Genetic and Phenotypic Subtypes of Autism Spectrum Disorder

Dear Colleagues,

Autism Spectrum Disorder (ASD) is a heterogeneous spectrum, both clinically and etiologically, making it a prime candidate for ‘precision medicine’ based on understanding of cause, rather than behaviours alone. The diagnosis of ASD does not imply etiology, but rather a complex constellation of behavioural and developmental symptoms of a group of conditions comprising discrete genetic, metabolic, congenital, and environmental causes.  For complex genetic disorders, such as ASDs, it is important to identify biological markers that distinguish subtypes. For some disorders, this could be a phenotypic trait that is specific to one subgroup of individuals with the condition; for others, it could be a genomic, biochemical or chromosomal difference.  With current genomics technologies, it is possible to capture a molecular profile of individuals with ASD through their DNA, gut and organ microbes, metabolomic by-products, and the physical and developmental outcomes caused by the interaction of these factors with the environment.

In this Special Issue we welcome contributions that integrate standardized metrics for subgrouping the ASD phenome (the sum of all phenotypic traits) with its genomic underpinnings. It is the aim of this issue to provide a deeper understanding of genetic and phenotypic subtypes of ASD that can serve as etiologically valid biomarkers for incisive molecular analyses of genes, and gene pathways, which underlie susceptibility to autism and its pathogenesis, that may ultimately enable early diagnosis and more precise, effective treatments.

Dr. M. E. Suzanne Lewis
Guest Editor

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