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Published on: May 15, 2020
Tuberous sclerosis-associated psychosis: a systematic review
1Department of Psychiatry, Mathison Centre for Mental Health Research and Education, Hotchkiss Brain Institute, The University of Calgary, 2500 University Drive NW, Calgary, AB, T2N1N4, Canada. mark.colijn2@ucalgary.ca.
Psychosis in tuberous sclerosis (TS) can mimic schizophrenia. Antipsychotic treatment appears effective and well-tolerated in most TS patients experiencing psychosis, though more research is needed.
Area of Science:
- Neuroscience
- Psychiatry
- Genetics
Background:
- Tuberous sclerosis is a genetic disorder associated with various neuropsychiatric symptoms.
- Psychosis is an underreported symptom in tuberous sclerosis, necessitating further characterization.
Purpose of the Study:
- To systematically review and characterize tuberous sclerosis-associated psychosis.
- To evaluate the treatment response to antipsychotic therapies in affected individuals.
Main Methods:
- A systematic literature search was conducted in June 2025 using PubMed and Scopus.
- Included were 26 case reports detailing 27 individuals with patient-specific psychotic symptoms in tuberous sclerosis.
- Data on symptom presentation, seizure history, co-occurring conditions, and treatment response were analyzed.
Main Results:
- Psychotic symptoms in tuberous sclerosis patients resembled those seen in schizophrenia regarding onset age and symptom types.
- Only three cases suggested a link between psychosis and seizures, despite most patients having a history of seizures.
- Seventy-five percent of individuals showed a good response to at least one antipsychotic trial, with minimal side effects reported.
Conclusions:
- Psychotic presentations in tuberous sclerosis can be clinically similar to schizophrenia.
- Antipsychotic therapy may be effective and well-tolerated for psychosis in tuberous sclerosis.
- Further research, including randomized controlled trials, is essential due to the limitations of current case-report-based evidence.
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