Publications

Abstract

Speaking begins with the formulation of an intended preverbal message and linguistic encoding of this information. The transition from thought to speech occurs incrementally, with cascading planning at subsequent levels of production. In this article, we aim to specify the mechanisms that support incremental message preparation. We contrast two hypotheses about the mechanisms responsible for incorporating message-level information into a linguistic plan. According to the Initial Preparation view, messages can be encoded as fluent utterances if all information is ready before speaking begins. By contrast, on the Continuous Incrementality view, messages can be continually prepared and updated throughout the production process, allowing for fluent production even if new information is added to the message while speaking is underway. Testing these hypotheses, eye-tracked speakers in two experiments produced unscripted, conjoined noun phrases with modifiers. Both experiments showed that new message elements can be incrementally incorporated into the utterance even after articulation begins, consistent with a Continuous Incrementality view of message planning, in which messages percolate to linguistic encoding immediately as that information becomes available in the mind of the speaker. We conclude by discussing the functional role of incremental message planning in conversational speech and the situations in which this continuous incremental planning would be most likely to be observed

Abstract

Genes of the Major Histocompatibility Complex (MHC) have recently been shown to have neuronal functions in the thalamus and hippocampus. Common genetic variants in the Human Leukocyte Antigens (HLA) region, human homologue of the MHC locus, are associated with small effects on susceptibility to schizophrenia, while volumetric changes of the thalamus and hippocampus have also been linked to schizophrenia. We therefore investigated whether common variants of the HLA would affect volumetric variation of the thalamus and hippocampus. We analyzed thalamus and hippocampus volumes, as measured using structural magnetic resonance imaging, in 1.265 healthy participants. These participants had also been genotyped using genome-wide single nucleotide polymorphism (SNP) arrays. We imputed genotypes for single nucleotide polymorphisms at high density across the HLA locus, as well as HLA allotypes and HLA amino acids, by use of a reference population dataset that was specifically targeted to the HLA region. We detected a significant association of the SNP rs17194174 with thalamus volume (nominal P=0.0000017, corrected P=0.0039), as well as additional SNPs within the same region of linkage disequilibrium. This effect was largely lateralized to the left thalamus and is localized within a genomic region previously associated with schizophrenia. The associated SNPs are also clustered within a potential regulatory element, and a region of linkage disequilibrium that spans genes expressed in the thalamus, including HLA-A. Our data indicate that genetic variation within the HLA region influences the volume and asymmetry of the human thalamus. The molecular mechanisms underlying this association may relate to HLA influences on susceptibility to schizophrenia

Abstract

Several neurodevelopmental disorders are associated with preference for routine and challenging behavior following changes to routines. We examine individuals with Prader–Willi syndrome, who show elevated levels of this behavior, to better understand how previous experience of a routine can affect challenging behavior elicited by disruption to that routine. Play based challenges exposed 16 participants to routines, which were either adhered to or changed. Temper outburst behaviors, heart rate and movement were measured. As participants were exposed to routines for longer before a change (between 10 and 80 min; within participants), more temper outburst behaviors were elicited by changes. Increased emotional arousal was also elicited, which was indexed by heart rate increases not driven by movement. Further study will be important to understand whether current intervention approaches that limit exposure to changes, may benefit from the structured integration of flexibility to ensure that the opportunity for routine establishment is also limited.

Abstract

This study examined whether musical training, ethnicity, and experience with a natural tone language influenced sensitivity to tone while listening to an artificial tone language. The language was designed with three tones, modeled after level-tone African languages. Participants listened to a 15-min random concatenation of six 3-syllable words. Sensitivity to tone was assessed using minimal pairs differing only in one syllable (nonword task: e.g., to-kà-su compared to ca-fí-to) or only in tone (tone task: e.g., to-kà-su compared to to-ká-su). Proficiency in an East Asian heritage language was the strongest predictor of success on the tone task. Asians without tone language experience were no better than other ethnic groups. We conclude by considering implications for research on second language learning, especially as approached through artificial language learning.

Abstract

Pediatric myelodysplastic syndrome (MDS) is a heterogeneous disease covering a spectrum ranging from aplasia (RCC) to myeloproliferation (RAEB(t)). In adult-type MDS there is increasing evidence for abnormal function of the bone-marrow microenvironment. Here, we extensively studied the mesenchymal stromal cells (MSCs) derived from children with MDS. MSCs were expanded from the bone-marrow of 17 MDS patients (RCC: n = 10 and advanced MDS: n = 7) and pediatric controls (n = 10). No differences were observed with respect to phenotype, differentiation capacity, immunomodulatory capacity or hematopoietic support. mRNA expression analysis by Deep-SAGE revealed increased IL-6 expression in RCC- and RAEB(t)-MDS. RCC-MDS MSC expressed increased levels of DKK3, a protein associated with decreased apoptosis. RAEB(t)-MDS revealed increased CRLF1 and decreased DAPK1 expressions. This pattern has been associated with transformation in hematopoietic malignancies. Genes reported to be differentially expressed in adult MDS-MSC did not differ between MSC of pediatric MDS and controls. An altered mRNA expression profile, associated with cell survival and malignant transformation, of MSC derived from children with MDS strengthens the hypothesis that the micro-environment is of importance in this disease. Our data support the understanding that pediatric and adult MDS are two different diseases. Further evaluation of the pathways involved might reveal additional therapy targets.

Abstract

An aberrant interaction between hematopoietic stem cells and mesenchymal stromal cells has been linked to disease and shown to contribute to the pathophysiology of hematologic malignancies in murine models. Juvenile myelomonocytic leukemia is an aggressive malignant disease affecting young infants. Here we investigated the impact of juvenile myelomonocytic leukemia on mesenchymal stromal cells. Mesenchymal stromal cells were expanded from bone marrow samples of patients at diagnosis (n=9) and after hematopoietic stem cell transplantation (n=7; from 5 patients) and from healthy children (n=10). Cells were characterized by phenotyping, differentiation, gene expression analysis (of controls and samples obtained at diagnosis) and in vitro functional studies assessing immunomodulation and hematopoietic support. Mesenchymal stromal cells from patients did not differ from controls in differentiation capacity nor did they differ in their capacity to support in vitro hematopoiesis. Deep-SAGE sequencing revealed differential mRNA expression in patient-derived samples, including genes encoding proteins involved in immunomodulation and cell-cell interaction. Selected gene expression normalized during remission after successful hematopoietic stem cell transplantation. Whereas natural killer cell activation and peripheral blood mononuclear cell proliferation were not differentially affected, the suppressive effect on monocyte to dendritic cell differentiation was increased by mesenchymal stromal cells obtained at diagnosis, but not at time of remission. This study shows that active juvenile myelomonocytic leukemia affects the immune response-related gene expression and function of mesenchymal stromal cells. In contrast, the differential gene expression of hematopoiesis-related genes could not be supported by functional data. Decreased immune surveillance might contribute to the therapy resistance and progression in juvenile myelomonocytic leukemia.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

Lexicalized theories of syntax often assume that verb-structure regularities are mediated by lemmas, which abstract over variation in verb tense and aspect. German syntax seems to challenge this assumption, because verb position depends on tense and aspect. To examine how German speakers link these elements, a structural priming study was performed which varied syntactic structure, verb position (encoded by tense and aspect), and verb overlap. Abstract structural priming was found, both within and across verb position, but priming was larger when the verb position was the same between prime and target. Priming was boosted by verb overlap, but there was no interaction with verb position. The results can be explained by a lemma model where tense and aspect are linked to structural choices in German. Since the architecture of this lemma model is not consistent with results from English, a connectionist model was developed which could explain the cross-linguistic variation in the production system. Together, these findings support the view that language learning plays an important role in determining the nature of structural priming in different languages

Abstract

Studies on children’s use of intonation in reference are few in number but are diverse in terms of theoretical frameworks and intonational parameters. In the current review, I present a re-analysis of the referents in each study, using a three-dimension approach (i.e. referential givenness-newness, relational givenness-newness, contrast), discuss the use of intonation at two levels (phonetic, phonological), and compare findings from different studies within a single framework. The patterns stemming from these studies may be limited in generalisability but can serve as initial hypotheses for future work. Furthermore, I examine the role of input as available in infant direct speech in the acquisition of intonational encoding of referents. In addition, I discuss how future research can advance our knowledge.

Abstract

While detecting genetic variations underlying brain structures helps reveal mechanisms of neural disorders, high data dimensionality poses a major challenge for imaging genomic association studies. In this work, we present the application of a recently proposed approach, parallel independent component analysis with reference (pICA-R), to investigate genomic factors potentially regulating gray matter variation in a healthy population. This approach simultaneously assesses many variables for an aggregate effect and helps to elicit particular features in the data. We applied pICA-R to analyze gray matter density (GMD) images (274,131 voxels) in conjunction with single nucleotide polymorphism (SNP) data (666,019 markers) collected from 1,256 healthy individuals of the Brain Imaging Genetics (BIG) study. Guided by a genetic reference derived from the gene GNA14, pICA-R identified a significant SNP-GMD association (r = −0.16, P = 2.34 × 10−8), implying that subjects with specific genotypes have lower localized GMD. The identified components were then projected to an independent dataset from the Mind Clinical Imaging Consortium (MCIC) including 89 healthy individuals, and the obtained loadings again yielded a significant SNP-GMD association (r = −0.25, P = 0.02). The imaging component reflected GMD variations in frontal, precuneus, and cingulate regions. The SNP component was enriched in genes with neuronal functions, including synaptic plasticity, axon guidance, molecular signal transduction via PKA and CREB, highlighting the GRM1, PRKCH, GNA12, and CAMK2B genes. Collectively, our findings suggest that GNA12 and GNA14 play a key role in the genetic architecture underlying normal GMD variation in frontal and parietal regions

Abstract

This study examines acoustic and aerodynamic characteristics of consonants in standard Korean and in Cheju, an endangered Korean language. The focus is on the well-known three-way distinction among voiceless stops (i.e., lenis, fortis, aspirated) and the two-way distinction between the voiceless fricatives /s/ and /s*/. While such a typologically unusual contrast among voiceless stops has long drawn the attention of phoneticians and phonologists, there is no single work in the literature that discusses a body of data representing a relatively large number of speakers. This study reports a variety of acoustic and aerodynamic measures obtained from 12 Korean speakers (four speakers of Seoul Korean and eight speakers of Cheju). Results show that, in addition to findings similar to those reported by others, there are three crucial points worth noting. Firstly, lenis, fortis, and aspirated stops are systematically differentiated from each other by the voice quality of the following vowel. Secondly, these stops are also differentiated by aerodynamic mechanisms. The aspirated and fortis stops are similar in supralaryngeal articulation, but employ a different relation between intraoral pressure and flow. Thirdly, our study suggests that the fricative /s/ is better categorized as “lenis” rather than “aspirated”. The paper concludes with a discussion of the implications of Korean data for theories of the voicing contrast and their phonological representations.

Abstract

People spontaneously gesture when they speak (co-speech gestures) and when they solve problems silently (co-thought gestures). In this study, we first explored the relationship between these 2 types of gestures and found that individuals who produced co-thought gestures more frequently also produced co-speech gestures more frequently (Experiments 1 and 2). This suggests that the 2 types of gestures are generated from the same process. We then investigated whether both types of gestures can be generated from the representational use of the action generation process that also generates purposeful actions that have a direct physical impact on the world, such as manipulating an object or locomotion (the action generation hypothesis). To this end, we examined the effect of object affordances on the production of both types of gestures (Experiments 3 and 4). We found that individuals produced co-thought and co-speech gestures more often when the stimulus objects afforded action (objects with a smooth surface) than when they did not (objects with a spiky surface). These results support the action generation hypothesis for representational gestures. However, our findings are incompatible with the hypothesis that co-speech representational gestures are solely generated from the speech production process (the speech production hypothesis).

Abstract

Four cross-modal priming experiments and two forced-choice identification experiments investigated the use of suprasegmental cues to stress in the recognition of spoken English words, by native (English-speaking) and non- native (Dutch) listeners. Previous results had indicated that suprasegmental information was exploited in lexical access by Dutch but not by English listeners. For both listener groups, recognition of visually presented target words was faster, in comparison to a control condition, after stress-matching spoken primes, either monosyllabic (mus- from MUsic /muSEum) or bisyl labic (admi- from ADmiral/admiRAtion). For native listeners, the effect of stress-mismatching bisyllabic primes was not different from that of control primes, but mismatching monosyllabic primes produced partial facilitation. For non-native listeners, both bisyllabic and monosyllabic stress-mismatching primes produced partial facilitation. Native English listeners thus can exploit suprasegmental information in spoken-word recognition, but information from two syllables is used more effectively than information from one syllable. Dutch listeners are less proficient at using suprasegmental information in English than in their native language, but, as in their native language, use mono- and bisyllabic information to an equal extent. In forced-choice identification, Dutch listeners outperformed native listeners at correctly assigning a monosyllabic fragment (e.g., mus-) to one of two words differing in stress.

Abstract

Speech processing can often take place in adverse listening conditions that involve the mixing of speech and background noise. In this study, we investigated processing dependencies between background noise and indexical speech features, using a speeded classification paradigm (Garner, 1974; Exp. 1), and whether background noise is encoded and represented in memory for spoken words in a continuous recognition memory paradigm (Exp. 2). Whether or not the noise spectrally overlapped with the speech signal was also manipulated. The results of Experiment 1 indicated that background noise and indexical features of speech (gender, talker identity) cannot be completely segregated during processing, even when the two auditory streams are spectrally nonoverlapping. Perceptual interference was asymmetric, whereby irrelevant indexical feature variation in the speech signal slowed noise classification to a greater extent than irrelevant noise variation slowed speech classification. This asymmetry may stem from the fact that speech features have greater functional relevance to listeners, and are thus more difficult to selectively ignore than background noise. Experiment 2 revealed that a recognition cost for words embedded in different types of background noise on the first and second occurrences only emerged when the noise and the speech signal were spectrally overlapping. Together, these data suggest integral processing of speech and background noise, modulated by the level of processing and the spectral separation of the speech and noise.

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

Social tolerance is a core aspect of primate social relationships with implications for the evolution of cooperation, prosociality and social learning. We measured the social tolerance of bonobos in an experiment recently validated with chimpanzees to allow for a comparative assessment of group-level tolerance, and found that the bonobo group studied here exhibited lower social tolerance on average than chimpanzees. Furthermore, following the Relational Model [de Waal, 1996], we investigated whether bonobos responded to an increased potential for social conflict with tolerance, conflict avoidance or conflict escalation, and found that only behaviours indicative of conflict escalation differed across conditions. Taken together, these findings contribute to the current debate over the level of social tolerance of bonobos and lend support to the position that the social tolerance of bonobos may not be notably high compared with other primates.

Abstract

Studies of animal behavior consistently demonstrate that the social environment impacts cooperation, yet the effect of social dynamics has been largely excluded from studies of human cooperation. Here, we introduce a novel approach inspired by nonhuman primate research to address how social hierarchies impact human cooperation. Participants competed to earn hierarchy positions and then could cooperate with another individual in the hierarchy by investing in a common effort. Cooperation was achieved if the combined investments exceeded a threshold, and the higher ranked individual distributed the spoils unless control was contested by the partner. Compared to a condition lacking hierarchy, cooperation declined in the presence of a hierarchy due to a decrease in investment by lower ranked individuals. Furthermore, hierarchy was detrimental to cooperation regardless of whether it was earned or arbitrary. These findings mirror results from nonhuman primates and demonstrate that hierarchies are detrimental to cooperation. However, these results deviate from nonhuman primate findings by demonstrating that human behavior is responsive to changing hierarchical structures and suggests partnership dynamics that may improve cooperation. This work introduces a controlled way to investigate the social influences on human behavior, and demonstrates the evolutionary continuity of human behavior with other primate species.

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

Rhythmic categories such as morae in Japanese or stress units in English play a role in the perception of spoken
language. We examined this role in Japanese, since recent evidence suggests that morae may intervene as
structural units in word recognition. First, we found that traditional puns more often substituted part of a mora
than a whole mora. Second, when listeners reconstructed distorted words, e.g. panorama from panozema, responses
were faster and more accurate when only a phoneme was distorted (panozama, panorema) than when a
whole CV mora was distorted (panozema). Third, lexical decisions on the same nonwords were better predicted
by duration and number of phonemes from nonword uniqueness point to word end than by number of morae. Our
results indicate no role for morae in early spoken-word processing; we propose that rhythmic categories constrain
not initial lexical activation but subsequent processes of speech segmentation and selection among word candidates.

Abstract

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

Abstract

Recognizing spoken language involves automatic activation of multiple candidate words. The process of selection between candidates is made more efficient by inhibition of embedded words (like egg in beg) that leave a portion of the input stranded (here, b). Results from European languages suggest that this inhibition occurs when consonants are stranded but not when syllables are stranded. The reason why leftover syllables do not lead to inhibition could be that in principle they might themselves be words; in European languages, a syllable can be a word. In Sesotho (a Bantu language), however, a single syllable cannot be a word. We report that in Sesotho, word recognition is inhibited by stranded consonants, but stranded monosyllables produce no more difficulty than stranded bisyllables (which could be Sesotho words). This finding suggests that the viability constraint which inhibits spurious embedded word candidates is not sensitive to language-specific word structure, but is universal.

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

Languages differ in the constitution of their phonemic repertoire and in the relative distinctiveness of phonemes within the repertoire. In the present study, we asked whether such differences constrain spoken-word recognition, via two word reconstruction experiments, in which listeners turned non-words into real words by changing single sounds. The experiments were carried out in Dutch (which has a relatively balanced vowel-consonant ratio and many similar vowels) and in Spanish (which has many more consonants than vowels and high distinctiveness among the vowels). Both Dutch and Spanish listeners responded significantly faster and more accurately when required to change vowels as opposed to consonants; when allowed to change any phoneme, they more often altered vowels than consonants. Vowel information thus appears to constrain lexical selection less tightly (allow more potential candidates) than does consonant information, independent of language-specific phoneme repertoire and of relative distinctiveness of vowels.

Abstract

Spraak is continu, er zijn geen betrouwbare signalen waardoor de luisteraar weet waar het ene woord eindigt en het volgende begint. Voor volwassen luisteraars is het segmenteren van gesproken taal in afzonderlijke woorden dus niet onproblematisch, maar voor een kind dat nog geen woordenschat bezit, vormt de continuïteit van spraak een nog grotere uitdaging. Desalniettemin produceren de meeste kinderen hun eerste herkenbare woorden rond het begin van het tweede levensjaar. Aan deze vroege spraakproducties gaat een formidabele perceptuele prestatie vooraf. Tijdens het eerste levensjaar - met name gedurende de tweede helft - ontwikkelt de spraakperceptie zich van een algemeen fonetisch discriminatievermogen tot een selectieve gevoeligheid voor de fonologische contrasten die in de moedertaal voorkomen. Recent onderzoek heeft verder aangetoond dat kinderen, lang voordat ze ook maar een enkel woord kunnen zeggen, in staat zijn woorden die kenmerkend zijn voor hun moedertaal te onderscheiden van woorden die dat niet zijn. Bovendien kunnen ze woorden die eerst in isolatie werden aangeboden herkennen in een continue spraakcontext. Het dagelijkse taalaanbod aan een kind van deze leeftijd maakt het in zekere zin niet gemakkelijk, bijvoorbeeld doordat de meeste woorden niet in isolatie voorkomen. Toch wordt het kind ook wel houvast geboden, onder andere doordat het woordgebruik beperkt is.

Abstract

Becoming a native listener is the necessary precursor to becoming a native speaker. Babies in the first year of life undertake a remarkable amount of work; by the time they begin to speak, they have perceptually mastered the phonological repertoire and phoneme co-occurrence probabilities of the native language, and they can locate familiar word-forms in novel continuous-speech contexts. The skills acquired at this early stage form a necessary part of adult listening. However, the same native listening skills also underlie problems in listening to a late-acquired non-native language, accounting for why in such a case listening (an innate ability) is sometimes paradoxically more difficult than, for instance, reading (a learned ability).

Abstract

An acoustically invariant one-word segment occurred in two versions of one syntactic context. In one version, the preceding intonation contour indicated that a stress would fall at the point where this word occurred. In the other version, the preceding contour predicted reduced stress at that point. Reaction time to the initial phoneme of the word was faster in the former case, despite the fact that no acoustic correlates of stress were present. It is concluded that a part of the sentence comprehension process is the prediction of upcoming sentence accents.

Abstract

Orthographies encode phonological information only at the level of words (chiefly, the information encoded concerns phonetic segments; in some cases, tonal information or default stress may be encoded). Of primary interest to second language (L2) learners is whether orthography can assist in clarifying L2 phonological distinctions that are particularly difficult to perceive (e.g., where one native-language phonemic category captures two L2 categories). A review of spoken-word recognition evidence suggests that orthographic information can install knowledge of such a distinction in lexical representations but that this does not affect learners’ ability to perceive the phonemic distinction in speech. Words containing the difficult phonemes become even harder for L2 listeners to recognize, because perception maps less accurately to lexical content.

Abstract

The role of accent in reference resolution was investigated by monitoring eye fixations to lexical competitors (e.g., candy and candle ) as participants followed prerecorded instructions to move objects above or below fixed geometric shapes using a computer mouse. In Experiment 1, the first utterance instructed participants to move one object above or below a shape (e.g., “Put the candle/candy below the triangle”) and the second utterance contained an accented or deaccented definite noun phrase which referred to the same object or introduced a new entity (e.g., “Now put the CANDLE above the square” vs. “Now put the candle ABOVE THE SQUARE”). Fixations to the competitor (e.g., candy ) demonstrated a bias to interpret deaccented nouns as anaphoric and accented nouns as nonanaphoric. Experiment 2 used only accented nouns in the second instruction, varying whether the referent of this second instruction was the Theme of the first instruction (e.g., “Put the candle below the triangle”) or the Goal of the first instruction (e.g., “Put the necklace below the candle”). Participants preferred to interpret accented noun phrases as referring to a previously mentioned nonfocused entity (the Goal) rather than as introducing a new unmentioned entity.

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

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

Speech errors follow the phonotactics of the language being spoken. For example, in English, if [n] is mispronounced as [n] the [n] will always appear in a syllable coda. The authors created an analogue to this phenomenon by having participants recite lists of consonant-vowel-consonant syllables in 4 sessions on different days. In the first 2 experiments, some consonants were always onsets, some were always codas, and some could be both. In a third experiment, the set of possible onsets and codas depended on vowel identity. In all 3 studies, the production errors that occurred respected the "phonotactics" of the experiment. The results illustrate the implicit learning of the sequential constraints present in the stimuli and show that the language production system adapts to recent experience.

Abstract

European cooperative effort seeks best practices architecture and procedures for international sites

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

Current research on spoken language does not provide a consistent picture as to whether prosody, the melody and rhythm of speech, conveys a specific meaning. Perception studies show that English listeners assign meaning to prosodic patterns, and, for instance, associate some accents with contrast, whereas Dutch listeners behave more controversially. In two ERP studies we tested how Dutch listeners process words carrying two types of accents, which either provided new information (new information accents) or corrected information (corrective accents), both in single sentences (experiment 1) and after corrective and new information questions (experiment 2). In both experiments corrective accents elicited a sustained positivity as compared to new information accents, which started earlier in context than in single sentences. The positivity was not modulated by the nature of the preceding question, suggesting that the underlying neural mechanism likely reflects the construction of an interpretation to the accented word, either by identifying an alternative in context or by inferring it when no context is present. Our experimental results provide strong evidence for inferential processes related to prosodic contours in Dutch

Abstract

The article compares the integration of topic-related additive words at different stages of untutored L2 acquisition. Data stem from an ‘‘additive-elicitation task’’ that was designed in order to capture topic-related additive words in a context that is at the same time controlled for the underlying information structure and nondeviant from other kinds of narrative discourse. We relate the distinction between stressed and nonstressed forms of the German scope particles and adverbials auch ‘also’, noch ‘another’, wieder ‘again’, and immer noch ‘still’ to a uniform, information-structure-based principle: the stressed variants have scope over the topic information of the relevant utterances. It is then the common function of these additive words to express the additive link between the topic of the present utterance and some previous topic for which the same state of affairs is claimed to hold. This phenomenon has often been referred to as ‘‘contrastive topic,’’ but contrary to what this term suggests, these topic elements are by no means deviant from the default in coherent discourse. In the underlying information structure, the validity of some given state of affairs for the present topic must be under discussion. Topic-related additive words then express that the state of affairs indeed applies to this topic, their function therefore coming close to the function of assertion marking. While this functional correspondence goes along with the formal organization of the basic stages of untutored second-language acquisition, its expression brings linguistic constraints into conflict when the acquisition of finiteness pushes learners to reorganize their utterances according to target-language syntax.

Abstract

Based on their longitudinal analysis of the acquisition of Dutch, English, French, and German, Klein and Perdue (1997) described a “basic learner variety” as valid cross-linguistically and comprising a limited number of shared syntactic patterns interacting with two types of constraints: (a) semantic—the NP whose referent has highest control comes first, and (b) pragmatic—the focus expression is in final position. These authors hypothesized that “the topic-focus structure also plays an important role in some other respects. . . . Thus, negation and (other) scope particles occur at the topic-focus boundary” (p. 318). This poses the problem of the interaction between the core organizational principles of the basic variety and optional items such as negative particles and scope particles, which semantically affect the whole or part of the utterance in which they occur. In this article, we test the validity of these authors' hypothesis for the acquisition of the additive scope particle also (and its translation equivalents). Our analysis is based on the European Science Foundation (ESF) data originally used to define the basic variety, but we also included some more advanced learner data from the same database. In doing so, we refer to the analyses of Dimroth and Klein (1996), which concern the interaction between scope particles and the part of the utterance they affect, and we make a distinction between maximal scope—that which is potentially affected by the particle—and the actual scope of a particle in relation to an utterance in a given discourse context

Abstract

The notion that the form of a word bears an arbitrary relation to its meaning accounts only partly for the attested form to meaning correspondences in the world’s languages. Recent research suggests a more textured view of vocabulary structure, in which arbitrariness is complemented by iconicity (aspects of form resemble aspects of meaning) and systematicity (statistical regularities in forms predict function). Experimental evidence suggests these form to meaning correspondences serve different functions in language processing, development and communication: systematicity facilities category learning by means of phonological cues, iconicity facilitates word learning and communication by means of perceptuomotor analogies, and arbitrariness facilitates meaning individuation through distinctive forms. Processes of cultural evolution help explain how these competing motivations shape vocabulary structure.

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

Informal paraphrases by native speaker consultants are crucial tools in linguistic fieldwork. When recorded, archived, and analysed, they offer rich data that can be mined for many purposes, from lexicography to semantic typology and from ethnography to the investigation of gesture and speech. This paper describes a procedure for the collection and analysis of folk definitions that are native (in the language under study rather than the language of analysis), informal (spoken rather than written), and multi-modal (preserving the integrity of gesture-speech composite utterances). The value of folk definitions is demonstrated using the case of ideophones, words that are notoriously hard to study using traditional elicitation methods. Three explanatory strategies used in a set of folk definitions of ideophones are examined: the offering of everyday contexts of use, the use of depictive gestures, and the use of sense relations as semantic anchoring points. Folk definitions help elucidate word meanings that are hard to capture, bring to light cultural background knowledge that often remains implicit, and take seriously the crucial involvement of native speaker consultants in linguistic fieldwork. They provide useful data for language documentation and are an essential element of any toolkit for linguistic and ethnographic field research.

Abstract

Repetition is one of the most basic operations on talk, often discussed for its iconic meanings. Ideophones are marked words that depict sensory imagery, often identified by their reduplicated forms. Yet not all reduplication is iconic, and not all ideophones are reduplicated. This paper discusses the semantics and pragmatics of repeated talk (repetition as well as reduplication), with special focus on the intersection of reduplicative processes and ideophonic words. Various formal features of ideophones suggest that it is fruitful to distinguish two modes of representation in language —description and depiction— along with cues like prosodic foregrounding that can steer listeners’ interpretation from one to the other. What is special about reduplication is that it can naturally partake in both of these modes of representation, which is why it is so common in ideophones as well as in other areas of grammar. Using evidence from Siwu, Korean, Semai and a range of other languages, this paper shows how the study of ideophones sheds light on the interpretation of repeated talk and can lead to a more holistic understanding of reduplicative phenomena in language.

Abstract

This special issue reports on a cross-linguistic study of other-initiated repair, a domain at the crossroads of language, mind, and social life. Other-initiated repair is part of a system of practices that people use to deal with problems of speaking, hearing and understanding. The contributions in this special issue describe the linguistic resources and interactional practices associated with other-initiated repair in ten different languages. Here we provide an overview of the research methods and the conceptual framework. The empirical base for the project consists of corpora of naturally occurring conversations, collected in fieldsites around the world. Methodologically, we combine qualitative analysis with a comparative-typological perspective, and we formulate principles for the cross-linguistic comparison of conversational structures. A key move, of broad relevance to pragmatic typology, is the recognition that formats for repair initiation form paradigm-like systems that are ultimately language-specific, and that comparison is best done at the level of the constitutive properties of these formats. These properties can be functional (concerning aspects of linguistic formatting) as well as sequential (concerning aspects of the interactional environment). We show how functional and sequential aspects of conversational structure can capture patterns of commonality and diversity in conversational structures within and across languages

Abstract

This article describes the interactional patterns and linguistic structures associated with other-initiated repair in Siwu, a Kwa language spoken in eastern Ghana. Other-initiated repair is the set of techniques used by people to deal with problems in speaking, hearing and understanding. Formats for repair initiation in Siwu exploit language-specific resources like question words and noun class morphology. At the same time, the basic structure of the system bears a strong similarity other-initiated repair in other languages. Practices described for Siwu thus are potentially of broader relevance to the study of other-initiated repair. This article documents how different prosodic realisations of repair initiators may index social actions and features of the speech event; how two distinct roles of repetition in repair initiators are kept apart by features of turn design; and what kinds of items can be treated as ‘dispensable’ in resayings. By charting how other-initiated repair uses local linguistic resources and yet is shaped by interactional needs that transcend particular languages, this study contributes to the growing field of pragmatic typology: the study of systems of language use and the principles that shape them

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

There would be little adaptive value in a complex communication system like human language if there were no ways to detect and correct problems. A systematic comparison of conversation in a broad sample of the world’s languages reveals a universal system for the real-time resolution of frequent breakdowns in communication. In a sample of 12 languages of 8 language families of varied typological profiles we find a system of ‘other-initiated repair’, where the recipient of an unclear message can signal trouble and the sender can repair the original message. We find that this system is frequently used (on average about once per 1.4 minutes in any language), and that it has detailed common properties, contrary to assumptions of radical cultural variation. Unrelated languages share the same three functionally distinct types of repair initiator for signalling problems and use them in the same kinds of contexts. People prefer to choose the type that is the most specific possible, a principle that minimizes cost both for the sender being asked to fix the problem and for the dyad as a social unit. Disruption to the conversation is kept to a minimum, with the two-utterance repair sequence being on average no longer that the single utterance which is being fixed. The findings, controlled for historical relationships, situation types and other dependencies, reveal the fundamentally cooperative nature of human communication and offer support for the pragmatic universals hypothesis: while languages may vary in the organization of grammar and meaning, key systems of language use may be largely similar across cultural groups. They also provide a fresh perspective on controversies about the core properties of language, by revealing a common infrastructure for social interaction which may be the universal bedrock upon which linguistic diversity rests.

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

The dominantly inherited cerebellar ataxias are a heterogeneous group of neurodegenerative disorders caused by Purkinje cell loss in the cerebellum. Recently, we identified loss-of-function mutations in the KCND3 gene as the cause of spinocerebellar ataxia type 19/22 (SCA19/22), revealing a previously unknown role for the voltage-gated potassium channel, Kv4.3, in Purkinje cell survival. However, how mutant Kv4.3 affects wild-type Kv4.3 channel functioning remains unknown. We provide evidence that SCA19/22-mutant Kv4.3 exerts a dominant negative effect on the trafficking and surface expression of wild-type Kv4.3 in the absence of its regulatory subunit, KChIP2. Notably, this dominant negative effect can be rescued by the presence of KChIP2. We also found that all SCA19/22-mutant subunits either suppress wild-type Kv4.3 current amplitude or alter channel gating in a dominant manner. Our findings suggest that altered Kv4.3 channel localization and/or functioning resulting from SCA19/22 mutations may lead to Purkinje cell loss, neurodegeneration and ataxia.

Abstract

This paper examines the Papuan languages of Island Melanesia, with a view to considering their typological similarities and differences. The East Papuan languages are thought to be the descendants of the languages spoken by the original inhabitants of Island Melanesia, who arrived in the area up to 50,000 years ago. The Oceanic Austronesian languages are thought to have come into the area with the Lapita peoples 3,500 years ago. With this historical backdrop in view, our paper seeks to investigate the linguistic relationships between the scattered Papuan languages of Island Melanesia. To do this, we survey various structural features, including syntactic patterns such as constituent order in clauses and noun phrases and other features of clause structure, paradigmatic structures of pronouns, and the structure of verbal morphology. In particular, we seek to discern similarities between the languages that might call for closer investigation, with a view to establishing genetic relatedness between some or all of the languages. In addition, in examining structural relationships between languages, we aim to discover whether it is possible to distinguish between original Papuan elements and diffused Austronesian elements of these languages. As this is a vast task, our paper aims merely to lay the groundwork for investigation into these and related questions.

Abstract

This paper examines the effects of language standardization and orthography design on the Chukchi linguistic ecology. The process of standardisation has not taken into consideration the gender-based sociolects of colloquial Chukchi and is based on a grammaticaldescriptionwhich does not reflectactual Chukchi use; as a result standard Chukchi has not gained a place in the Chukchi language ecology. The Cyrillic orthography developed for Chukchi is also problematic as it is based on features of Russian phonology, rather than on Chukchi itself: this has meant that a knowledge of written Chukchi is dependent on a knowledge of the principles of Russian orthography. The aspects of language planning have had a large impact on the pre-existing Chukchi language ecology which has contributed to the obsolescence of the colloquial language.

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

Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. FOXP2 is the first gene relevant to the human ability to develop language. A point mutation in FOXP2 co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of FOXP2 seem to be required for acquisition of normal spoken language. We sequenced the complementary DNAs that encode the FOXP2 protein in the chimpanzee, gorilla, orang-utan, rhesus macaque and mouse, and compared them with the human cDNA. We also investigated intraspecific variation of the human FOXP2 gene. Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.

Abstract

Investigation of the emotions entails reference to words and expressions conventionally used for the description of emotion experience. Important methodological issues arise for emotion researchers, and the issues are of similarly central concern in linguistic semantics more generally. I argue that superficial and/or inconsistent description of linguistic meaning can have seriously misleading results. This paper is firstly a critique of standards in emotion research for its tendency to underrate and ill-understand linguistic semantics. It is secondly a critique of standards in some approaches to linguistic semantics itself. Two major problems occur. The first is failure to distinguish between conceptually distinct meanings of single words, neglecting the well-established fact that a single phonological string can signify more than one conceptual category (i.e., that words can be polysemous). The second error involves failure to distinguish between two kinds of secondary uses of words: (1) those which are truly active “online” extensions, and (2) those which are conventionalised secondary meanings and not active (qua “extensions”) at all. These semantic considerations are crucial to conclusions one may draw about cognition and conceptualisation based on linguistic evidence.

Abstract

This article argues that it is not possible to establish distinctions between 'Lao', 'Thai', and 'Isan' as seperate languages or dialects by appealing to objective criteria. 'Lao', 'Thai', and 'Isan' are conceived linguistics varieties, and the ground-level reality reveals a great deal of variation, much of it not coinciding with the geographical boundaries of the 'Laos', 'Isan', and 'non-Isan Thailand' areas. Those who promote 'Lao', 'Thai', and/or 'Isan' as distinct linguistic varieties have subjective (e.g. political and/or sentimental) reasons for doing so. Objective linguistic criteria are not sufficient