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The Oscillopathic Nature of Language Deficits in Autism: From Genes to Language Evolution.

ABSTRACT: Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders involving a number of deficits to linguistic cognition. The gap between genetics and the pathophysiology of ASD remains open, in particular regarding its distinctive linguistic profile. The goal of this article is to attempt to bridge this gap, focusing on how the autistic brain processes language, particularly through the perspective of brain rhythms. Due to the phenomenon of pleiotropy, which may take some decades to overcome, we believe that studies of brain rhythms, which are not faced with problems of this scale, may constitute a more tractable route to interpreting language deficits in ASD and eventually other neurocognitive disorders. Building on recent attempts to link neural oscillations to certain computational primitives of language, we show that interpreting language deficits in ASD as oscillopathic traits is a potentially fruitful way to construct successful endophenotypes of this condition. Additionally, we will show that candidate genes for ASD are overrepresented among the genes that played a role in the evolution of language. These genes include (and are related to) genes involved in brain rhythmicity. We hope that the type of steps taken here will additionally lead to a better understanding of the comorbidity, heterogeneity, and variability of ASD, and may help achieve a better treatment of the affected populations.

SUBMITTER: Benitez-Burraco A

PROVIDER: S-EPMC4796018 | biostudies-other | 2016

REPOSITORIES: biostudies-other

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The Oscillopathic Nature of Language Deficits in Autism: From Genes to Language Evolution.

Benítez-Burraco Antonio A Murphy Elliot E

Frontiers in human neuroscience 20160318

Autism spectrum disorders (ASD) are pervasive neurodevelopmental disorders involving a number of deficits to linguistic cognition. The gap between genetics and the pathophysiology of ASD remains open, in particular regarding its distinctive linguistic profile. The goal of this article is to attempt to bridge this gap, focusing on how the autistic brain processes language, particularly through the perspective of brain rhythms. Due to the phenomenon of pleiotropy, which may take some decades to ov ...[more]

PMID: 27047363

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Project description:Language is one of the cognitive domains often impaired across many neurodevelopmental disorders. While for some disorders the linguistic deficit is the primary impairment (e.g., specific language impairment, SLI), for others it may accompany broader behavioral problems (e.g., autism). The precise nature of this phenotypic overlap has been the subject of debate. Moreover, several studies have found genetic overlaps across neurodevelopmental disorders. This raises the question of whether these genetic overlaps may correlate with phenotypic overlaps and, if so, in what manner. Here, we apply a genome-wide approach to the study of the linguistic deficit in SLI, autism spectrum disorder (ASD), and attention deficit/hyperactivity disorder (ADHD). Using a discovery genome-wide association study of SLI, we generate polygenic risk scores (PRS) in an independent sample which includes children with language impairment, SLI, ASD or ADHD and age-matched controls and perform regression analyses across groups. The SLI-trained PRS significantly predicted risk in the SLI case-control group (adjusted R2 = 6.24%; P = 0.024) but not in the ASD or ADHD case-control groups (adjusted R2 = 0.0004%, 0.01%; P = 0.984, 0.889, respectively) nor for height, used as a negative control (R2 = 0.2%; P = 0.452). Additionally, there was a significant difference in the normalized PRS between children with SLI and children with ASD (common language effect size = 0.66; P = 0.044). Our study suggests no additive common-variant genetic overlap between SLI and ASD and ADHD. This is discussed in the context of phenotypic studies of SLI and related disorders. Autism Res 2020, 13: 369-381. © 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: Language deficits are characteristic of specific language impairment (SLI), but may also be found in other neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Many studies examined the overlaps and differences across the language deficits in these disorders, but few studies have examined the genetic aspect thereof. In this study, we use a genome-wide approach to evaluate whether common genetic variants increasing risk of SLI may also be associated with ASD and ADHD in the same manner. Our results suggest that this is not the case, and we discuss this finding in the context of theories concerning the etiologies of these disorders.

Project description:The way that parents communicate with their typically developing infants is associated with later infant language development. Here we aim to show that these associations are observed in infants subsequently diagnosed with autism spectrum disorder (ASD). This study had three groups: high-familial-risk infants who did not have ASD (n = 46); high-familial-risk infants who had ASD (n = 14); and low-familial-risk infants who exhibited typical development (n = 36). All-day home language recordings were collected at 9 and 15?months, and language skills were assessed at 24?months. Across all infants in the study, including those with ASD, a richer home language environment (e.g., hearing more adult words and experiencing more conversational turns) at 9 and 15?months was associated with better language skills. Higher parental educational attainment was associated with a richer home language environment. Mediation analyses showed that the effect of education on child language skills was explained by the richness of the home language environment. Exploratory analyses revealed that typically developing infants experience an increase in caregiver-child conversational turns across 9-15?months, a pattern not seen in children with ASD. The current study shows that parent behavior during the earliest stages of life can have a significant impact on later development, highlighting the home language environment as means to support development in infants with ASD. Autism Res 2019, 12: 1784-1795. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: It has long been understood that caregiver speech supports language skills in typically developing infants. In this study, parents of infants who were later diagnosed with ASD and parents of infants in the control groups completed all-day home language recordings. We found that for all infants in our study, those who heard more caregiver speech had better language skills later in life. Parental education level was also related to how much caregiver speech an infant experienced.

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The Oscillopathic Nature of Language Deficits in Autism: From Genes to Language Evolution.

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The Oscillopathic Nature of Language Deficits in Autism: From Genes to Language Evolution.

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