Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex

Tye, Charlotte; Farroni, Teresa; Volein, Ágnes; Mercure, Evelyne; Tucker, Leslie; Johnson, Mark H. and Bolton, Patrick F.. 2015. Autism diagnosis differentiates neurophysiological responses to faces in adults with tuberous sclerosis complex. Journal of Neurodevelopmental Disorders, 7(1), 33. ISSN 1866-1947 [Article]

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Abstract or Description

Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder that is likely to be the outcome of complex aetiological mechanisms. One strategy to provide insight is to study ASD within tuberous sclerosis complex (TSC), a rare disorder with a high incidence of ASD, but for which the genetic cause is determined. Individuals with ASD consistently demonstrate face processing impairments, but these have not been examined in adults with TSC using event-related potentials (ERPs) that are able to capture distinct temporal stages of processing.

For adults with TSC (n = 14), 6 of which had a diagnosis of ASD, and control adults (n = 13) passively viewed upright and inverted human faces with direct or averted gaze, with concurrent EEG recording. Amplitude and latency of the P1 and N170 ERPs were measured.

Individuals with TSC + ASD exhibited longer N170 latencies to faces compared to typical adults. Typical adults and adults with TSC-only exhibited longer N170 latency to inverted versus upright faces, whereas individuals with TSC + ASD did not show latency differences according to face orientation. In addition, individuals with TSC + ASD showed increased N170 latency to averted compared to direct gaze, which was not demonstrated in typical adults. A reduced lateralization was shown for the TSC + ASD groups on P1 and N170 amplitude.

The findings suggest that individuals with TSC + ASD may have similar electrophysiological abnormalities to idiopathic ASD and are suggestive of developmental delay. Identifying brain-based markers of ASD that are similar in TSC and idiopathic cases is likely to help elucidate the risk pathways to ASD.

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This project was supported by the funding from the National Alliance for Autism Research (Autism Speaks) to Bolton and the UK Medical Research Council (no. G9715587) to Johnson. Bolton is supported by a National Institute for Health Research (NIHR, UK) Senior Investigator Award and the NIHR Biomedical Research Centre for Mental Health at the South London and Maudsley NHS Trust. Tye was supported by the funding from the Baily Thomas Charitable Fund during the manuscript preparation.


Autism spectrum disorder, ERP, Face, Gaze, Tuberous sclerosis complex

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28 September 2015Accepted
7 October 2015Published

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Date Deposited:

20 Dec 2022 11:08

Last Modified:

20 Dec 2022 11:17

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Yes, this version has been peer-reviewed.


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