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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.
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.
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.
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.
On 4 July 1986, dye was injected at a point slightly above the equilibrium line on Storglaciären, a small valley glacier in northern Sweden. Just below the equilibrium line, the glacier bed is over-deepened. The dye re-appeared in a stream at the glacier terminus over the next 35 d. This stream normally carries relatively little sediment, in constrast to the situation in another nearby stream that also emerges from the glacier. This suggests that the dye traveled in englacial rather than subglacial conduits. Tracer tests utilizing salt in bore holes in the overdeepening support this interpretation, as the bore holes were draining well above the bed. The dye appeared during three distinct events, suggesting that it became divided into at least three separate parcels shortly after injection. This probably occurred in the crevassed area in the vicinity of the injection point.
The englacial location of the drainage may be explained by the fact that, in order to remain at the pressure melting-point, water in subglacial conduits coming out of the overdeepening may have had to warm up faster than would be possible by viscous heating alone. Such conduits would thus tend to freeze closed.
A consensus conference on the reasons for the undertreatment of depression was organized by the National Depressive and Manic Depressive Association (NDMDA) on January 17–18,1996. The target audience included health policymakers, clinicians, patients and their families, and the public at large. Six key questions were addressed: (1) Is depression undertreated in the community and in the clinic? (2) What is the economic cost to society of depression? (3) What have been the efforts in the past to redress undertreatment and how successful have they been? (4) What are the reasons for the gap between our knowledge of the diagnosis and treatment of depression and actual treatment received in this country? (5) What can we do to narrow this gap? (6) What can we do immediately to narrow this gap?
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