Publications

Abstract

The correlations between interpopulation genetic and linguistic diversities are mostly noncausal (spurious), being due to historical processes and geographical factors that shape them in similar ways. Studies of such correlations usually consider allele frequencies and linguistic groupings (dialects, languages, linguistic families or phyla), sometimes controlling for geographic, topographic, or ecological factors. Here, we consider the relation between allele frequencies and linguistic typological features. Specifically, we focus on the derived haplogroups of the brain growth and development-related genes ASPM and Microcephalin, which show signs of natural selection and a marked geographic structure, and on linguistic tone, the use of voice pitch to convey lexical or grammatical distinctions. We hypothesize that there is a relationship between the population frequency of these two alleles and the presence of linguistic tone and test this hypothesis relative to a large database (983 alleles and 26 linguistic features in 49 populations), showing that it is not due to the usual explanatory factors represented by geography and history. The relationship between genetic and linguistic diversity in this case may be causal:
certain alleles can bias language acquisition or processing and thereby influence the trajectory of language change through iterated cultural transmission.

Abstract

Serial verb constructions have often been said to refer to single conceptual events. However, evidence to support this claim has been elusive. This article introduces co-speech gestures as a new way of investigating the relationship. The alignment patterns of gestures with serial verb constructions and other complex clauses were compared in Avatime (Ka-Togo, Kwa, Niger-Congo). Serial verb constructions tended to occur with single gestures overlapping the entire construction. In contrast, other complex clauses were more likely to be accompanied by distinct gestures overlapping individual verbs. This pattern of alignment suggests that serial verb constructions are in fact used to describe single events.

Abstract

Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders. We consider the future of the field, highlighting the unusual challenges and opportunities associated with studying genomics of language-related traits.

Abstract

Background: Human fibroblasts can be directly converted to several subtypes of neurons, but cortical projection neurons have not been generated. Methods: Here we screened for transcription factor combinations that could potentially convert human fibroblasts to functional excitatory cortical neurons. The induced cortical (iCtx) cells were analyzed for cortical neuronal identity using immunocytochemistry, single-cell quantitative polymerase chain reaction (qPCR), electrophysiology, and their ability to integrate into human neural networks in vitro and ex vivo using electrophysiology and rabies virus tracing. Results: We show that a combination of three ranscription fact ors, BRN2, MYT1L, and FEZF2, have the ability to directly convert human fibroblasts to functional excitatory cortical neurons. The conversion efficiency was increased to about 16% by treatment with small molecules and microRNAs. The iCtx cells exhibited electrophysiological properties of functional neurons, had pyramidal-like cell morphology, and expressed key cortical projection neuronal markers. Single-cell analysis of iCtx cells revealed a complex gene expression profile, a subpopulation of them displaying a molecular signature closely resembling that of human fetal primary cortical neurons. The iCtx cells received synaptic inputs from co-cultured human fetal primary cortical neurons, contained spines, and expressed the postsyna ptic excitatory scaffold protein PSD95. When transplanted ex vivo to organotypic cultures of adult human cerebral cortex, the iCtx cells exhibited morphological and electrophysiological properties of mature neurons, integrated structurally into the cortical tissue, and received synaptic inputs from adult human neurons. Conclusions: Our findings indicate that functional excitatory cortical neurons, generated here for the first time by direct conversion of human somatic cells, have the capacity for synaptic integration into adult human cortex.

Abstract

Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complex. Using a comprehensive integrated approach to ID disease modeling, involving human cellular analyses coupled to mouse behavioral, neuroanatomical, and molecular phenotyping, we provide multiple lines of functional evidence for phenotypic effects. The etiological missense variants cluster in the amino-terminal region of human BCL11A, and we demonstrate that they all disrupt its localization, dimerization, and transcriptional regulatory activity, consistent with a loss of function. We show that Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype. Furthermore, we identify shared aberrant transcriptional profiles in the cortex and hippocampus of these mouse models. Thus, our work implicates BCL11A haploinsufficiency in neurodevelopmental disorders and defines additional targets regulated by this gene, with broad relevance for our understanding of ID and related syndromes

Abstract

People differ in their ability to perceive second language (L2) sounds. In early bilinguals the variability in learning L2 phonemes stems from speech-specific capabilities (Díaz, Baus, Escera, Costa & Sebastián-Gallés, 2008). The present study addresses whether speech-specific capabilities similarly explain variability in late bilinguals. Event-related potentials were recorded (using a design similar to Díaz et al., 2008) in two groups of late Dutch–English bilinguals who were good or poor in overtly discriminating the L2 English vowels /ε-æ/. The mismatch negativity, an index of discrimination sensitivity, was similar between the groups in conditions involving pure tones (of different length, frequency, and presentation order) but was attenuated in poor L2 perceivers for native, unknown, and L2 phonemes. These results suggest that variability in L2 phonemic learning originates from speech-specific capabilities and imply a continuity of L2 phonemic learning mechanisms throughout the lifespan

Abstract

One of the first steps infants take in learning their native language is to discover its set of speech-sound categories. This early development is shown when infants begin to lose the ability to differentiate some of the speech sounds their language does not use, while retaining or improving discrimination of language-relevant sounds. However, this aspect of early phonological tuning is not sufficient for language learning. Children must also discover which of the phonetic cues that are used in their language serve to signal lexical distinctions. Phonetic variation that is readily discriminable to all children may indicate two different words in one language but only one word in another. Here, we provide evidence that the language background of 1.5-year-olds affects their interpretation of phonetic variation in word learning, and we show that young children interpret salient phonetic variation in language-specific ways. Three experiments with a total of 104 children compared Dutch- and English-learning 18-month-olds' responses to novel words varying in vowel duration or vowel quality. Dutch learners interpreted vowel duration as lexically contrastive, but English learners did not, in keeping with properties of Dutch and English. Both groups performed equivalently when differentiating words varying in vowel quality. Thus, at one and a half years, children's phonological knowledge already guides their interpretation of salient phonetic variation. We argue that early phonological learning is not just a matter of maintaining the ability to distinguish language-relevant phonetic cues. Learning also requires phonological interpretation at appropriate levels of linguistic analysis.

Abstract

Adherence to medications is an important indicator of the quality of medication management and impacts on health outcomes and cost-effectiveness of healthcare delivery. Electronic healthcare data (EHD) are increasingly used to estimate adherence in research and clinical practice, yet standardization and transparency of data processing are still a concern. Comprehensive and flexible open-source algorithms can facilitate the development of high-quality, consistent, and reproducible evidence in this field. Some EHD-based clinical decision support systems (CDSS) include visualization of medication histories, but this is rarely integrated in adherence analyses and not easily accessible for data exploration or implementation in new clinical settings. We introduce AdhereR, a package for the widely used open-source statistical environment R, designed to support researchers in computing EHD-based adherence estimates and in visualizing individual medication histories and adherence patterns. AdhereR implements a set of functions that are consistent with current adherence guidelines, definitions and operationalizations. We illustrate the use of AdhereR with an example dataset of 2-year records of 100 patients and describe the various analysis choices possible and how they can be adapted to different health conditions and types of medications. The package is freely available for use and its implementation facilitates the integration of medication history visualizations in open-source CDSS platforms.

Abstract

Communication is facilitated when listeners allocate their attention to important information (focus) in the message, a process called "information structure." Linguistic cues like the preceding context and pitch accent help listeners to identify focused information. In multimodal communication, relevant information can be emphasized by nonverbal cues like beat gestures, which represent rhythmic nonmeaningful hand movements. Recent studies have found that linguistic and nonverbal attention cues are integrated independently in single sentences. However, it is possible that these two cues interact when information is embedded in context, because context allows listeners to predict what information is important. In an ERP study, we tested this hypothesis and asked listeners to view videos capturing a dialogue. In the critical sentence, focused and nonfocused words were accompanied by beat gestures, grooming hand movements, or no gestures. ERP results showed that focused words are processed more attentively than nonfocused words as reflected in an N1 and P300 component. Hand movements also captured attention and elicited a P300 component. Importantly, beat gesture and focus interacted in a late time window of 600-900 msec relative to target word onset, giving rise to a late positivity when nonfocused words were accompanied by beat gestures. Our results show that listeners integrate beat gesture with the focus of the message and that integration costs arise when beat gesture falls on nonfocused information. This suggests that beat gestures fulfill a unique focusing function in multimodal discourse processing and that they have to be integrated with the information structure of the message.

Abstract

This paper discusses the influence of age-related factors like stage of cognitive development, prior linguistic knowledge, and motivation and addresses the specific effects of these ‘age factors’ on second language acquisition as opposed to other learning tasks. Based on longitudinal corpus data from child and adolescent learners of L2 German (L1 = Russian), the paper studies the acquisition of word order (verb raising over negation, verb second) and inflectional morphology (subject-verb-agreement, tense, noun plural, and adjective-noun agreement). Whereas the child learner shows target-like production in all of these areas within the observation period (1½ years), the adolescent learner masters only some of them. The discussion addresses the question of what it is about clusters of grammatical features that make them particularly affected by age.

Abstract

The younger - the better? This paper discusses second language learning at different ages and takes a critical look at generalizations of the kind ‘The younger – the better’. It is argued that these generalizations do not apply across the board. Age related differences like the amount of linguistic knowledge, prior experience as a language user, or more or less advanced communicative needs affect different components of the language system to different degrees, and can even be an advantage for the early development of simple communicative systems.

Abstract

Brain-to-brain interfaces, in which brains are physically connected without the intervention of language, promise new ways of collaboration and communication between humans. I examine the narrow view of language implicit in current conceptions of brain-to-brain interfaces and put forward a constructive alternative, stressing the role of language in organising joint agency. Two features of language stand out as crucial: its selectivity, which provides people with much-needed filters between public words and private worlds; and its negotiability, which provides people with systematic opportunities for calibrating understanding and expressing consent and dissent. Without these checks and balances, brain-to-brain interfaces run the risk of reducing people to the level of amoeba in a slime mold; with them, they may mature to become useful extensions of human agency

Abstract

Words and phrases may differ in the extent to which they are susceptible to prosodic foregrounding and expressive morphology: their expressiveness. They may also differ in the degree to which they are integrated in the morphosyntactic structure of the utterance: their grammatical integration. We describe an inverse relation that holds across widely varied languages, such that more expressiveness goes together with less grammatical integration, and vice versa. We review typological evidence for this inverse relation in 10 languages, then quantify and explain it using Japanese corpus data. We do this by tracking ideophones —vivid sensory words also known as mimetics or expressives— across different morphosyntactic contexts and measuring their expressiveness in terms of intonation, phonation and expressive morphology. We find that as expressiveness increases, grammatical integration decreases. Using gesture as a measure independent of the speech signal, we find that the most expressive ideophones are most likely to come together with iconic gestures. We argue that the ultimate cause is the encounter of two distinct and partly incommensurable modes of representation: the gradient, iconic, depictive system represented by ideophones and iconic gestures and the discrete, arbitrary, descriptive system represented by ordinary words. The study shows how people combine modes of representation in speech and demonstrates the value of integrating description and depiction into the scientific vision of language.

Abstract

We provide an annotated coding scheme for other-initiated repair, along with guidelines for building collections and aggregating cases based on interactionally relevant similarities and differences. The questions and categories of the scheme are grounded in inductive observations of conversational data and connected to a rich body of work on other-initiated repair in conversation analysis. The scheme is developed and tested in a 12-language comparative project and can serve as a stepping stone for future work on other-initiated repair and the systematic comparative study of conversational structures.

Abstract

Ideophones are often described as words that are highly expressive and morphosyntactically marginal. A study of ideophones in everyday conversations in Siwu (Kwa, eastern Ghana) reveals a landscape of variation and change that sheds light on some larger questions in the morphosyntactic typology of ideophones. The article documents a trade-off between expressiveness and morphosyntactic integration, with high expressiveness linked to low integration and vice versa. It also describes a pathway for deideophonisation and finds that frequency of use is a factor that influences the degree to which ideophones can come to be more like ordinary words. The findings have implications for processes of (de)ideophonisation, ideophone borrowing, and ideophone typology. A key point is that the internal diversity we find in naturally occurring data, far from being mere noise, is patterned variation that can help us to get a handle on the factors shaping ideophone systems within and across languages.

Abstract

Linguistic discovery is viewpoint-dependent, just like our ideas about what is marginal and what is central in language. In this essay I consider two supposed marginalia —ideophones and interjections— which provide some useful pointers for widening our field of view. Ideophones challenge us to take a fresh look at language and consider how it is that our communication system combines multiple modes of representation. Interjections challenge us to extend linguistic inquiry beyond sentence level, and remind us that language is social-interactive at core. Marginalia, then, are not the obscure, exotic phenomena that can be safely ignored: they represent opportunities for innovation and invite us to keep pushing the edges of linguistic inquiry.

Abstract

People often begin stories in conversation by referring to person, time, and place. We study story beginnings in three societies and find place reference is recurrently used to (i) set the stage, foreshadowing the type of story and the kind of response due, and to (ii) make the story cohere, anchoring elements of the developing story. Recipients orient to these interactional affordances of place reference by responding in ways that attend to the relevance of place for the story and by requesting clarification when references are incongruent or noticeably absent. The findings are based on 108 story beginnings in three unrelated languages: Cha’palaa, a Barbacoan language of Ecuador; Northern Italian, a Romance language of Italy; and Siwu, a Kwa language of Ghana. The commonalities suggest we have identified generic affordances of place reference, and that storytelling in conversation offers a robust sequential environment for systematic comparative research on conversational structures.

Abstract

Sound symbolism is a phenomenon with broad relevance to the study of language and mind, but there has been a disconnect between its investigations in linguistics and psychology. This study tests the sound-symbolic potential of ideophones—words described as iconic—in an experimental task that improves over prior work in terms of ecological validity and experimental control. We presented 203 ideophones from five languages to eighty-two Dutch listeners in a binary-choice task, in four versions: original recording, full diphone resynthesis, segments-only resynthesis, and prosody-only resynthesis. Listeners guessed the meaning of all four versions above chance, confirming the iconicity of ideophones and showing the viability of speech synthesis as a way of controlling for segmental and suprasegmental properties in experimental studies of sound symbolism. The success rate was more modest than prior studies using pseudowords like bouba/kiki, implying that assumptions based on such words cannot simply be transferred to natural languages. Prosody and segments together drive the effect: neither alone is sufficient, showing that segments and prosody work together as cues supporting iconic interpretations. The findings cast doubt on attempts to ascribe iconic meanings to segments alone and support a view of ideophones as words that combine arbitrariness and iconicity.We discuss the implications for theory and methods in the empirical study of sound symbolism and iconicity.

Abstract

Background Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. Methods We sent out a survey to 16 genetic centers performing SCN1A testing. Results We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. Conclusion We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.

Abstract

Reduced forms like yeshay for yesterday often occur in conversations. Previous behavioral research reported a processing advantage for full over reduced forms. The present study investigated whether this processing advantage is reflected in a modulation of alpha (8–12 Hz) and gamma (30+ Hz) band activity. In three electrophysiological experiments, participants listened to full and reduced forms in isolation (Experiment 1), sentence-final position (Experiment 2), or mid-sentence position (Experiment 3). Alpha power was larger in response to reduced forms than to full forms, but only in Experiments 1 and 2. We interpret these increases in alpha power as reflections of higher auditory cognitive load. In all experiments, gamma power only increased in response to full forms, which we interpret as showing that lexical activation spreads more quickly through the semantic network for full than for reduced forms. These results confirm a processing advantage for full forms, especially in non-medial sentence position.

Abstract

Purpose This study investigated whether and to what extent iconic co-speech gestures contribute to information from visible speech to enhance degraded speech comprehension at different levels of noise-vocoding. Previous studies of the contributions of these 2 visual articulators to speech comprehension have only been performed separately.

Method Twenty participants watched videos of an actress uttering an action verb and completed a free-recall task. The videos were presented in 3 speech conditions (2-band noise-vocoding, 6-band noise-vocoding, clear), 3 multimodal conditions (speech + lips blurred, speech + visible speech, speech + visible speech + gesture), and 2 visual-only conditions (visible speech, visible speech + gesture).

Results Accuracy levels were higher when both visual articulators were present compared with 1 or none. The enhancement effects of (a) visible speech, (b) gestural information on top of visible speech, and (c) both visible speech and iconic gestures were larger in 6-band than 2-band noise-vocoding or visual-only conditions. Gestural enhancement in 2-band noise-vocoding did not differ from gestural enhancement in visual-only conditions.

Abstract

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

Abstract

Previous studies examined various factors influencing voice recognition and learning with mixed results. The present study investigates the separate and combined contribution of these various speaker-, stimulus-, and listener-related factors to voice recognition. Dutch listeners, with arguably incomplete phonological and lexical knowledge in the target language, English, learned to recognize the voice of four native English speakers, speaking in English, during four-day training. Training was successful and listeners' accuracy was shown to be influenced by the acoustic characteristics of speakers and the sound composition of the words used in the training, but not by lexical frequency of the words, nor the lexical knowledge of the listeners or their phonological aptitude. Although not conclusive, listeners with a lower working memory capacity seemed to be slower in learning voices than listeners with a higher working memory capacity. The results reveal that speaker-related, listener-related, and stimulus-related factors accumulate in voice recognition, while lexical information turns out not to play a role in successful voice learning and recognition. This implies that voice recognition operates at the prelexical processing level.

Abstract

There is ample evidence that native and non-native listeners use lexical knowledge to retune their native phonetic categories following ambiguous pronunciations. The present study investigates whether a non-native ambiguous sound can retune non-native phonetic categories. After a brief exposure to an ambiguous British English [l/ɹ] sound, Dutch listeners demonstrated retuning. This retuning was, however, asymmetrical: the non-native listeners seemed to show (more) retuning of the /ɹ/ category than of the /l/ category, suggesting that non-native listeners can retune non-native phonetic categories. This asymmetry is argued to be related to the large phonetic variability of /r/ in both Dutch and English.

Abstract

This study provides an answer to the question of how dictionaries should be read. For this purpose, articles taken from an outline for a Guaraní-German dictionary geared to established lexicographic practice are provided with standardized interpretations. Each article is systematically assigned a formal sentence making its meaning explicit both for content words (including polysemes) and functional words or affixes. Integrative Linguistics proves its theoretical and practical value both for the description of Guaraní (indigenous Indian language spoken in Paraguay, Argentina and Brazil) and in metalexicographic terms.

Abstract

This paper presents results from a new set of experiments using the sentence matching paradigm (Forster, Kenneth (1979), Freedman & Forster (1985), also Bley-Vroman & Masterson (1989), investigating native-speakers’ and L2 learners’ knowledge of constraints on clitic placement in French.1 Our purpose is three-fold: (i) to shed more light on the contrasts between native-speakers and L2 learners observed in previous experiments, especially Duffield & White (1999), and Duffield, White, Bruhn de Garavito, Montrul & Prévost (2002); (ii), to address specific criticisms of the sentence-matching paradigm leveled by Gass (2001); (iii), to provide a firm empirical basis for follow-up experiments with L2 learners

Abstract

This paper builds on a previous work in which we attempted to retrieve a phylogenetic signal using abstract structural features alone, as opposed to cognate sets, drawn from a sample of Island Melanesian languages, both Oceanic (Austronesian) and (non-Austronesian) Papuan (Science 2005[309]: 2072-75 ). Here we clarify a number of misunderstandings of this approach, referring particularly to the critique by Mark Donohue and Simon Musgrave (in this same issue of Oceanic Linguistics), in which they fail to appreciate the statistical principles underlying computational phylogenetic methods. We also present new analyses that provide stronger evidence supporting the hypotheses put forward in our original paper: a reanalysis using Bayesian phylogenetic inference demonstrates the robustness of the data and methods, and provides a substantial improvement over the parsimony method used in our earlier paper. We further demonstrate, using the technique of spatial autocorrelation, that neither proximity nor Oceanic contact can be a major determinant of the pattern of structural variation of the Papuan languages, and thus that the phylogenetic relatedness of the Papuan languages remains a serious hypothesis.

Abstract

The Touo language is a non-Austronesian language spoken on Rendova Island (Western Province, Solomon Islands). First language speakers of Touo are typically multilingual, and are likely to speak other (Austronesian) vernaculars, as well as Solomon Island Pijin and English. There is no institutional support of literacy in Touo: schools function in English, and church-based support for vernacular literacy focuses on the major Austronesian languages of the local area. Touo vernacular literacy exists in a restricted niche of the linguistic ecology, where it is utilised for symbolic rather than communicative goals. Competing vernacular orthographic traditions complicate the situation further.

Abstract

As proposed by Ameka and Levinson (this issue) locative verb systems can be classified into four types according to the number of verbs distinguished. This article addresses the lower extreme of this typology: languages which offer no choice of verb in the basic locative function (BLF). These languages have either a single locative verb, or do not use verbs at all in the basic locative construction (BLC, the construction used to encode the BLF). A close analysis is presented of the behavior of BLF predicate types in four genetically diverse languages: Chukchi (Chukotko-Kamchatkan, Russian Arctic), and Lavukaleve (Papuan isolate, Solomon Islands), which have BLC with the normal copula/existential verb for the language; Tiriyó (Cariban/Taranoan, Brazil), which has an optional copula in the BLC; and Saliba (Austronesian/Western Oceanic, Papua New Guinea), a language with a verbless clause as the BLC. The status of these languages in the typology of positional verb systems is reviewed, and other relevant typological generalizations are discussed

Abstract

Kazukuru is an extinct language, originally spoken in the inland of the western part of the island of New Georgia, Solomon Islands, and attested by very limited historical sources. Kazukuru has generally been considered to be a Papuan, that is, non-Austronesian, language, mostly on the basis of its lexicon. Reevaluation of the available data suggests a high likelihood that Kazukuru was in fact an Oceanic Austronesian language. Pronominal paradigms are clearly of Austronesian origin, and many other aspects of language structured retrievable from the limited data are also congruent with regional Oceanic Austronesian typology. The extent and possible causes of Kazukuru lexical deviations from the Austronesian norm are evaluated and discussed.

Abstract

The Pioneers project seeks to uncover relationships between the Papuan languages of Island Melanesia. One basic way to uncover linguistic relationships, either contact or genetic, is through lexical comparison. We have seen very few shared words between our Papuan languages and any other languages, either Oceanic or Papuan, but most of the words which are shared are shared because they are commonly borrowed from Oceanic languages. This task is aimed at enabling fieldworkers to collect terms for inland bird and tree species. In the past it is has proved very difficult for non-experts to identify plant and bird species, so the task consists of a booklet of colour pictures of some of the more common species, with information on the range and habits of each species, as well as some information on their cultural uses, which should enable better identification. It is intended that fieldworkers will show this book to consultants and use it as an elicitation aid.

Abstract

The Core Trustworthy Data Repository Requirements were developed by the DSA–WDS Partnership Working Group on Repository Audit and Certification, a Working Group (WG) of the Research Data Alliance . The goal of the effort was to create a set of harmonized common requirements for certification of repositories at the core level, drawing from criteria already put in place by the Data Seal of Approval (DSA: www.datasealofapproval.org) and the ICSU World Data System (ICSU-WDS: https://www.icsu-wds.org/services/certification). An additional goal of the project was to develop common procedures to be implemented by both DSA and ICSU-WDS. Ultimately, the DSA and ICSU-WDS plan to collaborate on a global framework for repository certification that moves from the core to the extended (nestor-Seal DIN 31644), to the formal (ISO 16363) level.

Abstract

Familial hemiplegic migraine type 1 (FHM1) is a
rare monogenic subtype of migraine with aura caused by mutations
in CACNA1A that encodes the α1A subunit of voltagegated
CaV2.1 calcium channels. Transgenic knock-in mice
that carry the human FHM1 R192Q missense mutation
(‘FHM1 R192Q mice’) exhibit an increased susceptibility to
cortical spreading depression (CSD), the mechanism underlying
migraine aura. Here, we analysed gene expression profiles
from isolated cortical tissue of FHM1 R192Q mice 24 h after
experimentally induced CSD in order to identify molecular
pathways affected by CSD. Gene expression profiles were
generated using deep serial analysis of gene expression sequencing.
Our data reveal a signature of inflammatory signalling
upon CSD in the cortex of both mutant and wild-type
mice. However, only in the brains of FHM1 R192Q mice
specific genes are up-regulated in response to CSD that are
implicated in interferon-related inflammatory signalling. Our
findings show that CSD modulates inflammatory processes in
both wild-type and mutant brains, but that an additional
unique inflammatory signature becomes expressed after
CSD in a relevant mouse model of migraine.

Abstract

Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.

Abstract

Cluster headache is a relatively rare headache disorder, typically characterized by multiple daily, short-lasting attacks of excruciating, unilateral (peri-)orbital or temporal pain associated with autonomic symptoms and restlessness. To better understand the pathophysiology of cluster headache, we used RNA sequencing to identify differentially expressed genes and pathways in whole blood of patients with episodic (n = 19) or chronic (n = 20) cluster headache in comparison with headache-free controls (n = 20). Gene expression data were analysed by gene and by module of co-expressed genes with particular attention to previously implicated disease pathways including hypocretin dysregulation. Only moderate gene expression differences were identified and no associations were found with previously reported pathogenic mechanisms. At the level of functional gene sets, associations were observed for genes involved in several brain-related mechanisms such as GABA receptor function and voltage-gated channels. In addition, genes and modules of co-expressed genes showed a role for intracellular signalling cascades, mitochondria and inflammation. Although larger study samples may be required to identify the full range of involved pathways, these results indicate a role for mitochondria, intracellular signalling and inflammation in cluster headache

Abstract

Migraine is a common episodic brain disorder characterized by recurrent attacks of severe unilateral headache and additional neurological symptoms. Two main migraine types can be distinguished based on the presence of aura symptoms that can accompany the headache: migraine with aura and migraine without aura. Multiple genetic and environmental factors confer disease susceptibility. Recent genome-wide association studies (GWAS) indicate that migraine susceptibility genes are involved in various pathways, including neurotransmission, which have already been implicated in genetic studies of monogenic familial hemiplegic migraine, a subtype of migraine with aura. Methods To further explore the genetic background of migraine, we performed a gene set analysis of migraine GWAS data of 4954 clinic-based patients with migraine, as well as 13,390 controls. Curated sets of synaptic genes and sets of genes predominantly expressed in three glial cell types (astrocytes, microglia and oligodendrocytes) were investigated. Discussion Our results show that gene sets containing astrocyte- and oligodendrocyte-related genes are associated with migraine, which is especially true for gene sets involved in protein modification and signal transduction. Observed differences between migraine with aura and migraine without aura indicate that both migraine types, at least in part, seem to have a different genetic background.

Abstract

How do we refer to people in everyday conversation? No matter the language or culture, we must choose from a range of options: full name ('Robert Smith'), reduced name ('Bob'), description ('tall guy'), kin term ('my son') etc. Our choices reflect how we know that person in context, and allow us to take a particular perspective on them. This book brings together a team of leading linguists, sociologists and anthropologists to show that there is more to person reference than meets the eye. Drawing on video-recorded, everyday interactions in nine languages, it examines the fascinating ways in which we exploit person reference for social and cultural purposes, and reveals the underlying principles of person reference across cultures from the Americas to Asia to the South Pacific. Combining rich ethnographic detail with cross-linguistic generalizations.

Abstract

This article presents a study of a set of pointing gestures produced together with speech in a corpus of video-recorded “locality description” interviews in rural Laos. In a restricted set of the observed gestures (we did not consider gestures with special hand shapes, gestures with arc/tracing motion, or gestures directed at referents within physical reach), two basic formal types of pointing gesture are observed: B-points (large movement, full arm, eye gaze often aligned) and S-points (small movement, hand only, casual articulation). Taking the approach that speech and gesture are structurally integrated in composite utterances, we observe that these types of pointing gesture have distinct pragmatic functions at the utterance level. One type of gesture (usually “big” in form) carries primary, informationally foregrounded information (for saying “where” or “which one”). Infants perform this type of gesture long before they can talk. The second type of gesture (usually “small” in form) carries secondary, informationally backgrounded information which responds to a possible but uncertain lack of referential common ground. We propose that the packaging of the extra locational information into a casual gesture is a way of adding extra information to an utterance without it being on-record that the added information was necessary. This is motivated by the conflict between two general imperatives of communication in social interaction: a social-affiliational imperative not to provide more information than necessary (“Don’t over-tell”), and an informational imperative not to provide less information than necessary (“Don’t under-tell”).

Abstract

Research on video- and audio-recordings of spontaneous naturally-occurring conversation in English has shown that conversation is a rule-guided, practice-oriented domain that can be investigated for its underlying mechanics or structure. Systematic study could yield something like a grammar for conversation. The goal of this task is to acquire a corpus of video-data, for investigating the underlying structure(s) of interaction cross-linguistically and cross-culturally.

Abstract

This Field Manual entry has been superceded by the 2007 version:
https://doi.org/10.17617/2.468728

Abstract

Any language will have a range of predicates that specify three core participants (e.g. 'put', 'show', 'give'), and will conventionally provide a range of constructional types for the expression of these three participants in a structured single-clause or single-sentence event description. This article examines the clausal encoding of three-participant events in Lao, a Tai language of Southeast Asia. There is no possibility in Lao for expression of three full arguments in the core of a single-verb clause (although it is possible to have a third argument in a noncore slot, marked as oblique with a prepositionlike element). Available alternatives include extraposing an argument using a topic-comment construction, incorporating an argument into the verb phrase, and ellipsing one or more contextually retrievable arguments. A more common strategy is verb serialization, for example, where a threeplace verb (e.g. 'put') is assisted by an additional verb (typically a verb of handling such as 'carry') that provides a slot for the theme argument (e.g. the transferred object in a putting scene). The event construal encoded by this type of structure decomposes the event into a first stage in which the agent comes into control over a theme, and a second in which the agent performs a controlled action (e.g. of transfer) with respect to that theme and a goal (and/or source). The particular set of strategies that Lao offers for encoding three-participant events — notably, topic-comment strategy, ellipsis strategy, serial verb strategy — conform with (and are presumably motivated by) the general typological profile of the language. The typological features of Lao are typical for the mainland Southeast Asia area (isolating, topic-prominent, verb-serializing, widespread nominal ellipsis).

Abstract

Lao is the national language of Laos, and is also spoken widely in Thailand and Cambodia. It is a tone language of the Tai-Kadai family (Southwestern Tai branch). Lao is an extreme example of the isolating, analytic language type. This book is the most comprehensive grammatical description of Lao to date. It describes and analyses the important structures of the language, including classifiers, sentence-final particles, and serial verb constructions. Special attention is paid to grammatical topics from a semantic, pragmatic, and typological perspective.

Abstract

While there are infinite conceivable events of material separation, those actually encoded in the conventions of a given language's verb semantics number only a few. Furthermore, there appear to be crosslinguistic parallels in the native verbal analysis of this conceptual domain. What are the operative distinctions, and why these? This article analyses a key subset of the bivalent (transitive) verbs of cutting and breaking in Lao. I present a decompositional analysis of the verbs glossed 'cut (off)', 'cut.into.with.placed.blade', 'cut.into.with.moving.blade', and 'snap', pursuing the idea that the attested combinations of sub-events have a natural logic to them. Consideration of the nature of linguistic categories, as distinct from categories in general, suggests that the attested distinctions must have ethnographic and social interactional significance, raising new lines of research for cognitive semantics.

Abstract

This sub-project is concerned with analysis and cross-linguistic comparison of the mechanisms of signaling and redressing ‘trouble’ during conversation. Speakers and listeners constantly face difficulties with many different aspects of speech production and comprehension during conversation. A speaker may mispronounce a word, or may be unable to find a word, or be unable to formulate in words an idea he or she has in mind. A listener may have troubling hearing (part of) what was said, may not know who a speaker is referring to, may not be sure of the current relevance of what is being said. There may be problems in the organisation of turns at talk, for instance, two speakers’ speech may be in overlap. The goal of this task is to investigate the range of practices that a language uses to address problems of speaking, hearing and understanding in conversation.

Abstract

This Field Manual entry has been superceded by the 2007 version: https://doi.org/10.17617/2.468724

Abstract

This article shows that Old-French literary texts differ systematically in their relative frequencies of syntactic constructions. These frequencies reflect differences in register (poetry versus prose), region (Picardy, Champagne, and Esatern France), time period (until 1250, 1251 – 1300, 1301 – 1350), and genre (hagiography, romance of chivalry, or other).

Abstract

Two lexical decision experiments addressed the role of paradigmatic effects in auditory word recognition. Experiment 1 showed that listeners classified a form with an incorrectly voiced final obstruent more readily as a word if the obstruent is realised as voiced in other forms of that word's morphological paradigm. Moreover, if such was the case, the exact probability of paradigmatic voicing emerged as a significant predictor of the response latencies. A greater probability of voicing correlated with longer response latencies for words correctly realised with voiceless final obstruents. A similar effect of this probability was observed in Experiment 2 for words with completely voiceless or weakly voiced (incompletely neutralised) final obstruents. These data demonstrate the relevance of paradigmatically related complex words for the processing of morphologically simple words in auditory word recognition.

Abstract

Words are often pronounced with fewer segments in casual conversations than in formal speech. Previous research has shown that foreign language learners and beginning second language learners experience problems processing reduced speech. We examined whether this also holds for advanced second language learners. We designed a dictation task in Dutch consisting of sentences spliced from casual conversations and an unreduced counterpart of this task, with the same sentences carefully articulated by the same speaker. Advanced second language learners of Dutch produced substantially more transcription errors for the reduced than for the unreduced sentences. These errors made the sentences incomprehensible or led to non-intended meanings. The learners often did not rely on the semantic and syntactic information in the sentence or on the subsegmental cues to overcome the reductions. Hence, advanced second language learners also appear to suffer from the reduced pronunciation variants of words that are abundant in everyday conversations

Abstract

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

Abstract

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

Abstract

In Dutch, all morpheme-final obstruents are voiceless in word-final position. As a consequence, the distinction between obstruents that are voiced before vowel-initial suffixes and those that are always voiceless is neutralized. This study adds to the existing evidence that the neutralization is incomplete: neutralized, alternating plosives tend to have shorter bursts than non-alternating plosives. Furthermore, in a rating study, listeners scored the alternating plosives as more voiced than the nonalternating plosives, showing sensitivity to the subtle subphonemic cues in the acoustic signal. Importantly, the participants who were presented with the complete words, instead of just the final rhymes, scored the alternating plosives as even more voiced. This shows that listeners’ perception of voice is affected by their knowledge of the obstruent’s realization in the word’s morphological paradigm. Apparently, subphonemic paradigmatic levelling is a characteristic of both production and perception. We explain the effects within an analogy-based approach.

Abstract

Amsterdam klinkt in informele gesprekken vaak als Amsdam en Rotterdam als Rodam, zonder dat de meeste moedertaalsprekers zich daar bewust van zijn. In alledaagse situaties valt een aanzienlijk deel van de klanken weg. Daarnaast worden veel klanken zwakker gearticuleerd (bijvoorbeeld een d als een j, als de mond niet helemaal afgesloten wordt). Het lijkt waarschijnlijk dat deze half uitgesproken woorden een probleem vormen voor tweedetaalleerders. Gereduceerde vormen kunnen immers sterk afwijken van de vormen die deze leerders geleerd hebben. Of dit werkelijk zo is, hebben de auteurs onderzocht in twee studies. Voordat ze deze twee studies bespreken, vertellen ze eerst kort iets over de verschillende typen reducties die voorkomen.

Abstract

This study investigates how the comprehension of casual speech in foreign languages is affected by the phonotactic constraints in the listener’s native language. Non-native listeners of English with different native languages heard short English phrases produced by native speakers of English or Spanish and they indicated whether these phrases included can or can’t. Native Mandarin listeners especially tended to interpret can’t as can. We interpret this result as a direct effect of the ban on word-final /nt/ in Mandarin. Both the native Mandarin and the native Spanish listeners did not take full advantage of the subsegmental information in the speech signal cueing reduced can’t. This finding is probably an indirect effect of the phonotactic constraints in their native languages: these listeners have difficulties interpreting the subsegmental cues because these cues do not occur or have different functions in their native languages. Dutch resembles English in the phonotactic constraints relevant to the comprehension of can’t, and native Dutch listeners showed similar patterns in their comprehension of native and non-native English to native English listeners. This result supports our conclusion that the major patterns in the comprehension results are driven by the phonotactic constraints in the listeners’ native languages.

Abstract

In evolutionary linguistics, experiments using artificial signal spaces are being used to investigate the emergence of speech structure. These signal spaces need to be continuous, non-discretised spaces from which discrete units and patterns can emerge. They need to be dissimilar from - but comparable with - the vocal-tract, in order to minimise interference from pre-existing linguistic knowledge, while informing us about language. This is a hard balance to strike. This article outlines a new approach which uses the Leap Motion, an infra-red controller which can convert manual movement in 3d space into sound. The signal space using this approach is more flexible than signal spaces in previous attempts. Further, output data using this approach is simpler to arrange and analyse. The experimental interface was built using free, and mostly open source libraries in Python. We provide our source code for other researchers as open source.

Abstract

This paper compares “cut” and “break” verbs in four variants of Gbe, namely Anfoe, Anlo, Fon and Ayizo, with those of Sranan. “Cut” verbs are change-of-state verbs that co-lexicalize the type of action that brings about a change, the type of instrument or instrument part, and the manner in which a change occurs. By contrast, break verbs co-lexicalize either the type of object or the type of change. It has been hypothesized that “cut”-verbs are unergative while breaks verbs are unaccusatives. For example “break” verbs participate in the causative alternation constructions but “cut” verbs don’t. We show that although there are some differences in the meanings of “cut” and break verbs across the Gbe languages, significant generalizations can be made with regard to their lexicalization patterns. By contrast, the meanings of “cut” and break verbs in Sranan are closer to those of their etymons in English and Dutch. However, despite the differences in the meanings of “cut” and “break” verbs between the Gbe languages and Sranan, the syntax of the verbs in Sranan is similar to that of the Eastern Gbe variants, namely Fon and Ayizo. We look at the implications of our findings for the relexification hypothesis. (copyright Benjamins)

Abstract

Infants infer social and pragmatic intentions underlying attention-directing gestures, but the basis on which infants make these inferences is not well understood. Previous studies suggest that infants rely on information from preceding shared action contexts and joint perceptual scenes. Here, we tested whether 12-month-olds use information from act-accompanying cues, in particular prosody and hand shape, to guide their pragmatic understanding. In Experiment 1, caregivers directed infants’ attention to an object to request it, share interest in it, or inform them about a hidden aspect. Caregivers used distinct prosodic and gestural patterns to express each pragmatic intention. Experiment 2 was identical except that experimenters provided identical lexical information across conditions and used three sets of trained prosodic and gestural patterns. In all conditions, the joint perceptual scenes and preceding shared action contexts were identical. In both experiments, infants reacted appropriately to the adults’ intentions by attending to the object mostly in the sharing interest condition, offering the object mostly in the imperative condition, and searching for the referent mostly in the informing condition. Infants’ ability to comprehend pragmatic intentions based on prosody and gesture shape expands infants’ communicative understanding from common activities to novel situations for which shared background knowledge is missing.

Abstract

Mutations affecting the transcription factor FOXP2 cause a rare form of severe speech and language disorder. Although it is clear that sufficient FOXP2 expression is crucial for normal brain development, little is known about how this transcription factor is regulated. To investigate post-translational mechanisms for FOXP2 regulation, we searched for protein interaction partners of FOXP2, and identified members of the PIAS family as novel FOXP2 interactors. PIAS proteins mediate post-translational modification of a range of target proteins with small ubiquitin-like modifiers (SUMOs). We found that FOXP2 can be modified with all three human SUMO proteins and that PIAS1 promotes this process. An aetiological FOXP2 mutation found in a family with speech and language disorder markedly reduced FOXP2 SUMOylation. We demonstrate that FOXP2 is SUMOylated at a single major site, which is conserved in all FOXP2 vertebrate orthologues and in the paralogues FOXP1 and FOXP4. Abolishing this site did not lead to detectable changes in FOXP2 subcellular localization, stability, dimerization or transcriptional repression in cellular assays, but the conservation of this site suggests a potential role for SUMOylation in regulating FOXP2 activity in vivo.

Abstract

Childhood adversity (CA) has been associated with long-term structural brain alterations and an increased risk for psychiatric disorders. Evidence is emerging that subtypes of CA, varying in the dimensions of threat and deprivation, lead to distinct neural and behavioral outcomes. However, these specific associations have yet to be established without potential confounders such as psychopathology. Moreover, differences in neural development and psychopathology necessitate the exploration of sexual dimorphism. Young healthy adult subjects were selected based on history of CA from a large database to assess gray matter (GM) differences associated with specific subtypes of adversity. We compared voxel-based morphometry data of subjects reporting specific childhood exposure to abuse (n = 127) or deprivation (n = 126) and a similar sized group of controls (n = 129) without reported CA. Subjects were matched on age, gender, and educational level. Differences between CA subtypes were found in the fusiform gyrus and middle occipital gyms, where subjects with a history of deprivation showed reduced GM compared with subjects with a history of abuse. An interaction between sex and CA subtype was found. Women showed less GM in the visual posterior precuneal region after both subtypes of CA than controls. Men had less GM in the postcentral gyms after childhood deprivation compared with abuse. Our results suggest that even in a healthy population, CA subtypes are related to specific alterations in brain structure, which are modulated by sex. These findings may help understand neurodevelopmental consequences related to CA

Abstract

We make the case that, contra standard assumption in linguistic theory, the sound systems of human languages are adapted to their environment. While not conclusive, this plausible case rests on several points discussed in this work: First, human behavior is generally adaptive and the assumption that this characteristic does not extend to linguistic structure is empirically unsubstantiated. Second, animal communication systems are well known to be adaptive within species across a variety of phyla and taxa. Third, research in laryngology demonstrates clearly that ambient desiccation impacts the performance of the human vocal cords. The latter point motivates a clear, testable hypothesis with respect to the synchronic global distribution of language types. Fourth, this hypothesis is supported in our own previous work, and here we discuss new approaches being developed to further explore the hypothesis. We conclude by suggesting that the time has come to more substantively examine the possibility that linguistic sound systems are adapted to their physical ecology

Abstract

We begin by thanking the respondents for their thoughtful comments and insightful leads. The overall impression we are left with by this exchange is one of progress, even if no consensus remains about the particular hypothesis we raise. To date, there has been a failure to seriously engage with the possibility that humans might adapt their communication to ecological factors. In these exchanges, we see signs of serious engagement with that possibility. Most respondents expressed agreement with the notion that our central premise—that language is ecologically adaptive—requires further exploration and may in fact be operative. We are pleased to see this shift in discourse, and to witness a heightening appreciation of possible ecological constraints on language evolution. It is that shift in discourse that represents progress in our view. Our hope is that future work will continue to explore these issues, paying careful attention to the fact that the human larynx is clearly sensitive to characteristics of ambient air. More generally, we think this exchange is indicative of the growing realization that inquiries into language development must consider potential external factors (see Dediu 2015)...

Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Abstract

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P<8.5 × 10−5), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia

Abstract

Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.

Abstract

This study investigates the real-time processing of wh-dependencies by advanced Greek-speaking learners of English using a cross-modal picture priming task. Participants were asked to respond to different types of picture target presented either at structurally defined gap positions, or at pre-gap control positions, while listening to sentences containing indirect-object relative clauses. Our results indicate that the learners processed the experimental sentences differently from both adult native speakers of English and monolingual English-speaking children. Contrary to what has been found for native speakers, the learners' response pattern was not influenced by individual working memory differences. Adult second language learners differed from native speakers with a relatively high reading or listening span in that they did not show any evidence of structurally based antecedent reactivation at the point of the indirect object gap. They also differed from low-span native speakers, however, in that they showed evidence of maintained antecedent activation during the processing of the experimental sentences. Whereas the localized priming effect observed in the high-span controls is indicative of trace-based antecedent reactivation in native sentence processing, the results from the Greek-speaking learners support the hypothesis that the mental representations built during non-native language processing lack abstract linguistic structure such as movement traces.

Abstract

A long-standing debate in cognitive neurosciences concerns the effect of music on verbal learning and memory. Research in this field has largely provided conflicting results in both clinical as well as non-clinical populations. Although several studies have shown a positive effect of music on the encoding and retrieval of verbal stimuli, music has also been suggested to hinder mnemonic performance by dividing attention. In an attempt to explain this conflict, we review the most relevant literature on the effects of music on verbal learning and memory. Furthermore, we specify several mechanisms through which music may modulate these cognitive functions. We suggest that the extent to which music boosts these cognitive functions relies on experimental factors, such as the relative complexity of musical and verbal stimuli employed. These factors should be carefully considered in further studies, in order to reliably establish how and when music boosts verbal memory and learning. The answers to these questions are not only crucial for our knowledge of how music influences cognitive and brain functions, but may have important clinical implications. Considering the increasing number of approaches using music as a therapeutic tool, the importance of understanding exactly how music works can no longer be underestimated.

Abstract

Across a wide range of animal taxa, prosodic modulation of the voice can express emotional information and is used to coordinate vocal interactions between multiple individuals. Within a comparative approach to animal communication systems, I hypothesize that the ability for emotional and interactional prosody (EIP) paved the way for the evolution of linguistic prosody – and perhaps also of music, continuing to play a vital role in the acquisition of language. In support of this hypothesis, I review three research fields: (i) empirical studies on the adaptive value of EIP in non-human primates, mammals, songbirds, anurans, and insects; (ii) the beneficial effects of EIP in scaffolding language learning and social development in human infants; (iii) the cognitive relationship between linguistic prosody and the ability for music, which has often been identified as the evolutionary precursor of language.

Abstract

Writing over a century ago, Darwin hypothesized that vocal expression of emotion dates back to our earliest terrestrial ancestors. If this hypothesis is true, we should expect to find cross-species acoustic universals in emotional vocalizations. Studies suggest that acoustic attributes of aroused vocalizations are shared across many mammalian species, and that humans can use these attributes to infer emotional content. But do these acoustic attributes extend to non-mammalian vertebrates? In this study, we asked human participants to judge the emotional content of vocalizations of nine vertebrate species representing three different biological classes—Amphibia, Reptilia (non-aves and aves) and Mammalia. We found that humans are able to identify higher levels of arousal in vocalizations across all species. This result was consistent across different language groups (English, German and Mandarin native speakers), suggesting that this ability is biologically rooted in humans. Our findings indicate that humans use multiple acoustic parameters to infer relative arousal in vocalizations for each species, but mainly rely on fundamental frequency and spectral centre of gravity to identify higher arousal vocalizations across species. These results suggest that fundamental mechanisms of vocal emotional expression are shared among vertebrates and could represent a homologous signalling system.

Abstract

The ability to identify emotional arousal in heterospecific vocalizations may facilitate behaviors that increase survival opportunities. Crucially, this ability may orient inter-species interactions, particularly between humans and other species. Research shows that humans identify emotional arousal in vocalizations across multiple species, such as cats, dogs, and piglets. However, no previous study has addressed humans' ability to identify emotional arousal in silver foxes. Here, we adopted low-and high-arousal calls emitted by three strains of silver fox-Tame, Aggressive, and Unselected-in response to human approach. Tame and Aggressive foxes are genetically selected for friendly and attacking behaviors toward humans, respectively. Unselected foxes show aggressive and fearful behaviors toward humans. These three strains show similar levels of emotional arousal, but different levels of emotional valence in relation to humans. This emotional information is reflected in the acoustic features of the calls. Our data suggest that humans can identify high-arousal calls of Aggressive and Unselected foxes, but not of Tame foxes. Further analyses revealed that, although within each strain different acoustic parameters affect human accuracy in identifying high-arousal calls, spectral center of gravity, harmonic-to-noise ratio, and F0 best predict humans' ability to discriminate high-arousal calls across all strains. Furthermore, we identified in spectral center of gravity and F0 the best predictors for humans' absolute ratings of arousal in each call. Implications for research on the adaptive value of inter-specific eavesdropping are discussed.

Abstract

Humans typically combine linguistic and nonlinguistic information to comprehend emotions. We adopted an emotion identification Stroop task to investigate how different channels interact in emotion communication. In experiment 1, synonyms of “happy” and “sad” were spoken with happy and sad prosody. Participants had more difficulty ignoring prosody than ignoring verbal content. In experiment 2, synonyms of “happy” and “sad” were spoken with happy and sad prosody, while happy or sad faces were displayed. Accuracy was lower when two channels expressed an emotion that was incongruent with the channel participants had to focus on, compared with the cross-channel congruence condition. When participants were required to focus on verbal content, accuracy was significantly lower also when prosody was incongruent with verbal content and face. This suggests that prosody biases emotional verbal content processing, even when conflicting with verbal content and face simultaneously. Implications for multimodal communication and language evolution studies are discussed.

Abstract

Temporal regularities in speech, such as interdependencies in the timing of speech events, are thought to scaffold early acquisition of the building blocks in speech. By providing on-line clues to the location and duration of upcoming syllables, temporal structure may aid segmentation and clustering of continuous speech into separable units. This hypothesis tacitly assumes that learners exploit predictability in the temporal structure of speech. Existing measures of speech timing tend to focus on first-order regularities among adjacent units, and are overly sensitive to idiosyncrasies in the data they describe. Here, we compare several statistical methods on a sample of 18 languages, testing whether syllable occurrence is predictable over time. Rather than looking for differences between languages, we aim to find across languages (using clearly defined acoustic, rather than orthographic, measures), temporal predictability in the speech signal which could be exploited by a language learner. First, we analyse distributional regularities using two novel techniques: a Bayesian ideal learner analysis, and a simple distributional measure. Second, we model higher-order temporal structure—regularities arising in an ordered series of syllable timings—testing the hypothesis that non-adjacent temporal structures may explain the gap between subjectively-perceived temporal regularities, and the absence of universally-accepted lower-order objective measures. Together, our analyses provide limited evidence for predictability at different time scales, though higher-order predictability is difficult to reliably infer. We conclude that temporal predictability in speech may well arise from a combination of individually weak perceptual cues at multiple structural levels, but is challenging to pinpoint.

Abstract

We investigated the effects of word order and prosody on word learning in school-age children. Third graders viewed photographs belonging to one of three semantic categories while hearing four-word nonsense utterances containing a target word. In the control condition, all words had the same pitch and, across trials, the position of the target word was varied systematically within each utterance. The only cue to word–meaning mapping was the co-occurrence of target words and referents. This cue was present in all conditions. In the Utterance-final condition, the target word always occurred in utterance-final position, and at the same fundamental frequency as all the other words of the utterance. In the Pitch peak condition, the position of the target word was varied systematically within each utterance across trials, and produced with pitch contrasts typical of infant-directed speech (IDS). In the Pitch peak + Utterance-final condition, the target word always occurred in utterance-final position, and was marked with a pitch contrast typical of IDS. Word learning occurred in all conditions except the control condition. Moreover, learning performance was significantly higher than that observed with simple co-occurrence (control condition) only for the Pitch peak + Utterance-final condition. We conclude that, for school-age children, the combination of words' utterance-final alignment and pitch enhancement boosts word learning.

Abstract

The rise of genomic technologies has yielded exciting new routes for studying the biological foundations of language. Researchers have begun to identify genes implicated in neurodevelopmental disorders that disrupt speech and language skills. This chapter illustrates how such work can provide powerful entry points into the critical neural pathways using FOXP2 as an example. Rare mutations of this gene cause problems with learning to sequence mouth movements during speech, accompanied by wide-ranging impairments in language production and comprehension. FOXP2 encodes a regulatory protein, a hub in a network of other genes, several of which have also been associated with language-related impairments. Versions of FOXP2 are found in similar form in many vertebrate species; indeed, studies of animals and birds suggest conserved roles in the development and plasticity of certain sets of neural circuits. Thus, the contributions of this gene to human speech and language involve modifications of evolutionarily ancient functions.

Abstract

Why do some children fail to acquire speech and language skills despite adequate environmental input and overtly normal neurological and anatomical development? It has been suspected for several decades, based on indirect evidence, that the human genome might hold some answers to this enigma. These suspicions have recently received dramatic confirmation with the discovery of specific genetic changes which appear sufficient to derail speech and language development. Indeed, researchers are already using information from genetic studies to aid early diagnosis and to shed light on the neural pathways that are perturbed in these inherited forms of speech and language disorder. Thus, we have entered an exciting era for dissecting the neural bases of human communication, one which takes genes and molecules as a starting point. In the current article I explain how this recent paradigm shift has occurred and describe the new vistas that have opened up. I demonstrate ways of bridging the gaps between molecules, neurons and the brain, which will provide a new understanding of the aetiology of speech and language impairments.

Abstract

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

Abstract

Dent's disease, an X-linked renal tubular disorder, is a form of Fanconi syndrome which is characterized by proteinuria, hypercalciuria, nephrocalcinosis, kidney stones and renal failure. Previous studies localised the gene responsible to Xp11.22, within a microdeletion involving the hypervariable locus DXS255. Further analysis using new probes which flank this locus indicate that the deletion is less than 515 kb. A 185 kb YAC containing DXS255 was used to screen a cDNA library from adult kidney in order to isolate coding sequences falling within the deleted region which may be implicated in the disease aetiology. We identified two clones which are evolutionarily conserved, and detect a 9.5 kb transcript which is expressed predominantly in the kidney. Sequence analysis of 780 bp of ORF from the clones suggests that the identified gene, termed hCIC-K2, encodes a new member of the CIC family of voltage-gated chloride channels. Genomic fragments detected by the cDNA clones are completely absent in patients who have an associated microdeletion. On the basis of the expression pattern, proposed function and deletion mapping, hCIC-K2 is a strong candidate for Dent's disease.

Abstract

The post-genomic era is an exciting time for researchers interested in the biology of speech and language. Substantive advances in molecular methodologies have opened up entire vistas of investigation that were not previously possible, or in some cases even imagined. Speculations concerning the origins of human cognitive traits are being transformed into empirically addressable questions, generating specific hypotheses that can be explicitly tested using data collected from both the natural world and experimental settings. In this article, I discuss a number of promising lines of research in this area. For example, the field has begun to identify genes implicated in speech and language skills, including not just disorders but also the normal range of abilities. Such genes provide powerful entry points for gaining insights into neural bases and evolutionary origins, using sophisticated experimental tools from molecular neuroscience and developmental neurobiology. At the same time, sequencing of ancient hominin genomes is giving us an unprecedented view of the molecular genetic changes that have occurred during the evolution of our species. Synthesis of data from these complementary sources offers an opportunity to robustly evaluate alternative accounts of language evolution. Of course, this endeavour remains challenging on many fronts, as I also highlight in the article. Nonetheless, such an integrated approach holds great potential for untangling the complexities of the capacities that make us human.