Abstract

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders characterized by impaired social communication, abnormal language development, restricted interests, and repetitive and stereotyped behaviors (Zoghbi and Bear, 2012; Ebert and Greenberg, 2013; Lai et al., 2014). These disorders show a high degree of clinical and genetic heterogeneity. Studies suggest that there is the functional convergence among autism-linked genes on common pathways that are involved in synaptic development, plasticity and signaling, raising the hope that similar therapeutic strategy may be effective for different forms of autistic disorders (Krumm et al., 2014; Ronemus et al., 2014). Investigation of cellular and synaptic deficits in ASDs will provide further insights into the pathogenesis of autism and may eventually lead to potential treatment for autism and other neurodevelopmental disorders (Zoghbi and Bear, 2012; Delorme et al., 2013; Ebert and Greenberg, 2013). Our research topic entitled Neural and Synaptic Defects in Autism Spectrum Disorders, brings together 23 articles which document the recent development and ideas in the study of molecular/cellular mechanisms and treatment of ASDs, with an emphasis on syndromic disorders such as fragile X and Rett syndromes. In addition, model systems and methodological approaches with translational relevance to autism are covered in this research topic.

Highlights

  • Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders characterized by impaired social communication, abnormal language development, restricted interests, and repetitive and stereotyped behaviors (Zoghbi and Bear, 2012; Ebert and Greenberg, 2013; Lai et al, 2014)

  • Abekhoukh and Bardoni review the potential roles of CYFIP1/2 in intellectual disability and autism, and their relation to fragile X syndrome (Abekhoukh and Bardoni, 2014)

  • Xu and Pozzo-Miller comment on a study which identified a novel AT-hook domain of MeCP2 that plays important roles in chromatin organization, providing a mechanism that determines the clinical course of Rett syndrome and related disorders (Baker et al, 2013; Xu and Pozzo-Miller, 2013)

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Summary

Introduction

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders characterized by impaired social communication, abnormal language development, restricted interests, and repetitive and stereotyped behaviors (Zoghbi and Bear, 2012; Ebert and Greenberg, 2013; Lai et al, 2014). Studies suggest that there is the functional convergence among autism-linked genes on common pathways that are involved in synaptic development, plasticity and signaling, raising the hope that similar therapeutic strategy may be effective for different forms of autistic disorders (Krumm et al, 2014; Ronemus et al, 2014).

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