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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.
Neuropsychiatry training in the UK currently lacks a formal scheme or qualification, and its demand and availability have not been systematically explored. We conducted the largest UK-wide survey of psychiatry trainees to examine their experiences in neuropsychiatry training.
Results
In total, 185 trainees from all UK training regions completed the survey. Although 43.6% expressed interest in a neuropsychiatry career, only 10% felt they would gain sufficient experience by the end of training. Insufficient access to clinical rotations was the most common barrier, with significantly better access in London compared with other regions. Most respondents were in favour of additional neurology training (83%) and a formal accreditation in neuropsychiatry (90%).
Clinical implications
Strong trainee interest in neuropsychiatry contrasts with the limited training opportunities currently available nationally. Our survey highlights the need for increased neuropsychiatry training opportunities, development of a formalised training programme and a clinical accreditation pathway for neuropsychiatry in the UK.
Declining labor force participation of older men throughout the 20th century and recent increases in participation have generated substantial interest in understanding the effect of public pensions on retirement. The National Bureau of Economic Research's International Social Security (ISS) Project, a long-term collaboration among researchers in a dozen developed countries, has explored this and related questions. The project employs a harmonized approach to conduct within-country analyses that are combined for meaningful cross-country comparisons. The key lesson is that the choices of policy makers affect the incentive to work at older ages and these incentives have important effects on retirement behavior.
A significantly higher prevalence of neurological conditions has been found both before and after a diagnosis of schizophrenia, bipolar disorder and other psychotic illnesses compared with the general population.
We aimed to understand the cumulative prevalence of 16 neurological conditions in people with severe mental illness (SMI) from 5 years before to 5 years after their SMI diagnosis. We hypothesised that individual neurological conditions would have differential temporal relationships relative to SMI diagnosis.
Methods
In a longitudinal matched study, we identified a cohort of patients aged 18–100 years from Jan 1, 2000, and Dec 31, 2018, from the UK Clinical Practice Research Datalink (CPRD). Neurological conditions were classified using ICD–11 criteria into umbrella clusters of disease. Outcome of interest was a diagnosis of SMI. Each SMI patient was matched 1:4 to patients without SMI in the CPRD cohort, matching for sex, 5-year age band, primary care practice and year of practice registration. The cumulative prevalence of 16 neurological conditions was recorded cross-sectionally at 5, 3, 1 years prior to SMI diagnosis, at SMI diagnosis (index), and 1, 3 and 5 years after SMI diagnosis. Logistic regression modelling aided comparison of differential prevalence of neurological conditions, adjusting for sociodemographic variables, and with further adjustment for body mass index, smoking, alcohol and non-prescription drug use. Multiple imputation was applied in cases of missing data.
Results
We identified 68,789 patients with SMI, matched to 274,827 controls. The median age was 40.9 years, 49.05% of the overall cohort were female (33,783 SMI patients, 134,740 controls), and the majority were of White ethnicity (35,228, 51.2% SMI patients, 125,518, 45.7% controls). The most prevalent neurological conditions across seven timepoints were cerebral palsy, cerebrovascular disease, dementia, epilepsy, multiple sclerosis, paralysis and Parkinson's disease. Conditions with the highest fully adjusted odds ratios (ORs) for SMI diagnosis were dementia 3 years after SMI diagnosis (5.32, 95% CI 4.95–5.71) and Parkinson's disease 5 years after SMI diagnosis (4.26, 95% CI 3.68–4.94).
Conclusion
All 16 neurological conditions have higher prevalence in the SMI cohort compared with controls, with different prevalence patterns observed over the 10-year study period. A consistently lower OR for schizophrenia compared with other SMI warrants further exploration, as neurological conditions risk being under-recorded.
A greater understanding of the temporal relationship between SMI and neurological conditions may help promote earlier diagnosis, increased screening and better holistic management of both conditions.
Individuals with epilepsy are at risk of developing pre-ictal, ictal, postictal or interictal psychoses. Antipsychotic drugs (APDs) are the main class of drugs used to treat psychosis and schizophrenia. The efficacy and safety of APDs as a treatment for epileptic psychosis is not well understood. Hence, we aimed to conduct a systematic review assessing the effectiveness and adverse effects of antipsychotic drugs to treat psychosis in people with epilepsy.
Methods
We adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We searched MEDLINE, Embase, PsycInfo and AMED from database inception to 20/06/2023. We contacted experts in the field and performed citation searches to identify additional records. Title, abstract, full-text review, and data analysis were conducted in duplicate, with conflicts resolved by discussion among authors. Given the heterogeneity of study designs, meta-analysis was not deemed appropriate; instead, the results were tabulated in a narrative synthesis. The Joanna Briggs Institute Risk of Bias tool was used to assess study quality.
Results
We identified 13 studies, with a total of 1,180 participants. In the 9 case series included, the psychotic symptoms of all but 3 out of 28 patients treated with APDs partially improved or fully resolved. 3 of the cohort studies reported an association between antipsychotic use and longer duration of psychotic episodes, 2 found similar results in both APD and non-APD groups, and 2 did not report control psychosis outcomes. When reported, seizure frequency was observed to remain unchanged or decrease following APD treatment.
Conclusion
Available evidence does not suggest that antipsychotics increase seizure risk in individuals with epilepsy. However, further data from randomised controlled trials and well-controlled cohort studies are urgently needed to draw more definitive conclusions.
Seclusion is a restrictive practice that many healthcare services are trying to reduce. Previous studies have sought to identify predictors of seclusion initiation, but few have investigated factors associated with adverse outcomes after seclusion termination.
Aims
To assess the factors that predict an adverse outcome within 24 h of seclusion termination.
Method
In a cohort study of individuals secluded in psychiatric intensive care units, we investigated factors associated with any of the following outcomes: actual violence, attempted violence, or reinitiation of seclusion within 24 h of seclusion termination. Among the seclusion episodes that were initiated between 29 March 2018 and 4 March 2019, we investigated the exposures of medication cooperation, seclusion duration, termination out of working hours, involvement of medical staff in the final seclusion review, lack of insight, and agitation or irritability. In a mixed-effects logistic regression model, associations between each exposure and the outcome were calculated. Odds ratios were calculated unadjusted and adjusted for demographic and clinical variables.
Results
We identified 254 seclusion episodes from 122 individuals (40 female, 82 male), of which 106 (41.7%) had an adverse outcome within 24 h of seclusion termination. Agitation or irritability was associated with an adverse outcome, odds ratio 1.92 (95% CI 1.03 to 3.56, P = 0.04), but there was no statistically significant association with any of the other exposures, although confidence intervals were broad.
Conclusions
Agitation or irritability in the hours preceding termination of seclusion may predict an adverse outcome. The study was not powered to detect other potentially clinically significant factors.
Edited by
David Kingdon, University of Southampton,Paul Rowlands, Derbyshire Healthcare NHS foundation Trust,George Stein, Emeritus of the Princess Royal University Hospital
The chapter describes the history, mechanisms and phases of drug treatment of antipsychotics including at-risk mental states (ARMS), first-episode psychosis (FEP), maintenance, treatment-resistant schizophrenia (TRS) and ultra-resistant psychosis. Specific treatments of schizoaffective disorder, catatonia and affective comorbidities of psychosis target negative symptoms and cognition. Rapid tranquilisation is described: general principles, de-escalation, routes of administration and medication selection. Management of organic psychotic disorders is discussed: general principles and specific conditions, epilepsy, Huntington’s, stroke, drug-induced, autoimmune encephalitis, inflammatory, CNS infections, thyroid disorders and traumatic brain injury. Side effects are elaborated: somnolence and sedation; hyperprolactinaemia and sexual dysfunction; motor, cardiac, metabolic and anticholinergic side effects; and also diabetes and impaired glucose tolerance and clozapine-specific side effects. Finally, potential drug interactions are explored.
OBJECTIVES/GOALS: The purpose of this study was to assess if the Mentoring Competency Assessment (MCA) could be used to capture mentee gains in mentorship skills and how the mentorship competencies may vary structurally for mentees compared to mentors, while the original MCA was shown to be a validated measure to assess mentor skills. METHODS/STUDY POPULATION: The mentee training survey data were collected nationally from 2015 to 2022. The survey data set included 401 respondents who consented to participate after 59 mentee training events hosted by 34 institutions/organizations who participated in face-to-face and online training as well as completed the Mentoring Competency Assessment (MCA) in their surveys. We conducted principal component analysis (PCA) with varimax rotation to investigate the internal structure of the MCA and Hatcher’s criteria were applied. After a team of mentoring experts independently interpreted the PCA results and reached a consensus on the interpretations of the components, factor analysis and internal consistency reliability analysis were applied to assess the construct validity and the reliability. RESULTS/ANTICIPATED RESULTS: There were significant component loadings of the eight components with varimax rotation and 22 of the total 26 items were loaded into components. Four items, (5) pursuing strategies to improve communication, (6) coordinating with other mentors, (11) developing strategies to meet goals, and (23) setting career goals, were excluded from the factor analysis and Cronbach’s alpha analysis since these items were not significantly loaded into any components. The eight-component structure was validated (χ2=313.209, p<.001, RMSEA=.083, CFI=.907, TLI=.881, SRMR=.073) and the hypothesized model of the eight components resulted in an acceptable fit to the data with standardized factor loadings ranging from 0.58 to 0.93. The alpha coefficient is from 0.58 to 0.90, suggesting the items have high internal consistency. DISCUSSION/SIGNIFICANCE: Based upon the findings we recommend that the full revised MCA for mentees is used to capture mentees’ mentorship skill gains even if not all of the competency modules are used in the training. The development and validation of measures such as the MCA are important as we move toward the use of common measures across programs such as the CTSAs.
We report a case of hypoplastic left heart syndrome and with subsequent aortopathy and then found to have hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome due to a germline SMAD4 pathologic variant. The patient’s staged palliation was complicated by the development of neoaortic aneurysms, arteriovenous malformations, and gastrointestinal bleeding thought to be secondary to Fontan circulation, but workup revealed a SMAD4 variant consistent with hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome. This case underscores the importance of genetic modifiers in CHD, especially those with Fontan physiology.
We elicit social networks among students in an Italian high school either by measuring the complete network in an incentive-compatible way or by using a truncated elicitation of at most five links. We find that truncation undercounts weak links by up to 90% but only moderately undercounts the time spent with strong friends. We use simulations to demonstrate that the measurement error induced by censoring might be particularly significant when studying phenomena such as social learning which are often thought to operate along weak ties. We then discuss how a modified network elicitation protocol might be able to reduce measurement error.
Clinical trials are a vital component of translational science, providing crucial information on the efficacy and safety of new interventions and forming the basis for regulatory approval and/or clinical adoption. At the same time, they are complex to design, conduct, monitor, and report successfully. Concerns over the last two decades about the quality of the design and the lack of completion and reporting of clinical trials, characterized as a lack of “informativeness,” highlighted by the experience during the COVID-19 pandemic, have led to several initiatives to address the serious shortcomings of the United States clinical research enterprise.
Methods and Results:
Against this background, we detail the policies, procedures, and programs that we have developed in The Rockefeller University Center for Clinical and Translational Science (CCTS), supported by a Clinical and Translational Science Award (CTSA) program grant since 2006, to support the development, conduct, and reporting of informative clinical studies.
Conclusions:
We have focused on building a data-driven infrastructure to both assist individual investigators and bring translational science to each element of the clinical investigation process, with the goal of both generating new knowledge and accelerating the uptake of that knowledge into practice.
Family involvement has been identified as a key aspect of clinical practice that may help to prevent suicide.
Aims
To investigate how families can be effectively involved in supporting a patient accessing crisis mental health services.
Method
A multi-site ethnographic investigation was undertaken with two crisis resolution home treatment teams in England. Data included 27 observations of clinical practice and interviews with 6 patients, 4 family members, and 13 healthcare professionals. Data were analysed using framework analysis.
Results
Three overarching themes described how families and carers are involved in mental healthcare. Families played a key role in keeping patients safe by reducing access to means of self-harm. They also provided useful contextual information to healthcare professionals delivering the service. However, delivering a home-based service can be challenging in the absence of a supportive family environment or because of practical problems such as the lack of suitable private spaces within the home. At an organisational level, service design and delivery can be adjusted to promote family involvement.
Conclusions
Findings from this study indicate that better communication and dissemination of safety and care plans, shared learning, signposting to carer groups and support for carers may facilitate better family involvement. Organisationally, offering flexible appointment times and alternative spaces for appointments may help improve services for patients.
Presenting the findings of a major Economic and Social Research Council (ESRC) project into urban austerity governance in eight cities across the world, this book offers comparative reflections on the myriad experiences of collaborative governance and its limitations.
Our book details and documents the impact of austerity governance on a selection of cities. Yet for some commentators, cities and urban spaces remain the ‘new theatres of struggle’ in our contemporary condition (Hamel, 2014). This chapter critically assesses the forms of social and political resistance that emerged across the eight cities in our study. Building on themes introduced in Chapters 1 and 2, it argues that cities serve as crucibles for a diverse set of political contestations, responses and initiatives, but they exhibit differential capacities to shape their environments. Indeed, it demonstrates the complex ‘mix’ of political traditions, institutions, socio-economic structures, practices and ideological systems that come together to constitute the city as a political engine. In so doing, we draw particular attention to the shifting locus of resistance to austerity across communities and neighbourhoods. Our analysis and evaluation suggest that the future projection of cities as ‘spaces of hope’ rests on the twin challenges of ‘scaling up’ neighbourhood protests into broad and anti-systemic political projects, while reinvesting in the construction of progressive relations with the local state that open local spaces of manoeuvre to challenge national regimes of austerity.
Against this background, we turn first to our initial presentation and discussion of the eight cities, focusing on Melbourne, Barcelona and Nantes, whose distinctive characteristics provide the parameters for the analysis of all the cases. We then examine and describe the cases of Athens, Baltimore, Dublin, Leicester and Montréal, analysed here as in Chapter 1 through the lens of austerity realism. Finally, we focus on the cities of Barcelona and Nantes, which we deem to be exemplary cases of cities that have most contributed to social and political change, both in terms of the development of creative governance arrangements, and with respect to the social movements and political groups that have emerged within and beyond the official spaces of politics. Our characterization and evaluation establish the potentials, limits and contingency of new urban struggles and politics, whose forms are shaped by a concatenation of variables at multiple levels of analysis, and we conclude by setting out the challenges faced by these incipient and in many cases fleeting forms.
The reality of austerity in our eight case study cities and elsewhere has been strongly shaped by a phenomenon, long studied by geographers and recognized across the social sciences as well as by practitioners in policy making, politics and activism: social, political and institutional spaces are structured through a hierarchy of spatial scales that is not pregiven but socially constructed. Emphasizing scale in this manner confirms an intuitive assumption we make on a daily basis – when we go to work from our home, or when we go on vacation – that ‘spaces across the world differ from one another’ (Brenner, 2009: 27). What might sound trivial, is an important marker in the way we understand the world around us. How, then, does scale matter specifically? We all know the concept of scale from the ways we use a map or a measuring tape. In this colloquial usage, we presuppose that there is a natural quality to the concept: we rely on its truth as given. If you use a map for a cycling trip, and its scale tells you that one centimetre on the map represents ten kilometres, you assume that if you plan a trip represented by five centimetres on the map, it means that the distance you will travel is, in fact, 50 kilometres in reality (never mind the hills and valleys).
While this ‘natural’ understanding of scale underlies its use in this chapter, we add to it the notion that scale in social life is, for the most part, not a given but socially constructed. Being part of the general vocabulary with which we seek to understand the uneven spatial development of modern society, scale reveals its true explanatory power when we realize that it is a plastic concept that is subject to interpretation and negotiation. When we use scale in this manner, we refer to ‘the vertical differentiation of social relations among, for instance, global, supranational, national, regional, urban and/or local levels’ (Brenner, 2009: 31). We say: scale is socially constructed and use participles such as ‘scaling’ or ‘rescaling’ to refer to the more or less intentional activity to shape this ‘vertical differentiation.’ Political decision makers and activists refer to the scale of government at which they want their action to count: the nation state, the region, the county, the municipality.