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

Junjie Hu1, Cailei Zhao2, Yu Fang3

  • 1Department of Pediatrics, Sihui People's Hospital, Zhaoqing, China.

BMC Psychiatry
|January 28, 2026
PubMed

Insights

Children with tuberous sclerosis complex (TSC) and autism spectrum disorder (ASD) showed increased risk with frontal lobe lesions or cardiac hamartomas. These findings help identify TSC children needing closer monitoring for ASD development.

Area of Science:

  • Neurology
  • Genetics
  • Developmental Pediatrics

Background:

  • Tuberous sclerosis complex (TSC) is a rare genetic disorder affecting multiple organs.
  • Children with TSC have an elevated risk for developing autism spectrum disorder (ASD).
  • Identifying specific risk factors in TSC patients is crucial for early intervention.

Purpose of the Study:

  • To investigate clinical characteristics associated with autism spectrum disorder (ASD) in children with tuberous sclerosis complex (TSC).
  • To identify potential risk factors for ASD development in TSC patients.

Main Methods:

  • Retrospective analysis of 171 patients diagnosed with TSC.
  • Comparison of clinical data between 62 TSC patients with ASD and 109 TSC patients without ASD.
  • ASD diagnosis confirmed using DSM-5 criteria and the Autism Diagnostic Scale (ADOS).

Main Results:

  • No significant differences were observed in age at diagnosis, seizure control, or EEG findings between TSC patients with and without ASD.
  • Cranial MRI lesion location and cardiac hamartomas were identified as potential risk factors for ASD in TSC patients (p=0.04 and p=0.013, respectively).

Conclusions:

  • Frontal lobe lesions on cranial MRI and the presence of cardiac hamartomas are associated with a higher risk of ASD in children with TSC.
  • These findings highlight specific clinical indicators for increased ASD risk in the TSC population.
Abstract

Keywords:
Autism spectrum disorderClinical manifestationCranial MRITuberous sclerosis complex

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