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Both the music and social bonding (MSB) hypothesis and the music as a credible signal hypothesis emerge as solid views of how human music and human musicality might have evolved. Nonetheless, both views could be improved (and tested in better ways) with the consideration of the way in which human language(s) might have evolved under the effects of our self-domestication.

Current typologies of developmental language disorders are mostly based on symptomatic criteria. Nonetheless, they often fail to categorize and characterize patients unambiguously, essentially because of the widespread problems of comorbidity and heterogeneity. Likewise, they usually fail to incorporate etiological factors in a precise way. These shortcomings are expected to impact negatively on therapies and the recovery of patient’s abilities. This paper advocates a systems biology approach to developmental language disorders, aimed to disentangle how the myriad of biological factors involved (at the bottom) interact complexly to regulate language development and processing (at the surface). In particular, it advocates a classification of disorders based on intermediate-level components, like brain oscillations. This fresh approach to the etiopathogenesis of developmental language disorders, which is more biologically motivated and more theoretically grounded, should allow identify robust endophenotypes of these conditions, that can be used as reliable hallmarks for an earlier and more accurate diagnosis. Las tipologías de los trastornos del lenguaje ligados al desarrollo se basan fundamentalmente en criterios sintomatológicos. No obstante, frecuentemente son incapaces de categorizar adecuadamente a los pacientes, fundamentalmente debido a la heterogeneidad y la diversidad típicas de los trastornos, y a la comorbilidad que se advierte entre ellos. Asimismo, dichas tipologías no contemplan como debieran la naturaleza de los factores etiológicos que explican cada trastorno. Estas circunstancias pueden condicionar negativamente el tratamiento de los afectados. En este artículo se defiende una caracterización de estos trastornos desde la óptica de la biología de sistemas, que busca discernir la manera en que los factores biológicos implicados interactúan de forma compleja para explicar el desarrollo y el procesamiento anómalos del lenguaje. En concreto, se defenderá una clasificación basada en componentes biológicos intermedios, en particular, las oscilaciones cerebrales, que se espera que constituyan además endofenotipos más fiables, que permitan diagnósticos más exactos y tempranos. Les typologies actuelles des troubles du langage développemental sont principalement basées sur des critères symptomatiques. Néanmoins, ils ni catégorisent ni caractérisent les patients sans ambiguïté, à cause des problèmes généralisés de comorbidité et d'hétérogénéité. Également, ils ne parviennent généralement pas à intégrer les facteurs étiologiques de manière précise. Ces restrictions devraient avoir un impact négatif sur les traitements du patients. Cet article préconise une approche dès la biologie des systèmes pour traiter les troubles du développement du langage, pour comprendre mieux la manière dont la myriade de facteurs biologiques impliqués (les inférierurs) interagissent de manière complexe pour réguler le développement et le traitement anormal du langage (les supérieurs). En particulier, il préconise une classification basée sur des composants de niveau intermédiaire, tels que les oscillations cérébrales. Cette nouvelle approche devrait permettre d'identifier des endophénotypes fiables de ces affections, qui puissent être utilisés pour un diagnostic plus précoce et plus précis.

Las cromosomopatías consisten en duplicaciones o deleciones de fragmentos cromosómicos que suelen conllevar alteraciones del lenguaje. Debido a su baja prevalencia, no se dispone aún de descripciones precisas del déficit lingüístico que llevan asociado ni de caracterizaciones funcionales del lenguaje de los afectados. En este trabajo proponemos una metodología pragmático-funcional para la valoración del déficit lingüístico en niños con cromosomopatías de baja prevalencia, que vincula las alteraciones detectadas en los componentes estructurales del lenguaje con las disfunciones comunicativas que generan. Discutimos la problemática que plantea la transcripción y codificación de la muestra con las herramientas del proyecto CHILDES y su etiquetado con PREP-CORP, ejemplificando nuestras reflexiones con datos del corpus CHROMOLANG. Concluimos que el análisis pragmático de muestras de lenguaje oral no elicitado complementa la evaluación mediante pruebas estandarizadas, contribuye al diagnóstico y permite orientar la intervención logopédica hacia el éxito comunicativo., Chromosomopathies consist of duplications or deletions of chromosomal fragments that usually produce language impairment. However, accurate descriptions of structural and functional linguistic deficits caused by chromosomopaties are not yet available due to the low prevalence of these alterations. Our aim in this paper is to put forward a pragmatic methodology in order to assess linguistic impairment in children with low prevalence chromosomopathies. This method links structural linguistic deficits together with the pragmatic dysfunctions they cause in communication. We discuss the transcription and coding of the data with the CHILDES tools and its labeling with PREP-CORP, and we illustrate our reflections with examples from the CHROMOLANG corpus. We conclude that the pragmatic analysis of natural oral language data complements the traditional assessment through standardized tests, contributes to diagnosis, and allows speech-language clinicians to focus on strategies to achieve communication success during the intervention., Les anomalies chromosomiques consistent en des duplications ou des délétions de fragments chromosomiques impliquant généralement des altérations du langage. En raison de sa faible prévalence, il n’existe toujours pas une description précise du déficit linguistique des individus affectés ni de caractérisation fonctionnelle de leur langage. Dans cet article, nous proposons une méthodologie pragmatique et fonctionnelle pour l’évaluation du déficit linguistique chez les enfants atteints d’anomalies chromosomiques à faible prévalence, qui relie les altérations détectées dans les composants structurels du langage avec les dysfonctionnements de la communication. Nous discutons les problèmes posés par la transcription et le codage de l'échantillon avec les outils du projet CHILDES et son étiquetage avec PREP-CORP, illustrant nos réflexions avec les données du corpus CHROMOLANG. Nous concluons que l'analyse pragmatique d'échantillons de langage oral naturel complète l'évaluation au moyen de tests standardisés, contribue au diagnostic et permet d'orienter l'intervention en orthophonie vers le succès de la communication.

El presente trabajo aborda el estudio lingüístico de un tipo de cromosomopatía, concretamente, la microduplicación en el cromosoma 1.21q1 (estudio de un caso). Este tipo de alteraciones genéticas es de baja prevalencia, por lo que se desconoce mucho acerca de sus características, y más aún, sobre su influencia en el lenguaje, habilidades comunicativas y aprendizaje. Este estudio se centra en el componente fonético-fonológico. Para llevar a cabo el estudio de este nivel, hemos utilizado una serie de tests y pruebas estandarizadas (Clinical Evaluation of Language Fundamentals (CELF); Test de Evaluación Fonológica de Laura Bosch; Registro Fonológico Inducido; Prueba de diptongos y triptongos) y muestras de habla espontánea recogidas; a través del análisis de los datos obtenidos en las pruebas, estudiaremos las alteraciones fonético-fonológicas en las producciones orales, determinando la presencia de problemas articulatorios. Finalmente, analizaremos la estructura y características de dichas producciones alteradas, destacando su influencia en la capacidad comunicativa., This paper deals with the linguistic study of a type of Chromosomopathy, specifically, microduplication in chromosome 1.21q1 (study of a case). This type of genetic alterations is of low prevalence, so much is unknown about their characteristics, and even more, about their influence on language, communication skills and learning. This study draws attention to the phoneticphonological component. In order to study this level, we have made use of a series of examinations and standardized tests, for instance: Clinical Evaluation of Language Fundamentals (CELF), Phonological Assessment Test of Laura Bosch, Induced Phonological Record, Diphthong and Triphthong Test) and spontaneous speech samples. Throughout the analysis of the data obtained in the tests, we will study the phonological alterations in oral productions, determining the presence or absence of articulatory problems. Finally, we will analyse the structures and characteristics of these altered productions, highlighting their influence on the linguistic-communicative capacity of the studied patient., Le travail se base sur l’étude linguistique d’un type de chromosomopathie, en particulier la microduplication dans le chromosome 1.21q1 (étude de cas). Ce type de modification génétique ayant une faible prévalence, on ignore ses caractéristiques, et par conséquent son influence sur le langage, les compétences de communication et l'apprentissage. Cette étude porte sur la composante phonétique-phonologique. Pour étudier ce niveau, nous avons utilisé une série de tests et de tests standardisés (CELF), le test d’évaluation phonologique de Laura Bosch, le registre phonologique induit, des tests de diphtongues et de triphtongues, et des échantillons de mot spontanés. A travers l'analyse des données obtenues lors des tests, nous étudierons les altérations phonologiques dans les productions orales, en déterminant la présence ou l'absence de problèmes articulatoires. Enfin, nous analysons les caractéristiques des productions altérées, en les comparant avec celles d’un individu du même stade, en soulignant son influence sur la capacité de communication linguistique.

Supplemental material, Supplemental_file_2 for Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood by Amy Niego and Antonio Benítez-Burraco in Autism

MapNet 2019, 18-19 November 2019, Wellington, New Zealand, Human evolution is characterized by the acquisition of features found in domesticated animals referred to as the self-domestication hypothesis. Features of self-domestication appear altered in people with cognitive diseases, including autism spectrum disorders, schizophrenia and Williams syndrome. The genetic basis of self-domestication has been revealed by non-random associations of animal domestication candidate genes with genes positively selected in recent humans and involved in cognitive disorders. Epigenetic modifications may have also participated in human self-domestication. However, their role is difficult to disentangle unless using animal models because epigenetics have a partly genetic basis and epigenetic patterns are tissue-specific, while only fossil bones are available. Here, we used our published dataset on the early domestication effects on DNA methylation of European sea bass (Dicentrarchus labrax). We mapped 2114 genes related to mammalian domestication to their orthologues in sea bass. We overlapped these with genes differentially methylated between wild and domesticated fish (n = 3, 4 tissues). A set of ~90 orthologues exhibited changes at the early domestication stages in fish. Moreover, we found overlaps with genes selected in anatomically-modern humans and with candidates for human-specific cognitive disorders. Thus, alterations of their methylation status may account in part for some of the human self-domestication phenotypes, and because of the links between self-domestication and cognitive disorders, also for aspects of the etiology of these disorders. Our results suggest that epigenetic modifications can be a general feature involved in vertebrate domestication, and highlight the need to catalogue methylation differences to gain insights into human evolution

We explore the potential that brain oscillations have for improving our understanding of how language develops, is processed in the brain, and initially evolved in our species. The different synchronization patterns of brain rhythms can account for different perceptual and cognitive functions, and we argue that this includes language. We aim to address six distinct questions-the What, How, Where, Who, Why, and When questions-pertaining to oscillatory investigations of language. Language deficits found in clinical conditions like autism, schizophrenia and dyslexia can be satisfactorily construed in terms of an abnormal, disorder-specific pattern of brain rhythmicity. Lastly, an eco-evo-devo approach to language is defended with explicit reference to brain oscillations, embracing a framework that considers language evolution to be the result of a changing environment surrounding developmental paths of the primate brain.

Current clinical typologies of language disorders are mostly based on symptomatic criteria. Nonetheless, they often fail to categorize and characterize patients unambiguously, essentially because of the widespread problems of comorbidity and heterogeneity. Likewise, they usually fail to incorporate etiological factors in a distinctive way, particularly, what we have learnt in the last decades about the genetic causes of neurodevelopmental conditions. Ultimately, these shortcomings are expected to impact negatively on therapies and the recovery of patient’s abilities. This paper argues in favour of a systems biology approach to language disorders, which pays attention to the way in which the myriad of the biological factors involved (at the bottom) interact complexly to regulate language development and processing (at the surface). In particular, it argues for a classification of disorders based on intermediate-level components, like brain oscillations. This fresh approach to the etiopathogenesis of language disorders, which is more biologically motivated and more theoretically grounded, should allow identify robust endophenotypes of language disorders that can be used as reliable hallmarks for an earlier and more accurate diagnosis.

Table S1. Oligonucleotide and sgRNA sequences used in this study. (DOCX 15 kb)

Language has been argued to arise, both ontogenetically and phylogenetically, from specific patterns of brain wiring. We argue that it can further be shown that core features of language processing emerge from particular phasal and cross-frequency coupling properties of neural oscillations; what has been referred to as the language 'oscillome.' It is expected that basic aspects of the language oscillome result from genetic guidance, what we will here call the language 'oscillogenome,' for which we will put forward a list of candidate genes. We have considered genes for altered brain rhythmicity in conditions involving language deficits: autism spectrum disorders, schizophrenia, specific language impairment and dyslexia. These selected genes map on to aspects of brain function, particularly on to neurotransmitter function. We stress that caution should be adopted in the construction of any oscillogenome, given the range of potential roles particular localized frequency bands have in cognition. Our aim is to propose a set of genome-to-language linking hypotheses that, given testing, would grant explanatory power to brain rhythms with respect to language processing and evolution. Economic and Social Research Council scholarship 1474910 Ministerio de Economía y Competitividad (España) FFI2016-78034-C2-2-P