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Catatonia 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.
Methods
In 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.
Results
We 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 (n = 80), 22q11.2 deletion syndrome (n = 23), and Down’s syndrome (n = 19). Study quality was good in 29 studies, moderate in 53, and poor in 17. The major focus of association studies has centered on periodic catatonia; despite identifying candidate genes at both 22q13 and 15q15, none have been replicated.
Conclusions
Catatonia 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.
To collate experiences of international medical graduates (trained psychiatrists) on the Medical Training Initiative (MTI) and equivalent programs (International Medical Fellowship (IMF)/CESR Fellowships) in the United Kingdom and to understand shared themes.
Method
Three psychiatrists with the experience of being part of MTI/IMF program, for a minimum of 1 year, participated in theme guided, focussed discussions to understand common experiences. These discussion where limited to 3 broad headings. Opportunities to grow, what we wish the college knew and what we wished the trusts and supervisors knew. The experiential accounts were captured and circulated among a group of 20 MTI/IMF/CESR fellowship doctors and rated on a 5 point Likert scale varying between strongly agree to strongly disagree.
Result
The findings suggest that the expectations and experiences of the psychiatrists on such programs share some common themes. Most of them had varied experiences under the theme ‘opportunities to grow’. The suggestions for what these doctors ‘wished the trusts, college and supervisors knew’ had a good concordance among the 20 doctors who reviewed the themes and suggestions. The details of the themes and commonalities will be discussed at the conference.
Conclusion
The expectations and experiences of the doctors on MTI/equivalent program share common themes. Bridging the gap between MTI experience to an excellent MTI experience would involve identifying such shared experiences, that could potentially guide development of processes, thereby making these training fellowships better tailored to each trainee.
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