Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study

Sabine E. Mous*, Iris E. Overwater, Rita Vidal Gato, Jorieke Duvekot, Leontine W. Ten Hoopen, Maarten H. Lequin, Marie Claire Y. de Wit, Gwendolyn C. Dieleman

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Tuberous Sclerosis Complex (TSC) is characterized by a high prevalence of autism spectrum disorders (ASD). Little is known about the relation between cortical dysplasia and ASD severity in TSC. We assessed ASD severity (using the Autism Diagnostic Observation Scale), tuber and radial migration line (RML) count and location, and cognitive functioning in 52 children with TSC and performed regression and mediation analyses. Tuber and RML count were strongly positively related to ASD severity. However, when correcting for cognitive functioning, the majority of associations became insignificant and only total tuber count remained associated to the severity of restricted/repetitive behaviors. Occipital RML count remained associated with overall ASD severity, and social communication/interaction deficit severity specifically. This study shows the important explanatory role of cognitive functioning in the association between cortical dysplasia and ASD severity, and the relevance of separately studying the two ASD subdomains.

Original languageEnglish
Pages (from-to)753-765
JournalEuropean child & adolescent psychiatry
Volume27
Issue number6
DOIs
Publication statusPublished - Jun 2018

Keywords

  • Autism
  • Cognitive functioning
  • Intelligence
  • Quantitative autistic traits
  • Radial migration lines
  • Tubers

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