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Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical
Sabine E Mous1,2, Iris E Overwater3,4, Rita Vidal Gato5,3
1Department of Child and Adolescent Psychiatry/Psychology, Erasmus Medical Center-Sophia Children's Hospital, P.O. Box 2060, 3000 CB, Rotterdam, The Netherlands. s.mous@erasmusmc.nl.
Insights
Cognitive function significantly impacts autism spectrum disorder (ASD) severity in Tuberous Sclerosis Complex (TSC). Cortical dysplasia relates to ASD, but cognitive abilities explain most of this link.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- Tuberous Sclerosis Complex (TSC) frequently co-occurs with autism spectrum disorders (ASD).
- The relationship between cortical dysplasia (brain abnormalities) and ASD severity in TSC is not well understood.
- Understanding these links is crucial for targeted interventions in TSC.
Purpose of the Study:
- To investigate the association between cortical dysplasia (tuber and radial migration line counts/locations) and ASD severity in children with TSC.
- To determine the role of cognitive functioning in mediating the relationship between cortical dysplasia and ASD.
- To examine specific ASD symptom domains (restricted/repetitive behaviors, social communication deficits).
Main Methods:
- Assessed ASD severity using the Autism Diagnostic Observation Scale in 52 children with TSC.
- Quantified tuber and radial migration line (RML) count and location as measures of cortical dysplasia.
- Employed regression and mediation analyses to explore relationships between dysplasia, cognitive function, and ASD severity.
Main Results:
- Tuber and RML counts were initially strongly associated with overall ASD severity.
- Cognitive functioning significantly mediated these associations, rendering most insignificant after correction.
- Total tuber count remained linked to restricted/repetitive behaviors; occipital RML count linked to overall ASD and social communication deficits.
Conclusions:
- Cognitive functioning plays a critical explanatory role in the link between cortical dysplasia and ASD severity in TSC.
- The findings highlight the importance of assessing cognitive abilities when evaluating ASD in TSC.
- Separating ASD symptom subdomains is essential for a nuanced understanding of TSC-related neurodevelopmental outcomes.
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.
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