scholarly journals Language impairments in ASD resulting from a failed domestication of the human brain

2016 ◽  
Author(s):  
Antonio Benítez-Burraco ◽  
Wanda Lattanzi ◽  
Elliot Murphy

AbstractAutism spectrum disorders (ASD) are pervasive neurodevelopmental disorders entailing social and cognitive deficits, including marked problems with language. Numerous genes have been associated with ASD, but it is unclear how language deficits arise from gene mutation or dysregulation. It is also unclear why ASD shows such high prevalence within human populations. Interestingly, the emergence of a modern faculty of language has been hypothesised to be linked to changes in the human brain/skull, but also to the process of self-domestication of the human species. It is our intention to show that people with ASD exhibit less marked domesticated traits at the morphological, physiological, and behavioural levels. We also discuss many ASD candidates represented among the genes known to be involved in the domestication syndrome (the constellation of traits exhibited by domesticated mammals, which seemingly results from the hypofunction of the neural crest) and among the set of genes involved in language function closely connected to them. Moreover, many of these genes show altered expression profiles in the brain of autists. In addition, some candidates for domestication and language-readiness show the same expression profile in people with ASD and chimps in different brain areas involved in language processing. Similarities regarding the brain oscillatory behaviour of these areas can be expected too. We conclude that ASD may represent an abnormal ontogenetic itinerary for the human faculty of language resulting in part from changes in genes important for the domestication syndrome and, ultimately, from the normal functioning of the neural crest.

2016 ◽  
Author(s):  
Antonio Benítez-Burraco ◽  
Lorena Di Pietro ◽  
Marta Barba ◽  
Wanda Lattanzi

AbstractSchizophrenia (SZ) is a pervasive neurodevelopmental disorder entailing social and cognitive deficits, including marked problems with language. Its complex multifactorial etiopathogenesis, including genetic and environmental factors, is still widely uncertain. SZ incidence has always been high and quite stable in human populations, across time and regardless of cultural implications, due to unclear reasons. It has been hypothesised that SZ pathophysiology may involve the biological components that changed during the recent human evolutionary history and led to our distinctive mode of cognition, which includes language skills. In this paper we explore this possibility, focusing on the self-domestication of the human species. This has been claimed to account for many human-specific distinctive traits, including aspects of our behaviour and cognition, and to favour the emergence of complex languages through cultural evolution. The “domestication syndrome” in mammals comprises the constellation of traits exhibited by domesticated strains, seemingly resulting from the hypofunction of the neural crest. It is our intention to show that people with SZ exhibit more marked domesticated traits at the morphological, physiological, and behavioural levels. We also show that genes involved in domestication and neural crest development and function comprise nearly 20% SZ candidates, most of which exhibit altered expression profiles in the brain of SZ patients, specifically in areas involved in language processing. Based on these observations, we conclude that SZ may represent an abnormal ontogenetic itinerary for the human faculty of language, resulting, at least in part, from changes in genes important for the “domestication syndrome” and, primarily involving the neural crest.


2017 ◽  
Vol 89 (3) ◽  
pp. 162-184 ◽  
Author(s):  
Antonio Benítez-Burraco ◽  
Lorena Di Pietro ◽  
Marta Barba ◽  
Wanda Lattanzi

Schizophrenia (SZ) is a pervasive neurodevelopmental disorder that entails social and cognitive deficits, including marked language problems. Its complex multifactorial etiopathogenesis, including genetic and environmental factors, is still widely uncertain. SZ incidence has always been high and quite stable in human populations, across time and regardless of cultural implications, for unclear reasons. It has been hypothesized that SZ pathophysiology may involve the biological components that changed during the recent human evolutionary history, and led to our distinctive mode of cognition, which includes language skills. In this paper we explore this hypothesis, focusing on the self-domestication of the human species. This has been claimed to account for many human-specific distinctive traits, including aspects of our behavior and cognition, and to favor the emergence of complex languages through cultural evolution. The “domestication syndrome” in mammals comprises the constellation of traits exhibited by domesticated strains, seemingly resulting from the hypofunction of the neural crest. It is our intention to show that people with SZ exhibit more marked domesticated traits at the morphological, physiological, and behavioral levels. We also show that genes involved in domestication and neural crest development and function comprise nearly 20% of SZ candidates, most of which exhibit altered expression profiles in the brain of SZ patients, specifically in areas involved in language processing. Based on these observations, we conclude that SZ may represent an abnormal ontogenetic itinerary for the human faculty of language, resulting, at least in part, from changes in genes important for the domestication syndrome and primarily involving the neural crest.


2020 ◽  
Author(s):  
Thomas L. Botch ◽  
Alina Spiegel ◽  
Catherine Ricciardi ◽  
Caroline E. Robertson

AbstractBumetanide has received much interest as a potential pharmacological modulator of the putative imbalance in excitatory/inhibitory (E/I) signaling that is thought to characterize autism spectrum conditions. Yet, currently, no studies of bumetanide efficacy have used an outcome measure that is modeled to depend on E/I balance in the brain. In this manuscript, we present the first causal study of the effect of bumetanide on an objective marker of E/I balance in the brain, binocular rivalry, which we have previously shown to be sensitive to pharmacological manipulation of GABA. Using a within-subjects placebo-control crossover design study, we show that, contrary to expectation, acute administration of bumetanide does not alter binocular rivalry dynamics in neurotypical adult individuals. Neither changes in response times nor response criteria can account for these results. These results raise important questions about the efficacy of acute bumetanide administration for altering E/I balance in the human brain, and highlight the importance of studies using objective markers of the underlying neural processes that drugs hope to target.


2020 ◽  
Author(s):  
Sreejan Kumar ◽  
Cameron T. Ellis ◽  
Thomas O’Connell ◽  
Marvin M Chun ◽  
Nicholas B. Turk-Browne

AbstractThe extent to which brain functions are localized or distributed is a foundational question in neuroscience. In the human brain, common fMRI methods such as cluster correction, atlas parcellation, and anatomical searchlight are biased by design toward finding localized representations. Here we introduce the functional searchlight approach as an alternative to anatomical searchlight analysis, the most commonly used exploratory multivariate fMRI technique. Functional searchlight removes any anatomical bias by grouping voxels based only on functional similarity and ignoring anatomical proximity. We report evidence that visual and auditory features from deep neural networks and semantic features from a natural language processing model are more widely distributed across the brain than previously acknowledged. This approach provides a new way to evaluate and constrain computational models with brain activity and pushes our understanding of human brain function further along the spectrum from strict modularity toward distributed representation.


Author(s):  
Marta Kutas ◽  
Kara D. Federmeier

The intact human brain is the only known system that can interpret and respond to various visual and acoustic patterns. Therefore, unlike researchers of other cognitive phenomena, (neuro)psycholinguists cannot avail themselves of invasive techniques in non-human animals to uncover the responsible mechanisms in the large parts of the (human) brain that have been implicated in language processing. Engagement of these different anatomical areas does, however, generate distinct patterns of biological activity (such as ion flow across neural membranes) that can be recorded inside and outside the heads of humans as they quickly, often seamlessly, and without much conscious reflection on the computations and linguistic regularities involved, understand spoken, written, or signed sentences. This article summarizes studies of event-related brain potentials and sentence processing. It discusses electrophysiology, language and the brain, processing language meaning, context effects in meaning processing, non-literal language processing, processing language form, parsing, slow potentials and the closure positive shift, and plasticity and learning.


2014 ◽  
pp. 154-161 ◽  
Author(s):  
Julio Cesar Montoya ◽  
Dianora Fajardo ◽  
Ángela Peña ◽  
Adalberto Sánchez ◽  
Martha C Domínguez ◽  
...  

Background: The information of gene expression obtained from databases, have made possible the extraction and analysis of data related with several molecular processes involving not only in brain homeostasis but its disruption in some neuropathologies; principally in Down syndrome and the Alzheimer disease. Objective: To correlate the levels of transcription of 19 genes located in the Down Syndrome Critical Region (DSCR) with their expression in several substructures of normal human brain. Methods: There were obtained expression profiles of 19 DSCR genes in 42 brain substructures, from gene expression values available at the database of the human brain of the Brain Atlas of the Allen Institute for Brain Sciences", (http://human.brain-map.org/). The co-expression patterns of DSCR genes in brain were calculated by using multivariate statistical methods. Results: Highest levels of gene expression were registered at caudate nucleus, nucleus accumbens and putamen among central areas of cerebral cortex. Increased expression levels of RCAN1 that encode by a protein involved in signal transduction process of the CNS were recorded for PCP4 that participates in the binding to calmodulin and TTC3; a protein that is associated with differentiation of neurons. That previously idenjpgied brain structures play a crucial role in the learning process, in different class of memory and in motor skills. Conclusion: The precise regulation of DSCR gene expression is crucial to maintain the brain homeostasis, especially in those areas with high levels of gene expression associated with a remarkable process of learning and cognition.


Author(s):  
Angela D. Friederici ◽  
Noam Chomsky

The language faculty is grounded in the human brain and allows any infant to learn any language. In her book, Angela D. Friederici offers a neurobiological theory of human language by integrating data from adult language processing, language development and brain evolution across primates. Describing the brain basis of language in its functional and structural neuroanatomy as well as its neurodynamics, she argues that differences in the brain that are species-specific may be at the root of human language.


2021 ◽  
Author(s):  
Chris Gunter ◽  
Cynthia B Sinha ◽  
David Jaquess

AbstractAs a high prevalence disorder with limited information about etiology, autism spectrum disorder (ASD) has been marked by confusion and miscommunication around its causes and treatments. To promote high-quality science communication, we participated in a local science festival, both providing information about the brain and ASD and asking passersby questions about their knowledge of ASD. We then asked the booth staffers to evaluate the program and conducted qualitative analyses of public and staffer responses. Public responses to the question “what would you like to know about autism?” most often concerned how the disorder was diagnosed or defined. In contrast, public responses to the question “what would you like others to know about autism?” centered around educating those unaffected by ASD on how to improve interactions and awareness, mentioning inclusivity and intersectionality, and dispelling negative stereotypes. The staffers overwhelmingly reported that in future years, they would include even more science and allow for more in-depth conversations with interested parties, as well as bringing materials in other languages. These responses are in keeping with a trend for more inclusive science communication, particularly in the field of behavioral health and ASD, and a desire to challenge myths around the condition. We conclude that our science festival interactions brought multiple benefits to public and staff.


2016 ◽  
Author(s):  
Elliot Murphy ◽  
Antonio Benitez-Burraco

Schizophrenia (SZ) and autism spectrum disorders (ASD) are characterised by marked language deficits, but it is not clear how these arise from gene mutations associated with the disorders. Our goal is to narrow the gap between SZ and ASD and, ultimately, give support to the view that they represent abnormal (but related) ontogenetic itineraries for the human faculty of language. We will focus on the distinctive oscillatory profiles of the SZ and ASD brains, in turn using these insights to refine our understanding of how the brain computes language by exploring a novel model of linguistic feature-set composition. We will argue that brain rhythms constitute the best route to interpreting language deficits in both conditions and mapping them to neural dysfunction and risk alleles of the genes. Importantly, candidate genes for SZ and ASD are overrepresented among the gene sets believed to be important for language evolution. This translational effort may help develop an understanding of the aetiology of SZ and ASD and their high prevalence among modern populations.


2020 ◽  
Author(s):  
Jeannine A. Frei ◽  
Robert F. Niescier ◽  
Morgan S. Bridi ◽  
Madel Durens ◽  
Jonathan E. Nestor ◽  
...  

AbstractAutism spectrum disorder (ASD) is a neurological condition characterized by difficulties in social interaction, communication, and behavior. The classical type II cadherins cadherin-8 (Cdh8, CDH8) and cadherin-11 (Cdh11, CDH11) have been implicated as autism risk gene candidates. To explore the role of cadherins in the etiology of autism, we investigated their expression patterns during mouse brain development and analyzed their functions using Cdh11 knockout mice. Expression of cadherin-8 and cadherin-11 was developmentally regulated and enriched in cortex, hippocampus, and thalamus/striatum during the peak of dendrite formation and synaptogenesis. Cadherin-8 preferentially localized to excitatory synapses where it interacted with neuroligin-1. Levels of cadherin-8, neuroligin-1, and PSD-95 were all significantly increased in Cdh11 knockout brains. Additionally, Cdh11-/- hippocampal neurons exhibited increased dendritic complexity along with altered neuronal and synaptic activity. Similar to the expression profiles in Cdh11 knockout mice, induced pluripotent stem cell (iPSC)-derived cortical neural precursor cells (NPCs) and cortical organoids generated from individuals with autism showed elevated CDH8 expression levels while CDH11 expression levels were decreased. Together, these results strongly suggest that cadherin-8 and cadherin-11 are involved in regulating the development of neuronal circuitry and that alterations in the expression levels of cadherin-8 and cadherin-11 may contribute to the etiology of autism.


Sign in / Sign up

Export Citation Format

Share Document