What is the role of gamma-amino butyric acid (GABA) in the pathophysiology of autism spectrum disorder (ASD)?

Updated: Sep 30, 2019
  • Author: James Robert Brasic, MD, MPH; Chief Editor: Caroly Pataki, MD  more...
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Answer

Increased risk of developmental delay and ASD is associated with prematurity. Reductions in cerebral GABA likely contribute to the sensorimotor and behavioral anomalies of individuals with ASD. [36, 37, 38] Reductions in sensorimotor GABA were observed by magnetic resonance spectroscopy (MRS) in participants with ASD in contrast to matched controls without ASD. [36, 37] Behavioral measures of inhibition correlated with the reductions in sensorimotor GABA concentrations. [36, 37] By contrast, GABA concentrations were similar in a different cohort of boys with ASD and typical boys. [36, 39] In the boys with ASD the ratio of GABA/creatine on MRS was associated with symptoms of ASD. [36, 40]

Postmortem specimens of the brains of people with autism demonstrated reductions for gamma-aminobutyric acid–B (GABAB) receptors in the cingulate cortex, a key region for the evaluation of social relationships, emotions, and cognition, and in the fusiform gyrus, a crucial region to evaluate faces and facial expressions. [41] These findings provide the basis for further investigation of autism and other pervasive developmental disorders.


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