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The genetic landscape of autism spectrum disorders
Author(s) -
Rosti Rasim O,
Sadek Abdelrahim A,
Vaux Keith K,
Gleeson Joseph G
Publication year - 2014
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.12278
Subject(s) - autism , exome sequencing , genetic counseling , heritability of autism , genetic architecture , comparative genomic hybridization , socialization , autistic spectrum , genetics , genetic heterogeneity , genome , computational biology , biology , autism spectrum disorder , psychology , mutation , developmental psychology , gene , phenotype
Autism spectrum disorders ( ASD s) are a group of heterogeneous neurodevelopmental disorders that show impaired communication and socialization, restricted interests, and stereotypical behavioral patterns. Recent advances in molecular medicine and high throughput screenings, such as array comparative genomic hybridization ( CGH ) and exome and whole genome sequencing, have revealed both novel insights and new questions about the nature of this spectrum of disorders. What has emerged is a better understanding about the genetic architecture of various genetic subtypes of ASD and correlations of genetic mutations with specific autism subtypes. Based on this new information, we outline a strategy for advancing diagnosis, prognosis, and counseling for patients and families.