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Review
Links between genetics and pathophysiology in the autism spectrum disorders
Article first published online: 1 AUG 2011
DOI: 10.1002/emmm.201100157
Copyright © 2011 EMBO Molecular Medicine
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Additional Information
How to Cite
Holt, R. and Monaco, A. P. (2011), Links between genetics and pathophysiology in the autism spectrum disorders. EMBO Mol Med, 3: 438–450. doi: 10.1002/emmm.201100157
Publication History
- Issue published online: 1 AUG 2011
- Article first published online: 1 AUG 2011
- Manuscript Accepted: 20 JUN 2011
- Manuscript Revised: 6 JUN 2011
- Manuscript Received: 5 MAY 2011
Funded by
- Autistica
- Medical Research Council (UK)
- Wellcome Trust. Grant Number: 075491/Z/04
- Abstract
- Article
- References
- Cited By
Keywords:
- autism;
- copy number variants;
- genetics;
- pathophysiology;
- underconnectivity
Abstract
Autism spectrum disorders (ASD) are important neuropsychiatric disorders, currently estimated to affect approximately 1% of children, with considerable emotional and financial costs. Significant collaborative effort has been made over the last 15 years in an attempt to unravel the genetic mechanisms underlying these conditions. This has led to important discoveries, both of the roles of specific genes, as well as larger scale chromosomal copy number changes. Here, we summarize some of the latest genetic findings in the field of ASD and attempt to link them with the results of pathophysiological studies to provide an overall picture of at least one of the mechanisms by which ASD may develop.