Publications

Abstract

A new sign language has been created by deaf Nicaraguans over the past 25 years, providing an opportunity to observe the inception of universal hallmarks of language. We found that in their initial creation of the language, children analyzed complex events into basic elements and sequenced these elements into hierarchically structured expressions according to principles not observed in gestures accompanying speech in the surrounding language. Successive cohorts of learners extended this procedure, transforming Nicaraguan signing from its early gestural form into a linguistic system. We propose that this early segmentation and recombination reflect mechanisms with which children learn, and thereby perpetuate, language. Thus, children naturally possess learning abilities capable of giving language its fundamental structure.

Abstract

This study is a prolegomenon to a formal theory of the natural growth of conceptual and lexical fields. Negation, in the various forms in which it occurs in language, is found to be a powerful indicator. Other than in standard logic, natural language negation selects its complement within universes of discourse that are, for practical and functional reasons, restricted in various ways and to different degrees. It is hypothesized that a system of cognitive principles drives recursive processes of universe restriction, which in turn affects logical relations within the restricted universes. This approach provides a new perspective in which to view the well-known clashes between standard logic and natural logical intuitions. Lexicalization in language, especially the morphological incorporation of negation, is limited to highly restricted universes, which explains, for example, why a dog can be said not to be a Catholic, but also not to be a non-Catholic. Cognition is taken to restrict the universe of discourse to contrary pairs, splitting up one or both of the contraries into further subuniverses as a result of further cognitive activity. It is shown how a logically sound square of opposition , expanded to a hexagon (Jacoby 1950, 1960, Sesmat 1951, Blanché 1952, 1953, 1966), is generated by a hierarchy of universe restrictions, defining the notion ‘natural’ for logical systems. The logical hexagon contains two additional vertices, one for ‘some but not all’ (the Y-type) and one for ‘either all or none’ (the U-type), and incorporates both the classic square and the Hamiltonian triangle of contraries . Some is thus considered semantically ambiguous, representing two distinct quantifiers. The pragmaticist claim that the language system contains only the standard logical ‘some perhaps all’ and that the ‘some but not all’ meaning is pragmatically derived from the use of the system is rejected. Four principles are proposed according to which negation selects a complement from the subuniverses at hand. On the basis of these principles and of the logico-cognitive system proposed, the well-known nonlexicalization not only of *nall and *nand but also of many other nonlogical cases found throughout the lexicons of languages is analyzed and explained

Abstract

Since Aristotle and the Stoa, there has been a clash, worsened by modern predicate logic, between logically defined operator meanings and natural intuitions. Pragmatics has tried to neutralize the clash by an appeal to the Gricean conversational maxims. The present study argues that the pragmatic attempt has been unsuccessful. The “softness” of the Gricean explanation fails to do justice to the robustness of the intuitions concerned, leaving the relation between the principles evoked and the observed facts opaque. Moreover, there are cases where the Gricean maxims fail to apply. A more adequate solution consists in the devising of a sound natural logic, part of the innate cognitive equipment of mankind. This account has proved successful in conjunction with a postulated cognitive mechanism in virtue of which the universe of discourse (Un) is stepwise and recursively restricted, so that the negation selects different complements according to the degree of restrictedness of Un. This mechanism explains not only the discrepancies between natural logical intuitions and known logical systems; it also accounts for certain systematic lexicalization gaps in the languages of the world. Finally, it is shown how stepwise restriction of Un produces the ontogenesis of natural predicate logic, while at the same time resolving the intuitive clashes with established logical systems that the Gricean maxims sought to explain

Abstract

The present study paints the intellectual environment in which Ferdinand de Saussure developed his ideas about language and linguistics during the fin de siècle. It sketches his dissatisfaction with that environment to the extent that it touched on linguistics, and shows the new course he was trying to steer on the basis of ideas that seemed to open new and exciting perspectives, even though they were still vaguely defined. As Saussure himself was extremely reticent about his sources and intellectual pedigree, his stance in the lively European cultural context in which he lived can only be established through textual critique and conjecture. On this basis, it is concluded that Saussure, though relatively uninformed about its historical roots, essentially aimed at integrating the rationalist tradition current in the sciences in his day into a new, ‘scientific’ general theory of language. In this, he was heavily indebted to a few predecessors, such as the French philosopher-psychologist Victor Egger, and particularly to the French psychologist, historian and philosopher Hippolyte Taine, who was a major cultural influence in nineteenth-century France, though now largely forgotten. The present study thus supports Hans Aarsleff's analysis, where, for the first time, Taine's influence is emphasised, and rejects John Joseph's contention that Taine had no influence and that, instead, Saussure was influenced mainly by the romanticist Adolphe Pictet. Saussure abhorred Pictet's method of etymologising, which predated the Young Grammarian school, central to Saussure's linguistic education. The issue has implications for the positioning of Saussure in the history of linguistics. Is he part of the non-analytical, romanticist and experience-based European strand of thought that is found in art and postmodernist philosophy and is sometimes called structuralism, or is he a representative of the short-lived European branch of specifically linguistic structuralism, which was rationalist in outlook, more science-oriented and more formalist, but lost out to American structuralism? The latter seems to be the case, though phenomenology, postmodernism and art have lately claimed Saussure as an icon

Abstract

Notch signaling in the nervous system is often regarded as a developmental pathway. However, recent studies have suggested that Notch is associated with neuronal discharges. Here, focusing on temporal lobe epilepsy, we found that Notch signaling was activated in the kainic acid (KA)-induced epilepsy model and in human epileptogenic tissues. Using an acute model of seizures, we showed that DAPT, an inhibitor of Notch, inhibited ictal activity. In contrast, pretreatment with exogenous Jagged1 to elevate Notch signaling before KA application had proconvulsant effects. In vivo, we demonstrated that the impacts of activated Notch signaling on seizures can in part be attributed to the regulatory role of Notch signaling on excitatory synaptic activity in CA1 pyramidal neurons. In vitro, we found that DAPT treatment impaired synaptic vesicle endocytosis in cultured hippocampal neurons. Taken together, our findings suggest a correlation between aberrant Notch signaling and epileptic seizures. Notch signaling is up-regulated in response to seizure activity, and its activation further promotes neuronal excitation of CA1 pyramidal neurons in acute seizures.

Abstract

We investigated the neural basis of inhibitory control during lexical selection. Participants overtly named pictures while response times (RTs) and event-related brain potentials (ERPs) were recorded. The difficulty of lexical selection was manipulated by using object and action pictures with high name agreement (few response candidates) versus low name agreement (many response candidates). To assess the involvement of inhibition, we conducted delta plot analyses of naming RTs and examined the N2 component of the ERP. We found longer mean naming RTs and a larger N2 amplitude in the low relative to the high name agreement condition. For action naming we found a negative correlation between the slopes of the slowest delta segment and the difference in N2 amplitude between the low and high name agreement conditions. The converging behavioral and electrophysiological evidence suggests that selective inhibition is engaged to reduce competition during lexical selection in picture naming.

Abstract

The present study provides Dutch norms for age of acquisition, familiarity, imageability, image agreement, visual complexity, word frequency, and word length (in syllables) for 124 line drawings of actions. Ratings were obtained from 117 Dutch participants. Word frequency was determined on the basis of the SUBTLEX-NL corpus (Keuleers, Brysbaert, & New, Behavior Research Methods, 42, 643–650, 2010). For 104 of the pictures, naming latencies and name agreement were determined in a separate naming experiment with 74 native speakers of Dutch. The Dutch norms closely corresponded to the norms for British English. Multiple regression analysis showed that age of acquisition, imageability, image agreement, visual complexity, and name agreement were significant predictors of naming latencies, whereas word frequency and word length were not. Combined with the results of a principal-component analysis, these findings suggest that variables influencing the processes of conceptual preparation and lexical selection affect latencies more strongly than do variables influencing word-form encoding.

Abstract

The present study reports naming latencies and norms for 327 photos of objects in Dutch. We provide norms for eight psycholinguistic variables: age of acquisition, familiarity, imageability, image agreement, objective and subjective visual complexity, word frequency, word length in syllables and in letters, and name agreement. Furthermore, multiple regression analyses reveal that significant predictors of photo naming latencies are name agreement, word frequency, imageability, and image agreement. Naming latencies, norms and stimuli are provided as Supplemental Materials.

Abstract

This study examined the contributions of verbal ability and executive control to verbal fluency performance in older adults (n=82). Verbal fluency was assessed in letter and category fluency tasks, and performance on these tasks was related to indicators of vocabulary size, lexical access speed, updating, and inhibition ability. In regression analyses the number of words produced in both fluency tasks was predicted by updating ability, and the speed of the first response was predicted by vocabulary size and, for category fluency only, lexical access speed. These results highlight the hybrid character of both fluency tasks, which may limit their usefulness for research and clinical purposes.

Abstract

Models of speech production disagree on whether or not homonyms have a shared word-form representation. To investigate this issue, a picture-naming experiment was carried out using Dutch homonyms of which both meanings could be presented as a picture. Naming latencies for the low-frequency meanings of homonyms were slower than for those of the high-frequency meanings. However, no frequency effect was found for control words, which matched the frequency of the homonyms meanings. Subsequent control experiments indicated that the difference in naming latencies for the homonyms could be attributed to processes earlier than wordform retrieval. Specifically, it appears that low name agreement slowed down the naming of the low-frequency homonym pictures.

Abstract

Pitch is often described metaphorically: for example, Farsi and Turkish speakers use a ‘thickness’ metaphor (low sounds are ‘thick’ and high sounds are ‘thin’), while German and English speakers use a height metaphor (‘low’, ‘high’). This study examines how child and adult speakers of Farsi, Turkish, and German map pitch and thickness using a cross-modal association task. All groups, except for German children, performed significantly better than chance. German-speaking adults’ success suggests the pitch-to-thickness association can be learned by experience. But the fact that German children were at chance indicates that this learning takes time. Intriguingly, Farsi and Turkish children's performance suggests that learning cross-modal associations can be boosted through experience with consistent metaphorical mappings in the input language

Abstract

The colour-word Stroop task and the picture-word interference task (PWI) have been used extensively to study the functional processes underlying spoken word production. One of the consistent behavioural effects in both tasks is the Stroop-like effect: The reaction time (RT) is longer on incongruent trials than on congruent trials. The effect in the Stroop task is usually linked to word planning, whereas the effect in the PWI task is associated with either word planning or perceptual encoding. To adjudicate between the word planning and perceptual encoding accounts of the effect in PWI, we conducted an EEG experiment consisting of three tasks: a standard colour-word Stroop task (three colours), a standard PWI task (39 pictures), and a Stroop-like version of the PWI task (three pictures). Participants overtly named the colours and pictures while their EEG was recorded. A Stroop-like effect in RTs was observed in all three tasks. ERPs at centro-parietal sensors started to deflect negatively for incongruent relative to congruent stimuli around 350 ms after stimulus onset for the Stroop, Stroop-like PWI, and the Standard PWI tasks: an N400 effect. No early differences were found in the PWI tasks. The onset of the Stroop-like effect at about 350 ms in all three tasks links the effect to word planning rather than perceptual encoding, which has been estimated in the literature to be finished around 200–250 ms after stimulus onset. We conclude that the Stroop-like effect arises during word planning in both Stroop and PWI.

Abstract

Contrary to linear difference equations, there is no general theory of difference equations of the form G(P(x−τ1),…,P(x−τs))+G0(x)=0, with τi∈K, G(x1,…,xs)∈K[x1,…,xs] of total degree D⩾2 and G0(x)∈K[x], where K is a field of characteristic zero. This article is concerned with the following problem: given τi, G and G0, find an upper bound on the degree d of a polynomial solution P(x), if it exists. In the presented approach the problem is reduced to constructing a univariate polynomial for which d is a root. The authors formulate a sufficient condition under which such a polynomial exists. Using this condition, they give an effective bound on d, for instance, for all difference equations of the form G(P(x−a),P(x−a−1),P(x−a−2))+G0(x)=0 with quadratic G, and all difference equations of the form G(P(x),P(x−τ))+G0(x)=0 with G having an arbitrary degree.

Abstract

Aboriginal languages threatened by speakers poor economic and social conditions; some may survive through support for community development, language maintenance, bilingual education and training of Aboriginal teachers and linguists, and nonAboriginal teachers of Aboriginal and Islander students.

Abstract

Previous studies have provided evidence that updating, inhibiting, and shifting abilities underlying executive control determine response time (RT) in language production. However, little is known about their electrophysiological basis and dynamics. In the present electroencephalography study, we assessed noun-phrase production using picture description and a picture-word interference paradigm. We measured picture description RTs to assess length, distractor, and switch effects, which have been related to the updating, inhibiting, and shifting abilities. In addition, we measured event-related brain potentials (ERPs). Previous research has suggested that inhibiting and shifting are associated with anterior and posterior N200 subcomponents, respectively, and updating with the P300. We obtained length, distractor, and switch effects in the RTs, and an interaction between length and switch. There was a widely distributed switch effect in the N200, an interaction of length and midline site in the N200, and a length effect in the P300, whereas distractor did not yield any ERP modulation. Moreover, length and switch interacted in the posterior N200. We argue that these results provide electrophysiological evidence that inhibiting and shifting of task set occur before updating in phrase planning.

Abstract

The present study examined how the updating, inhibiting, and shifting abilities underlying executive control influence spoken noun-phrase production. Previous studies provided evidence that updating and inhibiting, but not shifting, influence picture-naming response time (RT). However, little is known about the role of executive control in more complex forms of language production like generating phrases. We assessed noun-phrase production using picture description and a picture–word interference procedure. We measured picture description RT to assess length, distractor, and switch effects, which were assumed to reflect, respectively, the updating, inhibiting, and shifting abilities of adult participants. Moreover, for each participant we obtained scores on executive control tasks that measured verbal and nonverbal updating, nonverbal inhibiting, and nonverbal shifting. We found that both verbal and nonverbal updating scores correlated with the overall mean picture description RTs. Furthermore, the length effect in the RTs correlated with verbal but not nonverbal updating scores, while the distractor effect correlated with inhibiting scores. We did not find a correlation between the switch effect in the mean RTs and the shifting scores. However, the shifting scores correlated with the switch effect in the normal part of the underlying RT distribution. These results suggest that updating, inhibiting, and shifting each influence the speed of phrase production, thereby demonstrating a contribution of all three executive control abilities to language production.

Abstract

We investigated global integration (wrap-up) processes at the boundaries of musical phrases by comparing the effects of well and non-well formed phrases on event-related potentials time-locked to two boundary points: the onset and the offset of the boundary pause. The Closure Positive Shift, which is elicited at the boundary offset, was not modulated by the quality of phrase structure (well vs. non-well formed). In contrast, the boundary onset potentials showed different patterns for well and non-well formed phrases. Our results contribute to specify the functional meaning of the Closure Positive Shift in music, shed light on the large-scale structural integration of musical input, and raise new hypotheses concerning shared resources between music and language.

Abstract

During oral reading, the eyes tend to be ahead of the voice (eye-voice span, EVS). It has been hypothesized that the extent to which this happens depends on the automaticity of reading processes, namely on the speed of print-to-sound conversion. We tested whether EVS is affected by another automaticity component – immunity from interference. To that end, we manipulated word familiarity (high-frequency, lowfrequency, and pseudowords, PW) and word length as proxies of immunity from interference, and we used linear mixed effects models to measure the effects of both variables on the time interval at which readers do parallel processing by gazing at word N C 1 while not having articulated word N yet (offset EVS). Parallel processing was enhanced by automaticity, as shown by familiarity length interactions on offset EVS, and it was impeded by lack of automaticity, as shown by the transformation of offset EVS into voice-eye span (voice ahead of the offset of the eyes) in PWs. The relation between parallel processing and automaticity was strengthened by the fact that offset EVS predicted reading velocity. Our findings contribute to understand how the offset EVS, an index that is obtained in oral reading, may tap into different components of automaticity that underlie reading ability, oral or silent. In addition, we compared the duration of the offset EVS with the average reference duration of stages in word production, and we saw that the offset EVS may accommodate for more than the articulatory programming stage of word N.

Abstract

Two different forms of parafoveal dysfunction have been hypothesized as core deficits of dyslexic individuals: reduced parafoveal preview benefits (“too little parafovea”) and increased costs of parafoveal load (“too much parafovea”). We tested both hypotheses in a single eye-tracking experiment using a modified serial rapid automatized naming (RAN) task. Comparisons between dyslexic and non-dyslexic adults showed reduced parafoveal preview benefits in dyslexics, without increased costs of parafoveal load. Reduced parafoveal preview benefits were observed in a naming task, but not in a silent letter-finding task, indicating that the parafoveal dysfunction may be consequent to the overload with extracting phonological information from orthographic input. Our results suggest that dyslexics’ parafoveal dysfunction is not based on strict visuo-attentional factors, but nevertheless they stress the importance of extra-phonological processing. Furthermore, evidence of reduced parafoveal preview benefits in dyslexia may help understand why serial RAN is an important reading predictor in adulthood

Abstract

Neuroscientific and musicological approaches to music cognition indicate that listeners familiarized in the Western tonal tradition expect a musical phrase boundary at predictable time intervals. However, phrase boundary prediction processes in music remain untested. We analyzed event-related potentials (ERPs) and event-related induced power changes at the onset and offset of a boundary pause. We made comparisons with modified melodies, where the pause was omitted and filled by tones. The offset of the pause elicited a closure positive shift (CPS), indexing phrase boundary detection. The onset of the filling tones elicited significant increases in theta and beta powers. In addition, the P2 component was larger when the filling tones started than when they ended. The responses to boundary omission suggest that listeners expected to hear a boundary pause. Therefore, boundary prediction seems to coexist with boundary detection in music segmentation.

Abstract

An ability to decode semantic information from fMRI spatial patterns has been demonstrated in previous studies mostly for 1 specific input modality. In this study, we aimed to decode semantic category independent of the modality in which an object was presented. Using a searchlight method, we were able to predict the stimulus category from the data while participants performed a semantic categorization task with 4 stimulus modalities (spoken and written names, photographs, and natural sounds). Significant classification performance was achieved in all 4 modalities. Modality-independent decoding was implemented by training and testing the searchlight method across modalities. This allowed the localization of those brain regions, which correctly discriminated between the categories, independent of stimulus modality. The analysis revealed large clusters of voxels in the left inferior temporal cortex and in frontal regions. These voxels also allowed category discrimination in a free recall session where subjects recalled the objects in the absence of external stimuli. The results show that semantic information can be decoded from the fMRI signal independently of the input modality and have clear implications for understanding the functional mechanisms of semantic memory.

Abstract

This study examines what stage 9‐12‐year‐old Dutch‐speaking children have reached in the development of their L2 lexicon, focusing on its phonological specificity. Two experiments were carried out with a group of Dutch‐speaking children and adults learning English. In a first task, listeners were asked to judge Dutch words which were presented with either the target Dutch vowel or with an English vowel synthetically inserted. The second experiment was a mirror of the first, i.e. with English words and English or Dutch vowels inserted. It was examined to what extent the listeners accepted substitutions of Dutch vowels by English ones, and vice versa. The results of the experiments suggest that the children have not reached the same degree of phonological specificity of L2 words as the adults. Children not only experience a strong influence of their native vowel categories when listening to L2 words, they also apply less strict criteria.

Abstract

This study investigated the phonological representations of vowels in children's native and non-native lexicons. Two experiments were mispronunciation tasks (i.e., a vowel in words was substituted by another vowel from the same language). These were carried out by Dutch-speaking 9–12-year-old children and Dutch-speaking adults, in their native (Experiment 1, Dutch) and non-native (Experiment 2, English) language. A third experiment tested vowel discrimination. In Dutch, both children and adults could accurately detect mispronunciations. In English, adults, and especially children, detected substitutions of native vowels (i.e., vowels that are present in the Dutch inventory) by non-native vowels more easily than changes in the opposite direction. Experiment 3 revealed that children could accurately discriminate most of the vowels. The results indicate that children's L1 categories strongly influenced their perception of English words. However, the data also reveal a hint of the development of L2 phoneme categories.

Abstract

Aim Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. Method Genome-wide single nucleotide polymorphism genotyping was performed in three sample sets: a clinical cohort of individuals with speech and language deficits (87 probands: 61 males, 26 females; age range 4 to 23 years), a replication cohort of individuals with SLI, from both clinical and epidemiological samples (209 probands: 139 males, 70 females; age range 4 to 17 years), and a set of individuals with dyslexia (314 probands: 224 males, 90 females; age range 7 to 18 years). Results In the clinical language-impaired cohort, three abnormal karyotypic results were identified in probands (proband yield 3.4%). In the SLI replication cohort, six abnormalities were identified providing a consistent proband yield (2.9%). In the sample of individuals with dyslexia, two sex chromosome aneuploidies were found giving a lower proband yield of 0.6%. In total, two XYY, four XXY (Klinefelter syndrome), three XXX, one XO (Turner syndrome), and one unresolved karyotype were identified. Interpretation The frequency of sex chromosome aneuploidies within each of the three cohorts was increased over the expected population frequency (approximately 0.25%) suggesting that genetic testing may prove worthwhile for individuals with language and literacy problems and normal non-verbal IQ. Early detection of these aneuploidies can provide information and direct the appropriate management for individuals.

Abstract

Crosslinguistic studies of expressions of motion events have found that Talmy's binary typology of verb-framed and satellite-framed languages is reflected in language use. In particular, Manner of motion is relatively more elaborated in satellite-framed languages (e.g., in narrative, picture description, conversation, translation). The present research builds on previous controlled studies of the domain of human motion by eliciting descriptions of a wide range of manners of walking and running filmed in natural circumstances. Descriptions were elicited from speakers of two satellite-framed languages (English, Polish) and three verb-framed languages (French, Spanish, Basque). The sampling of events in this study resulted in four major semantic clusters for these five languages: walking, running, non-canonical gaits (divided into bounce-and-recoil and syncopated movements), and quadrupedal movement (crawling). Counts of verb types found a broad tendency for satellite-framed languages to show greater lexical diversity, along with substantial within group variation. Going beyond most earlier studies, we also examined extended descriptions of manner of movement, isolating types of manner. The following categories of manner were identified and compared: attitude of actor, rate, effort, posture, and motor patterns of legs and feet. Satellite-framed speakers tended to elaborate expressive manner verbs, whereas verb-framed speakers used modification to add manner to neutral motion verbs

Abstract

The spinocerebellar ataxias (SCAs) form an ever-growing group of neurodegenerative disorders causing dysfunction of the cerebellum and loss of motor control in patients. Currently, 41 different genetic causes have been identified, with each mutation affecting a different gene. Interestingly, these diverse genetic causes all disrupt cerebellar function and produce similar symptoms in patients. In order to understand the disease better, and define possible therapeutic targets for multiple SCAs, the field has been searching for common ground among the SCAs. In this review, we discuss the physiology of climbing fibers and the possibility that climbing fiber dysfunction is a point of convergence for at least a subset of SCAs.

Abstract

Spinocerebellar ataxia type 23 (SCA23) is caused by missense mutations in prodynorphin, encoding the precursor protein for the opioid neuropeptides a -neoendorphin, Dynorphin (Dyn) A and Dyn B, leading to neurotoxic elevated mutant Dyn A levels. Dyn A acts on opioid receptors to reduce pain in the spinal cord, but its cerebellar function remains largely unknown. Increased concentration of or prolonged exposure to Dyn A is neurotoxic and these deleterious effects are very likely caused by an N - methyl- D -aspartate-mediated non-opioid mechanism as Dyn A peptides were shown to bind NMDA receptors and potentiate their glutamate-evoked currents. In the present study, we investigated the cellular mechanisms underlying SCA23-mutant Dyn A neurotoxicity. We show that SCA23 mutations in the Dyn A-coding region disrupted peptide secondary structure leading to a loss of the N-terminal a -helix associated with decreased j -opioid receptor affinity. Additionally, the altered secondary structure led to increased peptide stability of R6W and R9C Dyn A, as these peptides showed marked degradation resistance, which coin- cided with decreased peptide solubility. Notably, L5S Dyn A displayed increased degradation and no aggregation. R6W and wt Dyn A peptides were most toxic to primary cerebellar neurons. For R6W Dyn A, this is likely because of a switch from opioid to NMDA- receptor signalling, while for wt Dyn A, this switch was not observed. We propose that the pathology of SCA23 results from converging mechanisms of loss of opioid-mediated neuroprotection and NMDA-mediated excitotoxicity.

Abstract

Cerebellar ataxias are progressive neurodegenerative disorders characterized by atrophy of the cerebellum leading to motor dysfunction, balance problems, and limb and gait ataxia. These include among others, the dominantly inherited spinocerebellar ataxias, recessive cerebellar ataxias such as Friedreich's ataxia, and X-linked cerebellar ataxias. Since all cerebellar ataxias display considerable overlap in their disease phenotypes, common pathological pathways must underlie the selective cerebellar neurodegeneration. Therefore, it is important to identify the molecular mechanisms and routes to neurodegeneration that cause cerebellar ataxia. In this review, we discuss the use of functional genomic approaches including whole-exome sequencing, genome-wide gene expression profiling, miRNA profiling, epigenetic profiling, and genetic modifier screens to reveal the underlying pathogenesis of various cerebellar ataxias. These approaches have resulted in the identification of many disease genes, modifier genes, and biomarkers correlating with specific stages of the disease. This article is part of a Special Issue entitled: From Genome to Function.

Abstract

Learning to read and write requires an individual to connect additional orthographic representations to pre-existing mappings between phonological and semantic representations of words. Past empirical results suggest that the process of learning to read and write (at least in alphabetic languages) elicits changes in the language processing system, by either increasing the cognitive efficiency of mapping between representations associated with a word, or by changing the granularity of phonological processing of spoken language, or through a combination of both. Behavioural effects of literacy have typically been assessed in offline explicit tasks that have addressed only phonological processing. However, a recent eye tracking study compared high and low literate participants on effects of phonology and semantics in processing measured implicitly using eye movements. High literates’ eye movements were more affected by phonological overlap in online speech than low literates, with only subtle differences observed in semantics. We determined whether these effects were due to cognitive efficiency and/or granularity of speech processing in a multimodal model of speech processing – the amodal shared resource model (ASR, Smith, Monaghan, & Huettig, 2013). We found that cognitive efficiency in the model had only a marginal effect on semantic processing and did not affect performance for phonological processing, whereas fine-grained versus coarse-grained phonological representations in the model simulated the high/low literacy effects on phonological processing, suggesting that literacy has a focused effect in changing the grain-size of phonological mappings.

Abstract

We present the results of a large-scale study on speech perception, assessing the number and type of perceptual hypotheses which listeners entertain about possible phoneme sequences in their language. Dutch listeners were asked to identify gated fragments of all 1179 diphones of Dutch, providing a total of 488 520 phoneme categorizations. The results manifest orderly uptake of acoustic information in the signal. Differences across phonemes in the rate at which fully correct recognition was achieved arose as a result of whether or not potential confusions could occur with other phonemes of the language ~long with short vowels, affricates with their initial components, etc.!. These data can be used to improve models of how acoustic phonetic information is mapped onto the mental lexicon during speech comprehension.

Abstract

A quantitative model of human categorization behavior is proposed, which can be applied to 4-alternative forced-choice categorization data involving two binary classifications. A number of processing dependencies between the two classifications are explicitly formulated, such as the dependence of the location, orientation, and steepness of the class boundary for one classification on the outcome of the other classification. The significance of various types of dependencies can be tested statistically. Analyses of a data set from the literature shows that interesting dependencies in human speech recognition can be uncovered using the model.

Abstract

De novo disruptions of the neural transcription factor FOXP1 are a recently discovered, rare cause of sporadic intellectual disability (ID). We report three new cases of FOXP1-related disorder identified through clinical whole-exome sequencing. Detailed phenotypic assessment confirmed that global developmental delay, autistic features, speech/language deficits, hypotonia and mild dysmorphic features are core features of the disorder. We expand the phenotypic spectrum to include sensory integration disorder and hypertelorism. Notably, the etiological variants in these cases include two missense variants within the DNA-binding domain of FOXP1. Only one such variant has been reported previously. The third patient carries a stop-gain variant. We performed functional characterization of the three missense variants alongside our stop-gain and two previously described truncating/frameshift variants. All variants severely disrupted multiple aspects of protein function. Strikingly, the missense variants had similarly severe effects on protein function as the truncating/frameshift variants. Our findings indicate that a loss of transcriptional repression activity of FOXP1 underlies the neurodevelopmental phenotype in FOXP1-related disorder. Interestingly, the three novel variants retained the ability to interact with wild-type FOXP1, suggesting these variants could exert a dominant-negative effect by interfering with the normal FOXP1 protein. These variants also retained the ability to interact with FOXP2, a paralogous transcription factor disrupted in rare cases of speech and language disorder. Thus, speech/language deficits in these individuals might be worsened through deleterious effects on FOXP2 function. Our findings highlight that de novo FOXP1 variants are a cause of sporadic ID and emphasize the importance of this transcription factor in neurodevelopment.

Abstract

We present results from cross-modal priming experiments on German participles and noun plurals. The experiments produced parallel results for both inflectional systems. Regular inflection exhibits full priming whereas irregularly inflected word forms show only partial priming: after hearing regularly inflected words (-t participles and -s plurals), lexical decision times on morphologically related word forms (presented visually) were similar to reaction times for a base-line condition in which prime and target were identical, but significantly shorter than in a control condition where prime and target were unrelated. In contrast, prior presentation of irregular words (-n participles and -er plurals) led to significantly longer response times on morphologically related word forms than the prior presentation of the target itself. Hence, there are clear priming differences between regularly and irregularly inflected German words. We compare the findings on German with experimental results on regular and irregular inflection in English and Italian, and discuss theoretical implications for single versus dual-mechanism models of inflection.

Abstract

The auditory scene is a mental representation of individual sounds extracted from the summed sound waveform reaching the ears of the listeners. Musical contexts represent particularly complex cases of auditory scenes. In such a scenario, melody may be seen as the main object moving on a background represented by the accompaniment. Both melody and accompaniment vary in time according to harmonic rules, forming a typical texture with melody in the most prominent, salient voice. In the present sparse acquisition functional magnetic resonance imaging study, we investigated the interplay between melody and accompaniment in trained pianists, by observing the activation responses elicited by processing: (1) melody placed in the upper and lower texture voices, leading to, respectively, a higher and lower auditory salience; (2) harmonic violations occurring in either the melody, the accompaniment, or both. The results indicated that the neural activation elicited by the processing of polyphonic compositions in expert musicians depends upon the upper versus lower position of the melodic line in the texture, and showed an overall greater activation for the harmonic processing of melody over accompaniment. Both these two predominant effects were characterized by the involvement of the posterior cingulate cortex and precuneus, among other associative brain regions. We discuss the prominent role of the posterior medial cortex in the processing of melodic and harmonic information in the auditory stream, and propose to frame this processing in relation to the cognitive construction of complex multimodal sensory imagery scenes.

Abstract

The current study investigated the influence of a play-based curriculum on the development of pretend play skills and oral language in children attending their first year of formal schooling. In this quasi-experimental design, two groups of children were followed longitudinally across the first 6 months of their first year at school. The children in the experimental group were attending a school with a play-based curriculum; the children in the control group were attending schools following a traditional curriculum. A total of 54 children (Time 1 Mage = 5;6, range: 4;10–6;2 years) completed standardised measures of pretend play and narrative language skills upon school entry and again 6 months later. The results showed that the children in the play-based group significantly improved on all measures, whereas the children in the traditional group did not. A subset of the sample of children (N = 28, Time 1 Mage = 5;7, range: 5;2 – 6;1) also completed additional measures of vocabulary and grammar knowledge, and a test of non-verbal IQ. The results suggested that, in addition to improving play skills and narrative language ability, the play-based curriculum also had a positive influence on the acquisition of grammar.

Abstract

OBJECTIVE: Genome-wide association studies (GWAS) of BMI are mostly undertaken under the assumption that "kg/m(2) " is an index of weight fully adjusted for height, but in general this is not true. The aim here was to assess the contribution of common genetic variation to a adjusted version of that phenotype which appropriately accounts for covariation in height in children. METHODS: A GWAS of height-adjusted BMI (BMI[x] = weight/height(x) ), calculated to be uncorrelated with height, in 5809 participants (mean age 9.9 years) from the Avon Longitudinal Study of Parents and Children (ALSPAC) was performed. RESULTS: GWAS based on BMI[x] yielded marked differences in genomewide results profile. SNPs in ADCY3 (adenylate cyclase 3) were associated at genome-wide significance level (rs11676272 (0.28 kg/m(3.1) change per allele G (0.19, 0.38), P = 6 × 10(-9) ). In contrast, they showed marginal evidence of association with conventional BMI [rs11676272 (0.25 kg/m(2) (0.15, 0.35), P = 6 × 10(-7) )]. Results were replicated in an independent sample, the Generation R study. CONCLUSIONS: Analysis of BMI[x] showed differences to that of conventional BMI. The association signal at ADCY3 appeared to be driven by a missense variant and it was strongly correlated with expression of this gene. Our work highlights the importance of well understood phenotype use (and the danger of convention) in characterising genetic contributions to complex traits.

Abstract

While a training model of cognitive intervention targets the improvement of particular skills through instruction and practice, an engagement model is based on the idea that being embedded in an intellectually and socially complex environment can impact cognition, perhaps even broadly, without explicit instruction. We contrasted these 2 models of cognitive enrichment by randomly assigning healthy older adults to a home-based inductive reasoning training program, a team-based competitive program in creative problem solving, or a wait-list control. As predicted, those in the training condition showed selective improvement in inductive reasoning. Those in the engagement condition, on the other hand, showed selective improvement in divergent thinking, a key ability exercised in creative problem solving. On average, then, both groups appeared to show ability-specific effects. However, moderators of change differed somewhat for those in the engagement and training interventions. Generally, those who started either intervention with a more positive cognitive profile showed more cognitive growth, suggesting that cognitive resources enabled individuals to take advantage of environmental enrichment. Only in the engagement condition did initial levels of openness and social network size moderate intervention effects on cognition, suggesting that comfort with novelty and an ability to manage social resources may be additional factors contributing to the capacity to take advantage of the environmental complexity associated with engagement. Collectively, these findings suggest that training and engagement models may offer alternative routes to cognitive resilience in late life

Abstract

Relying on the methodology of conversation analysis, this article examines a practice in ordinary conversation characterized by the resaying of a word, phrase, or sentence. The article shows that multiple sayings such as "No no no" or "Alright alright alright" are systematic in both their positioning relative to the interlocutor's talk and in their function. Specifically, the findings are that multiple sayings are a resource speakers have to display that their turn is addressing an in progress course of action rather than only the just prior utterance. Speakers of multiple sayings communicate their stance that the prior speaker has persisted unnecessarily in the prior course of action and should properly halt course of action.

Abstract

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Cleft Palate-Craniofacial Journal
Volume 53, Issue 3, May 2016, Pages 317-325
Opportunities and challenges in establishing a cohort study: An example from cleft lip/palate research in the United Kingdom (Article)
Stock, N.M.a ,
Humphries, K.b,
St. Pourcain, B.b,
Bailey, M.b,
Persson, M.a,
Ho, K.M.b,
Ring, S.b,
Marsh, C.c,
Albery, L.c,
Rumsey, N.a,
Sandy, J.b


a Centre for Appearance Research, University of the West of England, Coldharbour Lane, Bristol, United Kingdom
b Faculty of Medicine and Dentistry, University of Bristol, United Kingdom
c South West Cleft Service, University Hospitals Bristol NHS Foundation Trust, United Kingdom
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View references (32)
Abstract

Background: Cleft lip and/or palate (CL/P) is one of the most common birth conditions in the world, but little is known about its causes. Professional opinion remains divided as to which treatments may be the most beneficial for patients with CL/P, and the factors that contribute to psychological adjustment are poorly understood. The use of different methodological approaches and tools plays a key role in hampering efforts to address discrepancies within the evidence base. A new UK-wide program of research, The Cleft Collective, was established to combat many of these methodological challenges and to address some of the key research questions important to all CL/P stakeholders. Objective: To describe the establishment of CL/P cohort studies in the United Kingdom and to consider the many opportunities this resource will generate. Results: To date, protocols have been developed and implemented within most UK cleft teams. Biological samples, environmental information, and data pertaining to parental psychological well-being and child development are being collected successfully. Recruitment is currently on track to meet the ambitious target of approximately 9800 individuals from just more than 3000 families. Conclusions: The Cleft Collective cohort studies represent a significant step forward for research in the field of CL/P. The data collected will form a comprehensive resource of information about individuals with CL/P and their families. This resource will provide the basis for many future projects and collaborations, both in the United Kingdom and around the world.

Abstract

How can we understand each other during communicative interactions? An influential suggestion holds that communicators are primed by each other’s behaviors, with associative mechanisms automatically coordinating the production of communicative signals and the comprehension of their meanings. An alternative suggestion posits that mutual understanding requires shared conceptualizations of a signal’s use, i.e., “conceptual pacts” that are abstracted away from specific experiences. Both accounts predict coherent neural dynamics across communicators, aligned either to the occurrence of a signal or to the dynamics of conceptual pacts. Using coherence spectral-density analysis of cerebral activity simultaneously measured in pairs of communicators, this study shows that establishing mutual understanding of novel signals synchronizes cerebral dynamics across communicators’ right temporal lobes. This interpersonal cerebral coherence occurred only within pairs with a shared communicative history, and at temporal scales independent from signals’ occurrences. These findings favor the notion that meaning emerges from shared conceptualizations of a signal’s use.

Abstract

Despite the ambiguity inherent in human communication, people are remarkably efficient in establishing mutual understanding. Studying how people communicate in novel settings provides a window into the mechanisms supporting the human competence to rapidly generate and understand novel shared symbols, a fundamental property of human communication. Previous work indicates that the right posterior superior temporal sulcus (pSTS) is involved when people understand the intended meaning of novel communicative actions. Here, we set out to test whether normal functioning of this cerebral structure is required for understanding novel communicative actions using inhibitory low-frequency repetitive transcranial magnetic stimulation (rTMS). A factorial experimental design contrasted two tightly matched stimulation sites (right pSTS vs. left MT+, i.e. a contiguous homotopic task-relevant region) and tasks (a communicative task vs. a visual tracking task that used the same sequences of stimuli). Overall task performance was not affected by rTMS, whereas changes in task performance over time were disrupted according to TMS site and task combinations. Namely, rTMS over pSTS led to a diminished ability to improve action understanding on the basis of recent communicative history, while rTMS over MT+ perturbed improvement in visual tracking over trials. These findings qualify the contributions of the right pSTS to human communicative abilities, showing that this region might be necessary for incorporating previous knowledge, accumulated during interactions with a communicative partner, to constrain the inferential process that leads to action understanding.

Abstract

Finnish vowel harmony rules require that if the vowel in the first syllable of a word belongs to one of two vowel sets, then all subsequent vowels in that word must belong either to the same set or to a neutral set. A harmony mismatch between two syllables containing vowels from the opposing sets thus signals a likely word boundary. We report five experiments showing that Finnish listeners can exploit this information in an on-line speech segmentation task. Listeners found it easier to detect words likehymyat the end of the nonsense stringpuhymy(where there is a harmony mismatch between the first two syllables) than in the stringpyhymy(where there is no mismatch). There was no such effect, however, when the target words appeared at the beginning of the nonsense string (e.g.,hymypuvshymypy). Stronger harmony effects were found for targets containing front harmony vowels (e.g.,hymy) than for targets containing back harmony vowels (e.g.,paloinkypaloandkupalo). The same pattern of results appeared whether target position within the string was predictable or unpredictable. Harmony mismatch thus appears to provide a useful segmentation cue for the detection of word onsets in Finnish speech.

Abstract

Spoken language comprehension requires rapid integration of information from multiple linguistic sources. In the present study we addressed the temporal aspects of this integration process by focusing on the time course of the selection of the appropriate meaning of lexical ambiguities (“bank”) in sentence contexts. Successful selection of the contextually appropriate meaning of the ambiguous word is dependent upon the rapid binding of the contextual information in the sentence to the appropriate meaning of the ambiguity. We used the N400 to identify the time course of this binding process. The N400 was measured to target words that followed three types of context sentences. In the concordant context, the sentence biased the meaning of the sentence-final ambiguous word so that it was related to the target. In the discordant context, the sentence context biased the meaning so that it was not related to the target. In the unrelated control condition, the sentences ended in an unambiguous noun that was unrelated to the target. Half of the concordant sentences biased the dominant meaning, and the other half biased the subordinate meaning of the sentence-final ambiguous words. The ISI between onset of the target word and offset of the sentence-final word of the context sentence was 100 ms in one version of the experiment, and 1250 ms in the second version. We found that (i) the lexically dominant meaning is always partly activated, independent of context, (ii) initially both dominant and subordinate meaning are (partly) activated, which suggests that contextual and lexical factors both contribute to sentence interpretation without context completely overriding lexical information, and (iii) strong lexical influences remain present for a relatively long period of time.

Abstract

In this study the N400 component of the event-related potential was used to investigate spoken sentence understanding in Broca's and Wernicke's aphasics. The aim of the study was to determine whether spoken sentence comprehension problems in these patients might result from a deficit in the on-line integration of lexical information. Subjects listened to sentences spoken at a normal rate. In half of these sentences, the meaning of the final word of the sentence matched the semantic specifications of the preceding sentence context. In the other half of the sentences, the sentence-final word was anomalous with respect to the preceding sentence context. The N400 was measured to the sentence-final words in both conditions. The results for the aphasic patients (n = 14) were analyzed according to the severity of their comprehension deficit and compared to a group of 12 neurologically unimpaired age-matched controls, as well as a group of 6 nonaphasic patients with a lesion in the right hemisphere. The nonaphasic brain damaged patients and the aphasic patients with a light comprehension deficit (high comprehenders, n = 7) showed an N400 effect that was comparable to that of the neurologically unimpaired subjects. In the aphasic patients with a moderate to severe comprehension deficit (low comprehenders, n = 7), a reduction and delay of the N400 effect was obtained. In addition, the P300 component was measured in a classical oddball paradigm, in which subjects were asked to count infrequent low tones in a random series of high and low tones. No correlation was found between the occurrence of N400 and P300 effects, indicating that changes in the N400 results were related to the patients' language deficit. Overall, the pattern of results was compatible with the idea that aphasic patients with moderate to severe comprehension problems are impaired in the integration of lexical information into a higher order representation of the preceding sentence context.

Abstract

This study investigates whether spoken sentence comprehension deficits in Broca's aphasics results from their inability to access the subordinate meaning of ambiguous words (e.g. bank), or alternatively, from a delay in their selection of the contextually appropriate meaning. Twelve Broca's aphasics and twelve elderly controls were presented with lexical ambiguities in three context conditions, each followed by the same target words. In the concordant condition, the sentence context biased the meaning of the sentence final ambiguous word that was related to the target. In the discordant condition, the sentence context biased the meaning of the sentence final ambiguous word that was incompatible with the target.In the unrelated condition, the sentence-final word was unambiguous and unrelated to the target. The task of the subjects was to listen attentively to the stimuli The activational status of the ambiguous sentence-final words was inferred from the amplitude of the N399 to the targets at two inter-stimulus intervals (ISIs) (100 ms and 1250 ms). At the short ISI, the Broca's aphasics showed clear evidence of activation of the subordinate meaning. In contrast to elderly controls, however, the Broca's aphasics were not successful at selecting the appropriate meaning of the ambiguity in the short ISI version of the experiment. But at the long ISI, in accordance with the performance of the elderly controls, the patients were able to successfully complete the contextual selection process. These results indicate that Broca's aphasics are delayed in the process of contextual selection. It is argued that this finding of delayed selection is compatible with the idea that comprehension deficits in Broca's aphasia result from a delay in the process of integrating lexical information.

Abstract

This volume on Inuit speech follows the evolution of a native language of the North American Arctic, from its historical roots to its present-day linguistic structure and patterns of use from Alaska to Greenland. Drawing on a wide range of research from the fields of linguistics, anthropology, and sociology, Dorais integrates these diverse perspectives in a comprehensive view of native language development, maintenance, and use under conditions of marginalization due to social transition.

Abstract

Although infants show remarkable sensitivity to linguistically relevant phonetic variation in speech, young children sometimes appear not to make use of this sensitivity. Here, children's knowledge of the sound-forms of familiar words was assessed using a visual fixation task. Dutch 19-month-olds were shown pairs of pictures and heard correct pronunciations and mispronunciations of familiar words naming one of the pictures. Mispronunciations were word-initial in Experiment 1 and word-medial in Experiment 2, and in both experiments involved substituting one segment with [d] (a common sound in Dutch) or [g] (a rare sound). In both experiments, word recognition performance was better for correct pronunciations than for mispronunciations involving either substituted consonant. These effects did not depend upon children's knowledge of lexical or nonlexical phonological neighbors of the tested words. The results indicate the encoding of phonetic detail in words at 19 months.

Abstract

To investigate the neural underpinnings of word decoding, and how it changes as a function of repeated exposure, we trained Dutch participants repeatedly over the course of a month of training to articulate a set of novel disyllabic input strings written in Greek script to avoid the use of familiar orthographic representations. The syllables in the input were phonotactically legal combinations but non-existent in the Dutch language, allowing us to assess their role in novel word decoding. Not only trained disyllabic pseudowords were tested but also pseudowords with recombined patterns of syllables to uncover the emergence of syllabic representations. We showed that with extensive training, articulation became faster and more accurate for the trained pseudowords. On the neural level, the initial stage of decoding was reflected by increased activity in visual attention areas of occipito-temporal and occipito-parietal cortices, and in motor coordination areas of the precentral gyrus and the inferior frontal gyrus. After one month of training, memory representations for holistic information (whole word unit) were established in areas encompassing the angular gyrus, the precuneus and the middle temporal gyrus. Syllabic representations also emerged through repeated training of disyllabic pseudowords, such that reading recombined syllables of the trained pseudowords showed similar brain activation to trained pseudowords and were articulated faster than novel combinations of letter strings used in the trained pseudowords.

Abstract

Printed text can be decoded by utilizing different processing routes depending on the familiarity of the script. A predominant use of word-level decoding strategies can be expected in the case of a familiar script, and an almost exclusive use of letter-level decoding strategies for unfamiliar scripts. Behavioural studies have revealed that frequently occurring words are read more efficiently, suggesting that these words are read in a more holistic way at the word-level, than infrequent and unfamiliar words. To test whether repeated exposure to specific letter combinations leads to holistic reading, we monitored both behavioural and neural responses during novel script decoding and examined changes related to repeated exposure. We trained a group of Dutch university students to decode pseudowords written in an unfamiliar script, i.e., Korean Hangul characters. We compared behavioural and neural responses to pronouncing trained versus untrained two-character pseudowords (equivalent to two-syllable pseudowords). We tested once shortly after the initial training and again after a four days' delay that included another training session. We found that trained pseudowords were pronounced faster and more accurately than novel combinations of radicals (equivalent to letters). Imaging data revealed that pronunciation of trained pseudowords engaged the posterior temporo-parietal region, and engagement of this network was predictive of reading efficiency a month later. The results imply that repeated exposure to specific combinations of graphemes can lead to emergence of holistic representations that result in efficient reading. Furthermore, inter-individual differences revealed that good learners retained efficiency more than bad learners one month later

Abstract

It is well documented that emotionally arousing experiences are better remembered than mundane events. This is thought to occur through hippocampus-amygdala crosstalk during encoding, consolidation, and retrieval. Here we investigated whether emotional events (context) also cause a memory benefit for simultaneously encoded non-arousing contents and whether this effect persists after a delay via recruitment of a similar hippocampus-amygdala network. Participants studied neutral pictures (content) encoded together with either an arousing or a neutral sound (that served as context) in two study sessions three days apart. Memory was tested in a functional magnetic resonance scanner directly after the second study session. Pictures recognised with high confidence were more often thought to have been associated with an arousing than with a neutral context, irrespective of the veridical source memory. If the retrieved context was arousing, an area in the hippocampus adjacent to the amygdala exhibited heightened activation and this area increased functional connectivity with the parahippocampal gyrus, an area known to process pictures of scenes. These findings suggest that memories can be shaped by the retrieval act. Memory structures may be recruited to a higher degree when an arousing context is retrieved, and this may give rise to confident judgments of recognition for neutral pictures even after a delay

Abstract

The complementary learning systems account of declarative memory suggests two distinct memory networks, a fast-mapping, episodic system involving the hippocampus, and a slower semantic memory system distributed across the neocortex in which new information is gradually integrated with existing representations. In this study, we investigated the extent to which these two networks are involved in the integration of novel words into the lexicon after extensive learning, and how the involvement of these networks changes after 24 hours. In particular, we explored whether having richer information at encoding influences the lexicalization trajectory. We trained participants with two sets of novel words, one where exposure was only to the words’ phonological forms (the form-only condition), and one where pictures of unfamiliar objects were associated with the words’ phonological forms (the picture-associated condition). A behavioral measure of lexical competition (indexing lexicalization) indicated stronger competition effects for the form-only words. Imaging (fMRI) results revealed greater involvement of phonological lexical processing areas immediately after training in the form-only condition, suggesting tight connections were formed between novel words and existing lexical entries already at encoding. Retrieval of picture-associated novel words involved the episodic/hippocampal memory system more extensively. Although lexicalization was weaker in the picture-associated condition, overall memory strength was greater when tested after a 24 hours’ delay, probably due to the availability of both episodic and lexical memory networks to aid retrieval. It appears that, during lexicalization of a novel word, the relative involvement of different memory networks differs according to the richness of the information about that word available at encoding.

Abstract

Not unlike the tonal system in Chinese, Japanese habitually attaches pitch accents to the production of words. However, in contrast to Chinese, few homophonic word-pairs are really distinguished by pitch accents (Shibata & Shibata, 1990). This predicts that pitch accent plays a small role in lexical selection for Japanese language comprehension. The present study investigated whether native Japanese speakers necessarily use pitch accent in the processing of accent-contrasted homophonic pairs (e.g., ame [LH] for 'candy' and ame [HI] for 'rain') measuring electroencephalographic (EEG) potentials. Electrophysiological evidence (i.e., N400) was obtained when a word was semantically incorrect for a given context but not for incorrectly accented homophones. This suggests that pitch accent indeed plays a minor role when understanding Japanese. (C) 2013 Elsevier Ltd. All rights reserved.

Abstract

The murine homologue of the human chloride channel gene, CLCN5, defects in which are responsible for Dent disease, has been cloned and characterized. We isolated the entire coding region of mouse Clcn5 cDNA and approximately 45 kb of genomic sequence embracing the gene. To study its transcriptional control, the 5' upstream sequences of the mouse Clcn5 gene were cloned into a luciferase reporter vector. Deletion analysis of 1.5 kb of the 5' flanking sequence defined an active promoter region within 128 bp of the putative transcription start site, which is associated with a TATA motif but lacks a CAAT consensus. Within this sequence, there is a motif with homology to a purine-rich sequence responsible for the kidney-specific promoter activity of the rat CLC-K1 gene, another member of the chloride-channel gene family expressed in kidney. An enhancer element that confers a 10- to 20-fold increase in the promoter activity of the mouse Clcn5 gene was found within the first intron. The organization of the human CLCN5 and mouse Clcn5 gene structures is highly conserved, and the sequence of the murine protein is 98% similar to that of human, with its highest expression seen in the kidney. This study thus provides the first identification of the transcriptional control region of, and the basis for an understanding of the regulatory mechanism that controls, this kidney-specific, chloride-channel gene.

Abstract

Attraction interference in language comprehension and production may be as a result of common or different processes. In the present paper, we investigate attraction interference during language comprehension, focusing on the contexts in which interference arises and the time-course of these effects. Using evidence from event-related brain potentials (ERPs) and sentence judgment times, we show that agreement attraction in comprehension is best explained as morphosyntactic interference during memory retrieval. This stands in contrast to attraction as a message-level process involving the representation of the subject NP's number features, which is a strong contributor to attraction in production. We thus argue that the cognitive antecedents of agreement attraction in comprehension are non-identical with those of attraction in production, and moreover, that attraction in comprehension is primarily a consequence of similarity-based interference in cue-based memory retrieval processes. We suggest that mechanisms responsible for attraction during language comprehension are a subset of those involved in language production.

Abstract

Stimulus categorization is influenced by oscillations in the brain. For example, we have shown that ongoing oscillatory phase biases identification of an ambiguous syllable that can either be perceived as /da/ or /ga/. This suggests that phase is a cue for the brain to determine syllable identity and this cue could be an element of the representation of these syllables. If so, brain activation patterns for /da/ should be more unique when the syllable is presented at the /da/ biasing (i.e. its "preferred") phase. To test this hypothesis we presented non-ambiguous /da/ and /ga/ syllables at either their preferred or non-preferred phase ( using sensory entrainment) while measuring 7T fMRI. Using multivariate pattern analysis in auditory regions we show that syllable decoding performance is higher when syllables are presented at their preferred compared to their non-preferred phase. These results suggest that phase information increases the distinctiveness of /da/ and /ga/ brain activation patterns. (C) 2016 Elsevier Inc. All rights reserved.

Abstract

Our understanding of how perception operates in real-world environments has been substantially advanced by studying both multisensory processes and "top-down" control processes influencing sensory processing via activity from higher-order brain areas, such as attention, memory, and expectations. As the two topics have been traditionally studied separately, the mechanisms orchestrating real-world multisensory processing remain unclear. Past work has revealed that the observer's goals gate the influence of many multisensory processes on brain and behavioural responses, whereas some other multisensory processes might occur independently of these goals. Consequently, other forms of top-down control beyond goal dependence are necessary to explain the full range of multisensory effects currently reported at the brain and the cognitive level. These forms of control include sensitivity to stimulus context as well as the detection of matches (or lack thereof) between a multisensory stimulus and categorical attributes of naturalistic objects (e.g. tools, animals). In this review we discuss and integrate the existing findings that demonstrate the importance of such goal-, object- and context-based top-down control over multisensory processing. We then put forward a few principles emerging from this literature review with respect to the mechanisms underlying multisensory processing and discuss their possible broader implications.

Abstract

In recent years, it has become increasingly clear that both the power and phase of oscillatory brain activity can influence the processing and perception of sensory stimuli. Transcranial alternating current stimulation (tACS) can phase-align and amplify endogenous brain oscillations and has often been used to control and thereby study oscillatory power. Causal investigation of oscillatory phase is more difficult, as it requires precise real-time temporal control over both oscillatory phase and sensory stimulation. Here, we present hardware and software solutions allowing temporally precise presentation of sensory stimuli during tACS at desired tACS phases, enabling causal investigations of oscillatory phase. We developed freely available and easy to use software, which can be coupled with standard commercially available hardware to allow flexible and multi-modal stimulus presentation (visual, auditory, magnetic stimuli, etc.) at pre-determined tACS-phases, opening up a range of new research opportunities. We validate that stimulus presentation at tACS phase in our setup is accurate to the sub-millisecond level with high inter-trial consistency. Conventional methods investigating the role of oscillatory phase such as magneto-/electroencephalography can only provide correlational evidence. Using brain stimulation with the described methodology enables investigations of the causal role of oscillatory phase. This setup turns oscillatory phase into an independent variable, allowing innovative, and systematic studies of its functional impact on perception and cognition.

Abstract

Temporal structure in the environment often has predictive value for anticipating the occurrence of forthcoming events. In this study we investigated the influence of two types of predictive temporal information on the perception of near-threshold auditory stimuli: 1) intrinsic temporal rhythmicity within an auditory stimulus stream and 2) temporally-predictive visual cues. We hypothesized that combining predictive temporal information within- and across-modality should decrease the threshold at which sounds are detected, beyond the advantage provided by each information source alone. Two experiments were conducted in which participants had to detect tones in noise. Tones were presented in either rhythmic or random sequences and were preceded by a temporally predictive visual signal in half of the trials. We show that detection intensities are lower for rhythmic (vs. random) and audiovisual (vs. auditory-only) presentation, independent from response bias, and that this effect is even greater for rhythmic audiovisual presentation. These results suggest that both types of temporal information are used to optimally process sounds that occur at expected points in time (resulting in enhanced detection), and that multiple temporal cues are combined to improve temporal estimates. Our findings underscore the flexibility and proactivity of the perceptual system which uses within- and across-modality temporal cues to anticipate upcoming events and process them optimally. (C) 2014 Elsevier Ltd. All rights reserved.

Abstract

This paper presents electrophysiological data on the on-line processing of open- and closed-class words in patients with Broca’s aphasia with agrammatic comprehension. Event-related brain potentials were recorded from the scalp when Broca patients and nonaphasic control subjects were visually presented with a story in which the words appeared one at a time on the screen. Separate waveforms were computed for open- and closed-class words. The non-aphasic control subjects showed clear differences between the processing of open- and closed-class words in an early (210-375 ms) and a late (400-700 ms) time-window.The early electrophysiological differences reflect the first manifestation of the availability of word-category information from the mental lexicon. The late differences presumably relate to post-lexical semantic and syntactic processing. In contrast to the control subjects, the Broca patients showed no early vocabulary class effect and only a limited late effect. The results suggest that an important factor in the agrammatic comprehension deficit of Broca’s aphasics is a delayed and/or incomplete availability of word-class information.

Abstract

This paper discusses the development of an orthography for the Touo language (Solomon Islands). Various orthographies have been proposed for this language in the past, and the paper discusses why they are perceived by the community to have failed. Current opinion about orthography development within the Touo-speaking community is divided along religious, political, and geographical grounds; and the development of a successful orthography must take into account a variety of opinions. The paper examines the social, historical, and linguistic obstacles that have hitherto prevented the development of an accepted Touo orthography, and presents a new proposal which has thus far gained acceptance with community leaders. The fundamental issue is that creating an orthography for a language takes place in a social, political, and historical context; and for an orthography to be acceptable for the speakers of a language, all these factors must be taken into account.

Abstract

The extent to which linguistic borrowing can be used to shed light on the existence and nature of early contact between Papuan and Oceanic speakers is examined. The question is addressed by taking one Papuan language, Lavukaleve, spoken in the Russell Islands, central Solomon Islands and examining lexical borrowings between it and nearby Oceanic languages, and with reconstructed forms of Proto Oceanic. Evidence from ethnography, culture history and archaeology, when added to the linguistic evidence provided in this study, indicates long-standing cultural links between other (non-Russell) islands. The composite picture is one of a high degree of cultural contact with little linguistic mixing, i.e., little or no changes affecting the structure of the languages and actually very little borrowed vocabulary.

Abstract

Providing the neurobiological basis of information processing in higher animals, spiking neural networks must be able to learn a variety of complicated computations, including the generation of appropriate, possibly delayed reactions to inputs and the self-sustained generation of complex activity patterns, e.g. for locomotion. Many such computations require previous building of intrinsic world models. Here we show how spiking neural networks may solve these different tasks. Firstly, we derive constraints under which classes of spiking neural networks lend themselves to substrates of powerful general purpose computing. The networks contain dendritic or synaptic nonlinearities and have a constrained connectivity. We then combine such networks with learning rules for outputs or recurrent connections. We show that this allows to learn even difficult benchmark tasks such as the self-sustained generation of desired low-dimensional chaotic dynamics or memory-dependent computations. Furthermore, we show how spiking networks can build models of external world systems and use the acquired knowledge to control them.

Abstract

Gesture is an important precursor of children’s early language development, for example, in the transition to multiword speech and as a predictor of later language abilities. However, it is unclear whether gestural input can influence children’s comprehension of complex grammatical constructions. In Study 1, 3- (M = 3 years 5 months) and 4-year-old (M = 4 years 6 months) children witnessed 2-participant actions described using the infrequent object-cleft-construction (OCC; It was the dog that the cat chased). Half saw an experimenter accompanying her descriptions with gestures representing the 2 participants and indicating the direction of action; the remaining children did not witness gesture. Children who witnessed gestures showed better comprehension of the OCC than those who did not witness gestures, both in and beyond the immediate physical context, but this benefit was restricted to the oldest 4-year-olds. In Study 2, a further group of older 4-year-old children (M = 4 years 7 months) witnessed the same 2-participant actions described by an experimenter and accompanied by gestures, but the gesture represented only the 2 participants and not the direction of the action. Again, a benefit of gesture was observed on subsequent comprehension of the OCC. We interpret these findings as demonstrating that representational cospeech gestures can help children comprehend complex linguistic structures by highlighting the roles played by the participants in the event.

Abstract

In many areas of language acquisition, researchers have suggested that semantic generality plays an important role in determining the order of acquisition of particular lexical forms. However, generality is typically confounded with the effects of input frequency and it is therefore unclear to what extent semantic generality or input frequency determines the early acquisition of particular lexical items. The present study evaluates the relative influence of semantic status and properties of the input on the acquisition of verbs and their argument structures in the early speech of 9 English-speaking children from 2;0 to 3;0. The children's early verb utterances are examined with respect to (1) the order of acquisition of particular verbs in three different constructions, (2) the syntactic diversity of use of individual verbs, (3) the relative proportional use of semantically general verbs as a function of total verb use, and (4) their grammatical accuracy. The data suggest that although measures of semantic generality correlate with various measures of early verb use, once the effects of verb use in the input are removed, semantic generality is not a significant predictor of early verb use. The implications of these results for semantic-based theories of verb argument structure acquisition are discussed.

Abstract

The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA’s first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way

Abstract

We investigated 14-month-old infants’ expectations toward a third party addressee of communicative gestures and an instrumental action. Infants’ eye movements were tracked as they observed a person (the Gesturer) point, direct a palm-up request gesture, or reach toward an object, and another person (the Addressee) respond by grasping it. Infants’ looking patterns indicate that when the Gesturer pointed or used the palm-up request, infants anticipated that the Addressee would give the object to the Gesturer, suggesting that they ascribed a motive of request to the gestures. In contrast, when the Gesturer reached for the object, and in a control condition where no action took place, the infants did not anticipate the Addressee’s response. The results demonstrate that infants’ recognition of communicative gestures extends to others’ interactions, and that infants can anticipate how third-party addressees will respond to others’ gestures.

Abstract

PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal-dominant genetic condition underlying a subset of autism spectrum disorder (ASD) with macrocephaly. Caused by germline mutations in PTEN, PHTS also causes increased risks of multiple cancers via dysregulation of the PI3K and MAPK signaling pathways. Conditional knockout models have shown that neural Pten regulates social behavior, proliferation and cell size. Although much is known about how the intracellular localization of PTEN regulates signaling in cancer cell lines, we know little of how PTEN localization influences normal brain physiology and behavior. To address this, we generated a germline knock-in mouse model of cytoplasm-predominant Pten and characterized its behavioral and cellular phenotypes. The homozygous Ptenm3m4 mice have decreased total Pten levels including a specific drop in nuclear Pten and exhibit region-specific increases in brain weight. The Ptenm3m4 model displays sex-specific increases in social motivation, poor balance and normal recognition memory—a profile reminiscent of some individuals with high functioning ASD. The cytoplasm-predominant protein caused cellular hypertrophy limited to the soma and led to increased NG2 cell proliferation and accumulation of glia. The animals also exhibit significant astrogliosis and microglial activation, indicating a neuroinflammatory phenotype. At the signaling level, Ptenm3m4 mice show brain region-specific differences in Akt activation. These results demonstrate that differing alterations to the same autism-linked gene can cause distinct behavioral profiles. The Ptenm3m4 model is the first murine model of inappropriately elevated social motivation in the context of normal cognition and may expand the range of autism-related behaviors replicated in animal models.

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental condition with a clear, but heterogeneous, genetic component. Germline mutations in the tumor suppressor Pten are a well-established risk factor for ASD with macrocephaly, and conditional Pten mouse models have impaired social behavior and brain development. Some mutations observed in patients disrupt the normally balanced nuclear-cytoplasmic localization of the Pten protein, and we developed the Ptenm3m4 model to study the effects of a cytoplasm-predominant Pten. In this model, germline mislocalization of Pten causes inappropriate social behavior with intact learning and memory, a profile reminiscent of high-functioning ASD. These animals also exhibit histological evidence of neuroinflammation and expansion of glial populations by 6 weeks of age. We hypothesized that the neural transcriptome of this model would be altered in a manner that could inform human idiopathic ASD, a constitutional condition. Using total RNA sequencing, we found progressive disruption of neural gene expression in Ptenm3m4 mice from 2–6 weeks of age, involving both immune and synaptic pathways. These alterations include downregulation of many highly coexpressed human ASD-susceptibility genes. Comparison with a human cortical development coexpression network revealed that genes disrupted in Ptenm3m4 mice were enriched in the same areas as those of human ASD. Although Pten-related ASD is relatively uncommon, our observations suggest that the Ptenm3m4 model recapitulates multiple molecular features of human ASD, and that Pten operates far upstream of common pathways within ASD pathogenesis.

Abstract

In 3 experiments, we investigated whether intonational phrase structure can be primed. In all experiments, participants listened to sentences in which the presence and location of intonational phrase boundaries were manipulated such that the recording included either no intonational phrase boundaries, a boundary in a structurally dispreferred location, a boundary in a preferred location, or boundaries in both locations. In Experiment 1, participants repeated the sentences to test whether they would reproduce the prosodic structure they had just heard. Experiments 2 and 3 used a prime–target paradigm to evaluate whether the intonational phrase structure heard in the prime sentence might influence that of a novel target sentence. Experiment 1 showed that participants did repeat back sentences that they had just heard with the original intonational phrase structure, yet Experiments 2 and 3 found that exposure to intonational phrase boundaries on prime trials did not influence how a novel target sentence was prosodically phrased. These results suggest that speakers may retain the intonational phrasing of a sentence, but this effect is not long-lived and does not generalize across unrelated sentences. Furthermore, these findings provide no evidence that intonational phrase structure is formulated during a planning stage that is separate from other sources of linguistic information.

Abstract

Neuregulin 1 (NRG1) and v-erb-a erythroblastic leukemia viral oncogene homolog 4 (ErbB4) have been extensively studied in schizophrenia susceptibility because of their pivotal role in key neurodevelopmental processes. One of the reasons for the inconsistencies in results could be the fact that the phenotype investigated has mostly the diagnosis of schizophrenia per se, which is widely heterogeneous, both clinically and biologically. In the present study we tested, in a large cohort of 461 schizophrenia patients recruited in Scotland, whether several SNPs in NRG1 and/or ErbB4 are associated with schizophrenia symptom dimensions as evaluated by the Positive and Negative Syndrome Scale (PANSS). We then followed up nominally significant results in a second cohort of 439 schizophrenia subjects recruited in Germany. Using linear regression, we observed two different groups of polymorphisms in NRG1 gene: one showing a nominal association with higher scores of the PANSS positive dimension and the other one with higher scores of the PANSS negative dimension. Regarding ErbB4, a small cluster located in the 5' end of the gene was detected, showing nominal association mainly with negative, general and total dimensions of the PANSS. These findings suggest that some regions of NRG1 and ErbB4 are functionally involved in biological processes that underlie some of the phenotypic manifestations of schizophrenia. Because of the lack of significant association after correction for multiple testing, our analyses should be considered as exploratory and hypothesis generating for future studies.

Abstract

Fluctuations in pupil size have been shown to reflect variations in processing demands during lexical and syntactic processing in language comprehension. An issue that has not received attention is whether pupil size also varies due to pragmatic manipulations. In two pupillometry experiments, we investigated whether pupil diameter was sensitive to increased processing demands as a result of comprehending an indirect request versus a direct statement. Adult participants were presented with 120 picture–sentence combinations that could be interpreted either as an indirect request (a picture of a window with the sentence “it's very hot here”) or as a statement (a picture of a window with the sentence “it's very nice here”). Based on the hypothesis that understanding indirect utterances requires additional inferences to be made on the part of the listener, we predicted a larger pupil diameter for indirect requests than statements. The results of both experiments are consistent with this expectation. We suggest that the increase in pupil size reflects additional processing demands for the comprehension of indirect requests as compared to statements. This research demonstrates the usefulness of pupillometry as a tool for experimental research in pragmatics

Abstract

We present the concept of a community-augmented meta-analysis (CAMA), a simple yet novel tool that significantly facilitates the accumulation and evaluation of previous studies within a specific scientific field. A CAMA is a combination of a meta-analysis and an open repository. Like a meta-analysis, it is centered around a psychologically relevant topic and includes methodological details and standardized effect sizes. As in a repository, data do not remain undisclosed and static after publication but can be used and extended by the research community, as anyone can download all information and can add new data via simple forms. Based on our experiences with building three CAMAs, we illustrate the concept and explain how CAMAs can facilitate improving our research practices via the integration of past research, the accumulation of knowledge, and the documentation of file-drawer studies

Abstract

Although toddlers in their 2nd year of life generally have phonologically detailed representations of words, a consistent lack of sensitivity to certain kinds of phonological changes has been reported. The origin of these insensitivities is poorly understood, and uncovering their cause is crucial for obtaining a complete picture of early phonological development. The present study explored the origins of the insensitivity to the change from coronal to labial consonants. In cross-linguistic research, we assessed to what extent this insensitivity is language-specific (or would show both in learners of Dutch and a very different language like Japanese), and contrast/direction-specific to the coronal-to-labial change (or would also extend to the coronal-to-dorsal change). We measured Dutch and Japanese 18-month-old toddlers' sensitivity to labial and dorsal mispronunciations of newly learned coronal-initial words. Both Dutch and Japanese toddlers showed reduced sensitivity to the coronal-to-labial change, although this effect was more pronounced in Dutch toddlers. The lack of sensitivity was also specific to the coronal-to-labial change because toddlers from both language backgrounds were highly sensitive to dorsal mispronunciations. Combined with results from previous studies, the present outcomes are most consistent with an early, language-general bias specific to the coronal-to-labial change, which is modified by the properties of toddlers' early, language-specific lexicon