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Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
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Related Experiment Video

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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
PubMed
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.

Keywords:
DiGeorge syndromePhelan-McDermid syndromecatatoniadown’s syndromesystematic review

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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.