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Related Experiment Video

Updated: Aug 22, 2025

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Tuberous sclerosis complex-associated neuropsychiatric disorders.

Anna B Marcinkowska1,2, Agnieszka Tarasewicz3, Sergiusz Jóźwiak4

  • 1Gdański Uniwersytet Medyczny, Zakład Fizjologii Człowieka, Pracownia Stosowanych Neuronauk Poznawczych.

Psychiatria Polska
|November 12, 2022
PubMed
Summary
This summary is machine-generated.

Tuberous sclerosis complex (TSC) is a genetic disorder often leading to neuropsychiatric disorders (TAND). This review details TAND symptoms, diagnosis, and management, emphasizing multidisciplinary care for affected individuals.

Keywords:
tuberous sclerosis complextuberous sclerosis complex-associated neuropsychiatric disorders

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Area of Science:

  • Neuroscience
  • Genetics
  • Psychiatry

Background:

  • Tuberous sclerosis complex (TSC) is a rare genetic disorder (phacomatosis) with a broad clinical spectrum.
  • Mutations in TSC1 or TSC2 genes frequently lead to lifelong neuropsychiatric symptoms.
  • Many TSC cases remain undiagnosed due to symptom variability.

Purpose of the Study:

  • To provide a comprehensive, state-of-the-art review of neuropsychiatric disorders associated with TSC.
  • To describe diagnostic criteria, pathology, and pathophysiology of TAND.
  • To highlight the TAND Checklist as an assessment tool.

Main Methods:

  • Literature review of existing research on TSC and associated neuropsychiatric conditions.
  • Detailed description of diagnostic criteria and neuroanatomical/pathophysiological aspects.
  • Presentation of the TAND Checklist for comprehensive assessment.

Main Results:

  • TSC affects multiple functional levels: intellectual, developmental, behavioral, psychiatric, academic, neuropsychological, and psychosocial.
  • Epilepsy in TSC has a specific presentation and significant impact on neurodevelopment.
  • The TAND Checklist offers a tool to evaluate all affected domains.

Conclusions:

  • Neuropsychiatric disorders (TAND) are a major component of TSC, affecting most individuals.
  • Accurate diagnosis and multidisciplinary management are crucial for patients with TSC.
  • Understanding TAND's spectrum is vital for effective patient care and intervention.