Atypical Face Processing in Children With Tuberous Sclerosis Complex

Abstract

There is a high incidence of autism in tuberous sclerosis complex. Given the evidence of impaired face processing in autism, the authors sought to investigate electrophysiological markers of face processing in children with tuberous sclerosis complex. The authors studied 19 children with tuberous sclerosis complex under age 4, and 20 age-matched controls, using a familiar–unfamiliar faces paradigm. Of the children, 6 with tuberous sclerosis complex (32%) had autism. Children with tuberous sclerosis complex showed a longer N290 latency than controls (276 ms vs 259 ms, P = .05) and also failed to show the expected hemispheric differences in face processing. The longest N290 latency was seen in (1) children with autism and tuberous sclerosis complex and (2) children with temporal lobe tubers. This study is the first to quantify atypical face processing in children with tuberous sclerosis complex. This functional impairment may provide insight into a mechanism underlying a pathway to autism in tuberous sclerosis complex.

Everolimus for treatment of tuberous sclerosis complex‐associated neuropsychiatric disorders

“…Our trial highlights limitations in obtaining and interpreting accurate assessments of mTOR‐associated changes in neuropsychological and behavior domains of TAND for children with TSC. Detailed TAND characterization in TSC children has been reported only in small cohorts, using a wide variety of assessment tools, age ranges, and populations . Prior attempts to measure TAND‐related outcomes in human TSC clinical trials with mTOR inhibitors have taken different approaches to overcome these obstacles.…”

Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex

“…21 Furthermore, a recent electrophysiologic study also demonstrated atypical face processing in children with TSC compared with typically developing children. 22 It is possible that, in TSC, disorganization of visual pathways leads to impairment in early visual perception, which, in turn, places these infants at higher risk of deficits in social function. Because of our small sample size at 6 months of age, we could not analyze VR based on ASD grouping, but continuing studies will characterize visual perception both behaviorally and electrophysiologically in infants with TSC.…”

Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex

“…Based on evidence for aberrations in the retinogeniculate pathway in animal models of TSC1/2 14–15 and further supported by evidence of atypical visually mediated behaviors in infants with TSC 18 and delays in face processing in older children with TSC 17 , we posited whether infants with TSC might demonstrate functional disturbances in visual cortical processing, reflected in morphological alterations to the VEP. Contrary to our hypothesis, we observed remarkably intact VEPs in infants with TSC, as quantified by comparable amplitudes and latencies of the primary components of the VEP – the N1, P1 and N2.…”

“…The absence of abnormalities in early visual cortical processing in TSC has important implications for our understanding of higher-level visual processing disturbances in this group 17–18 . The robust VEPs found in this group suggests that the early processing of basic visual information is intact in TSC and, as a consequence, disturbances in more complex visual skills are unlikely to be a consequence of alterations in early visual processing in the first year of life.…”

“…In an electrophysiological study investigating face perception, we found that children with TSC had delayed latencies in their neural response to faces compared to typically developing, age matched children. 17 . At the behavioral level, we found that infants with TSC demonstrated specific delays in visually mediated behaviors at 6 months of age that subsequently generalized to all developmental domains by 9 months 18 .…”