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Open Access Short report

Failure to deactivate the default mode network indicates a possible endophenotype of autism

Michael D Spencer1*, Lindsay R Chura1, Rosemary J Holt1, John Suckling2, Andrew J Calder3, Edward T Bullmore2 and Simon Baron-Cohen1

Author Affiliations

1 Department of Psychiatry, Autism Research Centre, University of Cambridge, Douglas House, 18b Trumpington Road, Cambridge, CB2 8AH, UK

2 Department of Psychiatry, Herchel Smith Building for Brain and Mind Sciences, Cambridge Biomedical Campus, University of Cambridge, Cambridge, CB2 0SZ, UK

3 MRC Cognition and Brain Sciences Unit, 15 Chaucer Road, Cambridge, CB2 7EF, UK

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Molecular Autism 2012, 3:15  doi:10.1186/2040-2392-3-15

Published: 3 December 2012

Abstract

Background

Reduced activity during cognitively demanding tasks has been reported in the default mode network in typically developing controls and individuals with autism. However, no study has investigated the default mode network (DMN) in first-degree relatives of those with autism (such as siblings) and it is not known whether atypical activation of the DMN is specific to autism or whether it is also present in unaffected relatives. Here we use functional magnetic resonance imaging to investigate the pattern of task-related deactivation during completion of a visual search task, the Embedded Figures Task, in teenagers with autism, their unaffected siblings and typically developing controls.

Findings

We identified striking reductions in deactivation during the Embedded Figures Task in unaffected siblings compared to controls in brain regions corresponding to the default mode network. Adolescents with autism and their unaffected siblings similarly failed to deactivate regions, including posterior cingulate and bilateral inferior parietal cortex.

Conclusions

This suggests that a failure to deactivate these regions is a functional endophenotype of autism, related to familial risk for the condition shared between individuals with autism and their siblings.

Keywords:
Autism; Default mode network; Functional MRI; Endophenotype