Encyclopedia of Autism Spectrum Disorders

Living Edition
| Editors: Fred R. Volkmar

Acetylcholine: Definition

Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-6435-8_102053-1



Acetylcholine (ACh) is a neurotransmitter critical in an individual’s ability to assess their surroundings and respond accordingly. More specifically, ACh functions to evaluate the potential reward and/or threat in a certain stimuli or environmental change and act on it. With roles in regulating attention, cognitive flexibility, social interactions, and stereotypical behaviors, ACh has been heavily implicated in autism. ASD patients show unusually sized, numbered, and structured neurons in the acetylcholine output centers of the basal forebrain as well as decreased concentrations of choline, a precursor of ACh. Low levels of choline have also been correlated with autism severity. Postmortem studies reveal a reduction of ACh receptor and receptor subunits. At the genetic level, mutations and duplications in genes encoding various ACh receptor subunits have been found in ASD patients. Furthermore, mutagenesis, inhibition, and/or deletion of various...


Autism Spectrum Disorder Receptor Subunit Basal Forebrain Cognitive Flexibility Stereotypical Behavior 
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References and Reading

  1. Belmonte, M. K., Cook, E. H., Anderson, G. M., Rubenstein, J. L., Greenough, W. T., Beckel-Mitchener, A., … & Tierney, E. (2004). Autism as a disorder of neural information processing: Directions for research and targets for therapy. Molecular psychiatry, 9(7), 646–663.Google Scholar
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Authors and Affiliations

  1. 1.Autism Program, Child Study CenterYale School of MedicineNew HavenUSA
  2. 2.Program in Neurodevelopment and RegenerationYale School of MedicineNew HavenUSA