Autism Spectrum Disorders: From genotypes to phenotypes

This Research Topic covers the pathogenetic processes in Autism Spectrum Disorder (ASD) that underpin the translation of genetic vulnerability to clinically significant symptoms. Available research data in ASD suggests that it is a neural connectivity disorder and that the social communication and r...

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Main Author: Valsamma Eapen (auth)
Other Authors: Charles Claudianos (auth), Rudi Crncec (auth), Andrew J. Whitehouse (auth)
Format: Book Chapter
Published: Frontiers Media SA 2015
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Online Access:Get Fullteks
DOAB: description of the publication
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100 1 |a Valsamma Eapen  |4 auth 
700 1 |a Charles Claudianos  |4 auth 
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700 1 |a Andrew J. Whitehouse  |4 auth 
245 1 0 |a Autism Spectrum Disorders: From genotypes to phenotypes 
260 |b Frontiers Media SA  |c 2015 
300 |a 1 electronic resource (93 p.) 
506 0 |a Open Access  |2 star  |f Unrestricted online access 
520 |a This Research Topic covers the pathogenetic processes in Autism Spectrum Disorder (ASD) that underpin the translation of genetic vulnerability to clinically significant symptoms. Available research data in ASD suggests that it is a neural connectivity disorder and that the social communication and related neurobehavioural symptoms result from reduced synchronization between key _social brain_ regions. These interconnected neural systems can be understood through the relationship between functionally relevant anatomic areas and neurochemical pathways, the programming of which are genetically modulated during neurodevelopment and mediated through a range of epigenetic and environmental modulators. Elucidating the underlying molecular mechanisms can provide an invaluable window for understanding the neural wiring that regulates higher brain functions and consequent clinical phenotypes. In keeping with the multi modal and diverse origins of ASD, this Research Topic explores the genetic underpinnings and environmental modulation in the aetiology; neural substrates, biomarkers and endophenotypes that underlie clinical characteristics; as well as neurochemical pathways and pathophysiological mechanisms that pave the way for therapeutic interventions. Furthermore, since genetically mediated deficits and consequent functional impairments involve activity-dependent synapse development that depends on postnatal learning and experience, the trajectory towards the final clinical expression could be modulated by early interventions that exploit the neuronal maturation and brain plasticity. However, identifying these diverse pathogenetic processes and tailoring interventions would require subtyping ASD into homogeneous subgroups. In this regard, this topic covers the current state of evidence in the literature through topic reviews as well as ongoing original work that provides tangible hypotheses and directions for future research. 
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546 |a English 
653 |a Neuroimaging 
653 |a phenotypes 
653 |a neurodevelopment 
653 |a Early Intervention 
653 |a immune response 
653 |a genotypes 
653 |a Autism Spectrum Disorder 
653 |a Genetic Heterogeneity 
653 |a brain plasticity 
653 |a subtypes 
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