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Purpose: Chromosome 16p11.2 deletion syndrome (OMIM #611913) is a rare genetic condition resulting from the partial deletion of approximately 35 genes located at Chromosome 16. Affected people exhibit a variable clinical profile, featuring mild dysmorphisms, motor problems, developmental delay, mild intellectual disability (ID), socialization deficits and/or autism spectrum disorder (ASD) traits, and problems with language. Specifically, a precise characterization of the speech, language, and communication (dis)abilities of people with this condition is still pending. Method: We used standardized tests and samples of naturalistic speech to provide a longitudinal profile of the speech, language, and communication problems of a boy with Chromosome 16p11.2 deletion syndrome and without ID or ASD. Results: The proband shows impaired expressive abilities as well as problems with receptive language, dysprosody, and ASD-like communication deficits, such as impaired interactive skills, perseverative verbal behavior, overabundance of tangential responses, and lack of metapragmatic awareness and communicative use of gaze, meeting the criteria for social pragmatic communication disorder. Conclusions: Our results support the view that language and communication impairment should be regarded as one core symptom of Chromosome 16p11.2 deletion syndrome, even without a diagnosis of ASD or ID. Clinical implications of our results, with a focus on therapeutic interventions for children with 16p11.2 deletion syndrome and no ASD or ID, are also discussed.

Autism Spectrum Disorders (ASD) and Williams Syndrome (WS) are frequently characterized as mirror conditions in the socio-cognitive domain, with ASD entailing restrictive social interests and with WS exhibiting hypersociability. In this review paper, we examine in detail the strong points and deficits of people with ASD or WS in the socio-cognitive domain and show that both conditions also share some common features. Moreover, we explore the neurobiological basis of the social profile of ASD and WS and found a similar mixture of common affected areas and condition-specific impaired regions. We discuss these findings under the hypothesis of a continuum of the socio-cognitive abilities in humans.

Autism spectrum disorders and Williams syndrome exhibit quite opposite features in the social domain, but also share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of subjects with these two conditions. We found a significant overlap between differentially expressed genes compared to neurotypical controls, with most of them exhibiting a similar trend in both conditions, but with genes being more dysregulated in Williams syndrome than in autism spectrum disorders. These genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis.

There is a research programme in linguistics that is founded on describing language as an emergent phenomenon. This paper clarifies how the core concept of emergence is deployed in this emergentist programme. We show that if one adopts the weak understandings of the concept of language emergence, the emergentist programme is not fundamentally different from the other non‐emergentist research programmes in linguistics. On the other hand, if one adopts the stronger understandings of emergence then the programme would have a unique character, but at the cost of some corollaries (philosophical, but not only) which the emergentist linguists would seemingly want to avoid. We show that if the emergentists accept those corollaries, the resulting hypothetical emergentist programme would be totally different from the emergentist programme in its present shape. We conclude that the emergentist programme, as it stands, should be either abandoned or reshaped in both theory and methodology. [ABSTRACT FROM AUTHOR]

Sociolinguistic typology studies have uncovered diverse social, cultural, and political factors that might account for aspects of the structural complexity of the world’s languages. Accordingly, the languages spoken by close-knit (or esoteric) societies tend to feature more complex phonologies and morphologies, as well as increased semantic opacity. By contrast, the languages spoken by open (or exoteric) societies usually exhibit more syntactic complexity together with greater semantic compositionality. In this paper, we support the view that classical (i.e. variationist) sociolinguistics would benefit from applying this typological approach to the study of intralinguistic variation. Specifically, we argue for relying on the concepts of esotericity and exotericity for achieving a better characterization and understanding of Spanish familects (i.e. the private language varieties used within families). We advance a specific protocol for studying this linguistic variety, as well as a tentative list of features characterizing Spanish familects, which we have posited under the view that familects are esoteric varieties of the standard language, although with some distinctive features compared to the oral vernacular, particularly to informal speech. [ABSTRACT FROM AUTHOR]

Copy number variants (CNVs) found in individuals with communication deficits provide a valuable window to the genetic causes of problems with language and, more generally, to the genetic foundation of the human-specific ability to learn and use languages. This paper reports on the language and communication problems of a patient with a microduplication in 22q11.23 and a microdeletion in 7q31.1-q1.33 encompassing FOXP2. The proband exhibits severe speech problems and moderate comprehension deficits, whereas her pragmatic abilities are a relative strength, as she uses gestures quite competently to compensate for her expressive issues. This profile is compatible with the deficiencies found in patients with similar CNVs, particularly with people bearing microdeletions in 7q31.1-q31.33. [ABSTRACT FROM AUTHOR]