Autism in children with TSC

About this study

Many people with TSC have epileptic seizures and developmental challenges, including autism and intellectual disability. This study investigated the characteristics of autism in children with TSC, referred to as the “autistic phenotype”. 

How the study was conducted

The researchers undertook a systematic review. This is a comprehensive review of the all the published studies on a subject – in this case studies conducted in children with TSC and autism.  They searched 3 international scientific databases. From 394 identified studies, they found 34 that matched their inclusion criteria. These studies had information about 3,160 children with TSC, one-third of whom were autistic. 

The researchers extracted data from the studies about the autism characteristics, including patterns of communication and behaviour. They also extracted data about intelligence, daily functioning, language skills, and attention deficit hyperactivity disorder (ADHD). 

The researchers used internationally accepted tools to assess the quality of the studies, to better understand if the data was reliable. Then, they summarised the data across the studies to reach conclusions, using a statistical technique called meta-analysis.

Outcomes of the study

The researchers found that:

  • 9 out of 10 children with TSC and autism had intellectual disability.
  • Young children with TSC and autism have a similar type of autism compared to autistic children without associated medical conditions (idiopathic autism). 
  • Language skills, ADHD, anxiety, depression, and aggression in TSC and autism have not been well studied.

Conclusions and implications of the study

  • Most children with TSC and autism have intellectual disability. 
  • Early intervention for children with TSC and autism should consider the needs of children with a high likelihood of intellectual disability. 
  • More research is needed to better understand the impacts of intellectual disability and other developmental challenges on participation and quality of life in autistic children with TSC.

Mitchell, R. A., Mitchell, M., & Williams, K. (2022). The autism spectrum disorder phenotype in children with tuberous sclerosis complex: A systematic review and meta-analysis. Developmental medicine and child neurology64(10), 1214–1229. 

Full paper available at:


This information is intended to provide some insights into recent TSC-related research.  It is not intended to, and it should not, constitute medical or other advice.  Readers are warned not to take any action without first seeking medical advice.