Abstract
BackgroundAutism 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.MethodsFor 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.ResultsIndividuals 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.ConclusionsThe 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.Electronic supplementary materialThe online version of this article (doi:10.1186/s11689-015-9129-2) contains supplementary material, which is available to authorized users.
Highlights
Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder that is likely to be the outcome of complex aetiological mechanisms
The current study aimed to examine neurophysiological responses to faces and eye gaze in adults with tuberous sclerosis complex (TSC) with and without a diagnosis of ASD, compared to typical adult controls, using a paradigm that has been used in several previous studies of ASD [21, 35, 42, 43]
Post hoc analyses showed that controls had reduced P1 amplitude compared to TSC-only (p = .006, d = 1.36) and TSC + ASD (p = .02, d = 1.22)
Summary
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. Autism spectrum disorder (ASD) is a common childhoodonset disorder characterized by social and communication impairments and restricted/repetitive behaviours and interests. Molecular genetic studies have identified a number of copy numbers and rare variants that underlie. Tye et al Journal of Neurodevelopmental Disorders (2015) 7:33 where the genetic cause is constrained. Tuberous sclerosis complex (TSC) is a multi-systemic disorder caused by a mutation in TSC1 on chromosome 9q34 or TSC2 on chromosome 16p13.3. Remarkable progress has been made with regard to clarifying the molecular biology of TSC, and this has led to extremely promising new treatment approaches [10,11,12]
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