonstratives—the most fundamental and frequent spatial terms across languages. In n = 874 speakers across 29 languages, we show that speakers of all tested languages use spatial demonstratives as a function of being able to reach or act on an object being referred to. In some languages, the position of the addressee is also relevant in selecting between demonstrative forms. Commonalities and differences across languages in spatial communication can be understood in terms of universal constraints on action shaping spatial language and cognition.

Abstract

When speaking to infants, adults often produce speech that differs systematically from that directed to other adults. In order to quantify the acoustic properties of this speech style across a wide variety of languages and cultures, we extracted results from empirical studies on the acoustic features of infant-directed speech (IDS). We analyzed data from 88 unique studies (734 effect sizes) on the following five acoustic parameters that have been systematically examined in the literature: i) fundamental frequency (fo), ii) fo variability, iii) vowel space area, iv) articulation rate, and v) vowel duration. Moderator analyses were conducted in hierarchical Bayesian robust regression models in order to examine how these features change with infant age and differ across languages, experimental tasks and recording environments. The moderator analyses indicated that fo, articulation rate, and vowel duration became more similar to adult-directed speech (ADS) over time, whereas fo variability and vowel space area exhibited stability throughout development. These results point the way for future research to disentangle different accounts of the functions and learnability of IDS by conducting theory-driven comparisons among different languages and using computational models to formulate testable predictions.

Abstract

When we imagine objects or events, we often engage in multisensory mental imagery. Yet, investigations of mental imagery have typically focused on only one sensory modality — vision. One reason for this is that the most common tool for the measurement of imagery, the questionnaire, has been restricted to unimodal ratings of the object. We present a new mental imagery questionnaire that measures multisensory imagery. Specifically, the newly developed Vividness of Wine Imagery Questionnaire (VWIQ) measures mental imagery of wine in the visual, olfactory, and gustatory modalities. Wine is an ideal domain to explore multisensory imagery because wine drinking is a multisensory experience, it involves the neglected chemical senses (smell and taste), and provides the opportunity to explore the effect of experience and expertise on imagery (from wine novices to experts). The VWIQ questionnaire showed high internal consistency and reliability, and correlated with other validated measures of imagery. Overall, the VWIQ may serve as a useful tool to explore mental imagery for researchers, as well as individuals in the wine industry during sommelier training and evaluation of wine professionals.

Abstract

We report associations between vowel sounds, graphemes, and colours collected online from over 1000 Dutch speakers. We provide open materials including a Python implementation of the structure measure, and code for a single page web application to run simple cross-modal tasks. We also provide a full dataset of colour-vowel associations from 1164 participants, including over 200 synaesthetes identified using consistency measures. Our analysis reveals salient patterns in cross-modal associations, and introduces a novel measure of isomorphism in cross-modal mappings. We find that while acoustic features of vowels significantly predict certain mappings (replicating prior work), both vowel phoneme category and grapheme category are even better predictors of colour choice. Phoneme category is the best predictor of colour choice overall, pointing to the importance of phonological representations in addition to acoustic cues. Generally, high/front vowels are lighter, more green, and more yellow than low/back vowels. Synaesthetes respond more strongly on some dimensions, choosing lighter and more yellow colours for high and mid front vowels than non-synaesthetes. We also present a novel measure of cross-modal mappings adapted from ecology, which uses a simulated distribution of mappings to measure the extent to which participants' actual mappings are structured isomorphically across modalities. Synaesthetes have mappings that tend to be more structured than non-synaesthetes, and more consistent colour choices across trials correlate with higher structure scores. Nevertheless, the large majority (~70%) of participants produce structured mappings, indicating that the capacity to make isomorphically structured mappings across distinct modalities is shared to a large extent, even if the exact nature of mappings varies across individuals. Overall, this novel structure measure suggests a distribution of structured cross-modal association in the population, with synaesthetes on one extreme and participants with unstructured associations on the other.

Abstract

Native American English and non-native(Dutch)listeners identified either the consonant or the vowel in all possible American English CV and VC syllables. The syllables were embedded in multispeaker babble at three signal-to-noise ratios(0, 8, and 16 dB). The phoneme identification
performance of the non-native listeners was less accurate than that of the native listeners. All listeners were adversely affected by noise. With these isolated syllables, initial segments were harder to identify than final segments. Crucially, the effects of language background and noise did not interact; the performance asymmetry between the native and non-native groups was not significantly different across signal-to-noise ratios. It is concluded that the frequently reported disproportionate difficulty of non-native listening under disadvantageous conditions is not due to a disproportionate increase in phoneme misidentifications.

Abstract

Because stress can occur in any position within an Eglish word, lexical prosody could serve as a minimal distinguishing feature between pairs of words. However, most pairs of English words with stress pattern opposition also differ vocalically: OBject an obJECT, CONtent and content have different vowels in their first syllables an well as different stress patters. To test whether prosodic information is made use in auditory word recognition independently of segmental phonetic information, it is necessary to examine pairs like FORbear – forBEAR of TRUSty – trusTEE, semantically unrelated words which echbit stress pattern opposition but no segmental difference. In a cross-modal priming task, such words produce the priming effects characteristic of homophones, indicating that lexical prosody is not used in the same was as segmental structure to constrain lexical access.

Abstract

Two bodies of recent research from experimental psycholinguistics are summarised, each of which is centred upon a concept from phonology: LEXICAL STRESS and the SYLLABLE. The evidence indicates that neither construct plays a role in prelexical representations during speech recog- nition. Both constructs, however, are well supported by other performance evidence. Testing phonological claims against performance evidence from psycholinguistics can be difficult, since the results of studies designed to test processing models are often of limited relevance to phonological theory.

Abstract

Four studies are reported in which young children’s response time to detect word targets was measured. Children under about six years of age did not show response time advantage for accented target words which adult listeners show. When semantic focus of the target word was manipulated independently of accent, children of about five years of age showed an adult-like response time advantage for focussed targets, but children younger than five did not. Id is argued that the processing advantage for accented words reflect the semantic role of accent as an expression of sentence focus. Processing advantages for accented words depend on the prior development of representations of sentence semantic structure, including the concept of focus. The previous literature on the development of prosodic competence shows an apparent anomaly in that young children’s productive skills appear to outstrip their receptive skills; however, this anomaly disappears if very young children’s prosody is assumed to be produced without an underlying representation of the relationship between prosody and semantics.

Abstract

Language production and comprehension are intimately interrelated; and models of production and comprehension should, we argue, be constrained by common architectural guidelines. Levelt et al.'s target article adopts as guiding principle Ockham's razor: the best model of production is the simplest one. We recommend adoption of the same principle in comprehension, with consequent simplification of some well-known types of models.

Abstract

Three experiments addressed the question of whether pitch-accent information may be exploited in the process of recognizing spoken words in Tokyo Japanese. In a two-choice classification task, listeners judged from which of two words, differing in accentual structure, isolated syllables had been extracted ~e.g., ka from baka HL or gaka LH!; most judgments were correct, and listeners’ decisions were correlated with the fundamental frequency characteristics of the syllables. In a gating experiment, listeners heard initial fragments of words and guessed what the words were; their guesses overwhelmingly had the same initial accent structure as the gated word even when only the beginning CV of the stimulus ~e.g., na- from nagasa HLL or nagashi LHH! was presented. In addition, listeners were more confident in guesses with the same initial accent structure as the stimulus than in guesses with different accent. In a lexical decision experiment, responses to spoken words ~e.g., ame HL! were speeded by previous presentation of the same word ~e.g., ame HL! but not by previous presentation of a word differing only in accent ~e.g., ame LH!. Together these findings provide strong evidence that accentual information constrains the activation and selection of candidates for spoken-word recognition.

Abstract

Speech segmentation procedures may differ in speakers of different languages. Earlier work based on French speakers listening to French words suggested that the syllable functions as a segmentation unit in speech processing. However, while French has relatively regular and clearly bounded syllables, other languages, such as English, do not. No trace of syllabifying segmentation was found in English listeners listening to English words, French words, or nonsense words. French listeners, however, showed evidence of syllabification even when they were listening to English words. We conclude that alternative segmentation routines are available to the human language processor. In some cases speech segmentation may involve the operation of more than one procedure

Abstract

Four experiments examined Dutch listeners’ use of suprasegmental information in spoken-word recognition. Isolated syllables excised from minimal stress pairs such as VOORnaam/voorNAAM could be reliably assigned to their source words. In lexical decision, no priming was observed from one member of minimal stress pairs to the other, suggesting that the pairs’ segmental ambiguity was removed by suprasegmental information.Words embedded in nonsense strings were harder to detect if the nonsense string itself formed the beginning of a competing word, but a suprasegmental mismatch to the competing word significantly reduced this inhibition. The same nonsense strings facilitated recognition of the longer words of which they constituted the beginning, butagain the facilitation was significantly reduced by suprasegmental mismatch. Together these results indicate that Dutch listeners effectively exploit suprasegmental cues in recognizing spoken words. Nonetheless, suprasegmental mismatch appears to be somewhat less effective in constraining activation than segmental mismatch.

Abstract

One of a listener's major tasks in understanding continuous speech is segmenting the speech signal into separate words. When listening conditions are difficult, speakers can help listeners by deliberately speaking more clearly. In four experiments, we examined how word boundaries are produced in deliberately clear speech. In an earlier report we showed that speakers do indeed mark word boundaries in clear speech, by pausing at the boundary and lengthening pre-boundary syllables; moreover, these effects are applied particularly to boundaries preceding weak syllables. In English, listeners use segmentation procedures which make word boundaries before strong syllables easier to perceive; thus marking word boundaries before weak syllables in clear speech will make clear precisely those boundaries which are otherwise hard to perceive. The present report presents supplementary data, namely prosodic analyses of the syllable following a critical word boundary. More lengthening and greater increases in intensity were applied in clear speech to weak syllables than to strong. Mean F0 was also increased to a greater extent on weak syllables than on strong. Pitch movement, however, increased to a greater extent on strong syllables than on weak. The effects were, however, very small in comparison to the durational effects we observed earlier for syllables preceding the boundary and for pauses at the boundary.

Abstract

The authors used 2 “visual-world” eye-tracking experiments to examine lexical access using Dutch constructions in which the verb did or did not place semantic constraints on its subsequent subject noun phrase. In Experiment 1, fixations to the picture of a cohort competitor (overlapping with the onset of the referent’s name, the subject) did not differ from fixations to a distractor in the constraining-verb condition. In Experiment 2, cross-splicing introduced phonetic information that temporarily biased the input toward the cohort competitor. Fixations to the cohort competitor temporarily increased in both the neutral and constraining conditions. These results favor models in which mapping from the input onto meaning is continuous over models in which contextual effects follow access of an initial form-based competitor set.

Abstract

Two experiments investigated whether lexical retrieval for speaking can be characterized as a competitive process by assessing the effects of semantic context on picture and word naming in German. In Experiment 1 we demonstrated that pictures are named slower in the context of same-category items than in the context of items from various semantic categories, replicating findings by Kroll and Stewart (Journal of Memory and Language, 33 (1994) 149). In Experiment 2 we used words instead of pictures. Participants either named the words in the context of same- or different-category items, or produced the words together with their corresponding determiner. While in the former condition words were named faster in the context of samecategory items than of different-category items, the opposite pattern was obtained for the latter condition. These findings confirm the claim that the interfering effect of semantic context reflects competition in the retrieval of lexical entries in speaking.

Abstract

This paper argues that inter-individual and inter-group variation in language acquisition, perception, processing and production, rooted in our biology, may play a largely neglected role in sound change. We begin by discussing the patterning of these differences, highlighting those related to vocal tract anatomy with a foundation in genetics and development. We use our ArtiVarK database, a large multi-ethnic sample comprising 3D intraoral optical scans, as well as structural, static and real-time MRI scans of vocal tract anatomy and speech articulation, to quantify the articulatory strategies used to produce the North American English /r/ and to statistically show that anatomical factors seem to influence these articulatory strategies. Building on work showing that these alternative articulatory strategies may have indirect coarticulatory effects, we propose two models for how biases due to variation in vocal tract anatomy may affect sound change. The first involves direct overt acoustic effects of such biases that are then reinterpreted by the hearers, while the second is based on indirect coarticulatory phenomena generated by acoustically covert biases that produce overt “at-a-distance” acoustic effects. This view implies that speaker communities might be “poised” for change because they always contain pools of “standing variation” of such biased speakers, and when factors such as the frequency of the biased speakers in the community, their positions in the communicative network or the topology of the network itself change, sound change may rapidly follow as a self-reinforcing network-level phenomenon, akin to a phase transition. Thus, inter-speaker variation in structured and dynamic communicative networks may couple the initiation and actuation of sound change.

Abstract

Linguistic diversity is affected by multiple factors, but it is usually assumed that variation in the anatomy of our speech organs
plays no explanatory role. Here we use realistic computer models of the human speech organs to test whether inter-individual
and inter-group variation in the shape of the hard palate (the bony roof of the mouth) affects acoustics of speech sounds. Based
on 107 midsagittal MRI scans of the hard palate of human participants, we modelled with high accuracy the articulation of a set
of five cross-linguistically representative vowels by agents learning to produce speech sounds. We found that different hard
palate shapes result in subtle differences in the acoustics and articulatory strategies of the produced vowels, and that these
individual-level speech idiosyncrasies are amplified by the repeated transmission of language across generations. Therefore,
we suggest that, besides culture and environment, quantitative biological variation can be amplified, also influencing language.

Abstract

This paper presents the first part of a guide for documenting and describing child language, child-directed language and socialization patterns in diverse languages and cultures. The guide is intended for anyone interested in working across child language and language documentation,
including, for example, field linguists and language documenters, community language workers, child language researchers or graduate students. We assume some basic familiarity with language documentation principles and methods, and, based on this, provide step-by-step suggestions for
collecting, analyzing and presenting child data. This first part of the guide focuses on constructing a sketch corpus that consists of minimally five hours of annotated and archived data and which documents communicative practices of children between the ages of 2 and 4.

Abstract

This paper presents the second part of a guide for documenting and describing child language, child-directed language and socialization patterns in diverse languages and cultures. The guide is intended for anyone interested in working across child language and language documentation,
including, for example, field linguists and language documenters, community language workers, child language researchers or graduate students. We assume some basic familiarity with language documentation principles and methods, and, based on this, provide step-by-step suggestions for
collecting, analyzing and presenting child data. This second part of the guide focuses on developing a child language acquisition sketch. It takes the sketch corpus as its basis (which was introduced in the first part of this guide), and presents a model for analyzing and describing the corpus data.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robustly associated with ADHD. We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD. Associations are enriched in evolutionarily constrained genomic regions and loss-of-function intolerant genes and around brain-expressed regulatory marks. Analyses of three replication studies: a cohort of individuals diagnosed with ADHD, a self-reported ADHD sample and a meta-analysis of quantitative measures of ADHD symptoms in the population, support these findings while highlighting study-specific differences on genetic overlap with educational attainment. Strong concordance with GWAS of quantitative population measures of ADHD symptoms supports that clinical diagnosis of ADHD is an extreme expression of continuous heritable traits.

Abstract

Humans readily engage in idle chat and heated discussions and negotiate tough joint decisions without ever having to think twice about how to keep the conversation grounded in mutual understanding. However, current attempts at identifying and assessing the conversational devices that make this possible are fragmented across disciplines and investigate single devices within single contexts. We present a comprehensive conceptual framework to investigate conversational devices, their relations, and how they adjust to contextual demands. In two corpus studies, we systematically test the role of three conversational devices: backchannels, repair, and linguistic entrainment. Contrasting affiliative and task-oriented conversations within participants, we find that conversational devices adaptively adjust to the increased need for precision in the latter: We show that low-precision devices such as backchannels are more frequent in affiliative conversations, whereas more costly but higher-precision mechanisms, such as specific repairs, are more frequent in task-oriented conversations. Further, task-oriented conversations involve higher complementarity of contributions in terms of the content and perspective: lower semantic entrainment and less frequent (but richer) lexical and syntactic entrainment. Finally, we show that the observed variations in the use of conversational devices are potentially adaptive: pairs of interlocutors that show stronger linguistic complementarity perform better across the two tasks. By combining motivated comparisons of several conversational contexts and theoretically informed computational analyses of empirical data the present work lays the foundations for a comprehensive conceptual framework for understanding the use of conversational devices in dialogue.

Abstract

Establishing and maintaining mutual understanding in everyday conversations is crucial. To do so, people employ a variety of conversational devices, such as backchannels, repair, and linguistic entrainment. Here, we explore whether the use of conversational devices might be influenced by cross-linguistic differences in the speakers’ native language, comparing two matched languages—Danish and Norwegian—differing primarily in their sound structure, with Danish being more opaque, that is, less acoustically distinguished. Across systematically manipulated conversational contexts, we find that processes supporting mutual understanding in conversations vary with external constraints: across different contexts and, crucially, across languages. In accord with our predictions, linguistic entrainment was overall higher in Danish than in Norwegian, while backchannels and repairs presented a more nuanced pattern. These findings are compatible with the hypothesis that native speakers of Danish may compensate for its opaque sound structure by adopting a top-down strategy of building more conversational redundancy through entrainment, which also might reduce the need for repairs. These results suggest that linguistic differences might be met by systematic changes in language processing and use. This paves the way for further cross-linguistic investigations and critical assessment of the interplay between cultural and linguistic factors on the one hand and conversational dynamics on the other.

Abstract

This paper investigates the fractional order behavior of ZnO ceramics at different frequencies. ZnO ceramic was prepared by high energy ball milling technique (HEBM) sintered at 1300℃ to study the frequency response properties. The frequency response properties (impedance and phase
angles) were examined by analyzing through impedance analyzer (100 Hz - 1 MHz). Constant phase angles (84°-88°) were obtained at low temperature ranges (25 ℃-125 ℃). The structural and
morphological composition of the ZnO ceramic was investigated using X-ray diffraction techniques and FESEM. Raman spectrum was studied to understand the different modes of ZnO ceramics. Machine learning (polynomial regression) models were trained on a dataset of 1280
experimental values to accurately predict the relationship between frequency and temperature with respect to impedance and phase values of the ZnO ceramic FOC. The predicted impedance values were found to be in good agreement (R2 ~ 0.98, MSE ~ 0.0711) with the experimental results.
Impedance values were also predicted beyond the experimental frequency range (at 50 Hz and 2 MHz) for different temperatures (25℃ - 500℃) and for low temperatures (10°, 15° and 20℃)
within the frequency range (100Hz - 1MHz).

Abstract

Several molecular and phenotypic algorithms exist that establish genotype–phenotype correlations, including facial recognition tools. However, no unified framework that investigates both facial data and other phenotypic data directly from individuals exists. We developed PhenoScore: an open-source, artificial intelligence-based phenomics framework, combining facial recognition technology with Human Phenotype Ontology data analysis to quantify phenotypic similarity. Here we show PhenoScore’s ability to recognize distinct phenotypic entities by establishing recognizable phenotypes for 37 of 40 investigated syndromes against clinical features observed in individuals with other neurodevelopmental disorders and show it is an improvement on existing approaches. PhenoScore provides predictions for individuals with variants of unknown significance and enables sophisticated genotype–phenotype studies by testing hypotheses on possible phenotypic (sub)groups. PhenoScore confirmed previously known phenotypic subgroups caused by variants in the same gene for SATB1, SETBP1 and DEAF1 and provides objective clinical evidence for two distinct ADNP-related phenotypes, already established functionally.

Abstract

A fundamental fact about human minds is that they are never truly alone: all minds are steeped in situated interaction. That social interaction matters is recognised by any experimentalist who seeks to exclude its influence by studying individuals in isolation. On this view, interaction complicates cognition. Here we explore the more radical stance that interaction co-constitutes cognition: that we benefit from looking beyond single minds towards cognition as a process involving interacting minds. All around the cognitive sciences, there are approaches that put interaction centre stage. Their diverse and pluralistic origins may obscure the fact that collectively, they harbour insights and methods that can respecify foundational assumptions and fuel novel interdisciplinary work. What might the cognitive sciences gain from stronger interactional foundations? This represents, we believe, one of the key questions for the future. Writing as a multidisciplinary collective assembled from across the classic cognitive science hexagon and beyond, we highlight the opportunity for a figure-ground reversal that puts interaction at the heart of cognition. The interactive stance is a way of seeing that deserves to be a key part of the conceptual toolkit of cognitive scientists.

Abstract

A syntactic and a semantic task were per-formed by German-speaking healthy subjects and apha-sics with lesions in the dominant left hemisphere. In both
tasks, pictures of objects were presented that had to be classified by pressing buttons. The classification was into grammatical gender in the syntactic task (masculine or feminine gender?) and into semantic category in the se-
mantic task (man- or nature made?). Behavioral data revealed a significant Group by Task interaction, with
aphasics showing most pronounced problems with syn-
tax. Brain event-related potentials 300–600 ms following picture onset showed different task-dependent laterality
patterns in the two groups. In controls, the syntax task
induced a left-lateralized negative ERP, whereas the semantic task produced more symmetric responses over the hemispheres. The opposite was the case in the patients, where, paradoxically, stronger laterality of physio-logical brain responses emerged in the semantic task than in the syntactic task. We interpret these data based on neuro-psycholinguistic models of word processing and current theories about the roles of the hemispheres in language recovery.

Abstract

Artificial neural networks (ANNs) inspired by biology are beginning to be widely used to model behavioural and neural data, an approach we call ‘neuroconnectionism’. ANNs have been not only lauded as the current best models of information processing in the brain but also criticized for failing to account for basic cognitive functions. In this Perspective article, we propose that arguing about the successes and failures of a restricted set of current ANNs is the wrong approach to assess the promise of neuroconnectionism for brain science. Instead, we take inspiration from the philosophy of science, and in particular from Lakatos, who showed that the core of a scientific research programme is often not directly falsifiable but should be assessed by its capacity to generate novel insights. Following this view, we present neuroconnectionism as a general research programme centred around ANNs as a computational language for expressing falsifiable theories about brain computation. We describe the core of the programme, the underlying computational framework and its tools for testing specific neuroscientific hypotheses and deriving novel understanding. Taking a longitudinal view, we review past and present neuroconnectionist projects and their responses to challenges and argue that the research programme is highly progressive, generating new and otherwise unreachable insights into the workings of the brain.

Abstract

Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndrome-1” (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We report 22 novel patients harboring mono- (n = 2) and bi-allelic (n = 20) CNTNAP2 variants and carried out a literature review to characterize the genotype–phenotype correlation. Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). Seizures mainly started in the first two years of life (median 22.5 months). Antiseizure medications were successful in controlling the seizures in about two-thirds of the patients. Autism spectrum disorder (ASD) and/or other neuropsychiatric comorbidities were present in nine patients (40.9%). Nonspecific midline brain anomalies were noted in most patients while focal signal abnormalities in the temporal lobes were noted in three subjects. Genotype–phenotype correlation was performed by also including 50 previously published patients (15 mono- and 35 bi-allelic variants). Overall, GDD (p < 0.0001), epilepsy (p < 0.0001), hyporeflexia (p = 0.012), ASD (p = 0.009), language impairment (p = 0.020) and severe cognitive impairment (p = 0.031) were significantly associated with the presence of biallelic versus monoallelic variants. We have defined the main features associated with biallelic CNTNAP2 variants, as severe cognitive impairment, epilepsy and behavioral abnormalities. We propose CASPR2-deficiency neurodevelopmental disorder as an exclusively recessive disease while the contribution of heterozygous variants is less likely to follow an autosomal dominant inheritance pattern.

Abstract

Visual information conveyed by iconic hand gestures and visible speech can enhance speech comprehension under adverse listening conditions for both native and non‐native listeners. However, how a listener allocates visual attention to these articulators during speech comprehension is unknown. We used eye‐tracking to investigate whether and how native and highly proficient non‐native listeners of Dutch allocated overt eye gaze to visible speech and gestures during clear and degraded speech comprehension. Participants watched video clips of an actress uttering a clear or degraded (6‐band noise‐vocoded) action verb while performing a gesture or not, and were asked to indicate the word they heard in a cued‐recall task. Gestural enhancement was the largest (i.e., a relative reduction in reaction time cost) when speech was degraded for all listeners, but it was stronger for native listeners. Both native and non‐native listeners mostly gazed at the face during comprehension, but non‐native listeners gazed more often at gestures than native listeners. However, only native but not non‐native listeners' gaze allocation to gestures predicted gestural benefit during degraded speech comprehension. We conclude that non‐native listeners might gaze at gesture more as it might be more challenging for non‐native listeners to resolve the degraded auditory cues and couple those cues to phonological information that is conveyed by visible speech. This diminished phonological knowledge might hinder the use of semantic information that is conveyed by gestures for non‐native compared to native listeners. Our results demonstrate that the degree of language experience impacts overt visual attention to visual articulators, resulting in different visual benefits for native versus non‐native listeners.

Abstract

Listeners are often challenged by adverse listening conditions during language comprehension induced by external factors, such as noise, but also internal factors, such as being a non-native listener. Visible cues, such as semantic information conveyed by iconic gestures, can enhance language comprehension in such situations. Using magnetoencephalography (MEG) we investigated whether spatiotemporal oscillatory dynamics can predict a listener's benefit of iconic gestures during language comprehension in both internally (non-native versus native listeners) and externally (clear/degraded speech) induced adverse listening conditions. Proficient non-native speakers of Dutch were presented with videos in which an actress uttered a degraded or clear verb, accompanied by a gesture or not, and completed a cued-recall task after every video. The behavioral and oscillatory results obtained from non-native listeners were compared to an MEG study where we presented the same stimuli to native listeners (Drijvers et al., 2018a). Non-native listeners demonstrated a similar gestural enhancement effect as native listeners, but overall scored significantly slower on the cued-recall task. In both native and non-native listeners, an alpha/beta power suppression revealed engagement of the extended language network, motor and visual regions during gestural enhancement of degraded speech comprehension, suggesting similar core processes that support unification and lexical access processes. An individual's alpha/beta power modulation predicted the gestural benefit a listener experienced during degraded speech comprehension. Importantly, however, non-native listeners showed less engagement of the mouth area of the primary somatosensory cortex, left insula (beta), LIFG and ATL (alpha) than native listeners, which suggests that non-native listeners might be hindered in processing the degraded phonological cues and coupling them to the semantic information conveyed by the gesture. Native and non-native listeners thus demonstrated similar yet distinct spatiotemporal oscillatory dynamics when recruiting visual cues to disambiguate degraded speech.

Abstract

During face-to-face communication, recipients need to rapidly integrate a plethora of auditory and visual signals. This integration of signals from many different bodily articulators, all offset in time, with the information in the speech stream may either tax the cognitive system, thus slowing down language processing, or may result in multimodal facilitation. Using the classical shadowing paradigm, participants shadowed speech from face-to-face, naturalistic dyadic conversations in an audiovisual context, an audiovisual context without visual speech (e.g., lips), and an audio-only context. Our results provide evidence of a multimodal facilitation effect in human communication: participants were faster in shadowing words when seeing multimodal messages compared with when hearing only audio. Also, the more visual context was present, the fewer shadowing errors were made, and the earlier in time participants shadowed predicted lexical items. We propose that the multimodal facilitation effect may contribute to the ease of fast face-to-face conversational interaction.

Abstract

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

Abstract

This paper presents a study of the spontaneous pre-sentential negations
of ten English-speaking children between the ages of 1; 6 and 3; 4 which
supports the hypothesis that child English nonanaphoric pre-sentential
negation is a form of metalinguistic exclamatory sentence negation. A
detailed discourse analysis reveals that children's pre-sentential negatives
like No Nathaniel a king (i) are characteristically echoic, and (it)
typically express objection and rectification, two characteristic functions
of exclamatory negation in adult discourse, e.g. Don't say 'Nathaniel's a
king'! A comparison of children's pre-sentential negations with their
internal predicate negations using not and don't reveals that the two
negative constructions are formally and functionally distinct. I argue
that children's nonanaphoric pre-sentential negatives constitute an
independent, well-formed class of discourse negation. They are not
'primitive' constructions derived from the miscategorization of emphatic
no in adult speech or children's 'inventions'. Nor are they an
early derivational variant of internal sentence negation. Rather, these
negatives reflect young children's competence in using grammatical
negative constructions appropriately in discourse.

Abstract

Este trabalho descreve e fundamenta a ortografia da língua Awetí (Tupí, Alto Xingu/mt), com base na análise da estrutura fonológica e gramatical do Awetí. A ortografia é resultado de um longo trabalho colaborativo entre os três autores, iniciado em 1998. Ela não define apenas um alfabeto (a representação das vogais e das consoantes da língua), mas também aborda a variação interna, ressilabificação, lenição, palatalização e outros processos (morfo‑)fonológicos. Tanto a representação escrita da oclusiva glotal, quanto as consequências ortográficas da harmonia nasal receberam uma atenção especial. Apesar de o acento lexical não ser ortograficamente marcado em Awetí, a grande maioria dos afixos e partículas é abordada considerando o acento e sua interação com morfemas adjacentes, ao mesmo tempo determinando as palavras ortográficas. Finalmente foi estabelecida a ordem alfabética em que dígrafos são tratados como sequências de letras, já a oclusiva glotal ⟨ʼ⟩ é ignorada, facilitando o aprendizado do Awetí. A ortografia tal como descrita aqui tem sido usada por aproximadamente dez anos na escola para a alfabetização em Awetí, com bons resultados obtidos. Acreditamos que vários dos argumentos aqui levantados podem ser produtivamente transferidos para outras línguas com fenômenos semelhantes (a oclusiva glotal como consoante, harmonia nasal, assimilação morfo-fonológica, etc.).

Abstract

Die Awetí sind ein kleiner Indianerstamm in Zentralbrasilien, der bislang nur wenig Kontakt mit Weißen hatte. Im Zuge eines Programms der Volkswagenstiftung zur Dokumentation bedrohter Sprachen wird unser Autor die Awetí erneut besuchen und berichtet als „jüngerer Bruder des Häuptlings“ über seine Bemühungen, die Sprache der Awetí für künftige Generationen festzuhalten.

Abstract

Learning can occur via trial and error; however, learning from conspecifics is faster and more efficient. Social animals can easily learn from conspecifics, but how do less social species learn? In particular, birds provide astonishing examples of social learning of vocalizations, while vocal learning from conspecifics is much less understood in mammals. We present a hypothesis aimed at solving an apparent paradox: how can harbor seals (Phoca vitulina) learn their song when their whole lives are marked by loose conspecific social contact? Harbor seal pups are raised individually by their mostly silent mothers. Pups' first few weeks of life show developed vocal plasticity; these weeks are followed by relatively silent years until sexually mature individuals start singing. How can this rather solitary life lead to a learned song? Why do pups display vocal plasticity at a few weeks of age, when this is apparently not needed? Our hypothesis addresses these questions and tries to explain how vocal learning fits into the natural history of harbor seals, and potentially other less social mammals. We suggest that harbor seals learn during a sensitive period within puppyhood, where they are exposed to adult males singing. In particular, we hypothesize that, to make this learning possible, the following happens concurrently: (1) mothers give birth right before male singing starts, (2) pups enter a sensitive learning phase around weaning time, which (3) coincides with their foraging expeditions at sea which, (4) in turn, coincide with the peak singing activity of adult males. In other words, harbor seals show vocal learning as pups so they can acquire elements of their future song from adults, and solitary adults can sing because they have acquired these elements as pups. We review the available evidence and suggest that pups learn adult vocalizations because they are born exactly at the right time to eavesdrop on singing adults. We conclude by advancing empirical predictions and testable hypotheses for future work.

Abstract

This article explores the role of text and reader characteristics in character engagement experiences. In an online study, participants completed several self-report and behavioral measures of social-cognitive abilities and read two literary narratives in which the presence of linguistic viewpoint markers was varied using a highly controlled manipulation strategy. Afterward, participants reported on their character engagement experiences. A principal component analysis on participants’ responses revealed the multidimensional nature of character engagement, which included both self- and other-oriented emotional responses (e.g., empathy, personal distress) as well as more cognitive responses (e.g., identification, perspective taking). Furthermore, character engagement was found to rely on a wide range of social-cognitive abilities but not on the presence of viewpoint markers. Finally, and most importantly, we did not find convincing evidence for an interplay between social-cognitive abilities and the presence of viewpoint markers. These findings suggest that readers rely on their social-cognitive abilities to engage with the inner worlds of fictional others, more so than on the lexical cues of those inner worlds provided by the text.

Abstract

Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most speech and language impairments remain unexplained at the molecular level. We sequenced whole genomes of nineteen unrelated individuals diagnosed with childhood apraxia of speech, a rare disorder enriched for causative mutations of large effect. Where DNA was available from unaffected parents, we discovered de novo mutations, implicating genes, including CHD3, SETD1A and WDR5. In other probands, we identified novel loss-of-function variants affecting KAT6A, SETBP1, ZFHX4, TNRC6B and MKL2, regulatory genes with links to neurodevelopment. Several of the new candidates interact with each other or with known speech-related genes. Moreover, they show significant clustering within a single co-expression module of genes highly expressed during early human brain development. This study highlights gene regulatory pathways in the developing brain that may contribute to acquisition of proficient speech.

Abstract

Several theories of predictive processing propose reduced sensory and neural responses to anticipated events. Support comes from magnetoencephalography/electroencephalography (M/EEG) studies, showing reduced auditory N1 and P2 responses to self-generated compared to externally generated events, or when the timing and form of stimuli are more predictable. The current study examined the sensitivity of N1 and P2 responses to statistical speech regularities. We employed a motor-to-auditory paradigm comparing event-related potential (ERP) responses to externally and self-triggered pseudowords. Participants were presented with a cue indicating which button to press (motor-auditory condition) or which pseudoword would be presented (auditory-only condition). Stimuli consisted of the participant's own voice uttering pseudowords that varied in phonotactic probability and syllable stress. We expected to see N1 and P2 suppression for self-triggered stimuli, with greater suppression effects for more predictable features such as high phonotactic probability and first-syllable stress in pseudowords. In a temporal principal component analysis (PCA), we observed an interaction between syllable stress and condition for the N1, where second-syllable stress items elicited a larger N1 than first-syllable stress items, but only for externally generated stimuli. We further observed an effect of syllable stress on the P2, where first-syllable stress items elicited a larger P2. Strikingly, we did not observe motor-induced suppression for self-triggered stimuli for either the N1 or P2 component, likely due to the temporal predictability of the stimulus onset in both conditions. Taking into account previous findings, the current results suggest that sensitivity to syllable stress regularities depends on task demands.

Abstract

‘Lip-pointing’ is a widespread but little-documented form of deictic gesture, which may involve not just protruding one or both lips, but also raising the head, sticking out the chin, lifting the eyebrows, among other things. This paper discusses form and function of lip-pointing with reference to a set of examples collected on video in Laos. There are various parameters with respect to which the conventional form of a lip-pointing gesture may vary. There is also a range of ways in which lip-pointing gestures can be coordinated with other kinds of deictic gesture such as various forms of hand pointing. The attested coordinating/sequencing possibilities can be related to specific functional properties of lip-pointing among Lao speakers, particularly in the context of other forms of deictic gesture, which have different functional properties. It is argued that the ‘vector’ of lip-pointing is in fact defined by gaze, and that the lip-pointing action itself (like other kinds of ‘pointing’ involving the head area) is a ‘gaze-switch’, i.e. it indicates that the speaker is now pointing out something with his or her gaze. Finally, I consider the position of lip-pointing in the broader deictic gesture system of Lao speakers, firstly as a ‘lower register’ form, and secondly as a form of deictic gesture which may contrast with forms of hand pointing.

Abstract

How do people answer polar questions? In this fourteen-language study of answers to questions in conversation, we compare the two main strategies; first, interjection-type answers such as uh-huh (or equivalents yes, mm, head nods, etc.), and second, repetition-type answers that repeat some or all of the question. We find that all languages offer both options, but that there is a strong asymmetry in their frequency of use, with a global preference for interjection-type answers. We propose that this preference is motivated by the fact that the two options are not equivalent in meaning. We argue that interjection-type answers are intrinsically suited to be the pragmatically unmarked, and thus more frequent, strategy for confirming polar questions, regardless of the language spoken. Our analysis is based on the semantic-pragmatic profile of the interjection-type and repetition-type answer strategies, in the context of certain asymmetries inherent to the dialogic speech act structure of question–answer sequences, including sequential agency and thematic agency. This allows us to see possible explanations for the outlier distributions found in ǂĀkhoe Haiǁom and Tzeltal.

Abstract

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

Abstract

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

Abstract

The oldest of the Celtic language family, Irish differs considerably from English, notably with respect to word order and case marking. In spite of differences in surface constituent structure, less restricted accounts of bilingual shared syntax predict that processing datives and passives in Irish should prime the production of their English equivalents. Furthermore, this cross-linguistic influence should be sensitive to L2 proficiency, if shared structural representations are assumed to develop over time. In Experiment 1, we investigated cross-linguistic structural priming from Irish to English in 47 bilingual adolescents who are educated through Irish. Testing took place in a classroom setting, using written primes and written sentence generation. We found that priming for prepositional-object (PO) datives was predicted by self-rated Irish (L2) proficiency, in line with previous studies. In Experiment 2, we presented translations of the materials to an English-educated control group (n=54). We found a within-language priming effect for PO datives, which was not modulated by English (L1) proficiency. Our findings are compatible with current theories of bilingual language processing and L2 syntactic acquisition.

Abstract

Strong and weak syllables in English can be distinguished on the basis of vowel quality, of stress, or of both factors. Critical for deciding between these factors are syllables containing unstressed unreduced vowels, such as the first syllable of automata. In this study 12 speakers produced sentences containing matched sets of words with initial vowels ranging from stressed to reduced, at normal and at fast speech rates. Measurements of the duration, intensity, F0, and spectral characteristics of the word-initial vowels showed that unstressed unreduced vowels differed significantly from both stressed and reduced vowels. This result held true across speaker sex and dialect. The vowels produced by one speaker were then cross-spliced across the words within each set, and the resulting words' acceptability was rated by listeners. In general, cross-spliced words were only rated significantly less acceptable than unspliced words when reduced vowels interchanged with any other vowel. Correlations between rated acceptability and acoustic characteristics of the cross-spliced words demonstrated that listeners were attending to duration, intensity, and spectral characteristics. Together these results suggest that unstressed unreduced vowels in English pattern differently from both stressed and reduced vowels, so that no acoustic support for a binary categorical distinction exists; nevertheless, listeners make such a distinction, grouping unstressed unreduced vowels by preference with stressed vowels

Abstract

Aging, often considered a result of random cellular damage, can be accurately estimated using DNA methylation profiles, the foundation of pan-tissue epigenetic clocks. Here, we demonstrate the development of universal pan-mammalian clocks, using 11,754 methylation arrays from our Mammalian Methylation Consortium, which encompass 59 tissue types across 185 mammalian species. These predictive models estimate mammalian tissue age with high accuracy (r > 0.96). Age deviations correlate with human mortality risk, mouse somatotropic axis mutations and caloric restriction. We identified specific cytosines with methylation levels that change with age across numerous species. These sites, highly enriched in polycomb repressive complex 2-binding locations, are near genes implicated in mammalian development, cancer, obesity and longevity. Our findings offer new evidence suggesting that aging is evolutionarily conserved and intertwined with developmental processes across all mammals.

Abstract

When speaking in any language, speakers must conceptualize what they want to say before they can formulate and articulate their message. We present two experiments employing a novel experimental paradigm in which the formulating and articulating stages of speech production were kept identical across conditions of differing conceptualizing difficulty. We tracked the effect of difficulty in conceptualizing during the generation of speech (Experiment 1) and during the abandonment and regeneration of speech (Experiment 2) on speaking fluency by Dutch native speakers in their first (L1) and second (L2) language (English). The results showed that abandoning and especially regenerating a speech plan taxes the speaker, leading to disfluencies. For most fluency measures, the increases in disfluency were similar across L1 and L2. However, a significant interaction revealed that abandoning and regenerating a speech plan increases the time needed to solve conceptual difficulties while speaking in the L2 to a greater degree than in the L1. This finding supports theories in which cognitive resources for conceptualizing are shared with those used for later stages of speech planning. Furthermore, a practical implication for language assessment is that increasing the conceptual difficulty of speaking tasks should be considered with caution.

Abstract

Adults process speech incrementally, rapidly identifying spoken words on the basis of initial phonetic information sufficient to distinguish them from alternatives. In this study, infants in the second year also made use of word-initial information to understand fluent speech. The time course of comprehension was examined by tracking infants' eye movements as they looked at pictures in response to familiar spoken words, presented both as whole words in intact form and as partial words in which only the first 300 ms of the word was heard. In Experiment 1, 21-month-old infants (N = 32) recognized partial words as quickly and reliably as they recognized whole words; in Experiment 2, these findings were replicated with 18-month-old infants (N = 32). Combining the data from both experiments, efficiency in spoken word recognition was examined in relation to level of lexical development. Infants with more than 100 words in their productive vocabulary were more accurate in identifying familiar words than were infants with less than 60 words. Grouped by response speed, infants with faster mean reaction times were more accurate in word recognition and also had larger productive vocabularies than infants with slower response latencies. These results show that infants in the second year are capable of incremental speech processing even before entering the vocabulary spurt, and that lexical growth is associated with increased speed and efficiency in understanding spoken language.

Abstract

Our understanding of dual-process models of cognition may benefit from a consideration of language processing, as language comprehension involves fast and slow processes analogous to those used for reasoning. More specifically, De Neys's criticisms of the exclusivity assumption and the fast-to-slow switch mechanism are consistent with findings from the literature on the construction and revision of linguistic interpretations.

Abstract

A large literature in social neuroscience has associated the medial prefrontal cortex (mPFC) with the processing of self-related information. However, only recently have social neuroscience studies begun to consider the large behavioral literature showing a strong self-positivity bias, and these studies have mostly focused on its correlates during self-related judgments and decision making. We carried out a functional MRI (fMRI) study to ask whether the mPFC would show effects of the self-positivity bias in a paradigm that probed participants’ self-concept without any requirement of explicit self-judgment. We presented social vignettes that were either self-relevant or non-self-relevant with a neutral, positive, or negative outcome described in the second sentence. In previous work using event-related potentials, this paradigm has shown evidence of a self-positivity bias that influences early stages of semantically processing incoming stimuli. In the present fMRI study, we found evidence for this bias within the mPFC: an interaction between self-relevance and valence, with only positive scenarios showing a self vs other effect within the mPFC. We suggest that the mPFC may play a role in maintaining a positively-biased self-concept and discuss the implications of these findings for the social neuroscience of the self and the role of the mPFC.

Abstract

Family and twin studies of developmental dyslexia have consistently shown that there is a significant heritable component for this disorder. However, any genetic basis for the trait is likely to be complex, involving reduced penetrance, phenocopy, heterogeneity and oligogenic inheritance. This complexity results in reduced power for traditional parametric linkage analysis, where specification of the correct genetic model is important. One strategy is to focus on large multigenerational pedigrees with severe phenotypes and/or apparent simple Mendelian inheritance, as has been successfully demonstrated for speech and language impairment. This approach is limited by the scarcity of such families. An alternative which has recently become feasible due to the development of high-throughput genotyping techniques is the analysis of large numbers of sib-pairs using allele-sharing methodology. This paper outlines our strategy for conducting a systematic genome-wide search for genes involved in dyslexia in a large number of affected sib-pair familites from the UK. We use a series of psychometric tests to obtain different quantitative measures of reading deficit, which should correlate with different components of the dyslexia phenotype, such as phonological awareness and orthographic coding ability. This enable us to use QTL (quantitative trait locus) mapping as a powerful tool for localising genes which may contribute to reading and spelling disability.

Abstract

Recent application of nonparametric-linkage analysis to reading disability has implicated a putative quantitative-trait locus (QTL) on the short arm of chromosome 6. In the present study, we use QTL methods to evaluate linkage to the 6p25-21.3 region in a sample of 181 sib pairs from 82 nuclear families that were selected on the basis of a dyslexic proband. We have assessed linkage directly for several quantitative measures that should correlate with different components of the phenotype, rather than using a single composite measure or employing categorical definitions of subtypes. Our measures include the traditional IQ/reading discrepancy score, as well as tests of word recognition, irregular-word reading, and nonword reading. Pointwise analysis by means of sib-pair trait differences suggests the presence, in 6p21.3, of a QTL influencing multiple components of dyslexia, in particular the reading of irregular words (P=.0016) and nonwords (P=.0024). A complementary statistical approach involving estimation of variance components supports these findings (irregular words, P=.007; nonwords, P=.0004). Multipoint analyses place the QTL within the D6S422-D6S291 interval, with a peak around markers D6S276 and D6S105 consistently identified by approaches based on trait differences (irregular words, P=.00035; nonwords, P=.0035) and variance components (irregular words, P=.007; nonwords, P=.0038). Our findings indicate that the QTL affects both phonological and orthographic skills and is not specific to phoneme awareness, as has been previously suggested. Further studies will be necessary to obtain a more precise localization of this QTL, which may lead to the isolation of one of the genes involved in developmental dyslexia.

Abstract

We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcoma. A second contig, mapping proximal to the first, is estimated to be over 2.1 Mb and links the hypervariable locus DXS255 to DXS146, and also contains a chloride channel gene that is responsible for hereditary nephrolithiasis. We have used plasmid rescue, inverse PCR, and Alu-PCR to generate 20 novel markers from this region, 1 of which is polymorphic, and have positioned these relative to one another on the basis of YAC analysis. The order of previously known markers within our contigs, Xpter-OATL1-GATA-TFE3-SYP-DXS255146- Xcen, agrees with genomic pulsed-field maps of the region. In addition, we have constructed a rare-cutter restriction map for a 710-kb region of the DXS255-DXS146 contig and have identified three CPG islands. These contigs and new markers will provide a useful resource for more detailed analysis of Xp11.23-p11.22, a region implicated in several genetic diseases.

Abstract

Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients with this disorder. Here we describe the isolation and characterization of the complete open reading frame of the human CLCN5 gene, which is predicted to encode a protein of 746 amino acids, with significant homology to all known members of the ClC family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes the recently identified genes CLCN3 and CLCN4. We have shown that the coding region of CLCN5 is organized into 12 exons, spanning 25-30 kb of genomic DNA, and have determined the sequence of each exon-intron boundary. The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus.

Abstract

FOXP2 mutations cause a speech and language disorder, raising interest in potential roles of this gene in human evolution. A new study re-evaluates genomic variation at the human FOXP2 locus but finds no evidence of recent adaptive evolution.

Abstract

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