The genetic landscape of autism spectrum disorders

Dev Med Child Neurol. 2014 Jan;56(1):12-8. doi: 10.1111/dmcn.12278. Epub 2013 Oct 1.

Abstract

Autism spectrum disorders (ASDs) 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Child
  • Child Development Disorders, Pervasive / diagnosis
  • Child Development Disorders, Pervasive / genetics*
  • Child Development Disorders, Pervasive / psychology*
  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Disorders / complications
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 22 / genetics
  • Comparative Genomic Hybridization
  • DNA Copy Number Variations / genetics
  • Fragile X Syndrome / complications
  • Fragile X Syndrome / genetics
  • Gene Deletion*
  • Gene Duplication*
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Intellectual Disability / psychology
  • Methyl-CpG-Binding Protein 2 / genetics
  • Muscular Dystrophy, Duchenne / complications
  • Nerve Tissue Proteins / genetics
  • PTEN Phosphohydrolase / genetics
  • Severity of Illness Index
  • Tuberous Sclerosis / complications
  • Tuberous Sclerosis / genetics
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics

Substances

  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • Nerve Tissue Proteins
  • SHANK3 protein, human
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins
  • PTEN Phosphohydrolase
  • PTEN protein, human

Supplementary concepts

  • Telomeric 22q13 Monosomy Syndrome