To compare clinical characteristics of children with Tuberous Sclerosis Complex (TSC) with and without Autism Spectrum Disorder (ASD) to identify early markers that can improve detection and management of ASD.
Key Findings:
21% of children with TSC were diagnosed with ASD.
Altered mTOR pathway may contribute to ASD symptoms in TSC patients, suggesting a potential target for intervention.
Clinical characteristics differ significantly between TSC children with and without ASD.
Interpretation:
The findings suggest that TSC serves as a model for studying ASD, highlighting the importance of mTOR dysregulation in the pathogenesis of ASD in this population, which could lead to targeted therapeutic interventions.
Limitations:
Single-center study may limit generalizability; further multi-center studies are needed.
Retrospective design may introduce bias in data collection, affecting the reliability of findings.
Conclusion:
Identifying clinical markers associated with ASD in TSC can enhance early detection and management strategies, potentially leading to targeted therapeutic interventions that improve patient outcomes.
A large audit of biomedical publications suggests fabricated references are increasingly appearing in peer-reviewed papers — often in ways that are difficult for reviewers and readers to detect.
