Publications

Abstract

In English and Dutch, listeners entrain to prosodic contours to predict where focus will fall in an utterance. Here, we ask whether this strategy is universally available, even in languages with very different phonological systems (e.g., tone versus non-tone languages). In a phoneme detection experiment, we examined whether prosodic entrainment also occurs in Mandarin Chinese, a tone language, where the use of various suprasegmental cues to lexical identity may take precedence over their use in salience. Consistent with the results from Germanic languages, response times were facilitated when preceding intonation predicted high stress on the target-bearing word, and the lexical tone of the target word (i.e., rising versus falling) did not affect the Mandarin listeners' response. Further, the extent to which prosodic entrainment was used to detect the target phoneme was the same in both English and Mandarin listeners. Nevertheless, native Mandarin speakers did not adopt an entrainment strategy when the sentences were presented in English, consistent with the suggestion that L2 listening may be strained by additional functional load from prosodic processing. These findings have implications for how universal and language-specific mechanisms interact in the perception of focus structure in everyday discourse.

Abstract

A distinction between strong and weak vowels can be drawn on the basis of vowel quality, of stress, or of both factors. An experiment was conducted in which sets of contextually matched word-intial vowels ranging from clearly strong to clearly weak were cross-spliced, and the naturalness of the resulting words was rated by listeners. The ratings showed that in general cross-spliced words were only significantly less acceptable than unspliced words when schwa was not involved; this supports a categorical distinction based on vowel quality.

Abstract

Word-initial CVC syllables are detected faster in words beginning consonant-vowel-consonant-vowel (CVCV-) than in words beginning consonant-vowel-consonant-consonant (CVCC-). This effect was reported independently by M. Taft and G. Hambly (1985, Journal of Memory and Language, 24, 320–335) and by A. Cutler, J. Mehler, D. Norris, and J. Segui (1986, Journal of Memory and Language, 25, 385–400). Taft and Hambly explained the effect in terms of lexical factors. This explanation cannot account for Cutler et al.'s results, in which the effect also appeared with nonwords and foreign words. Cutler et al. suggested that CVCV-sequences might simply be easier to perceive than CVCC-sequences. The present study confirms this suggestion, and explains it as a reflection of listener expectations constructed on the basis of distributional characteristics of the language.

Abstract

Previous research has shown that listeners use the prosodic structure of utterances in a predictive fashion in sentence comprehension, to direct attention to accented words. Acoustically identical words spliced into sentence contexts arc responded to differently if the prosodic structure of the context is \ aricd: when the preceding prosody indicates that the word will he accented, responses are faster than when the preceding prosodv is inconsistent with accent occurring on that word. In the present series of experiments speech hybridisation techniques were first used to interchange the timing patterns within pairs of prosodic variants of utterances, independently of the pitch and intensity contours. The time-adjusted utterances could then serve as a basis lor the orthogonal manipulation of the three prosodic dimensions of pilch, intensity and rhythm. The overall pattern of results showed that when listeners use prosody to predict accent location, they do not simply rely on a single prosodic dimension, hut exploit the interaction between pitch, intensity and rhythm.

Abstract

Previous research has shown that, in a phoneme detection task, vowels produce longer reaction times than consonants, suggesting that they are harder to perceive. One possible explanation for this difference is based upon their respective acoustic/articulatory characteristics. Another way of accounting for the findings would be to relate them to the differential functioning of vowels and consonants in the syllabic structure of words. In this experiment, we examined the second possibility. Targets were two pairs of phonemes, each containing a vowel and a consonant with similar phonetic characteristics. Subjects heard lists of English words had to press a response key upon detecting the occurrence of a pre-specified target. This time, the phonemes which functioned as vowels in syllabic structure yielded shorter reaction times than those which functioned as consonants. This rules out an explanation for response time difference between vowels and consonants in terms of function in syllable structure. Instead, we propose that consonantal and vocalic segments differ with respect to variability of tokens, both in the acoustic realisation of targets and in the representation of targets by listeners.

Abstract

Speech signals originate as a sequence of linguistic units selected by speakers, but these units are necessarily realised in the suprasegmental dimensions of time, frequency and amplitude. For this reason prosodic structure has been viewed as a mandatory target of language processing by both speakers and listeners. In apparent contradiction, however, prosody has also been argued to be ancillary rather than core linguistic structure, making processing of prosodic structure essentially optional. In the present tribute to one of the luminaries of prosodic research for the past quarter century, we review evidence from studies of the processing of lexical stress and focal accent which reconciles these views and shows that both claims are, each in their own way, fully true.

Abstract

Vocabularies contain hundreds of thousands of words built from only a handful of phonemes; longer words inevitably tend to contain shorter ones. Recognising speech thus requires distinguishing intended words from accidentally present ones. Acoustic information in speech is used wherever it contributes significantly to this process; but as this review shows, its contribution differs across languages, with the consequences of this including: identical and equivalently present information distinguishing the same phonemes being used in Polish but not in German, or in English but not in Italian; identical stress cues being used in Dutch but not in English; expectations about likely embedding patterns differing across English, French, Japanese.

Abstract

English and French listeners performed two tasks - click location and speeded click detection - with both English and French sentences, closely matched for syntactic and phonological structure. Clicks were located more accurately in open- than in closed-class words in both English and French; they were detected more rapidly in open- than in closed-class words in English, but not in French. The two listener groups produced the same pattern of responses, suggesting that higher-level linguistic processing was not involved in these tasks.

Abstract

Two lexical decision experiments in Cantonese are described in which the recognition of spoken target words as a function of phonological similarity to a preceding prime is investigated. Phonological similaritv in first syllables produced inhibition, while similarity in second syllables led to facilitation. Differences between syllables in tonal and segmental structure had generally similar effects.

Abstract

Speakers and listeners have a shared goal: to communicate. The processes of speech perception and of speech production interact in many ways under the constraints of this communicative goal; such interaction is as characteristic of prosodic processing as of the processing of other aspects of linguistic structure. Two of the major uses of prosodic information in situations of communication are to encode salience and segmentation, and these themes unite the contributions to the symposium introduced by the present review.

Abstract

Speech production is constrained at all levels by the demands of speech perception. The speaker's primary aim is successful communication, and to this end semantic, syntactic and lexical choices are directed by the needs of the listener. Even at the articulatory level, some aspects of production appear to be perceptually constrained, for example the blocking of phonological distortions under certain conditions. An apparent exception to this pattern is word boundary information, which ought to be extremely useful to listeners, but which is not reliably coded in speech. It is argued that the solution to this apparent problem lies in rethinking the concept of the boundary of the lexical access unit. Speech rhythm provides clear information about the location of stressed syllables, and listeners do make use of this information. If stressed syllables can serve as the determinants of word lexical access codes, then once again speakers are providing precisely the necessary form of speech information to facilitate perception.

Abstract

This chapter highlights that most language behavior consists of speaking and listening. The chapter also reveals differences and similarities between speaking and listening. The laboratory study of word production raises formidable problems; ensuring that a particular word is produced may subvert the spontaneous production process. Word production is investigated via slips and tip-of-the-tongue (TOT), primarily via instances of processing failure and via the technique of via the picture-naming task. The methodology of word production is explained in the chapter. The chapter also explains the phenomenon of interaction between various stages of word production and the process of speech recognition. In this context, it explores the difference between sound and meaning and examines whether or not the comparisons are appropriate between the processes of recognition and production of spoken words. It also describes the similarities and differences in the structure of the recognition and production systems. Finally, the chapter highlights the common issues in recognition and production research, which include the nuances of frequency of occurrence, morphological structure, and phonological structure.

Abstract

The performance of automatic speech recognition systems is usually assessed in terms of error rate. Human speech recognition produces few errors, but relative difficulty of processing can be assessed via response time techniques. We report the construction of a measure analogous to response time in a machine recognition system. This measure may be compared directly with human response times. We conducted a trial comparison of this type at the phoneme level, including both tense and lax vowels and a variety of consonant classes. The results suggested similarities between human and machine processing in the case of consonants, but differences in the case of vowels.

Abstract

Segmentation of continuous speech into its component words is a nontrivial task for listeners. Previous work has suggested that listeners develop heuristic segmentation procedures based on experience with the structure of their language; for English, the heuristic is that strong syllables (containing full vowels) are most likely to be the initial syllables of lexical words, whereas weak syllables (containing central, or reduced, vowels) are nonword-initial, or, if word-initial, are grammatical words. This hypothesis is here tested against natural and laboratory-induced missegmentations of continuous speech. Precisely the expected pattern is found: listeners erroneously insert boundaries before strong syllables but delete them before weak syllables; boundaries inserted before strong syllables produce lexical words, while boundaries inserted before weak syllables produce grammatical words.

Abstract

Studies of human speech processing have provided evidence for a segmentation strategy in the perception of continuous speech, whereby a word boundary is postulated, and a lexical access procedure initiated, at each metrically strong syllable. The likely success of this strategy was here estimated against the characteristics of the English vocabulary. Two computerized dictionaries were found to list approximately three times as many words beginning with strong syllables (i.e. syllables containing a full vowel) as beginning with weak syllables (i.e. syllables containing a reduced vowel). Consideration of frequency of lexical word occurrence reveals that words beginning with strong syllables occur on average more often than words beginning with weak syllables. Together, these findings motivate an estimate for everyday speech recognition that approximately 85% of lexical words (i.e. excluding function words) will begin with strong syllables. This estimate was tested against a corpus of 190 000 words of spontaneous British English conversion. In this corpus, 90% of lexical words were found to begin with strong syllables. This suggests that a strategy of postulating word boundaries at the onset of strong syllables would have a high success rate in that few actual lexical word onsets would be missed.

Abstract

Monolingual French speakers employ a syllable-based procedure in speech segmentation; monolingual English speakers use a stress-based segmentation procedure and do not use the syllable-based procedure. In the present study French-English bilinguals participated in segmentation experiments with English and French materials. Their results as a group did not simply mimic the performance of English monolinguals with English language materials and of French monolinguals with French language materials. Instead, the bilinguals formed two groups, defined by forced choice of a dominant language. Only the French-dominant group showed syllabic segmentation and only with French language materials. The English-dominant group showed no syllabic segmentation in either language. However, the English-dominant group showed stress-based segmentation with English language materials; the French-dominant group did not. We argue that rhythmically based segmentation procedures are mutually exclusive, as a consequence of which speech segmentation by bilinguals is, in one respect at least, functionally monolingual.

Abstract

In languages with variable stress placement, lexical stress patterns can convey information about word identity. The experiments reported here address the question of whether lexical stress information can be used in word recognition. The results allow the following conclusions: 1. Prior information as to the number of syllables and lexical stress patterns of words and nonwords does not facilitate lexical decision responses (Experiment 1). 2. The strong correspondences between grammatical category membership and stress pattern in bisyllabic English words (strong-weak stress being associated primarily with nouns, weak-strong with verbs) are not exploited in the recognition of isolated words (Experiment 2). 3. When a change in lexical stress also involves a change in vowel quality, i.e., a segmental as well as a suprasegmental alteration, effects on word recognition are greater when no segmental correlates of suprasegmental changes are involved (Experiments 2 and 3). 4. Despite the above finding, when all other factors are controlled, lexical stress information per se can indeed be shown to play a part in word-recognition process (Experiment 3).

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

We investigated whether readers use the low-level cue of proper noun capitalization in the parafovea to infer syntactic category, and whether this results in an early update of the representation of a sentence’s syntactic structure. Participants read sentences containing either a subject relative or object relative clause, in which the relative clause’s overt argument was a proper noun (e.g., The tall lanky guard who alerted Charlie/Charlie alerted to the danger was young) across three experiments. In Experiment 1 these sentences were presented in normal sentence casing or entirely in upper case. In Experiment 2 participants received either valid or invalid parafoveal previews of the relative clause. In Experiment 3 participants viewed relative clauses in only normal conditions. We hypothesized that we would observe relative clause effects (i.e., inflated fixation times for object relative clauses) while readers were still fixated on the word who, if readers use capitalization to infer a parafoveal word’s syntactic class. This would constitute a syntactic parafoveal-on-foveal effect. Furthermore, we hypothesised that this effect should be influenced by sentence casing in Experiment 1 (with no cue for syntactic category being available in upper case sentences) but not by parafoveal preview validity of the target words. We observed syntactic parafoveal-on-foveal effects in Experiment 1 and 3, and a Bayesian analysis of the combined data from all three experiments. These effects seemed to be influenced more by noun capitalization than lexical processing. We discuss our findings in relation to models of eye movement control and sentence processing theories.

Abstract

In two eye-tracking studies we investigated whether readers can detect a violation of the phonological-grammatical convention for the indefinite article an to be followed by a word beginning with a vowel when these two words appear in the parafovea. Across two experiments participants read sentences in which the word an was followed by a parafoveal preview that was either correct (e.g. Icelandic), incorrect and represented a phonological violation (e.g. Mongolian), or incorrect without representing a phonological violation (e.g. Ethiopian), with this parafoveal preview changing to the target word as participants made a saccade into the space preceding an. Our data suggests that participants detected the phonological violation while the target word was still two words to the right of fixation, with participants making more regressions from the previewed word and having longer go-past times on this word when they received a violation preview as opposed to a non-violation preview. We argue that participants were attempting to perform aspects of sentence integration on the basis of low-level orthographic information from the previewed word.

Abstract

We present an eye-tracking study testing a hypothesis emerging from several theories of prediction during language processing, whereby predictable words should be skipped more than unpredictable words even in syntactically illegal positions. Participants read sentences in which a target word became predictable by a certain point (e.g., “bone” is 92% predictable given, “The dog buried his. . .”), with the next word actually being an intensifier (e.g., “really”), which a noun cannot follow. The target noun remained predictable to appear later in the sentence. We used the boundary paradigm to present the predictable noun or an alternative unpredictable noun (e.g., “food”) directly after the intensifier, until participants moved beyond the intensifier, at which point the noun changed to a syntactically legal word. Participants also read sentences in which predictable or unpredictable nouns appeared in syntactically legal positions. A Bayesian linear-mixed model suggested a 5.7% predictability effect on skipping of nouns in syntactically legal positions, and a 3.1% predictability effect on skipping of nouns in illegal positions. We discuss our findings in relation to theories of lexical prediction during reading.

Abstract

Recent advances in large-scale data storage and processing offer unprecedented opportunities for behavioral scientists to collect and analyze naturalistic data, including from under-represented groups. Audio data, particularly real-world audio recordings, are of particular interest to behavioral scientists because they provide high-fidelity access to subtle aspects of daily life and social interactions. However, these methodological advances pose novel risks to research participants and communities. In this article, we outline the benefits and challenges associated with collecting, analyzing, and sharing multi-hour audio recording data. Guided by the principles of autonomy, privacy, beneficence, and justice, we propose a set of ethical guidelines for the use of longform audio recordings in behavioral research. This article is also accompanied by an Open Science Framework Ethics Repository that includes informed consent resources such as frequent participant concerns and sample consent forms.

Abstract

Different linguistic structures allow us to highlight distinct aspects of a situation. The aim of this survey is to investigate similarities and differences in the expression of situations or events as “stative” (maintaining a state), “inchoative” (adopting a state) and “agentive” (causing something to be in a state). The questionnaire focuses on the encoding of stative, inchoative and agentive possibilities for the translation equivalents of a set of English verbs.

Abstract

Expressions of human activities and states are a rich area for cross-linguistic comparison. Some languages of the world treat human posture verbs (e.g., sit, lie, kneel) as a special class of predicates, with distinct formal properties. This survey examines lexical, semantic and grammatical patterns for posture verbs, with special reference to contrasts between “stative” (maintaining a posture), “inchoative” (adopting a posture), and “agentive” (causing something to adopt a posture) constructions. The enquiry is thematically linked to the more general questionnaire 'Intransitive Predicate Form Class Survey'.

Abstract

This work was supported by grants from the French Agence Nationale de la Recherche (ANR-2010-BLAN-1901) and from French Fondation de France to Anne Christophe, from the National Institute of Child Health and Human Development (HD054448) to Cynthia Fisher, Fondation Fyssen and Ecole de Neurosciences de Paris to Alex Cristia, and a PhD fellowship from the Direction Générale de l'Armement (DGA, France) supported by the PhD program FdV (Frontières du Vivant) to Isabelle Dautriche. We thank Isabelle Brunet for the recruitment, Michel Dutat for the technical support, and Hernan Anllo for his puppet mastery skill. We are grateful to the families that participated in this study. We also thank two anonymous reviewers for their comments on an earlier draft of this manuscript.

Abstract

The ability to make inferences is essential for effective language comprehension. While inferencing training benefits reading comprehension in school-aged children (see Elleman, 2017, for a review), we do not yet know whether it is beneficial to support the development of these skills prior to school entry. In a pre-registered randomised controlled trial, we evaluated the efficacy of a parent-delivered intervention intended to promote four-year-olds’ oral inferencing skills during shared book-reading. One hundred children from socioeconomically diverse backgrounds were randomly assigned to inferencing training or an active control condition of daily maths activities. The training was found to have no effect on inferencing. However, inferencing measures were highly correlated with children's baseline language ability. This suggests that a more effective approach to scaffolding inferencing in the preschool years might be to focus on promoting vocabulary to develop richer and stronger semantic networks.

Abstract

This article surveys what is currently known about the complex interplay between genetics and the language sciences. It focuses not only on the genetic architecture of language and speech, but also on their interactions on the cultural and evolutionary timescales. Given the complexity of these issues and their current state of flux and high dynamism, this article surveys the main findings and topics of interest while also briefly introducing the main relevant methods, thus allowing the interested reader to fully appreciate and understand them in their proper context. Of course, not all the relevant publications and resources are mentioned, but this article aims to select the most relevant, promising, or accessible for nonspecialists.

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

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

There is an ongoing debate about whether discourse biases can constrain sentence
processing. Previous work has shown comprehension question accuracy to decrease
for temporarily ambiguous sentences preceded by a context biasing towards an initial
misinterpretation, suggesting a role of context for modulating comprehension.
However, this creates limited modulation of reading times at the disambiguating word,
suggesting initial syntactic processing may be unaffected by context [Christianson &
Luke, 2011. Context strengthens initial misinterpretations of text. Scientific Studies of
Reading, 15(2), 136–166]. The current experiments examine whether propositional and
structural content from preceding comprehension questions can cue readers to expect
certain structures in temporarily ambiguous garden-path sentences. The central finding
is that syntactic repair processes remain unaffected while reading times in other
regions are modulated by preceding questions. This suggests that reading strategies
can be superficially influenced by preceding comprehension questions without
impacting the fidelity of ultimate (mis)representations.

Abstract

Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.

Abstract

Assays based on Bioluminescence Resonance Energy Transfer (BRET) provide a sensitive and reliable means to monitor protein-protein interactions in live cells. BRET is the non-radiative transfer of energy from a ‘donor’ luciferase enzyme to an ‘acceptor’ fluorescent protein. In the most common configuration of this assay, the donor is Renilla reniformis luciferase and the acceptor is Yellow Fluorescent Protein (YFP). Because the efficiency of energy transfer is strongly distance-dependent, observation of the BRET phenomenon requires that the donor and acceptor be in close proximity. To test for an interaction between two proteins of interest in cultured mammalian cells, one protein is expressed as a fusion with luciferase and the second as a fusion with YFP. An interaction between the two proteins of interest may bring the donor and acceptor sufficiently close for energy transfer to occur. Compared to other techniques for investigating protein-protein interactions, the BRET assay is sensitive, requires little hands-on time and few reagents, and is able to detect interactions which are weak, transient, or dependent on the biochemical environment found within a live cell. It is therefore an ideal approach for confirming putative interactions suggested by yeast two-hybrid or mass spectrometry proteomics studies, and in addition it is well-suited for mapping interacting regions, assessing the effect of post-translational modifications on protein-protein interactions, and evaluating the impact of mutations identified in patient DNA.

Abstract

Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the mounting evidence for RORa in autism spectrum disorders (ASD) and MIR137 in schizophrenia and ASD, we investigated if there was a functional biological relationship between these two genes. Herein, we demonstrate that miR-137 targets the 3'UTR of RORa in a site specific manner. We also provide further support for MIR137 as an autism candidate by showing that a large number of previously implicated autism genes are also putatively targeted by miR-137. This work supports the role of MIR137 as an ASD candidate and demonstrates a direct biological link between these previously unrelated autism candidate genes

Abstract

FOXP2 was the first gene shown to cause a Mendelian form of speech and language disorder. Although developmentally expressed in many organs, loss of a single copy of FOXP2 leads to a phenotype that is largely restricted to orofacial impairment during articulation and linguistic processing deficits. Why perturbed FOXP2 function affects specific aspects of the developing brain remains elusive. We investigated the role of FOXP2 in neuronal differentiation and found that FOXP2 drives molecular changes consistent with neuronal differentiation in a human model system. We identified a network of FOXP2 regulated genes related to retinoic acid signaling and neuronal differentiation. FOXP2 also produced phenotypic changes associated with neuronal differentiation including increased neurite outgrowth and reduced migration. Crucially, cells expressing FOXP2 displayed increased sensitivity to retinoic acid exposure. This suggests a mechanism by which FOXP2 may be able to increase the cellular differentiation response to environmental retinoic acid cues for specific subsets of neurons in the brain. These data demonstrate that FOXP2 promotes neuronal differentiation by interacting with the retinoic acid signaling pathway and regulates key processes required for normal circuit formation such as neuronal migration and neurite outgrowth. In this way, FOXP2, which is found only in specific subpopulations of neurons in the brain, may drive precise neuronal differentiation patterns and/or control localization and connectivity of these FOXP2 positive cells

Abstract

This chapter discusses the genetic foundations of the human capacity for language. It reviews the molecular structure of the genome and the complex molecular mechanisms that allow genetic information to influence multiple levels of biology. It goes on to describe the active regulation of genes and their formation of complex genetic pathways that in turn control the cellular environment and function. At each of these levels, examples of genes and genetic variants that may influence the human capacity for language are given. Finally, it discusses the value of using animal models to understand the genetic underpinnings of speech and language. From this chapter will emerge the complexity of the genome in action and the multidisciplinary efforts that are currently made to bridge the gap between genetics and language.

Abstract

Do interlocutors adjust their conversational strategies to the specific contextual demands of a given situation? Prior studies have yielded conflicting results, making it unclear how strategies vary with demands. We combine insights from qualitative and quantitative approaches in a within-participant experimental design involving two different contexts: spontaneously occurring conversations (SOC) and task-oriented conversations (TOC). We systematically assess backchanneling, other-repair and linguistic alignment. We find that SOC exhibit a higher number of backchannels, a reduced and more generic repair format and higher rates of lexical and syntactic alignment. TOC are characterized by a high number of specific repairs and a lower rate of lexical and syntactic alignment. However, when alignment occurs, more linguistic forms are aligned. The findings show that conversational strategies adapt to specific contextual demands.

Abstract

Als je wereldwijd gesprekken beluistert, merk je dat de menselijke dialoog universele regels volgt. Die sturen en verrijken onze sociale interactie.

Abstract

While speculations on form–meaning resemblances in language go back millennia, the experimental study of iconicity is only about a century old. Here we take stock of experimental work on iconicity and present a double special issue with a diverse set of new contributions. We contextualise the work by introducing a typology of approaches to iconicity in language. Some approaches construe iconicity as a discrete property that is either present or absent; others treat it as involving semiotic relationships that come in kinds; and yet others see it as a gradient substance that comes in degrees. We show the benefits and limitations that come with each of these construals and stress the importance of developing accounts that can fluently switch between them. With operationalisations of iconicity that are well defined yet flexible enough to deal with differences in tasks, modalities, and levels of analysis, experimental research on iconicity is well equipped to contribute to a comprehensive science of language.

Abstract

Resource-rational approaches offer much promise for understanding human cognition, especially if they can reach beyond the confines of individual minds. Language allows people to transcend individual resource limitations by augmenting computation and enabling distributed cognition. Interactive language use, an environment where social rational agents routinely deal with resource constraints together, offers a natural laboratory to test resource-rationality in the wild.

Abstract

When people talk, they recruit a wide range of expressive devices for interactional work, from sighs, sniffs, clicks, and whistles to other conduct that borders on the linguistic. These resources represent some of the more elusive yet no less powerful aspects of the interactional machinery as they are used in the management of turn and sequence and the marking of stance and affect. Phenomena long assumed to be beyond the purview of linguistic inquiry emerge as systematically deployed practices whose ambiguous degree of control and convention allows participants to carry out subtle interactional work without committing to specific words. While these resources have been characterised as non-lexical, non-verbal, or non-conventional, I propose they are unified in their liminality: they work well precisely because they equivocate between sound and speech. The empirical study of liminal signs shows the promise of sequential analysis for building a science of language on interactional foundations.

Abstract

Aktuelle Vorstellungen von Gehirn-zu-Gehirn-Schnittstellen versprechen, die Sprache zu umgehen. Aber wenn wir sie verfeinern, um ihr kollaboratives Potenzial voll auszuschöpfen, sehen wir Sprache — oder zumindest ein sprachähnliches Infrastruktur für Kommunika­tion und Koordination — durch die Hintertür wieder hereinkommen. Es wäre nicht das erste Mal, dass sich die Sprache neu erfindet.

Current conceptions of brain-to-brain interfaces attempt to bypass language. But when we refine them to more fully realise their collaborative potential we find language —or at least a language-like infrastructure for communication and coordination— slipping through the back door. It wouldn't be the first time that language reinvented itself.

Abstract

This chapter makes the case for ‘ideophone’ as a comparative concept: a notion that captures a recurrent typological pattern and provides a template for understanding language-specific phenomena that prove similar. It revises an earlier definition to account for the observation that ideophones typically form an open lexical class, and uses insights from canonical typology to explore the larger typological space. According to the resulting definition, a canonical ideophone is a member of an open lexical class of marked words that depict sensory imagery. The five elements of this definition can be seen as dimensions that together generate a possibility space to characterise cross-linguistic diversity in depictive means of expression. This approach allows for the systematic comparative treatment of ideophones and ideophone-like phenomena. Some phenomena in the larger typological space are discussed to demonstrate the utility of the approach: phonaesthemes in European languages, specialised semantic classes in West-Chadic, diachronic diversions in Aslian, and depicting constructions in signed languages.

Abstract

In conversation, people have to deal with problems of speaking, hearing, and understanding. We report on a cross-linguistic investigation of the conversational structure of other-initiated repair (also known as collaborative repair, feedback, requests for clarification, or grounding sequences). We take stock of formats for initiating repair across languages (comparable to English huh?, who?, y’mean X?, etc.) and find that different languages make available a wide but remarkably similar range of linguistic resources for this function. We exploit the patterned variation as evidence for several underlying concerns addressed by repair initiation: characterising trouble, managing responsibility, and handling knowledge. The concerns do not always point in the same direction and thus provide participants in interaction with alternative principles for selecting one format over possible others. By comparing conversational structures across languages, this paper contributes to pragmatic typology: the typology of systems of language use and the principles that shape them

Abstract

Ideophones are found in many of the world’s languages. Though they are a major word class on a par with nouns and verbs, their origins are ill-understood, and the question of ideophone creation has been a source of controversy. This paper studies ideophone creation in naturally occurring speech. New, unconventionalised ideophones are identified using native speaker judgements, and are studied in context to understand the rules and regularities underlying their production and interpretation. People produce and interpret new ideophones with the help of the semiotic infrastructure that underlies the use of existing ideophones: foregrounding frames certain stretches of speech as depictive enactments of sensory imagery, and various types of iconicity link forms and meanings. As with any creative use of linguistic resources, context and common ground also play an important role in supporting rapid ‘good enough’ interpretations of new material. The making of new ideophones is a special case of a more general phenomenon of creative depiction: the art of presenting verbal material in such a way that the interlocutor recognises and interprets it as a depiction.

Abstract

Recent developments in the science of language signal the emergence of a new paradigm for language study: a social approach to the fundamental questions of what language is like, how much languages really have in common, and why only our species has it. The key to these developments is a new appreciation of the need to study everyday spoken language, with all its complications and ‘imperfections’, in a systematic way. The work reviewed in this article —on turn-taking, timing, and other-initiated repair in languages around the world— has important implications for our understanding of human sociality and sheds new light on the social shape of language. For the first time in the history of linguistics, we are no longer tied to what can be written down or thought up. Rather, we look at language as a biologist would: as it occurs in nature.

Abstract

Doing things for and with others is one of the foundations of human social life. This chapter studies a systematic collection of 207 requests for assistance and collaboration from a video corpus of everyday conversations in Siwu, a Kwa language of Ghana. A range of social action formats and semiotic resources reveals how language is adapted to the interactional challenges posed by recruiting assistance. While many of the formats bear a language-specific signature, their sequential and interactional properties show important commonalities across languages. Two tentative findings are put forward for further cross-linguistic examination: a “rule of three” that may play a role in the organisation of successive response pursuits, and a striking commonality in animal-oriented recruitments across languages that may be explained by convergent cultural evolution. The Siwu recruitment system emerges as one instance of a sophisticated machinery for organising collaborative action that transcends language and culture.

Abstract

Words like ‘waddle’, ‘flop’ and ‘zigzag’ combine playful connotations with iconic form-meaning resemblances. Here we propose that structural markedness may be a common factor underlying perceptions of playfulness and iconicity. Using collected and estimated lexical ratings covering a total of over 70,000 English words, we assess the robustness of this assocation. We identify cues of phonotactic complexity that covary with funniness and iconicity ratings and that, we propose, serve as metacommunicative signals to draw attention to words as playful and performative. To assess the generalisability of the findings we develop a method to estimate lexical ratings from distributional semantics and apply it to a dataset 20 times the size of the original set of human ratings. The method can be used more generally to extend coverage of lexical ratings. We find that it reliably reproduces correlations between funniness and iconicity as well as cues of structural markedness, though it also amplifies biases present in the human ratings. Our study shows that the playful and the poetic are part of the very texture of the lexicon.

Abstract

To what extent are links between musical pitch and space universal, and to what extent are they shaped by
language? There is contradictory evidence in support of both universality and linguistic relativity presently,
leaving the question open. To address this, speakers of Dutch who talk about pitch in terms of spatial height and
speakers of Turkish who use a thickness metaphor were tested in simple nonlinguistic space-pitch association
tasks. Both groups showed evidence of a thickness-pitch association, but differed significantly in their heightpitch
associations, suggesting the latter may be more susceptible to language. When participants had to match
pitches to spatial stimuli where height and thickness were opposed (i.e., a thick line high in space vs. a thin line
low in space), Dutch and Turkish differed in their relative preferences. Whereas Turkish participants predominantly
opted for a thickness-pitch interpretation—even if this meant a reversal of height-pitch
mappings—Dutch participants favored a height-pitch interpretation more often. These findings provide new
evidence that speakers of different languages vary in their space-pitch associations, while at the same time
showing such associations are not equally susceptible to linguistic influences. Some space-pitch (i.e., heightpitch)
associations are more malleable than others (i.e., thickness-pitch).

Abstract

People often talk about musical pitch using spatial metaphors. In English, for instance, pitches can be “high” or “low” (i.e., height-pitch association), whereas in other languages, pitches are described as “thin” or “thick” (i.e., thickness-pitch association). According to results from psychophysical studies, metaphors in language can shape people’s nonlinguistic space-pitch representations. But does language establish mappings between space and pitch in the first place, or does it only modify preexisting associations? To find out, we tested 4-month-old Dutch infants’ sensitivity to height-pitch and thickness-pitch mappings using a preferential-looking paradigm. The infants looked significantly longer at cross-modally congruent stimuli for both space-pitch mappings, which indicates that infants are sensitive to these associations before language acquisition. The early presence of space-pitch mappings means that these associations do not originate from language. Instead, language builds on preexisting mappings, changing them gradually via competitive associative learning. Space-pitch mappings that are language-specific in adults develop from mappings that may be universal in infants.

Abstract

Numerous experiments show that space and musical pitch are
closely linked in people's minds. However, the exact nature of
space-pitch associations and their neuronal underpinnings are
not well understood. In an fMRI experiment we investigated
different types of spatial representations that may underlie
musical pitch. Participants judged stimuli that varied in
spatial height in both the visual and tactile modalities, as well
as auditory stimuli that varied in pitch height. In order to
distinguish between unimodal and multimodal spatial bases of
musical pitch, we examined whether pitch activations were
present in modality-specific (visual or tactile) versus
multimodal (visual and tactile) regions active during spatial
height processing. Judgments of musical pitch were found to
activate unimodal visual areas, suggesting that space-pitch
associations may involve modality-specific spatial
representations, supporting a key assumption of embodied
theories of metaphorical mental representation.

Abstract

Research on infants’ online lexical processing by Fernald, Perfors, and Marchman (2006) revealed substantial individual differences that are related to vocabulary development, such that infants with better lexical processing efficiency show greater vocabulary growth across time. Although it is clear that individual differences in lexical processing efficiency exist and are meaningful, the theoretical nature of lexical processing efficiency and its relation to vocabulary size is less clear. In the current study, we asked two questions: (a) Is lexical processing efficiency better conceptualized as a central processing capacity or as an emergent capacity reflecting a collection of word-specific capacities? and (b) Is there evidence for a causal role for lexical processing efficiency in early vocabulary development? In the study, 120 infants were tested on a measure of lexical processing at 18, 21, and 24 months, and their vocabulary was measured via parent report. Structural equation modeling of the 18-month time point data revealed that both theoretical constructs represented in the first question above (a) fit the data. A set of regression analyses on the longitudinal data revealed little evidence for a causal effect of lexical processing on vocabulary but revealed a significant effect of vocabulary size on lexical processing efficiency early in development. Overall, the results suggest that lexical processing efficiency is a stable construct in infancy that may reflect the structure of the developing lexicon.

Abstract

Humans readily generalize, applying prior knowledge to novel situations and stimuli. Advances in machine learning have begun to approximate and even surpass human performance, but these systems struggle to generalize what they have learned to untrained situations. We present a model based on wellestablished neurocomputational principles that demonstrates human-level generalisation. This model is trained to play one video game (Breakout) and performs one-shot generalisation to a new game (Pong) with different characteristics. The model
generalizes because it learns structured representations that are functionally symbolic (viz., a role-filler binding calculus) from unstructured training data. It does so without feedback, and without requiring that structured representations are specified a priori. Specifically, the model uses neural co-activation to discover which characteristics of the input are invariant and to learn relational predicates, and oscillatory regularities in network firing to bind predicates to arguments. To our knowledge,
this is the first demonstration of human-like generalisation in a machine system that does not assume structured representa-
tions to begin with.

Abstract

Reading and language abilities are critical for educational achievement and success in adulthood. Variation in these traits is highly heritable, but the underlying genetic architecture is largely undiscovered. Genetic studies of reading and language skills traditionally focus on children with developmental disorders; however, much larger unselected adult samples are available, increasing power to identify associations with specific genetic variants of small effect size. We introduce an Australian adult population cohort (41.7–73.2 years of age, N = 1505) in which we obtained data using validated measures of several aspects of reading and language abilities. We performed genetic association analysis for a reading and spelling composite score, nonword reading (assessing phonological processing: a core component in learning to read), phonetic spelling, self-reported reading impairment and nonword repetition (a marker of language ability). Given the limited power in a sample of this size (~80% power to find a minimum effect size of 0.005), we focused on analyzing candidate genes that have been associated with dyslexia and developmental speech and language disorders in prior studies. In gene-based tests, FOXP2, a gene implicated in speech/language disorders, was associated with nonword repetition (p < .001), phonetic spelling (p = .002) and the reading and spelling composite score (p < .001). Gene-set analyses of candidate dyslexia and speech/language disorder genes were not significant. These findings contribute to the assessment of genetic associations in reading and language disorders, crucial for understanding their etiology and informing intervention strategies, and validate the approach of using unselected adult samples for gene discovery in language and reading.

Abstract

Most objects have well-defined affordances. Investigating perception of affordances of objects that were not created for a specific purpose would provide insight into how affordances are perceived. In addition, comparison of perception of affordances for such objects across different exploratory modalities (visual vs. haptic) would offer a strong test of the lawfulness of information about affordances (i.e., the invariance of such information over transformation). Along these lines, “feelies”— objects created by Gibson with no obvious function and unlike any common object—could shed light on the processes underlying affordance perception. This study showed that when observers reported potential uses for feelies, modality significantly influenced what kind of affordances were perceived. Specifically, visual exploration resulted in more noun labels (e.g., “toy”) than haptic exploration which resulted in more verb labels (i.e., “throw”). These results suggested that overlapping, but distinct classes of action possibilities are perceivable using vision and haptics. Semantic network analyses revealed that visual exploration resulted in object-oriented responses focused on object identification, whereas haptic exploration resulted in action-oriented responses. Cluster analyses confirmed these results. Affordance labels produced in the visual condition were more consistent, used fewer descriptors, were less diverse, but more novel than in the haptic condition.

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

Native listeners benefit from both visible speech and iconic gestures to enhance degraded speech comprehension (Drijvers & Ozyürek, 2017). We tested how highly proficient non-native listeners benefit from these visual articulators compared to native listeners. We presented videos of an actress uttering a verb in clear, moderately, or severely degraded speech, while her lips were blurred, visible, or visible and accompanied by a gesture. Our results revealed that unlike native listeners, non-native listeners were less likely to benefit from the combined enhancement of visible speech and gestures, especially since the benefit from visible speech was minimal when the signal quality was not sufficient.

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

Previous studies have demonstrated that native listeners
modify their interpretation of a speech sound when a talker
produces an ambiguous sound in order to quickly tune into a
speaker, but there is hardly any evidence that non-native
listeners employ a similar mechanism when encountering
ambiguous pronunciations. So far, one study demonstrated
this lexically-guided perceptual learning effect for nonnatives,
using phoneme categories similar in the native
language of the listeners and the non-native language of the
stimulus materials. The present study investigates the question
whether phoneme category retuning is possible in a nonnative
language for a contrast, /l/-/r/, which is phonetically
differently embedded in the native (Dutch) and nonnative
(English) languages involved. Listening experiments indeed
showed a lexically-guided perceptual learning effect.
Assuming that Dutch listeners have different phoneme
categories for the native Dutch and non-native English /r/, as
marked differences between the languages exist for /r/, these
results, for the first time, seem to suggest that listeners are not
only able to retune their native phoneme categories but also
their non-native phoneme categories to include ambiguous
pronunciations.

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

Since the late 1990s, the technical group at the Max-Planck-Institute for Psycholinguistics has worked on solutions for important challenges in building sustainable data archives, in particular, how to guarantee long-time-availability of digital research data for future research. The support for the well-known DOBES (Documentation of Endangered Languages) programme has greatly inspired and advanced this work, and lead to the ongoing development of a whole suite of tools for annotating, cataloguing and archiving multi-media data. At the core of the LAT (Language Archiving Technology) tools is the IMDI metadata schema, now being integrated into a larger network of digital resources in the European CLARIN project. The multi-media annotator ELAN (with its web-based cousin ANNEX) is now well known not only among documentary linguists. We aim at presenting an overview of the solutions, both achieved and in development, for creating and exploiting sustainable digital data, in particular in the area of documenting languages and cultures, and their interfaces with related other developments

Abstract

Genome wide complex trait analysis (GCTA) is extended to include environmental effects of the maternal genotype on offspring phenotype (“maternal effects”, M-GCTA). The model includes parameters for the direct effects of the offspring genotype, maternal effects and the covariance between direct and maternal effects. Analysis of simulated data, conducted in OpenMx, confirmed that model parameters could be recovered by full information maximum likelihood (FIML) and evaluated the biases that arise in conventional GCTA when indirect genetic effects are ignored. Estimates derived from FIML in OpenMx showed very close agreement to those obtained by restricted maximum likelihood using the published algorithm for GCTA. The method was also applied to illustrative perinatal phenotypes from ~4,000 mother-offspring pairs from the Avon Longitudinal Study of Parents and Children. The relative merits of extended GCTA in contrast to quantitative genetic approaches based on analyzing the phenotypic covariance structure of kinships are considered.