Evidence map›Paper›PMID 40509778›Full record

SynthesisPsychological medicine2025

Genetic abnormalities in catatonia: a systematic review.

Isabella Conti, Kanchana Ramachandran, James B Badenoch, Jack B Fanshawe, Emma Rengasamy, Ben Cross, Maria Rogdaki, Anthony S David, Paramala Santosh, Jonathan P Rogers and 1 more

Abstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Psychological medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Isabella ContiWolfson Institute of Population Health, https://ror.org/026zzn846Queen Mary University of London, London, UK.ORCID 0000-0003-2611-2169
Kanchana RamachandranDepartment of Psychiatry, https://ror.org/015803449South London and Maudsley NHS Foundation Trust, London, UK.ORCID 0009-0007-7663-4201
James B BadenochDepartment of Psychiatry, https://ror.org/015803449South London and Maudsley NHS Foundation Trust, London, UK.
Jack B FanshaweDepartment of Psychiatry, https://ror.org/052gg0110University of Oxford, Oxford, UK.ORCID 0000-0003-3732-217X
Emma RengasamyDepartment of Public Health and Primary Care, https://ror.org/013meh722University of Cambridge, Cambridge, UK.ORCID 0000-0001-7059-9627
Ben Crosshttps://ror.org/03vtyzs10Mersey Care NHS Trust, Liverpool, UK.ORCID 0000-0002-9250-6329
Maria RogdakiInstitute of Psychiatry, Psychology and Neuroscience, https://ror.org/0220mzb33King's College London, London, UK.
Anthony S DavidDivision of Psychiatry, https://ror.org/02jx3x895University College London, London, UK.ORCID 0000-0003-0967-774X
Paramala SantoshDepartment of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, https://ror.org/0220mzb33King's College London, London, UK.ORCID 0000-0003-4830-5893
Jonathan P RogersDivision of Psychiatry, https://ror.org/02jx3x895University College London, London, UK.ORCID 0000-0002-4671-5410
Cameron WatsonDepartment of Psychiatry, https://ror.org/015803449South London and Maudsley NHS Foundation Trust, London, UK.ORCID 0000-0003-2346-4636

Funding

NIHR F-112604NIHR Maudsley Biomedical Research Centre F-112600NIHR Maudsley Biomedical Research Centre F-112602NIHR Oxford Biomedical Research Centre F-112601Wellcome TrustWellcome Trust F-112603
6 · The paper itself

Abstract

backgroundCatatonia has many potential underlying causes, but in some patients, no clear etiology is identified, sparking growing interest in its genetic basis. We aimed to provide the first comprehensive synthesis of genetic abnormalities in catatonia.

methodsIn this systematic review (PROSPERO CRD42023455118) we searched MEDLINE All, Embase Classic + Embase, PsycINFO, and AMED up to August 15, 2023, for studies on genetic testing and catatonia phenotyping in all age groups. Catatonia was diagnosed using specified diagnostic criteria or description of clinical features. Risk of bias was assessed using the Joanna Briggs Institute quality assessment tools. Results were summarized with a narrative synthesis.

resultsWe included 99 studies involving 8600 individuals. Sex was reported for 6080 individuals, of whom 3208 (52.8%) were male. Mean age at onset of catatonia was 28.8 years (SD 16.3). The median duration of the index catatonic episode was 180 days (IQR 38 to 668). Stupor and mutism were the most frequently reported symptoms. Forty-seven genetic conditions were reported in catatonia, including Phelan-McDermid syndrome (

conclusionsCatatonia can manifest in a wide range of genetic syndromes, suggesting a shared vulnerability across diverse genetic and developmental disorders. We did not identify a unique phenomenology or treatment response profile in genetic associations of catatonia.

Indexed as

CatatoniaAdultFemaleHumansMalecatatoniaDiGeorge syndromedown’s syndromePhelan-McDermid syndromesystematic review

Identifiers

PMID40509778
PMCPMC12180507

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.