Publications

Abstract

Variation in plasma levels of cortisol, an essential hormone in the stress response, is associated in population-based studies with cardio-metabolic, inflammatory and neuro-cognitive traits and diseases. Heritability of plasma cortisol is estimated at 30-60% but no common genetic contribution has been identified. The CORtisol NETwork (CORNET) consortium undertook genome wide association meta-analysis for plasma cortisol in 12,597 Caucasian participants, replicated in 2,795 participants. The results indicate that <1% of variance in plasma cortisol is accounted for by genetic variation in a single region of chromosome 14. This locus spans SERPINA6, encoding corticosteroid binding globulin (CBG, the major cortisol-binding protein in plasma), and SERPINA1, encoding α1-antitrypsin (which inhibits cleavage of the reactive centre loop that releases cortisol from CBG). Three partially independent signals were identified within the region, represented by common SNPs; detailed biochemical investigation in a nested sub-cohort showed all these SNPs were associated with variation in total cortisol binding activity in plasma, but some variants influenced total CBG concentrations while the top hit (rs12589136) influenced the immunoreactivity of the reactive centre loop of CBG. Exome chip and 1000 Genomes imputation analysis of this locus in the CROATIA-Korcula cohort identified missense mutations in SERPINA6 and SERPINA1 that did not account for the effects of common variants. These findings reveal a novel common genetic source of variation in binding of cortisol by CBG, and reinforce the key role of CBG in determining plasma cortisol levels. In turn this genetic variation may contribute to cortisol-associated degenerative diseases.

Abstract

Rapid Automatized Naming (RAN) is a powerful tool for pre- dicting future reading skill. A person’s ability to quickly name symbols as they scan a table is related to higher-level reading proficiency in adults and is predictive of future literacy gains in children. However, noticeable differences are present in the strategies or patterns within groups having similar task comple- tion times. Thus, a further stratification of RAN dynamics may lead to better characterization and later intervention to support reading skill acquisition. In this work, we analyze the dynamics of the eyes, voice, and the coordination between the two during performance. It is shown that fast performers are more similar to each other than to slow performers in their patterns, but not vice versa. Further insights are provided about the patterns of more proficient subjects. For instance, fast performers tended to exhibit smoother behavior contours, suggesting a more sta- ble perception-production process.

Abstract

Allergen-specific immunoglobulin E (present in allergic sensitization) has a central role in the pathogenesis of allergic disease. We performed the first large-scale genome-wide association study (GWAS) of allergic sensitization in 5,789 affected individuals and 10,056 controls and followed up the top SNP at each of 26 loci in 6,114 affected individuals and 9,920 controls. We increased the number of susceptibility loci with genome-wide significant association with allergic sensitization from three to ten, including SNPs in or near TLR6, C11orf30, STAT6, SLC25A46, HLA-DQB1, IL1RL1, LPP, MYC, IL2 and HLA-B. All the top SNPs were associated with allergic symptoms in an independent study. Risk-associated variants at these ten loci were estimated to account for at least 25% of allergic sensitization and allergic rhinitis. Understanding the molecular mechanisms underlying these associations may provide new insights into the etiology of allergic disease.

Abstract

Alphabetic orthographies show more or less ambiguous relations between spelling and sound patterns. In transparent orthographies, like Italian, the pronunciation can be predicted from the spelling and vice versa. Opaque orthographies, like English, often display unpredictable spelling–sound correspondences. In this paper we present a computational analysis of word-initial bi-directional spelling–sound correspondences for Dutch, English, French, German, and Hungarian, stated in entropy values for various grain sizes. This allows us to position the five languages on the continuum from opaque to transparent orthographies, both in spelling-to-sound and sound-to-spelling directions. The analysis is based on metrics derived from information theory, and therefore independent of any specific theory of visual word recognition as well as of any specific theoretical approach of orthography.

Abstract

Prosodic juncture concerns the compartmentalization and partitioning of syntactic entities in spoken discourse by means of prosody. It has been argued that the Intonation Unit, defined by internal criteria and prosodic boundary phenomena (e.g., final lengthening, pitch reset, pauses), encapsulates the basic structural unit of spoken Modern Hebrew.

Abstract

Speech comprehension involves extensive use of prediction. Linguistic prediction may be guided by the semantics or syntax, but also by the performance characteristics of the speech signal, such as disfluency. Previous studies have shown that listeners, when presented with the filler uh, exhibit a disfluency bias for discourse-new or unknown referents, drawing inferences about the source of the disfluency. The goal of the present study is to study the contrast between native and non-native disfluencies in speech comprehension. Experiment 1 presented listeners with pictures of high-frequency (e.g., a hand) and low-frequency objects (e.g., a sewing machine) and with fluent and disfluent instructions. Listeners were found to anticipate reference to low-frequency objects when encountering disfluency, thus attributing disfluency to speaker trouble in lexical retrieval. Experiment 2 showed that, when participants listened to disfluent non-native speech, no anticipation of low-frequency referents was observed. We conclude that listeners can adapt their predictive strategies to the (non-native) speaker at hand, extending our understanding of the role of speaker identity in speech comprehension.

Abstract

During conversation, spoken utterances occur in rich acoustic contexts, including speech produced by our interlocutor(s) and speech we produced ourselves. Prosodic characteristics of the acoustic context have been known to influence speech perception in a contrastive fashion: for instance, a vowel presented in a fast context is perceived to have a longer duration than the same vowel in a slow context. Given the ubiquity of the sound of our own voice, it may be that our own speech rate - a common source of acoustic context - also influences our perception of the speech of others. Two experiments were designed to test this hypothesis. Experiment 1 replicated earlier contextual rate effects by showing that hearing pre-recorded fast or slow context sentences alters the perception of ambiguous Dutch target words. Experiment 2 then extended this finding by showing that talking at a fast or slow rate prior to the presentation of the target words also altered the perception of those words. These results suggest that between-talker variation in speech rate production may induce between-talker variation in speech perception, thus potentially explaining why interlocutors tend to converge on speech rate in dialogue settings.

Abstract

Fricative consonants in Hebrew can be divided into bgdkpt and sibilants (ז, ס, צ, שׁ, שׂ). Hebrew sibilants have been argued to stem from Proto-Semitic affricates, laterals, interdentals and /s/. In standard Israeli Hebrew the sibilants are pronounced as [s] (ס and שׂ), [ʃ] (שׁ), [z] (ז), [ʦ] (צ).

Abstract

Where native speakers supposedly are fluent by default, non-native speakers often have to strive hard to achieve a native-like fluency level. However, disfluencies (such as pauses, fillers, repairs, etc.) occur in both native and non-native speech and it is as yet unclear ow luency raters weigh the fluency characteristics of native and non-native speech. Two rating experiments compared the way raters assess the luency of native and non-native speech. The fluency characteristics of native and non- native speech were controlled by using phonetic anipulations in pause (Experiment 1) and speed characteristics (Experiment 2). The results show that the ratings on manipulated native and on-native speech were affected in a similar fashion. This suggests that there is no difference in the way listeners weigh the fluency haracteristics of native and non-native speakers.

Abstract

Disfluency is a common characteristic of spontaneously produced speech. Disfluencies (e.g., silent pauses, filled pauses [uh’s and uhm’s], corrections, repetitions, etc.) occur in both native and non-native speech. There appears to be an apparent contradiction between claims from the evaluative and cognitive approach to fluency. On the one hand, the evaluative approach shows that non-native disfluencies have a negative effect on listeners’ subjective fluency impressions. On the other hand, the cognitive approach reports beneficial effects of native disfluencies on cognitive processes involved in speech comprehension, such as prediction and attention.

This dissertation aims to resolve this apparent contradiction by combining the evaluative and cognitive approach. The reported studies target both the evaluation (Chapters 2 and 3) and the processing of fluency (Chapters 4 and 5) in native and non-native speech. Thus, it provides an integrative account of native and non-native fluency perception, informative to both language testing practice and cognitive psycholinguists. The proposed account of fluency perception testifies to the notion that speech performance matters: communication through spoken language does not only depend on what is said, but also on how it is said and by whom.

Abstract

The oral fluency level of an L2 speaker is often used as a measure in assessing language proficiency. The present study reports on four experiments investigating the contributions of three fluency aspects (pauses, speed and repairs) to perceived fluency. In Experiment 1 untrained raters evaluated the oral fluency of L2 Dutch speakers. Using specific acoustic measures of pause, speed and repair phenomena, linear regression analyses revealed that pause and speed measures best predicted the subjective fluency ratings, and that repair measures contributed only very little. A second research question sought to account for these results by investigating perceptual sensitivity to acoustic pause, speed and repair phenomena, possibly accounting for the results from Experiment 1. In Experiments 2–4 three new groups of untrained raters rated the same L2 speech materials from Experiment 1 on the use of pauses, speed and repairs. A comparison of the results from perceptual sensitivity (Experiments 2–4) with fluency perception (Experiment 1) showed that perceptual sensitivity alone could not account for the contributions of the three aspects to perceived fluency. We conclude that listeners weigh the importance of the perceived aspects of fluency to come to an overall judgment.

Abstract

Relational grammar was proposed in Suppes (1976) as a semantical grammar for natural language. Fragments considered so far are restricted to distributive notions. In this article, relational grammar is extended to collective notions.

Abstract

(From the chapter) the first section considers very briefly the kinds of processes that can be inferred to underlie errors that do not set in until after a period of correct usage acquisition often seems to be a more extended process than we have envisioned summarize a currently influential model of how linguistic forms, meaning, and communication are interrelated in the acquisition of language, point out some challenging problems for this model, and suggest that the notion of "meaning" in language must be reconceptualized before we can hope to solve these problems evidence from several types of late errors is marshalled in support of these arguments (From the preface) provides many examples of new errors that children introduce at relatively advanced stages of mastery of semantics and syntax Bowerman views these seemingly backwards steps as indications of definite steps forward by the child achieving reflective, flexible and integrated systems of semantics and syntax (

Abstract

Attempts to explain children's grammatical development often assume a close initial match between units of meaning and units of form; for example, agents are said to map to sentence-subjects and actions to verbs. The meanings themselves, according to this view, are not influenced by language, but reflect children's universal non-linguistic way of understanding the world. This paper argues that, contrary to this position, meaning as it is expressed in children's early sentences is, from the beginning, organized on the basis of experience with the grammar and lexicon of a particular language. As a case in point, children learning English and Korean are shown to express meanings having to do with directed motion according to language-specific principles of semantic and grammatical structuring from the earliest stages of word combination.

Abstract

How similar are the event concepts encoded by different languages? So far, few event domains have been investigated in any detail. The PUT project extends the systematic cross-linguistic exploration of event categorisation to a new domain, that of placement events (putting things in places and removing them from places). The goal of this task is to explore cross-linguistic universality and variability in the semantic categorisation of placement events (e.g., ‘putting a cup on the table’).

Abstract

This study reports three experiments on how children learning Mandarin Chinese comprehend and use aspect markers. These experiments examine the role of lexical aspect in children's acquisition of grammatical aspect. Results provide converging evidence for children's early sensitivity to (1) the association between atelic verbs and the imperfective aspect markers zai, -zhe, and -ne, and (2) the association between telic verbs and the perfective aspect marker -le. Children did not show a sensitivity in their use or understanding of aspect markers to the difference between stative and activity verbs or between semelfactive and activity verbs. These results are consistent with Slobin's (1985) basic child grammar hypothesis that the contrast between process and result is important in children's early acquisition of temporal morphology. In contrast, they are inconsistent with Bickerton's (1981, 1984) language bioprogram hypothesis that the distinctions between state and process and between punctual and nonpunctual are preprogrammed into language learners. We suggest new ways of looking at the results in the light of recent probabilistic hypotheses that emphasize the role of input, prototypes and connectionist representations.

Abstract

Reprinted from: Bowerman, M. (1981). The child's expression of meaning: Expanding relationships among lexicon, syntax, and morphology. In H. Winitz (Ed.), Native language and foreign language acquisition (pp. 172 189). New York: New York Academy of Sciences.

Abstract

This study considers the role of verbal working memory in sentence comprehension in typically developing English-speaking children. Fifty-six (N = 56) children aged 4;0–6;6 completed a test of language comprehension that contained sentences which varied in complexity, standardized tests of vocabulary and nonverbal intelligence, and three tests of memory that measured the three verbal components of Baddeley's model of Working Memory (WM): the phonological loop, the episodic buffer, and the central executive. The results showed that children experienced most difficulty comprehending sentences that contained noncanonical word order (passives and object relative clauses). A series of linear mixed effects models were run to analyze the contribution of each component of WM to sentence comprehension. In contrast to most previous studies, the measure of the central executive did not predict comprehension accuracy. A canonicity by episodic buffer interaction showed that the episodic buffer measure was positively associated with better performance on the noncanonical sentences. The results are discussed with reference to capacity-limit and experience-dependent approaches to language comprehension.

Abstract

his study investigates the interaction between surface and colour knowledge information during object recognition. In two different experiments, participants were instructed to decide whether two presented stimuli belonged to the same object identity. On the non-matching trials, we manipulated the shape and colour knowledge information activated by the two stimuli by creating four different stimulus pairs: (1) similar in shape and colour (e.g. TOMATO–APPLE); (2) similar in shape and dissimilar in colour (e.g. TOMATO–COCONUT); (3) dissimilar in shape and similar in colour (e.g. TOMATO–CHILI PEPPER) and (4) dissimilar in both shape and colour (e.g. TOMATO–PEANUT). The object pictures were presented in typical and atypical colours and also in black-and-white. The interaction between surface and colour knowledge showed to be contingent upon shape information: while colour knowledge is more important for recognising structurally similar shaped objects, surface colour is more prominent for recognising structurally dissimilar shaped objects.

Abstract

Humans display structural and functional asymmetries in brain organization, strikingly with respect to language and handedness. The molecular basis of these asymmetries is unknown. We report a genome-wide association study meta-analysis for a quantitative measure of relative hand skill in individuals with dyslexia [reading disability (RD)] (n = 728). The most strongly associated variant, rs7182874 (P = 8.68×10−9), is located in PCSK6, further supporting an association we previously reported. We also confirmed the specificity of this association in individuals with RD; the same locus was not associated with relative hand skill in a general population cohort (n = 2,666). As PCSK6 is known to regulate NODAL in the development of left/right (LR) asymmetry in mice, we developed a novel approach to GWAS pathway analysis, using gene-set enrichment to test for an over-representation of highly associated variants within the orthologs of genes whose disruption in mice yields LR asymmetry phenotypes. Four out of 15 LR asymmetry phenotypes showed an over-representation (FDR≤5%). We replicated three of these phenotypes; situs inversus, heterotaxia, and double outlet right ventricle, in the general population cohort (FDR≤5%). Our findings lead us to propose that handedness is a polygenic trait controlled in part by the molecular mechanisms that establish LR body asymmetry early in development.

Abstract

Multivariate pattern classification methods are increasingly applied to neuroimaging data in the context of both fundamental research and in brain-computer interfacing approaches. Such methods provide a framework for interpreting measurements made at the single-trial level with respect to a set of two or more distinct mental states. Here, we define an approach in which the output of a binary classifier trained on data from an auditory mismatch paradigm can be used for online tracking of perception and as a neurofeedback signal. The auditory mismatch paradigm is known to induce distinct perceptual states related to the presentation of high- and low-probability stimuli, which are reflected in event-related potential (ERP) components such as the mismatch negativity (MMN). The first part of this paper illustrates how pattern classification methods can be applied to data collected in an MMN paradigm, including discussion of the optimization of preprocessing steps, the interpretation of features and how the performance of these methods generalizes across individual participants and measurement sessions. We then go on to show that the output of these decoding methods can be used in online settings as a continuous index of single-trial brain activation underlying perceptual discrimination. We conclude by discussing several potential domains of application, including neurofeedback, cognitive monitoring and passive brain-computer interfaces

Abstract

Brain-computer interfaces (BCIs) are systems that use real-time analysis of neuroimaging data to determine the mental state of their user for purposes such as providing neurofeedback. Here, we investigate the feasibility of a BCI based on speech perception. Multivariate pattern classification methods were applied to single-trial EEG data collected during speech perception by native and non-native speakers. Two principal questions were asked: 1) Can differences in the perceived categories of pairs of phonemes be decoded at the single-trial level? 2) Can these same categorical differences be decoded across participants, within or between native-language groups? Results indicated that classification performance progressively increased with respect to the categorical status (within, boundary or across) of the stimulus contrast, and was also influenced by the native language of individual participants. Classifier performance showed strong relationships with traditional event-related potential measures and behavioral responses. The results of the cross-participant analysis indicated an overall increase in average classifier performance when trained on data from all participants (native and non-native). A second cross-participant classifier trained only on data from native speakers led to an overall improvement in performance for native speakers, but a reduction in performance for non-native speakers. We also found that the native language of a given participant could be decoded on the basis of EEG data with accuracy above 80%. These results indicate that electrophysiological responses underlying speech perception can be decoded at the single-trial level, and that decoding performance systematically reflects graded changes in the responses related to the phonological status of the stimuli. This approach could be used in extensions of the BCI paradigm to support perceptual learning during second language acquisition

Abstract

Both notional and grammatical number affect agreement during language production. To explore their workings, we investigated how semantic integration, a type of conceptual relatedness, produces variations in agreement (Solomon & Pearlmutter, 2004). These agreement variations are open to competing notional and lexical–grammatical number accounts. The notional hypothesis is that changes in number agreement reflect differences in referential coherence: More coherence yields more singularity. The lexical–grammatical hypothesis is that changes in agreement arise from competition between nouns differing in grammatical number: More competition yields more plurality. These hypotheses make opposing predictions about semantic integration. On the notional hypothesis, semantic integration promotes singular agreement. On the lexical–grammatical hypothesis, semantic integration promotes plural agreement. We tested these hypotheses with agreement elicitation tasks in two experiments. Both experiments supported the notional hypothesis, with semantic integration creating faster and more frequent singular agreement. This implies that referential coherence mediates the effect of semantic integration on number agreement.

Abstract

Automated processing of large amounts of scientific data, especially across domains, requires that the data can be selected and parsed without human intervention. Precise characterization of that data, as in typing, is needed once the processing goes beyond the realm of domain specific or local research group assumptions. The Research Data Alliance (RDA) Data Type Registries Working Group (DTR-WG) was assembled to address this issue through the creation of a Data Type Registry methodology, data model, and prototype. The WG was approved by the RDA Council during March of 2013 and will complete its work in mid-2014, in between the third and fourth RDA Plenaries.

Abstract

This study investigates cross-language lexical competition in the bilingual mental lexicon. It provides evidence for the occurrence of inhibition as well as the commonly reported facilitation during the production of cognates (words with similar phonological form and meaning in two languages) in a mixed picture naming task by highly proficient Welsh-English bilinguals. Previous studies have typically found cognate facilitation. It has previously been proposed (with respect to non-cognates) that cross-language inhibition is limited to low-proficient bilinguals; therefore, we tested highly proficient, early bilinguals. In a mixed naming experiment (i.e., picture naming with language switching), 48 highly proficient, early Welsh-English bilinguals named pictures in Welsh and English, including cognate and non-cognate targets. Participants were English-dominant, Welsh-dominant, or had equal language dominance. The results showed evidence for cognate inhibition in two ways. First, both facilitation and inhibition were found on the cognate trials themselves, compared to non-cognate controls, modulated by the participants' language dominance. The English-dominant group showed cognate inhibition when naming in Welsh (and no difference between cognates and controls when naming in English), and the Welsh-dominant and equal dominance groups generally showed cognate facilitation. Second, cognate inhibition was found as a behavioral adaptation effect, with slower naming for non-cognate filler words in trials after cognates than after non-cognate controls. This effect was consistent across all language dominance groups and both target languages, suggesting that cognate production involved cognitive control even if this was not measurable in the cognate trials themselves. Finally, the results replicated patterns of symmetrical switch costs, as commonly reported for balanced bilinguals. We propose that cognate processing might be affected by two different processes, namely competition at the lexical-semantic level and facilitation at the word form level, and that facilitation at the word form level might (sometimes) outweigh any effects of inhibition at the lemma level. In sum, this study provides evidence that cognate naming can cause costs in addition to benefits. The finding of cognate inhibition, particularly for the highly proficient bilinguals tested, provides strong evidence for the occurrence of lexical competition across languages in the bilingual mental lexicon.

Abstract

This study examined the influence of background language variation on speech recognition. English listeners performed an English sentence recognition task in either “pure” background conditions in which all trials had either English or Dutch background babble or in mixed background conditions in which the background language varied across trials (i.e., a mix of English and Dutch or one of these background languages mixed with quiet trials). This design allowed the authors to compare performance on identical trials across pure and mixed conditions. The data reveal that speech-in-speech recognition is sensitive to contextual variation in terms of the target-background language (mis)match depending on the relative ease/difficulty of the test trials in relation to the surrounding trials.

Abstract

Previous research has shown that talker variability affects recognition memory for spoken words (Palmeri et al., 1993). This study examines whether additive noise is similarly retained in memory for spoken words. In a continuous recognition memory task, participants listened to a list of spoken words mixed with noise consisting of a pure tone or of high-pass filtered white noise. The noise and speech were in non-overlapping frequency bands. In Experiment 1, listeners indicated whether each spoken word in the list was OLD (heard before in the list) or NEW. Results showed that listeners were as accurate and as fast at recognizing a word as old if it was repeated with the same or different noise. In Experiment 2, listeners also indicated whether words judged as OLD were repeated with the same or with a different type of noise. Results showed that listeners benefitted from hearing words presented with the same versus different noise. These data suggest that spoken words and temporally-overlapping but spectrally non-overlapping noise are retained or reconstructed together for explicit, but not for implicit recognition memory. This indicates that the extent to which noise variability is retained seems to depend on the depth of processing

Abstract

In two eye-tracking experiments we examined whether wider discourse information helps
the recognition of reduced pronunciations (e.g., 'puter') more than the recognition of
canonical pronunciations of spoken words (e.g., 'computer'). Dutch participants listened to
sentences from a casual speech corpus containing canonical and reduced target words. Target
word recognition was assessed by measuring eye fixation proportions to four printed words
on a visual display: the target, a "reduced form" competitor, a "canonical form" competitor
and an unrelated distractor. Target sentences were presented in isolation or with a wider
discourse context. Experiment 1 revealed that target recognition was facilitated by wider
discourse information. Importantly, the recognition of reduced forms improved significantly
when preceded by strongly rather than by weakly supportive discourse contexts. This was not
the case for canonical forms: listeners' target word recognition was not dependent on the
degree of supportive context. Experiment 2 showed that the differential context effects in
Experiment 1 were not due to an additional amount of speaker information. Thus, these data
suggest that in natural settings a strongly supportive discourse context is more important for
the recognition of reduced forms than the recognition of canonical forms.

Abstract

How are events framed in narrative? Speakers of English (a 'satellite-framed' language), when 'reading' Mercer Mayer's wordless picture book 'Frog, Where Are You?', find the story self-evident: a boy has a dog and a pet frog; the frog escapes and runs away; the boy and dog look for it across hill and dale, through woods and over a cliff, until they find it and return home with a baby frog child of the original pet frog. In Tzeltal, as spoken in a Mayan community in southern Mexico, the story is somewhat different, because the language structures event descriptions differently. Tzeltal is in part a 'verb-framed' language with a set of Path-encoding motion verbs, so that the bare bones of the Frog story can consist of verbs translating as 'go'/'pass by'/'ascend'/ 'descend'/ 'arrive'/'return'. But Tzeltal also has satellite-framing adverbials, grammaticized from the same set of motion verbs, which encode the direction of motion or the orientation of static arrays. Furthermore, motion is not generally encoded barebones, but vivid pictorial detail is provided by positional verbs which can describe the position of the Figure as an outcome of a motion event; motion and stasis are thereby combined in a single event description. (For example: jipot jawal "he has been thrown (by the deer) lying¬_face_upwards_spread-eagled". This paper compares the use of these three linguistic resources in frog narratives from 14 Tzeltal adults and 21 children, looks at their development in the narratives of children between the ages of 4-12, and considers the results in relation to those from Berman and Slobin's (1996) comparative study of adult and child Frog stories.

Abstract

A major finding in studies of early vocabulary acquisition has been that children tend to learn a lot of nouns early but make do with relatively few verbs, among which semantically general-purpose verbs like do, make, get, have, give, come, go, and be play a prominent role. The preponderance of nouns is explained in terms of nouns labelling concrete objects beings “easier” to learn than verbs, which label relational categories. Nouns label “natural categories” observable in the world, verbs label more linguistically and culturally specific categories of events linking objects belonging to such natural categories (Gentner 1978, 1982; Clark 1993). This view has been challenged recently by data from children learning certain non-Indo-European languges like Korean, where children have an early verb explosion and verbs dominate in early child utterances. Children learning the Mayan language Tzeltal also acquire verbs early, prior to any noun explosion as measured by production. Verb types are roughly equivalent to noun types in children’s beginning production vocabulary and soon outnumber them. At the one-word stage children’s verbs mostly have the form of a root stripped of affixes, correctly segmented despite structural difficulties. Quite early (before the MLU 2.0 point) there is evidence of productivity of some grammatical markers (although they are not always present): the person-marking affixes cross-referencing core arguments, and the completive/incompletive aspectual distinctions. The Tzeltal facts argue against a natural-categories explanation for childre’s early vocabulary, in favor of a view emphasizing the early effects of language-specific properties of the input. They suggest that when and how a child acquires a “verb” category is centrally influenced by the structural properties of the input, and that the semantic structure of the language - where the referential load is concentrated - plays a fundamental role in addition to distributional facts.

Abstract

When Tzeltal children in the Mayan community of Tenejapa, in southern Mexico, begin speaking, their production vocabulary consists predominantly of verb roots, in contrast to the dominance of nouns in the initial vocabulary of first‐language learners of Indo‐European languages. This article proposes that a particular Tzeltal conversational feature—known in the Mayanist literature as "dialogic repetition"—provides a context that facilitates the early analysis and use of verbs. Although Tzeltal babies are not treated by adults as genuine interlocutors worthy of sustained interaction, dialogic repetition in the speech the children are exposed to may have an important role in revealing to them the structural properties of the language, as well as in socializing the collaborative style of verbal interaction adults favor in this community.

Abstract

The surge of research activity focussing on children's acquisition of verbs (e.g., Tomasello and Merriman 1996) addresses some fundamental questions: Just how variable across languages, and across individual children, is the process of verb learning? How specific are arguments to particular verbs in early child language? How does the grammatical category 'Verb' develop? The position of Universal Grammar, that a verb category is early, contrasts with that of Tomasello (1992), Pine and Lieven and their colleagues (1996, in press), and many others, that children develop a verb category slowly, gradually building up subcategorizations of verbs around pragmatic, syntactic, and semantic properties of the language they are exposed to. On this latter view, one would expect the language which the child is learning, the cultural milieu and the nature of the interactions in which the child is engaged, to influence the process of acquiring verb argument structures. This paper explores these issues by examining the development of argument representation in the Mayan language Tzeltal, in both its lexical and verbal cross-referencing forms, and analyzing the semantic and pragmatic factors influencing the form argument representation takes. Certain facts about Tzeltal (the ergative/ absolutive marking, the semantic specificity of transitive and positional verbs) are proposed to affect the representation of arguments. The first 500 multimorpheme combinations of 3 children (aged between 1;8 and 2;4) are examined. It is argued that there is no evidence of semantically light 'pathbreaking' verbs (Ninio 1996) leading the way into word combinations. There is early productivity of cross-referencing affixes marking A, S, and O arguments (although there are systematic omissions). The paper assesses the respective contributions of three kinds of factors to these results - structural (regular morphology), semantic (verb specificity) and pragmatic (the nature of Tzeltal conversational interaction).

Abstract

This is a reprint of the Brown and Levinson 2000 article.

Abstract

The systematic study of kinesics, gaze, and gestural aspects of communication in Central American cultures is a recent phenomenon, most of it focussing on the Mayan cultures of southern Mexico, Guatemala, and Belize. This article surveys ethnographic observations and research reports on bodily aspects of speaking in three domains: gaze and kinesics in social interaction, indexical pointing in adult and caregiver-child interactions, and co-speech gestures associated with “absolute” (geographically-based) systems of spatial reference. In addition, it reports how the indigenous co-speech gesture repertoire has provided the basis for developing village sign languages in the region. It is argued that studies of the embodied aspects of speech in the Mayan areas of Mexico and Central America have contributed to the typology of gestures and of spatial frames of reference. They have refined our understanding of how spatial frames of reference are invoked, communicated, and switched in conversational interaction and of the importance of co-speech gestures in understanding language use, language acquisition, and the transmission of culture-specific cognitive styles.

Abstract

This task has two parts: (i) video-taped elicitation of the range of possibilities for referring to persons and places, and (ii) observations of (first) references to persons and places in video-taped natural interaction. The goal of this task is to establish the repertoires of referential terms (and other practices) used for referring to persons and to places in particular languages and cultures, and provide examples of situated use of these kinds of referential practices in natural conversation. This data will form the basis for cross-language comparison, and for formulating hypotheses about general principles underlying the deployment of such referential terms in natural language usage.

Abstract

Interaction, for all that it has an ethological base, is culturally constituted, and how new social members are enculturated into the interactional practices of the society is of critical interest to our understanding of interaction – how much is learned, how variable is it across cultures – as well as to our understanding of the role of culture in children’s social-cognitive development. The goal of this task is to document the nature of caregiver infant interaction in different cultures, especially during the critical age of 9-15 months when children come to have an understanding of others’ intentions. This is of interest to all students of interaction; it does not require specialist knowledge of children.

Abstract

This research received technical and financial support from Syracuse University, the Max Planck Institute for Psycholinguistics, and the Nederlandse Organisatie voor Wetenschappelijk Onderzoek (NWO; MPI 56-384, The Dynamics of Multilingual Processing, awarded to Marianne Gullberg and Peter Indefrey).

Abstract

This is a translation of the Brown 1998 article in Journal of Linguistic Anthropology, 'Conversational structure and language acquisition: The role of repetition in Tzeltal adult and child speech'.

Abstract

This is a Spanish translation of Brown 1997.

Abstract

This paper presents results of a comparative project documenting the development of verbal agreement inflections in children learning four different Mayan languages: K’iche’, Tzeltal, Tzotzil, and Yukatek. These languages have similar inflectional paradigms: they have a generally agglutinative morphology, with transitive verbs obligatorily marked with separate cross-referencing inflections for the two core arguments (‘ergative’ and ‘absolutive’). Verbs are also inflected for aspect and mood, and they carry a ‘status suffix’ which generally marks verb transitivity and mood. At a more detailed level, the four languages differ strikingly in the realization of cross-reference marking. For each language, we examined longitudinal language production data from two children at around 2;0, 2;6, 3;0, and 3;6 years of age. We relate differences in the acquisition patterns of verbal morphology in the languages to 1) the placement of affixes, 2) phonological and prosodic prominence, 3) language-specific constraints on the various forms of the affixes, and 4) consistent vs. split ergativity, and conclude that prosodic salience accounts provide th ebest explanation for the acquisition patterns in these four languages.

Abstract

This is a German translation of Brown 1980, How and why are women more polite: Some evidence from a Mayan community.

Abstract

This article is a reprint of chapter 1, the introduction to Brown and Levinson, 1987, Politeness: Some universals in language usage (Cambridge University Press).

Abstract

This paper addresses the theories of Eve Clark about how children learn word meanings in western middle-class interactional contexts by examining child language data from a Tzeltal Maya society in southern Mexico where interaction patterns are radically different. Through examples of caregiver interactions with children 12-30 months old, I ask what lessons we can learn from how the details of these interactions unfold in this non-child-centered cultural context, and specifically, what aspects of the Tzeltal linguistic and interactional context might help to focus children’s attention on the meanings and the conventional forms of words being used around them.

Abstract

Epigenetic effects on psychiatric traits remain relatively under-studied, and it remains unclear what the sizes of individual epigenetic effects may be, or how they vary between different clinical populations. The gene LRRTM1 (chromosome 2p12) has previously been linked and associated with schizophrenia in a parent-of-origin manner in a set of affected siblings (LOD = 4.72), indirectly suggesting a disruption of paternal imprinting at this locus in these families. From the same set of siblings that originally showed strong linkage at this locus, we analyzed 99 individuals using 454-bisulfite sequencing, from whole blood DNA, to measure the level of DNA methylation in the promoter region of LRRTM1. We also assessed seven additional loci that would be informative to compare. Paternal identity-by-descent sharing at LRRTM1, within sibling pairs, was linked to their similarity of methylation at the gene's promoter. Reduced methylation at the promoter showed a significant association with schizophrenia. Sibling pairs concordant for schizophrenia showed more similar methylation levels at the LRRTM1 promoter than diagnostically discordant pairs. The alleles of common SNPs spanning the locus did not explain this epigenetic linkage, which can therefore be considered as largely independent of DNA sequence variation and would not be detected in standard genetic association analysis. Our data suggest that hypomethylation at the LRRTM1 promoter, particularly of the paternally inherited allele, was a risk factor for the development of schizophrenia in this set of siblings affected with familial schizophrenia, and that had previously showed linkage at this locus in an affected-sib-pair context.

Abstract

We investigated localization performance of simple targets in patient TN, who suffered bilateral damage of his primary visual cortex and shows complete cortical blindness. Using a two-alternative forced-choice paradigm, TN was asked to guess the position of left-right targets with goal-directed and discrete manual responses. The results indicate a clear dissociation between goal-directed and discrete responses. TN pointed toward the correct target location in approximately 75% of the trials but was at chance level with discrete responses. This indicates that the residual ability to localize an unseen stimulus depends critically on the possibility to translate a visual signal into a goal-directed motor output at least in certain forms of blindsight.

Abstract

Cortical blindness refers to the loss of vision that occurs after destruction of the primary visual cortex. Although there is no sensory cortex and hence no conscious vision, some cortically blind patients show amygdala activation in response to facial or bodily expressions of emotion. Here we investigated whether direction of gaze could also be processed in the absence of any functional visual cortex. A well-known patient with bilateral destruction of his visual cortex and subsequent cortical blindness was investigated in an fMRI paradigm during which blocks of faces were presented either with their gaze directed toward or away from the viewer. Increased right amygdala activation was found in response to directed compared with averted gaze. Activity in this region was further found to be functionally connected to a larger network associated with face and gaze processing. The present study demonstrates that, in human subjects, the amygdala response to eye contact does not require an intact primary visual cortex.

Abstract

Heschl's gyrus (HG) is a core region of the auditory cortex whose morphology is highly variable across individuals. This variability has been linked to sound perception ability in both speech and music domains. Previous studies show that variations in morphological features of HG, such as cortical surface area and thickness, are heritable. To identify genetic variants that affect HG morphology, we conducted a genome-wide association scan (GWAS) meta-analysis in 3054 healthy individuals using HG surface area and thickness as quantitative traits. None of the single nucleotide polymorphisms (SNPs) showed association P values that would survive correction for multiple testing over the genome. The most significant association was found between right HG area and SNP rs72932726 close to gene DCBLD2 (3q12.1; P=2.77x10(-7)). This SNP was also associated with other regions involved in speech processing. The SNP rs333332 within gene KALRN (3q21.2; P=2.27x10(-6)) and rs143000161 near gene COBLL1 (2q24.3; P=2.40x10(-6)) were associated with the area and thickness of left HG, respectively. Both genes are involved in the development of the nervous system. The SNP rs7062395 close to the X-linked deafness gene POU3F4 was associated with right HG thickness (Xq21.1; P=2.38x10(-6)). This is the first molecular genetic analysis of variability in HG morphology

Abstract

Much evidence has suggested that people conceive of time as flowing directionally in transverse space (e.g., from left to right for English speakers). However, this phenomenon has never been tested in a fully nonlinguistic paradigm where neither stimuli nor task use linguistic labels, which raises the possibility that time is directional only when reading/writing direction has been evoked. In the present study, English-speaking participants viewed a video where an actor sang a note while gesturing and reproduced the duration of the sung note by pressing a button. Results showed that the perceived duration of the note was increased by a long-distance gesture, relative to a short-distance gesture. This effect was equally strong for gestures moving from left to right and from right to left and was not dependent on gestures depicting movement through space; a weaker version of the effect emerged with static gestures depicting spatial distance. Since both our gesture stimuli and temporal reproduction task were nonlinguistic, we conclude that the spatial representation of time is nondirectional: Movement contributes, but is not necessary, to the representation of temporal information in a transverse timeline.

Abstract

Purpose: To investigate masking release for speech maskers for linguistically and phonetically close (English and Dutch) and distant (English and Mandarin) language pairs. Method: Thirty-two monolingual speakers of English with normal audiometric thresholds participated in the study. Data are reported for an English sentence recognition task in English and for Dutch and Mandarin competing speech maskers (Experiment 1) and noise maskers (Experiment 2) that were matched either to the long-term average speech spectra or to the temporal modulations of the speech maskers from Experiment 1. Results: Listener performance increased as the target-tomasker linguistic distance increased (English-in-English < English-in-Dutch < English-in-Mandarin). Conclusion: Spectral differences between maskers can account for some, but not all, of the variation in performance between maskers; however, temporal differences did not seem to play a significant role.

Abstract

Humans are the only species that uses communication to teach new knowledge to novices, usually to children (Tomasello, 1999 and Csibra and Gergely, 2006). This context of communication can employ “demonstrations” and it takes place with or without the help of objects (Clark, 1996). Previous research has focused on understanding the nature of demonstrations for very young children and with objects involved. However, little is known about the strategies used in demonstrating an action to an older child in comparison to another adult and without the use of objects, i.e., with gestures only. We tested if during demonstration of an action speakers use different degrees of iconicity in gestures for a child compared to an adult. 18 Italian subjects described to a camera how to make coffee imagining the listener as a 12-year-old child, a novice or an expert adult. While speech was found more informative both for the novice adult and for the child compared to the expert adult, the rate of iconic gestures increased and they were more informative and bigger only for the child compared to both of the adult conditions. Iconicity in gestures can be a powerful communicative strategy in teaching new knowledge to children in demonstrations and this is in line with claims that it can be used as a scaffolding device in grounding knowledge in experience (Perniss et al., 2010).

Abstract

Modulations of occipito-parietal α-band (8–14 Hz) power that are opposite in direction (α-enhancement vs. α-suppression) and origin of generation (ipsilateral vs. contralateral to the locus of attention) are a robust correlate of anticipatory visuospatial attention. Yet, the neural generators of these α-band modulations, their interdependence across homotopic areas, and their respective contribution to subsequent perception remain unclear. To shed light on these questions, we employed magnetoencephalography, while human volunteers performed a spatially cued detection task. Replicating previous findings, we found α-power enhancement ipsilateral to the attended hemifield and contralateral α-suppression over occipitoparietal sensors. Source localization (beamforming) analysis showed that α-enhancement and suppression were generated in 2 distinct brain regions, located in the dorsal and ventral visual streams, respectively. Moreover, α-enhancement and suppression showed different dynamics and contribution to perception. In contrast to the initial and transient dorsal α-enhancement, α-suppression in ventro-lateral occipital cortex was sustained and influenced subsequent target detection. This anticipatory biasing of ventrolateral extrastriate α-activity probably reflects increased receptivity in the brain region specialized in processing upcoming target features. Our results add to current models on the role of α-oscillations in attention orienting by showing that α-enhancement and suppression can be dissociated in time, space, and perceptual relevance.

Abstract

We call those gestures “instrumental” that can enhance certain thinking processes of an agent by offering him representational models of his actions in a virtual space of imaginary performative possibilities. We argue that pointing is an instrumental gesture in that it represents geometrical information on one’s own gaze direction (i.e., a spatial model for attentional/ocular fixation/orientation), and provides a ritualized template for initiating gaze coordination and joint attention. We counter two possible objections, asserting respectively that the representational content of pointing is not constitutive, but derived from language, and that pointing directly solicits gaze coordination, without representing it. We consider two studies suggesting that attention and spatial perception are actively modified by one’s own pointing activity: the first study shows that pointing gestures help children link sets of objects to their corresponding number words; the second, that adults are faster and more accurate in counting when they point.

Abstract

Madagascar is located at the crossroads of the Asian and African worlds and is therefore of particular interest for studies on human population migration. Within the large human diversity of the Great Island, we focused our study on a particular ethnic group, the Antemoro. Their culture presents an important Arab-Islamic influence, but the question of an Arab biological inheritance remains unresolved. We analyzed paternal (n=129) and maternal (n=135) lineages of this ethnic group. Although the majority of Antemoro genetic ancestry comes from sub-Saharan African and Southeast Asian gene pools, we observed in their paternal lineages two specific haplogroups (J1 and T1) linked to Middle Eastern origins. This inheritance was restricted to some Antemoro sub-groups. Statistical analyses tended to confirm significant Middle Eastern genetic contribution. This study gives a new perspective to the large human genetic diversity in Madagascar

Abstract

Rapid response to danger holds an evolutionary advantage. In this positron emission tomography study, phobics were exposed to masked visual stimuli with timings that either allowed awareness or not of either phobic, fear-relevant (e.g., spiders to snake phobics), or neutral images. When the timing did not permit awareness, the amygdala responded to both phobic and fear-relevant stimuli. With time for more elaborate processing, phobic stimuli resulted in an addition of an affective processing network to the amygdala activity, whereas no activity was found in response to fear-relevant stimuli. Also, right prefrontal areas appeared deactivated, comparing aware phobic and fear-relevant conditions. Thus, a shift from top-down control to an affectively driven system optimized for speed was observed in phobic relative to fear-relevant aware processing.

Abstract

Derivational morphology is a cross-linguistically dominant mechanism for word formation, combining existing words with derivational affixes to create new word forms. However, the neurocognitive mechanisms underlying the representation and processing of such forms remain unclear. Recent cross-linguistic neuroimaging research suggests that derived words are stored and accessed as whole forms, without engaging the left-hemisphere perisylvian network associated with combinatorial processing of syntactically and inflectionally complex forms. Using fMRI with a “simple listening” no-task procedure, we reexamine these suggestions in the context of the root-based combinatorially rich Italian lexicon to clarify the role of semantic transparency (between the derived form and its stem) and affix productivity in determining whether derived forms are decompositionally represented and which neural systems are involved. Combined univariate and multivariate analyses reveal a key role for semantic transparency, modulated by affix productivity. Opaque forms show strong cohort competition effects, especially for words with nonproductive suffixes (ventura, “destiny”). The bilateral frontotemporal activity associated with these effects indicates that opaque derived words are processed as whole forms in the bihemispheric language system. Semantically transparent words with productive affixes (libreria, “bookshop”) showed no effects of lexical competition, suggesting morphologically structured co-representation of these derived forms and their stems, whereas transparent forms with nonproductive affixes (pineta, pine forest) show intermediate effects. Further multivariate analyses of the transparent derived forms revealed affix productivity effects selectively involving left inferior frontal regions, suggesting that the combinatorial and decompositional processes triggered by such forms can vary significantly across languages.

Abstract

Dyslexia is a highly heritable learning disorder with a complex underlying genetic architecture. Over the past decade, researchers have pinpointed a number of candidate genes that may contribute to dyslexia susceptibility. Here, we provide an overview of the state of the art, describing how studies have moved from mapping potential risk loci, through identification of associated gene variants, to characterization of gene function in cellular and animal model systems. Work thus far has highlighted some intriguing mechanistic pathways, such as neuronal migration, axon guidance, and ciliary biology, but it is clear that we still have much to learn about the molecular networks that are involved. We end the review by highlighting the past, present, and future contributions of the Dutch Dyslexia Programme to studies of genetic factors. In particular, we emphasize the importance of relating genetic information to intermediate neurobiological measures, as well as the value of incorporating longitudinal and developmental data into molecular designs

Abstract

Recent genome wide association scans (GWAS) for reading and language abilities have pin-pointed promising new candidate loci. However, the potential contributions of these loci remain to be validated. In the present study, we tested 17 of the most significantly associated single nucleotide polymorphisms (SNPs) from these GWAS studies (p < 10−6 in the original studies) in a new independent population dataset from the Netherlands: known as FIOLA (Familial Influences On Literacy Abilities). This dataset comprised 483 children from 307 nuclear families, plus 505 adults (including parents of participating children), and provided adequate statistical power to detect the effects that were previously reported. The following measures of reading and language performance were collected: word reading fluency, nonword reading fluency, phonological awareness, and rapid automatized naming. Two SNPs (rs12636438, rs7187223) were associated with performance in multivariate and univariate testing, but these did not remain significant after correction for multiple testing. Another SNP (rs482700) was only nominally associated in the multivariate test. For the rest of the SNPs we did not find supportive evidence of association. The findings may reflect differences between our study and the previous investigations in respects such as the language of testing, the exact tests used, and the recruitment criteria. Alternatively, most of the prior reported associations may have been false positives. A larger scale GWAS meta-analysis than those previously performed will likely be required to obtain robust insights into the genomic architecture underlying reading and language.

Abstract

This volume comprises refereed papers and abstracts of the 10th International Conference on the Evolution of Language (EVOLANGX), held in Vienna on 14–17th April 2014. As the leading international conference in the field, the biennial EVOLANG meeting is characterised by an invigorating, multidisciplinary approach to the origins and evolution of human language, and brings together researchers from many subject areas, including anthropology, archaeology, biology, cognitive science, computer science, genetics, linguistics, neuroscience, palaeontology, primatology and psychology. For this 10th conference, the proceedings will include a special perspectives section featuring prominent researchers reflecting on the history of the conference and its impact on the field of language evolution since the inaugural EVOLANG conference in 1996.

Abstract

We investigate children’s online predictive processing as it occurs naturally, in conversation. We showed 1–7 year-olds short videos of improvised conversation between puppets, controlling for available linguistic information through phonetic manipulation. Even one- and two-year-old children made accurate and spontaneous predictions about when a turn-switch would occur: they gazed at the upcoming speaker before they heard a response begin. This predictive skill relies on both lexical and prosodic information together, and is not tied to either type of information alone. We suggest that children integrate prosodic, lexical, and visual information to effectively predict upcoming linguistic material in conversation.

Abstract

A key part of learning to speak with others is figuring out when to start talking and how to hold the floor in conversation. For young children, the challenge of planning a linguistic response can slow down their response latencies, making misunderstanding, repair, and loss of the floor more likely. Like adults, children can mitigate their delays by using fillers (e.g., uh and um) at the start of their turns. In this chapter I analyze the onset and development of fillers in five children’s spontaneous speech from ages 1;6–3;6. My findings suggest that children start using fillers by 2;0, and use them to effectively mitigate delay in making a response.

Abstract

Young children answer questions with longer delays than adults do, and they don't reach typical adult response times until several years later. We hypothesized that this prolonged pattern of delay in children's timing results from competing demands: to give an answer, children must understand a question while simultaneously planning and initiating their response. Even as children get older and more efficient in this process, the demands on them increase because their verbal responses become more complex. We analyzed conversational question-answer sequences between caregivers and their children from ages 1;8 to 3;5, finding that children (1) initiate simple answers more quickly than complex ones, (2) initiate simple answers quickly from an early age, and (3) initiate complex answers more quickly as they grow older. Our results suggest that children aim to respond quickly from the start, improving on earlier-acquired answer types while they begin to practice later-acquired, slower ones.

Abstract

Conversation is a structured, joint action for which children need to learn a specialized set skills and conventions. Because conversation is a primary source of linguistic input, we can better grasp how children become active agents in their own linguistic development by studying their acquisition of conversational skills. In this chapter I review research on children’s turn-taking. This fundamental skill of human interaction allows children to gain feedback, make clarifications, and test hypotheses at every stage of development. I broadly review children’s conversational experiences, the types of turn-based contingency they must acquire, how they ask and answer questions, and when they manage to make timely responses

Abstract

Learning a specific skill during childhood may partly determine the functional organization of the adult brain. This hypothesis led us to study oral language processing in illiterate subjects who, for social reasons, had never entered school and had no knowledge of reading or writing. In a brain activation study using PET and statistical parametric mapping, we compared word and pseudoword repetition in literate and illiterate subjects. Our study confirms behavioural evidence of different phonological processing in illiterate subjects. During repetition of real words, the two groups performed similarly and activated similar areas of the brain. In contrast, illiterate subjects had more difficulty repeating pseudowords correctly and did not activate the same neural structures as literates. These results are consistent with the hypothesis that learning the written form of language (orthography) interacts with the function of oral language. Our results indicate that learning to read and write during childhood influences the functional organization of the adult human brain.

Abstract

Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379 bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband’s affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L_DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.

Abstract

Development of proficient spoken language skills is disrupted by mutations of the FOXP2 transcription factor. A heterozygous missense mutation in the KE family causes speech apraxia, involving difficulty producing words with complex learned sequences of syllables. Manipulations in songbirds have helped to elucidate the role of this gene in vocal learning, but findings in non-human mammals have been limited or inconclusive. Here we performed a systematic study of ultrasonic vocalizations (USVs) of adult male mice carrying the KE family mutation. Using novel statistical tools, we found that Foxp2 heterozygous mice did not have detectable changes in USV syllable acoustic structure, but produced shorter sequences and did not shift to more complex syntax in social contexts where wildtype animals did. Heterozygous mice also displayed a shift in the position of their rudimentary laryngeal motor cortex layer-5 neurons. Our findings indicate that although mouse USVs are mostly innate, the underlying contributions of FoxP2 to sequencing of vocalizations are conserved with humans.