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Background and objective <p>Tuberous sclerosis complex (TSC) is a hereditary disorder that leads to tumor growth in various organs. Manifestations from mutations in the TSC1 or TSC2 genes comprise seizures, developmental delay, and skin abnormalities. This literature search has been dedicated to emphasizing the critical role of early diagnosis and the formulation of individualized plans for this target population with co-occurring TSC and Autism Spectrum Disorder (ASD).</p> Experimental procedure <p>Behavioral and developmental tests can evaluate ASD symptoms; neuroimaging methods like functional MRI and PET scans can identify brain abnormalities, and molecular genetic analysis can detect TSC1/TSC2 mutations. Differential Diagnostic Approach These include medical histories and physical examinations to consider that ASD and TSC present the same symptoms.</p> Results <p>Although 90% of TSC patients are reported to have TSC-associated neuropsychiatric disorders, 30–50% of patients fulfil the clinical criteria of ASD. In comparison, the estimate for the rate of ASD prevalence in TSC patients ranges from 17 to 63%, with the characteristics of infantile spasms and early-onset epilepsy. The diagnosis is further challenged by the fact that there are shared symptoms between both, namely seizures and intellectual impairment.</p> Conclusion <p>The shared symptoms between TSC and ASD suggest the need for multidisciplinary approaches in both diagnosis and treatment. A personalized therapeutic plan should include behavioral therapy, medication with Everolimus, mammalian target of rapamycin (mTOR) inhibitors, and advanced neuroimaging. The future of research in biomarkers, molecular medicines, and improving diagnostic protocols holds great promise for optimizing patient care and treatment options.</p>

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The clinical interface of tuberous sclerosis complex and autism spectrum disorder: insights and future directions

  • 期刊论文

  • 发表日期：

    2025年2月25日

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  • Reet Ramani,
  • Barika Fatima,
  • Abuzar Hussain,
  • Umer Shahid,
  • Aman Kamani,
  • Sahibzada Mohammad Abu Bakar,
  • Hufsa Naveed,
  • Tooba Naveed,
  • Saba Ambreen Aftab,
  • Ahmed Zubair Abbasi

摘要

Background and objective

Tuberous sclerosis complex (TSC) is a hereditary disorder that leads to tumor growth in various organs. Manifestations from mutations in the TSC1 or TSC2 genes comprise seizures, developmental delay, and skin abnormalities. This literature search has been dedicated to emphasizing the critical role of early diagnosis and the formulation of individualized plans for this target population with co-occurring TSC and Autism Spectrum Disorder (ASD).

Experimental procedure

Behavioral and developmental tests can evaluate ASD symptoms; neuroimaging methods like functional MRI and PET scans can identify brain abnormalities, and molecular genetic analysis can detect TSC1/TSC2 mutations. Differential Diagnostic Approach These include medical histories and physical examinations to consider that ASD and TSC present the same symptoms.

Results

Although 90% of TSC patients are reported to have TSC-associated neuropsychiatric disorders, 30–50% of patients fulfil the clinical criteria of ASD. In comparison, the estimate for the rate of ASD prevalence in TSC patients ranges from 17 to 63%, with the characteristics of infantile spasms and early-onset epilepsy. The diagnosis is further challenged by the fact that there are shared symptoms between both, namely seizures and intellectual impairment.

Conclusion

The shared symptoms between TSC and ASD suggest the need for multidisciplinary approaches in both diagnosis and treatment. A personalized therapeutic plan should include behavioral therapy, medication with Everolimus, mammalian target of rapamycin (mTOR) inhibitors, and advanced neuroimaging. The future of research in biomarkers, molecular medicines, and improving diagnostic protocols holds great promise for optimizing patient care and treatment options.