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Genetic abnormalities in catatonia: a systematic review.
Isabella Conti1,2, Kanchana Ramachandran3, James B Badenoch3,4
1Wolfson Institute of Population Health, https://ror.org/026zzn846Queen Mary University of London, London, UK.
Psychological Medicine
|June 13, 2025
Summary
Catatonia is linked to numerous genetic syndromes, indicating a shared vulnerability. This review synthesizes genetic abnormalities in catatonia, finding no unique presentation or treatment response across these diverse disorders.
Area of Science:
- Genetics
- Neuroscience
- Psychiatry
Background:
- Catatonia's etiology is often unclear, prompting investigation into its genetic underpinnings.
- This study provides the first comprehensive synthesis of genetic abnormalities associated with catatonia.
- Understanding the genetic basis of catatonia is crucial for identifying underlying vulnerabilities.
Approach:
- A systematic review was conducted, searching multiple databases (MEDLINE, Embase, PsycINFO, AMED) up to August 2023.
- Studies involving genetic testing and catatonia phenotyping across all age groups were included.
- Risk of bias was assessed using Joanna Briggs Institute tools, with results synthesized narratively.
Key Points:
- 99 studies involving 8600 individuals were analyzed.
- Forty-seven genetic conditions were reported in catatonia cases, including Phelan-McDermid syndrome, 22q11.2 deletion syndrome, and Down's syndrome.
- Periodic catatonia has been a focus, with candidate genes identified but not yet replicated.
Conclusions:
- Catatonia can be a manifestation of various genetic syndromes, suggesting a common vulnerability.
- No unique phenomenology or treatment response profile was identified in genetic associations of catatonia.
- Further research is needed to elucidate the specific genetic contributions to catatonia.
