{
  "abstract": "Background There are many potential aetiologies underlying catatonia, and despite extensive investigation, there remains a proportion of patients, for whom no clear cause is identified. As such, there is increasing interest in the genetics of catatonia. We aimed to provide the first comprehensive synthesis of genetic abnormalities in catatonia.Methods In this systematic review (PROSPERO CRD42023455118) we searched MEDLINE All, Embase classic + Embase, PsycINFO and AMED up to 15/08/23. We included all age groups with genetic testing and phenotyping for catatonia. 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 summarised with a narrative synthesis.Findings We extracted data from 99 eligible studies, 54 of which were case reports. Of 8600 included individuals, 636 had both catatonia and a genetic abnormality. 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). A wide range of genetic conditions were reported in catatonia, including Phelan-McDermid syndrome (n=80), 22q11.2 deletion syndrome (23), Down’s syndrome (19), Cornelia de Lange syndrome (9), fragile X syndrome (6), Marfan’s syndrome (6) and Wilson’s disease (3), as well as 41 other conditions with only 1 or 2 cases. Psychosocial stressors were commonly identified as precipitants for catatonic episodes. Study quality was good in 29 studies, moderate in 53 and poor in 17. The major focus of association studies has centred on periodic catatonia; despite identifying candidate genes at both 22q13 and 15q15, none have been replicated.Interpretation Catatonia can manifest in a wide range of genetic syndromes. Psychosocial stressors are likely to be important precipitants in vulnerable individuals. Genetic research has the potential to unveil the underlying pathophysiology of catatonia more broadly, paving the way for innovative therapeutic approaches to address this complex neuropsychiatric disorder.",
  "authors": [
    {
      "affiliations": [
        "*Joint first authors"
      ],
      "name": "Isabella Conti"
    },
    {
      "affiliations": [
        "*Joint first authors"
      ],
      "name": "Kanchana Ramachandran"
    },
    {
      "affiliations": [
        "*Joint first authors",
        "†Joint senior authors"
      ],
      "name": "Jack B Fanshawe"
    },
    {
      "affiliations": [
        "*Joint first authors",
        "†Joint senior authors"
      ],
      "name": "James B Badenoch"
    },
    {
      "affiliations": [
        "*Joint first authors",
        "†Joint senior authors"
      ],
      "name": "Emma Rengasamy"
    },
    {
      "affiliations": [
        "*Joint first authors",
        "†Joint senior authors"
      ],
      "name": "Maria Rogdaki Ben Cross"
    },
    {
      "affiliations": [
        "*Joint first authors",
        "†Joint senior authors"
      ],
      "name": "Anthony David"
    },
    {
      "affiliations": [
        "*Joint first authors",
        "†Joint senior authors"
      ],
      "name": "Paramala Santosh"
    },
    {
      "affiliations": [
        "†Joint senior authors"
      ],
      "name": "Jonathan P Rogers"
    },
    {
      "affiliations": [
        "†Joint senior authors"
      ],
      "name": "Cameron J Watson"
    }
  ],
  "title": "#8098 Genetic abnormalities in catatonia: a systematic review",
  "uid": "5e15fcd4-1941-55da-986e-315446260e65"
}