Investigation of risk factors for autism spectrum disorder in children with tuberous sclerosis complex - Takeaways - MDSpire

Investigation of risk factors for autism spectrum disorder in children with tuberous sclerosis complex

  • By

  • Junjie Hu

  • Cailei Zhao

  • Yu Fang

  • Huiting Zhang

  • Jianxiang Liao

  • January 28, 2026

  • 0 min

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  • 1

    Tuberous sclerosis complex (TSC) is a genetic disorder associated with autism spectrum disorder (ASD) in pediatric patients.

  • 2

    Approximately 21% of children with TSC are diagnosed with ASD, highlighting a significant overlap between the two conditions.

  • 3

    The study aims to identify clinical characteristics and early markers for ASD in children with TSC to improve detection and management.

  • 4

    Altered mTOR pathway signaling is suggested as a key factor linking TSC and ASD, potentially guiding targeted therapeutic interventions.

  • 5

    The research utilized a retrospective observational design, analyzing clinical data from children diagnosed with TSC at Shenzhen Children’s Hospital.

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