Autism Spectrum Disorder within Neurodevelopmental Disorders: Catching Heterogeneity, Specificity and Comorbidity in Clinical Phenotypes and Neurobiological Bases

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Background

Autism Spectrum disorder (ASD) refers to a group of complex neurodevelopmental disorders (NDDs) characterized by impaired social interaction and communication, and the presence of restricted and repetitive patterns of behaviors and interests. ASD is a prevalent and severe disorder presenting, alongside the varying manifestations of core symptoms, significant heterogeneity in terms of onset, developmental outcome, treatment-response and the presence of comorbidities including psychopathology. In addition to clinical level, heterogeneity is also evident across genetic and neurobiological underpinnings. Although hinted in pioneering descriptions and later argued, heterogeneity remains poorly defined. Therefore, to understand specific etiologies and help the development of individualized treatments, it is crucial to move away from the single entity towards addressing heterogeneity in ASD. In that regard, it is of utmost importance to keep in mind the concept of specificity to differentiate ASD from other NDDs and enlarge our knowledge on comorbidity as well.

The heterogeneity of ASD encompasses a wide range of analyses; genes, structure and function of specific brain regions and circuitry to concurrent clinical and behavioral presentation, differing developmental trajectories and treatment response. Promisingly, recent state-of-the-art neuroimaging and electrophysiological tools, combined with advanced person-centered analytical and computational approaches, will allow to start addressing heterogeneity from genetic and neural units to clinical units of analysis. Recent developments have also suggested the importance of going beyond DSM-5 defined categorical boundaries and attempting to identify clinically homogenous subgroups across individuals originally classified under distinct diagnostic categories. Indeed, high co-morbidity, within-category heterogeneity and across-category overlaps are by now well-recognized limitations of the current diagnostic systems, that have impacted our ability to deliver personalized treatments. Given diverse conceptual, methodological, and analytical approaches to heterogeneity in ASD, it is crucial to take a stock and provide comprehensive synthesis of both historical and current conceptual and empirical trends.
Thus, this Research Topic focusing on heterogeneity, specificity and “comorbidity” at the clinical and neurobiological level, will inform future research efforts and enable our field to start moving towards better understanding of the etiology and treatment of this clinically impactful disorder.

The goal of this Research Topic is to shed light on ASD, at clinical and neurobiological level, keeping in mind the frame of NDDs. This will be a multi-disciplinary effort, aiming to bring together contributions ranging from basic science to sophisticated latent variable modelling approaches targeting clarification of distinct aspect of clinical phenotype. We will aim to include both review and empirical papers to showcase the flagship research efforts seeking to improve definition and operationalization, measurement and analysis and clinical and treatment applications related to heterogeneity. Investigating and understanding these two different levels in terms of heterogeneity, specificity and comorbidity is of high clinical and translational importance.

We are looking for Reviews and Manuscripts addressing the following topics:
• Autism Heterogeneity and Autism Specificity in the field of neurodevelopmental disorders;
• Autistic comorbidities/overlapped neurodevelopmental phenotypes;
• Neurobiological underpinnings either in terms of related to connectivity studies or genetic/epigenetic studies;
• Advanced techniques to identify heterogeneity and specificity of findings ( e.g. machine learning approaches);
• General commentaries addressing the 3 main concepts (Heterogeneity, Specificity, Comorbidities) are also welcome.

Keywords: Autism spectrum disorders, Heterogeneity, Specificity, Comorbidity, Neurgiological Underpinnings

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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