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The autism spectrum disorder phenotype in children with tuberous sclerosis complex: A systematic review and
Rebecca A Mitchell1,2,3, Marijke Mitchell1,2,4, Katrina Williams1,4,5
1The Royal Children's Hospital, Parkville, Australia.
Insights
Most children with tuberous sclerosis complex (TSC) and autism spectrum disorder (ASD) have intellectual disabilities. Early intervention for TSC-ASD should account for this high likelihood, as quality of life impacts are unknown.
Area of Science:
- Neurodevelopmental disorders
- Genetics and rare diseases
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder.
- Autism spectrum disorder (ASD) is a common comorbidity in TSC.
- Phenotypic characteristics of TSC-ASD require further investigation.
Purpose of the Study:
- To investigate the phenotype in autistic children with TSC.
- To assess ASD severity, intellectual ability, and behavioral characteristics.
- To understand adaptive and executive function, language, and ADHD features.
Main Methods:
- Systematic review and meta-analysis of 34 studies.
- Searched MEDLINE, Embase, and Cochrane Library up to March 2021.
- Data extraction and risk of bias assessment following PRISMA-P guidelines.
Main Results:
- 90% of children with TSC-ASD have intellectual disability.
- Young children with TSC-ASD and idiopathic ASD show similar severity and behavior patterns.
- Limited data available on specific phenotypic characteristics.
Conclusions:
- Intellectual disability is highly prevalent in TSC-ASD.
- Early intervention must address the high likelihood of intellectual disability.
- Further research is needed on quality of life and co-occurring difficulties in TSC-ASD.
Aim:
To investigate the phenotype in autistic children with tuberous sclerosis complex (TSC), specifically autism spectrum disorder (ASD) severity and characteristics, intellectual ability, adaptive and executive function, language skills, attention-deficit/hyperactivity disorder features, and internalizing and externalizing behaviours.
Method:
MEDLINE, Embase, and the Cochrane Library were searched up to March 2021. Studies that investigated predefined phenotypic factors in children with TSC-ASD were included according to the Preferred Reporting Items for Systematic review and Meta-Analysis Protocols (PRISMA-P) guidelines. Two authors independently reviewed titles, abstracts, full texts, and extracted the data. Risk of bias and GRADE assessments were completed.
Results:
Thirty-four studies with 3160 children with TSC, 30% with ASD, were included. Meta-analysis found that 90% (95% confidence interval 86%-94%) of children with TSC-ASD have an intellectual disability. There was some evidence to suggest that young children with TSC-ASD and idiopathic ASD have a similar pattern of severity and behaviour. Overall, data about phenotypic characteristics were limited.
Interpretation:
A greater proportion of children with TSC-ASD are reported to have an intellectual disability than children with idiopathic ASD. Early intervention should consider the needs of children with a high likelihood of intellectual disability. Research is needed to better understand the impacts of intellectual disability and other co-occurring difficulties on adaptive function, participation, and quality of life in TSC-ASD.
What This Paper Adds:
Most children with tuberous sclerosis complex (TSC) and autism spectrum disorder (ASD) have an intellectual disability. TSC-ASD early intervention planning should consider the high likelihood of intellectual disability. Quality of life and the functional impact of intellectual disability in TSC-ASD are not understood. Little is known about co-occurring difficulties in TSC-ASD.
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