GABA system dysfunction in autism and related disorders: from synapse to symptoms

Neurosci Biobehav Rev. 2012 Oct;36(9):2044-55. doi: 10.1016/j.neubiorev.2012.07.005. Epub 2012 Jul 25.

Abstract

Autism spectrum disorders (ASDs) are neurodevelopmental syndromes characterised by repetitive behaviours and restricted interests, impairments in social behaviour and relations, and in language and communication. These symptoms are also observed in a number of developmental disorders of known origin, including Fragile X Syndrome, Rett Syndrome, and Foetal Anticonvulsant Syndrome. While these conditions have diverse etiologies, and poorly understood pathologies, emerging evidence suggests that they may all be linked to dysfunction in particular aspects of GABAergic inhibitory signalling in the brain. We review evidence from genetics, molecular neurobiology and systems neuroscience relating to the role of GABA in these conditions. We conclude by discussing how these deficits may relate to the specific symptoms observed.

Publication types

  • Review

MeSH terms

  • Brain / metabolism
  • Brain / physiopathology*
  • Child
  • Child Development Disorders, Pervasive / metabolism
  • Child Development Disorders, Pervasive / physiopathology*
  • Fragile X Syndrome / metabolism
  • Fragile X Syndrome / physiopathology
  • GABAergic Neurons / physiology*
  • Humans
  • Neurons / physiology
  • Rett Syndrome / metabolism
  • Rett Syndrome / physiopathology
  • Synapses / metabolism*
  • gamma-Aminobutyric Acid / metabolism*

Substances

  • gamma-Aminobutyric Acid