Publications

Abstract

Phonological patterns in languages often involve groups of sounds rather than individual sounds, which may be explained if phonology operates on the abstract features shared by those groups (Troubetzkoy, 193957. Troubetzkoy , N. 1939/1969 . Principles of phonology , Berkeley : University of California Press . View all references/1969; Chomsky & Halle, 19688. Chomsky , N. and Halle , M. 1968 . The sound pattern of English , New York : Harper and Row . View all references). Such abstract features may be present in the developing grammar either because they are part of a Universal Grammar included in the genetic endowment of humans (e.g., Hale, Kissock and Reiss, 200618. Hale , M. , Kissock , M. and Reiss , C. 2006 . Microvariation, variation, and the features of universal grammar . Lingua , 32 : 402 – 420 . View all references), or plausibly because infants induce features from their linguistic experience (e.g., Mielke, 200438. Mielke , J. 2004 . The emergence of distinctive features , Ohio State University : Unpublished doctoral dissertation . View all references). A first experiment tested 7-month-old infants' learning of an artificial grammar pattern involving either a set of sounds defined by a phonological feature, or a set of sounds that cannot be described with a single feature—an “arbitrary” set. Infants were able to induce the constraint and generalize it to a novel sound only for the set that shared the phonological feature. A second study showed that infants' inability to learn the arbitrary grouping was not due to their inability to encode a constraint on some of the sounds involved.

Abstract

People in Western cultures are poor at naming smells and flavors. However, for wine and
coffee experts, describing smells and flavors is part of their daily routine. So are experts bet-
ter than lay people at conveying smells and flavors in language? If smells and flavors are
more easily linguistically expressed by experts, or more
“
codable
”
, then experts should be
better than novices at describing smells and flavors. If experts are indeed better, we can
also ask how general this advantage is: do experts show higher codability only for smells
and flavors they are expert in (i.e., wine experts for wine and coffee experts for coffee) or is
their linguistic dexterity more general? To address these questions, wine experts, coffee
experts, and novices were asked to describe the smell and flavor of wines, coffees, every-
day odors, and basic tastes. The resulting descriptions were compared on a number of
measures. We found expertise endows a modest advantage in smell and flavor naming.
Wine experts showed more consistency in how they described wine smells and flavors than
coffee experts, and novices; but coffee experts were not more consistent for coffee descriptions. Neither expert group was any more accurate at identifying everyday smells or tastes. Interestingly, both wine and coffee experts tended to use more source-based terms (e.g., vanilla) in descriptions of their own area of expertise whereas novices tended to use more
evaluative terms (e.g.,nice). However, the overall linguistic strategies for both groups were en par. To conclude, experts only have a limited, domain-specific advantage when communicating about smells and flavors. The ability to communicate about smells and flavors is a matter not only of perceptual training, but specific linguistic training too

Abstract

Whether the opportunity to breed and rear young improves the welfare of captive animals is currently debated. However, there is very little empirical data available to evaluate this relationship and this study is a first attempt to contribute objective data to this debate. We utilized the existing variation in the reproductive experiences of sanctuary chimpanzees at Chimfunshi Wildlife Orphanage Trust in Zambia to investigate whether breeding and rearing young was associated with improved welfare for adult females (N = 43). We considered several behavioural welfare indicators, including rates of luxury behaviours and abnormal or stress-related behaviours under normal conditions and conditions inducing social stress. Furthermore, we investigated whether spending time with young was associated with good or poor welfare for adult females, regardless of their kin relationship. We used generalized linear mixed models and found no difference between adult females with and without dependent young on any welfare indices, nor did we find that time spent in proximity to unrelated young predicted welfare (all full-null model comparisons likelihood ratio tests P > 0.05). However, we did find that coprophagy was more prevalent among mother-reared than non-mother-reared individuals, in line with recent work suggesting this behaviour may have a different etiology than other behaviours often considered to be abnormal. In sum, the findings from this initial study lend support to the hypothesis that the opportunity to breed and rear young does not provide a welfare benefit for chimpanzees in captivity. We hope this investigation provides a valuable starting point for empirical study into the welfare implications of managed breeding.

Abstract

To meet their exhibition, conservation, education, and scientific goals, members of the American Zoo and Aquarium Association (AZA) collaborate to manage their living collections as single species populations. These cooperative population management programs, Species Survival Planss (SSP) and Population Management Plans (PMP), issue specimen-by-specimen recommendations aimed at perpetuating captive populations by maintaining genetic diversity and demographic stability. Species Survival Plans and PMPs differ in that SSP participants agree to complete recommendations, whereas PMP participants need only take recommendations under advisement. We evaluated the effect of program type and the number of participating institutions on the success of actions recommended by the Population Management Center (PMC): transfers of specimens between institutions, breeding, and target number of offspring. We analyzed AZA studbook databases for the occurrence of recommended or unrecommended transfers and births during the 1-year period after the distribution of standard AZA Breeding-and-Transfer Plans. We had three major findings: 1) on average, both SSPs and PMPs fell about 25% short of their target; however, as the number of participating institutions increased so too did the likelihood that programs met or exceeded their target; 2) SSPs exhibited significantly greater transfer success than PMPs, although transfer success for both program types was below 50%; and 3) SSPs exhibited significantly greater breeding success than PMPs, although breeding success for both program types was below 20%. Together, these results indicate that the science and sophistication behind genetic and demographic management of captive populations may be compromised by the challenges of implementation.

Abstract

Cooperation among nonhuman animals has been the topic of much theoretical and empirical research, but few studies have examined systematically the effects of various reward payoffs on cooperative behaviour. Here, we presented heterosexual pairs of cooperatively breeding cottontop tamarins with a cooperative problem-solving task. In a series of four experiments, we examined how the tamarins’ cooperative performance changed under conditions in which (1) both actors were mutually rewarded, (2) both actors were rewarded reciprocally across days, (3) both actors competed for a monopolizable reward and (4) one actor repeatedly delivered a single reward to the other actor. The tamarins showed sensitivity to the reward structure, showing the greatest percentage of trials solved and shortest latency to solve the task in the mutual reward experiment and the lowest percentage of trials solved and longest latency to solve the task in the experiment in which one actor was repeatedly rewarded. However, even in the experiment in which the fewest trials were solved, the tamarins still solved 46 _ 12% of trials and little to no aggression was observed among partners following inequitable reward distributions. The tamarins did, however, show selfish motivation in each of the experiments. Nevertheless, in all experiments, unrewarded individuals continued to cooperate and procure rewards for their social partners.

Abstract

Speech processing by human listeners derives meaning from acoustic input via intermediate steps involving abstract representations of what has been heard. Recent results from several lines of research are here brought together to shed light on the nature and role of these representations. In spoken-word recognition, representations of phonological form and of conceptual content are dissociable. This follows from the independence of patterns of priming for a word's form and its meaning. The nature of the phonological-form representations is determined not only by acoustic-phonetic input but also by other sources of information, including metalinguistic knowledge. This follows from evidence that listeners can store two forms as different without showing any evidence of being able to detect the difference in question when they listen to speech. The lexical representations are in turn separate from prelexical representations, which are also abstract in nature. This follows from evidence that perceptual learning about speaker-specific phoneme realization, induced on the basis of a few words, generalizes across the whole lexicon to inform the recognition of all words containing the same phoneme. The efficiency of human speech processing has its basis in the rapid execution of operations over abstract representations.

Abstract

Not only can the pitfalls that Firestone & Scholl (F&S) identify be generalised across multiple studies within the field of visual perception, but also they have general application outside the field wherever perceptual and cognitive processing are compared. We call attention to the widespread susceptibility of research on the perception of speech to versions of the same pitfalls.

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

Speech recognition in noise is harder in second (L2) than first languages (L1). This could be because noise disrupts speech processing more in L2 than L1, or because L1 listeners recover better though disruption is equivalent. Two similar prior studies produced discrepant results: Equivalent noise effects for L1 and L2 (Dutch) listeners, versus larger effects for L2 (Spanish) than L1. To explain this, the latter experiment was presented to listeners from the former population. Larger noise effects on consonant identification emerged for L2 (Dutch) than L1 listeners, suggesting that task factors rather than L2 population differences underlie the results discrepancy.

Abstract

The mapping of phonetic information to lexical representations in second-language (L2) listening was examined using an eyetracking paradigm. Japanese listeners followed instructions in English to click on pictures in a display. When instructed to click on a picture of a rocket, they experienced interference when a picture of a locker was present, that is, they tended to look at the locker instead. However, when instructed to click on the locker, they were unlikely to look at the rocket. This asymmetry is consistent with a similar asymmetry previously observed in Dutch listeners’ mapping of English vowel contrasts to lexical representations. The results suggest that L2 listeners may maintain a distinction between two phonetic categories of the L2 in their lexical representations, even though their phonetic processing is incapable of delivering the perceptual discrimination required for correct mapping to the lexical distinction. At the phonetic processing level, one of the L2 categories is dominant; the present results suggest that dominance is determined by acoustic–phonetic proximity to the nearest L1 category. At the lexical processing level, representations containing this dominant category are more likely than representations containing the non-dominant category to be correctly contacted by the phonetic input.

Abstract

In three experiments, the processing of lexical tone in Cantonese was examined. Cantonese listeners more often accepted a nonword as a word when the only difference between the nonword and the word was in tone, especially when the F0 onset difference between correct and erroneous tone was small. Same–different judgments by these listeners were also slower and less accurate when the only difference between two syllables was in tone, and this was true whether the F0 onset difference between the two tones was large or small. Listeners with no knowledge of Cantonese produced essentially the same same-different judgment pattern as that produced by the native listeners, suggesting that the results display the effects of simple perceptual processing rather than of linguistic knowledge. It is argued that the processing of lexical tone distinctions may be slowed, relative to the processing of segmental distinctions, and that, in speeded-response tasks, tone is thus more likely to be misprocessed than is segmental structure.

Abstract

Research on the exploitation of prosodic information in the recognition of spoken language is reviewed. The research falls into three main areas: the use of prosody in the recognition of spoken words, in which most attention has been paid to the question of whether the prosodic structure of a word plays a role in initial contact with stored lexical representations; the use of prosody in the computation of syntactic structure, in which the resolution of global and local ambiguities has formed the central focus; and the role of prosody in the processing of discourse structure, in which there has been a preponderance of work on the contribution of accentuation and deaccentuation to integration of concepts with an existing discourse model. The review reveals that in each area progress has been made towards new conceptions of prosody's role in processing, and in particular this has involved abandonment of previously held deterministic views of the relationship between prosodic structure and other aspects of linguistic structure

Abstract

Psycholinguists strive to construct a model of human language processing in general. But this does not imply that they should confine their research to universal aspects of linguistic structure, and avoid research on language-specific phenomena. First, even universal characteristics of language structure can only be accurately observed cross-linguistically. This point is illustrated here by research on the role of the syllable in spoken-word recognition, on the perceptual processing of vowels versus consonants, and on the contribution of phonetic assimilation phonemena to phoneme identification. In each case, it is only by looking at the pattern of effects across languages that it is possible to understand the general principle. Second, language-specific processing can certainly shed light on the universal model of language comprehension. This second point is illustrated by studies of the exploitation of vowel harmony in the lexical segmentation of Finnish, of the recognition of Dutch words with and without vowel epenthesis, and of the contribution of different kinds of lexical prosodic structure (tone, pitch accent, stress) to the initial activation of candidate words in lexical access. In each case, aspects of the universal processing model are revealed by analysis of these language-specific effects. In short, the study of spoken-language processing by human listeners requires cross-linguistic comparison.

Abstract

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

Abstract

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

Abstract

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

In the present study, we explore whether multiple data sources may be more effective than single sources at predicting the words that language learners are likely to know. Second language researchers have hypothesized that there is a relationship between word frequency and the likelihood that words will be encountered or used by second language learners, but it is not yet clear how this relationship should be effectively measured. An analysis of word frequency measures showed that spoken language frequency alone may predict the occurrence of words in learner textbooks, but that multiple corpora as well as textbook status can improve predictions of learner usage.

Abstract

A response to Moving Beyond Nature-Nurture: a Problem of Science or Communication? by John Spencer, Mark Blumberg and David Shenk

Abstract

Interest in the origins and evolution of language has been around for as long as language has been around. However, only recently has the empirical study of language come of age. We argue that the field has sufficiently advanced that it now needs its own journal—the Journal of Language Evolution.

Abstract

Our understanding of language, its origins and subsequent evolution (including language change) is shaped not only by data and theories from the language sciences, but also fundamentally by the biological sciences. Recent developments in genetics and evolutionary theory offer both very strong constraints on what scenarios of language evolution are possible and probable but also offer exciting opportunities for understanding otherwise puzzling phenomena. Due to the intrinsic breathtaking rate of advancement in these fields, the complexity, subtlety and sometimes apparent non-intuitiveness of the phenomena discovered, some of these recent developments have either being completely missed by language scientists, or misperceived and misrepresented. In this short paper, we offer an update on some of these findings and theoretical developments through a selection of illustrative examples and discussions that cast new light on current debates in the language sciences. The main message of our paper is that life is much more complex and nuanced than anybody could have predicted even a few decades ago, and that we need to be flexible in our theorizing instead of embracing a priori dogmas and trying to patch paradigms that are no longer satisfactory.

Abstract

It has recently been proposed (Dediu, D., Ladd, D.R., 2007. Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin. Proc Natl Acad Sci USA 104, 10944-10949) that genetically coded linguistic biases can influence the trajectory of language change. However, the nature of such biases and the conditions under which they can become manifest have remained vague. The present paper explores computationally two plausible types of linguistic acquisition biases in a population of agents implementing realistic genetic, linguistic and demographic processes. One type of bias represents an innate asymmetric initial state (Initial Expectation bias) while the other an innate asymmetric facility of acquisition (Rate of Learning bias). It was found that only the second type of bias produces detectable effects on language through cultural transmission across generations and that such effects are produced even by weak biases present at low frequencies in the population. This suggests that learning preference asymmetries, very small at the individual level and not very frequent at the population level, can bias the trajectory of language change through the process of 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

Prion diseases are fatal neurodegenerative disorders that include Creutzfeldt-Jakob disease in humans and bovine spongiform encephalopathy in animals. They are unique in terms of their biology because they are caused by the conformational re-arrangement of a normal host-encoded prion protein, PrPC, to an abnormal infectious isoform, PrPSc. Currently the precise mechanism behind prion-mediated neurodegeneration remains unclear. It is hypothesised than an unknown toxic gain of function of PrPSc, or an intermediate oligomeric form, underlies neuronal death. Increasing evidence suggests a role for the ubiquitin proteasome system (UPS) in prion disease. Both wild-type PrPC and disease-associated PrP isoforms accumulate in cells after proteasome inhibition leading to increased cell death, and abnormal beta-sheet-rich PrP isoforms have been shown to inhibit the catalytic activity of the proteasome. Here we review potential interactions between prions and the proteasome outlining how the UPS may be implicated in prion-mediated neurodegeneration.

Abstract

Desmet, Brysbaert, and De Baecke (2002a) showed that the production of relative clauses following two potential attachment hosts (e.g., ‘Someone shot the servant of the actress who was on the balcony’) was influenced by the animacy of the first host. These results were important because they refuted evidence from Dutch against experience-based accounts of syntactic ambiguity resolution, such as the tuning hypothesis. However, Desmet et al. did not provide direct evidence in favour of tuning, because their study focused on production and did not include reading experiments. In the present paper this line of research was extended. A corpus analysis and an eye-tracking experiment revealed that when taking into account lexical properties of the NP host sites (i.e., animacy and concreteness) the frequency pattern and the on-line comprehension of the relative clause attachment ambiguity do correspond. The implications for exposure-based accounts of sentence processing are discussed.

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

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

It is widely assumed that ultimate attainment in adult second language (L2) learners often differs quite radically from ultimate attainment in child L2 learners. This article addresses the question of whether learners at different ages also show qualitative differences in the process of L2 acquisition. Longitudinal production data from two untutored Russian beginners (ages 8 and 14) acquiring German under roughly similar conditions are compared to published results on the acquisition of German by adult immigrants. The study focuses on the acquisition of negation and finiteness as core domains of German sentence grammar. Adult learners have been shown to produce an early nonfinite learner variety in which utterance organization relies on principles of information structure rather than on target language grammar. They then go through a couple of intermediate steps in which, first, semantically empty verbs (auxiliaries) serve as isolated carriers of finiteness before lexical verbs become finite. Whereas the 14-year-old learner of this case study basically shows a developmental pattern similar to that of adults, the 8-year-old child produces a different order of acquisition: Not only is the development of finite morphology faster, but finite lexical verbs are acquired before auxiliary constructions (Perfekt). Results suggest a stronger tendency for young learners to incrementally assimilate input patterns without relying on analytic steps guided by principles of information organization to the same extent as older learners.

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

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

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 paper presents the methods of language documentation as applied in the Awetí Language Documentation Project, one of the projects in the Documentation of Endangered Languages Programme (DOBES). It describes the steps of how a large digital corpus of annotated multi-media data is built. Special attention is devoted to the format of annotation of linguistic data. The Advanced Glossing format is presented and justified

Abstract

1. Object: Awetí and the ‘Mawetí-Guaraní’ subfamily “Mawetí-Guaraní” is a shorter designation of a branch of the large Tupí language family, alongside with eight other branches or subfamilies. This branch in turn consists internally of the languages (Sateré-) Mawé and Awetí and the large Tupí-Guaraní subfamily, and so its explicit but longish name could be “Mawé-Awetí-Tupí-Guaraní” (MTAG). This genetic grouping has already been suggested (without any specific designation) by A. D. Rodrigues (e.g., 1984/85; Rodrigues and Dietrich 1997), and, more recently, it has been confirmed by comparative studies (Corrêa da Silva 2007; Drude 2006; Meira and Drude in prep.), which also more reliably establish the most probable internal ramification, according to which Mawé separated first, whereas the differentiation between Awetí, on the one hand, and the precursor of the Tupí-Guaraní (TG) subfamily, proto-Tupí-Guaraní (pTG), on the other, would have been more recent. The intermediate branch could be named “Awetí-Tupí-Guaraní” (“Awetí-TG” or “ATG”). Figure 1 shows the internal grouping of the Tupí family according to results of the Tupí Comparative Project under D. Moore at the Museu Goeldi (2000–2006).

Abstract

Using various methods derived from evolutionary biology, including maximum parsimony and Bayesian phylogenetic analysis, we tackle the question of the relationships among a group of Papuan isolate languages that have hitherto resisted accepted attempts at demonstration of interrelatedness. Instead of using existing vocabulary-based methods, which cannot be applied to these languages due to the paucity of shared lexemes, we created a database of STRUCTURAL FEATURES—abstract phonological and grammatical features apart from their form. The methods are first tested on the closely related Oceanic languages spoken in the same region as the Papuan languages in question. We find that using biological methods on structural features can recapitulate the results of the comparative method tree for the Oceanic languages, thus showing that structural features can be a valid way of extracting linguistic history. Application of the same methods to the otherwise unrelatable Papuan languages is therefore likely to be similarly valid. Because languages that have been in contact for protracted periods may also converge, we outline additional methods for distinguishing convergence from inherited relatedness.

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

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

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

Perceptual representations of phonemes are flexible and adapt rapidly to accommodate idiosyncratic articulation in the speech of a particular talker. This letter addresses whether such adjustments remain stable over time and under exposure to other talkers. During exposure to a story, listeners learned to interpret an ambiguous sound as [f] or [s]. Perceptual adjustments measured after 12 h were as robust as those measured immediately after learning. Equivalent effects were found when listeners heard speech from other talkers in the 12 h interval, and when they had the opportunity to consolidate learning during sleep.

Abstract

To develop a nuanced account for selection within an epidemiological, population-based model of language contact and change, it is useful to consider possible conduits and filters on linguistic transmission and distribution. Richerson & Boyd (2005) describe a number of candidate biases in their evolutionary analysis of culture as a biological phenomenon (cf. Cavalli-Sforza & Feldman 1981, Sperber 1985, 1999, Boyd & Richerson 2005). This paper explores some of these biases with reference to language, exploring a set of analytic distinctions for a proper understanding of population-level linguistic processes. In putting forward these ideas, this paper echoes recent attempts to combine linguistic and biological concepts in the analysis of language diversity and change.

Abstract

The domain of the human body is an ideal focus for semantic typology, since the body is a physical universal and all languages have terms referring to its parts. Previous research on body part terms has depended on secondary sources (e.g. dictionaries), and has lacked sufficient detail or clarity for a thorough understanding of these terms’ semantics. The present special issue is the outcome of a collaborative project aimed at improving approaches to investigating the semantics of body part terms, by developing materials to elicit information that provides for cross-linguistic comparison. The articles in this volume are original fieldwork-based descriptions of terminology for parts of the body in ten languages. Also included are an elicitation guide and experimental protocol used in gathering data. The contributions provide inventories of body part terms in each language, with analysis of both intensional and extensional aspects of meaning, differences in morphological complexity, semantic relations among terms, and discussion of partonomic structure within the domain.

Abstract

This document is intended for use as an elicitation guide for the field linguist consulting with native speakers in collecting terms for parts of the body, and in the exploration of their semantics.

Abstract

Different domains of concrete referential semantics have provided testing grounds for investigation of the differential roles of perception, cognition, language, and culture in human categorization. A vast literature on semantics of biological classification, color, shape and topological relations, artifacts, and more, raises a range of theoretical and analytical debates. This article uses landscape terms to address a key debate from within research on ethnobiological classification: the opposition between so-called utilitarian and intellectualist accounts for patterns of lexicalization of the natural world [Berlin, B., 1992. Ethnobiological Classification: Principles of Categorization of Plants and Animals in Traditional Societies. Princeton University Press, Princeton, NJ]. ‘Utilitarianists’ argue that lexical categories reflect practical consequences of knowing certain category distinctions, related to cultural practice and functional affordances of referents. ‘Intellectualists’ argue that lexical categories reflect people’s innate interest in the natural world, combined with the perceptual discontinuities supplied by ‘Nature’s Plan’. The debate is generalizable to other domains, including landscape terminology, the topic of this special issue. This article brings landscape terminology into this larger debate, arguing in favor of a utilitarian account of linguistic categories in the domain of landscape, but proposing a significant revision to the concept of utility in linguistic categorization. The proposal is that for linguistic categorization, what is at issue is not (primarily) the utility of the referent (e.g. a river), but the utility of the word (e.g. the English word river). By considering how landscape terms are actually used in conversation, we see that they are deployed in communicative contexts which fit a rich, ‘functionalist’ semantics. A landscape term is not employed for mere referring, but functions to bring particular associated ideas into social discourse. In turn, language use reveals a range of evidence for the semantic content of any such term, of utility both to the language learner and to the semanticist. This kind of evidence can be argued to underlie the acquisition of semantic categories in language learning. The arguments are illustrated with examples from Lao, a Tai language of mainland Southeast Asia.

Abstract

Language is shaped by its environment, which includes not only the brain, but also the public context in which speech acts are effected. To fully account for why language has the shape it has, we need to examine the constraints imposed by language use as a sequentially organized joint activity, and as the very conduit for linguistic diffusion and change.

Abstract

Abstract: This paper reviews current discussion of the issue of just what is lost when a language dies. Special reference is made to the current situation in Laos, a country renowned for its considerable cultural and linguistic diversity. It focuses on the historical, anthropological and ecological knowledge that a language can encode, and the social and cultural consequences of the loss of such traditional knowledge when a language is no longer passed on. Finally, the article points out the paucity of studies and obstacles to field research on minority languages in Laos, which seriously hamper their documentation.

Abstract

This article presents a description of nominal expressions for parts of the human body conventionalised in Lao, a Southwestern Tai language spoken in Laos, Northeast Thailand, and Northeast Cambodia. An inventory of around 170 Lao expressions is listed, with commentary where some notability is determined, usually based on explicit comparison to the metalanguage, English. Notes on aspects of the grammatical and semantic structure of the set of body part terms are provided, including a discussion of semantic relations pertaining among members of the set of body part terms. I conclude that the semantic relations which pertain between terms for different parts of the body not only include part/whole relations, but also relations of location, connectedness, and general association. Calling the whole system a ‘partonomy’ attributes greater centrality to the part/whole relation than is warranted.

Abstract

In mainstream phonology, contrastive properties, like stem-final voicing, are simply listed in the lexicon. This article reviews experimental evidence that such contrastive properties may be predictable to some degree and that the relevant statistically gradient generalizations form an inherent part of the grammar. The evidence comes from the underlying voice specification of stem-final obstruents in Dutch. Contrary to received wisdom, this voice specification is partly predictable from the obstruent’s manner and place of articulation and from the phonological properties of the preceding segments. The degree of predictability, which depends on the exact contents of the lexicon, directs speakers’ guesses of underlying voice specifications. Moreover, existing words that disobey the generalizations are disadvantaged by being recognized and produced more slowly and less accurately, also under natural conditions.We discuss how these observations can be accounted for in two types of different approaches to grammar, Stochastic Optimality Theory and exemplar-based modeling.

Abstract

This study addresses the extent to which the location of primary stress in Dutch, German, and English monomorphemic words is affected by the syllables preceding the three final syllables. We present analyses of the monomorphemic words in the CELEX lexical database, which showed that penultimate primary stress is less frequent in Dutch and English trisyllabic than quadrisyllabic words. In addition, we discuss paper-and-pencil experiments in which native speakers assigned primary stress to pseudowords. These experiments provided evidence that in all three languages penultimate stress is more likely in quadrisyllabic than in trisyllabic words. We explain this length effect with the preferences in these languages for word-initial stress and for alternating patterns of stressed and unstressed syllables. The experimental data also showed important intra- and interspeaker variation, and they thus form a challenging test case for theories of language variation.

Abstract

Acoustic duration and degree of vowel reduction are known to correlate with a word’s frequency of occurrence. The present study broadens the research on the role of frequency in speech production to voice assimilation. The test case was regressive voice assimilation in Dutch. Clusters from a corpus of read speech were more often perceived as unassimilated in lower-frequency words and as either completely voiced regressive assimilation or, unexpectedly, as completely voiceless progressive assimilation in higher-frequency words. Frequency did not predict the voice classifications over and above important acoustic cues to voicing, suggesting that the frequency effects on the classifications were carried exclusively by the acoustic signal. The duration of the cluster and the period of glottal vibration during the cluster decreased while the duration of the release noises increased with frequency. This indicates that speakers reduce articulatory effort for higher-frequency words, with some acoustic cues signaling more voicing and others less voicing. A higher frequency leads not only to acoustic reduction but also to more assimilation.

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

The lexical and phonetic mapping of auditorily confusable L2 nonwords was examined by teaching L2 learners novel words and by later examining their word recognition using an eye-tracking paradigm. During word learning, two groups of highly proficient Dutch learners of English learned 20 English nonwords, of which 10 contained the English contrast /e/-æ/ (a confusable contrast for native Dutch speakers). One group of subjects learned the words by matching their auditory forms to pictured meanings, while a second group additionally saw the spelled forms of the words. We found that the group who received only auditory forms confused words containing /æ/ and /e/ symmetrically, i.e., both /æ/ and /e/ auditory tokens triggered looks to pictures containing both /æ/ and /e/. In contrast, the group who also had access to spelled forms showed the same asymmetric word recognition pattern found by previous studies, i.e., they only looked at pictures of words containing /e/ when presented with /e/ target tokens, but looked at pictures of words containing both /æ/ and /e/ when presented with /æ/ target tokens. The results demonstrate that L2 learners can form lexical contrasts for auditorily confusable novel L2 words. However, and most importantly, this study suggests that explicit information over the contrastive nature of two new sounds may be needed to build separate lexical representations for similar-sounding L2 words.

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

Deficits in phonological short-term memory and aspects of verb grammar morphology have been proposed as phenotypic markers of specific language impairment (SLI) with the suggestion that these traits are likely to be under different genetic influences. This investigation in 300 first-degree relatives of 93 probands with SLI examined familial aggregation and genetic linkage of two measures thought to index these two traits, non-word repetition and tense marking. In particular, the involvement of chromosomes 16q and 19q was examined as previous studies found these two regions to be related to SLI. Results showed a strong association between relatives' and probands' scores on non-word repetition. In contrast, no association was found for tense marking when examined as a continuous measure. However, significant familial aggregation was found when tense marking was treated as a binary measure with a cut-off point of -1.5 SD, suggestive of the possibility that qualitative distinctions in the trait may be familial while quantitative variability may be more a consequence of non-familial factors. Linkage analyses supported previous findings of the SLI Consortium of linkage to chromosome 16q for phonological short-term memory and to chromosome 19q for expressive language. In addition, we report new findings that relate to the past tense phenotype. For the continuous measure, linkage was found on both chromosomes, but evidence was stronger on chromosome 19. For the binary measure, linkage was observed on chromosome 19 but not on chromosome 16.

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

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

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

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

Abstract

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

Abstract

Studies of dyslexia provide vital insights into the cognitive architecture underpinning both disordered and normal reading. It is well established that inherited factors contribute to dyslexia susceptibility, but only very recently has evidence emerged to implicate specific candidate genes. In this article, we provide an accessible overview of four prominent examples--DYX1C1, KIAA0319, DCDC2 and ROBO1--and discuss their relevance for cognition. In each case correlations have been found between genetic variation and reading impairments, but precise risk variants remain elusive. Although none of these genes is specific to reading-related neuronal circuits, or even to the human brain, they have intriguing roles in neuronal migration or connectivity. Dissection of cognitive mechanisms that subserve reading will ultimately depend on an integrated approach, uniting data from genetic investigations, behavioural studies and neuroimaging.

Abstract

The rise of molecular genetics is having a pervasive influence in a wide variety of fields, including research into neurodevelopmental disorders like dyslexia, speech and language impairments, and autism. There are many studies underway which are attempting to determine the roles of genetic factors in the aetiology of these disorders. Beyond the obvious implications for diagnosis, treatment and understanding, success in these efforts promises to shed light on the links between genes and aspects of cognition and behaviour. However, the deceptive simplicity of finding correlations between genetic and phenotypic variation has led to a common misconception that there exist straightforward linear relationships between specific genes and particular behavioural and/or cognitive outputs. The problem is exacerbated by the adoption of an abstract view of the nature of the gene, without consideration of molecular, developmental or ontogenetic frameworks. To illustrate the limitations of this perspective, I select two cases from recent research into the genetic underpinnings of neurodevelopmental disorders. First, I discuss the proposal that dyslexia can be dissected into distinct components specified by different genes. Second, I review the story of the FOXP2 gene and its role in human speech and language. In both cases, adoption of an abstract concept of the gene can lead to erroneous conclusions, which are incompatible with current knowledge of molecular and developmental systems. Genes do not specify behaviours or cognitive processes; they make regulatory factors, signalling molecules, receptors, enzymes, and so on, that interact in highly complex networks, modulated by environmental influences, in order to build and maintain the brain. I propose that it is necessary for us to fully embrace the complexity of biological systems, if we are ever to untangle the webs that link genes to cognition.

Abstract

The human capacity to acquire complex language seems to be without parallel in the natural world. The origins of this remarkable trait have long resisted adequate explanation, but advances in fields that range from molecular genetics to cognitive neuroscience offer new promise. Here we synthesize recent developments in linguistics, psychology and neuroimaging with progress in comparative genomics, gene-expression profiling and studies of developmental disorders. We argue that language should be viewed not as a wholesale innovation, but as a complex reconfiguration of ancestral systems that have been adapted in evolutionarily novel ways.

Abstract

The human Xp11.23-p11.22 interval has been implicated in several inherited diseases including Wiskott-Aldrich syndrome; three forms of X-linked hypercalciuric nephrolithiaisis; and the eye disorders retinitis pigmentosa 2, congenital stationary night blindness, and Aland Island eye disease. In constructing YAC contigs spanning Xp11. 23-p11.22, we have previously shown that the region around the synaptophysin (SYP) gene is refractory to cloning in YACs, but highly stable in cosmids. Preliminary analysis of the latter suggested that this might reflect a high density of coding sequences and we therefore undertook the complete sequencing of a SYP-containing cosmid. Sequence data were extensively analyzed using computer programs such as CENSOR (to mask repeats), BLAST (for homology searches), and GRAIL and GENE-ID (to predict exons). This revealed the presence of 29 putative exons, organized into three genes, in addition to the 7 exons of the complete SYP coding region, all mapping within a 44-kb interval. Two genes are novel, one (CACNA1F) showing high homology to alpha1 subunits of calcium channels, the other (LMO6) encoding a product with significant similarity to LIM-domain proteins. RT-PCR and Northern blot studies confirmed that these loci are indeed transcribed. The third locus is the previously described, but not previously localized, A4 differentiation-dependent gene. Given that the intron-exon boundaries predicted by the analysis are consistent with previous information where available, we have been able to suggest the genomic organization of the novel genes with some confidence. The region has an elevated GC content (>53%), and we identified CpG islands associated with the 5' ends of SYP, A4, and LMO6. The order of loci was Xpter-A4-LMO6-SYP-CACNA1F-Xcen, with intergenic distances ranging from approximately 300 bp to approximately 5 kb. The density of transcribed sequences in this area (>80%) is comparable to that found in the highly gene-rich chromosomal band Xq28. Further studies may aid our understanding of the long-range organization surrounding such gene-enriched regions.