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Background Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was demonstrated in one large Australian family and this locus was designated spinocerebellar ataxia type 29. The objective of this study is to describe an unreported Canadian family with autosomal dominant congenital nonprogressive spinocerebellar ataxia and to identify the underlying genetic causes in this family and the original Australian family. Methods and Results Exome sequencing was performed for the Australian family, resulting in the identification of a heterozygous mutation in the ITPR1 gene. For the Canadian family, genotyping with microsatellite markers and Sanger sequencing of ITPR1 gene were performed; a heterozygous missense mutation in ITPR1 was identified. Conclusions ITPR1 encodes inositol 1,4,5-trisphosphate receptor, type 1, a ligand-gated ion channel that mediates calcium release from the endoplasmic reticulum. Deletions of ITPR1 are known to cause spinocerebellar ataxia type 15, a distinct and very slowly progressive form of cerebellar ataxia with onset in adulthood. Our study demonstrates for the first time that, in addition to spinocerebellar ataxia type 15, alteration of ITPR1 function can cause a distinct congenital nonprogressive ataxia; highlighting important clinical heterogeneity associated with the ITPR1 gene and a significant role of the ITPR1-related pathway in the development and maintenance of the normal functions of the cerebellum.

The police attend numerous domestic violence events each year, recording details of these events as both structured (coded) data and unstructured free-text narratives. Abuse types (including physical, psychological, emotional, and financial) conducted by persons of interest (POIs) along with any injuries sustained by victims are typically recorded in long descriptive narratives. We aimed to determine if an automated text mining method could identify abuse types and any injuries sustained by domestic violence victims in narratives contained in a large police dataset from the New South Wales Police Force. We used a training set of 200 recorded domestic violence events to design a knowledge-driven approach based on syntactical patterns in the text and then applied this approach to a large set of police reports. Testing our approach on an evaluation set of 100 domestic violence events provided precision values of 90.2% and 85.0% for abuse type and victim injuries, respectively. In a set of 492,393 domestic violence reports, we found 71.32% (351,178) of events with mentions of the abuse type(s) and more than one-third (177,117 events; 35.97%) contained victim injuries. \"Emotional/verbal abuse\" (33.46%; 117,488) was the most common abuse type, followed by \"punching\" (86,322 events; 24.58%) and \"property damage\" (22.27%; 78,203 events). \"Bruising\" was the most common form of injury sustained (51,455 events; 29.03%), with \"cut/abrasion\" (28.93%; 51,284 events) and \"red marks/signs\" (23.71%; 42,038 events) ranking second and third, respectively. The results suggest that text mining can automatically extract information from police-recorded domestic violence events that can support further public health research into domestic violence, such as examining the relationship of abuse types with victim injuries and of gender and abuse types with risk escalation for victims of domestic violence. Potential also exists for this extracted information to be linked to information on the mental health status.

Traumatic brain injury (TBI) may be a risk factor for criminal behaviour however multiple factors potentially confound the association. Record linkage and Cox proportional hazards regression analyses were used to examine the association between hospital-recorded TBI (n = 7,694) and subsequent first criminal conviction in a retrospective cohort matched 1:3 with 22,905 unaffected community controls and full-sibling controls (n = 2,397). Aboriginality, substance abuse, social disadvantage, and mental illness were included in analyses as potential confounders. In multivariable models, relative to general population controls, TBI was associated with any conviction (males: Hazard Ratio (HR) = 1.58 (95% CI 1.46 to 1.72); females: HR = 1.52 (95% CI 1.28 to 1.81)); and similar Hazard Ratios were obtained for the sibling analyses in males (HR = 1.68 (95% CI 1.31-2.18)) and females (HR 1.27 (95% CI 0.71-2.29)). TBI was also associated with violent convictions relative to the general population, (males: HR = 1.65 (95% CI 1.42 to 1.92); females HR = 1.73 (95% CI 1.21 to 2.47)), and in analyses with sibling controls in men (HR = 1.89 (95% CI 1.20-3.00)), but not in women (HR 0.73, 95% CI 0.29-1.81)). The results support a modest causal link between TBI and criminality after comprehensive adjustment for confounding. Reducing the rate of TBI, a major public health imperative, might have benefits in terms of crime reduction.

Background The olfactory bulb (OB) receives extensive cholinergic input from the basal forebrain and is affected very early in Alzheimer’s disease (AD). We speculated that an olfactory ‘stress test’ (OST), targeting the OB, might be used to unmask incipient AD. We investigated if change in olfactory performance following intranasal atropine was associated with several known antecedents or biomarkers of AD. Methods We measured change in performance on the University of Pennsylvania Smell Identification Test (UPSIT) in the left nostril before (20-items) and after (remaining 20-items) intranasal administration of 1 mg of atropine. We administered cognitive tests, measured hippocampal volume from MRI scans and recorded Apolipoprotein E genotype as indices relevant to underlying AD. Results In a convenience sample of 56 elderly individuals (14 probable AD, 13 cognitive impairment no dementia, 29 cognitively intact) the change in UPSIT score after atropine (‘atropine effect’ = AE) correlated significantly with demographically scaled episodic memory score (r = 0.57, p < 0.001) and left hippocampal volume (LHCV) (r = 0.53, p < 0.001). Among non-demented individuals (n = 42), AE correlated with episodic memory (r = 0.52, p < 0.001) and LHCV (r = 0.49, p < 0.001) and hierarchical linear regression models adjusted for age, gender, education, and baseline UPSIT showed that the AE explained more variance in memory performance (24%) than did LHCV (15%). The presence of any APOE ϵ4 allele was associated with a more negative AE (p = 0.014). Conclusions The OST using atropine as an olfactory probe holds promise as a simple, inexpensive screen for early and preclinical AD and further work, including longitudinal studies, is needed to explore this possibility.

Background Incarceration of adolescents is associated with a range of adverse outcomes, yet high-quality evidence comparing its effectiveness to non-custodial alternatives is limited. We compared mental health diversion, community-based legal orders, and custodial sentencing in reducing reoffending among justice-involved adolescents. We conducted a population-based retrospective cohort study using linked health and justice records from New South Wales, Australia, including all adolescents aged 10 to 17 years with a conviction between an index court finalization between 2 July 2001 and 24 December 2020. The primary outcome was first proven reoffending within 12 months following first court finalization in adolescence. Results Among 53,605 justice-involved adolescents, 2,171 (4.0%) received mental health diversion, 44,887 (83.8%) community orders, and 6,547 (12.2%) custodial sentences. Standardized any-reoffending risk was 47.2% under diversion, 56.6% under community orders, and 64.5% under custody. Diversion was associated with an absolute risk difference of − 17.7% points compared with custody (95% CI − 23.2 to − 12.1) and − 9.9% points compared with community orders (95% CI − 14.9 to − 4.1). The risk difference for community orders compared with custody was − 7.8% points (95% CI − 12.8 to − 3.3). Reduction in reoffending under diversion were greatest among adolescents with disruptive behavioural disorders (− 26.5% points, 95% CI − 34.9 to − 18.3), mood disorders (− 22.9% points, 95% CI − 37.2 to − 6.4), and intellectual disability (− 38.0% points compared with community orders, 95% CI − 60.0 to − 14.5). Conclusions Mental health diversion and community orders reduced reoffending risk compared with custody. Effects were greatest among adolescents with disruptive behavioural disorders, mood disorders, and intellectual disability. These findings support the use of non-custodial sentencing for justice-involved adolescents with mental health disorders and indicate that those with neurodevelopmental and externalizing presentations may benefit most.

IntroductionConsiderable evidence supports an association between poor impulse control (impulsivity) and violent crime. Furthermore, impulsivity and aggression has been associated with reduced levels of serotonergic activity in the brain. Selective serotonin reuptake inhibitors (SSRIs) are a class of anti­depressants that aim to regulate brain serotonin concentrations. Several small studies in psychiatric populations have administered SSRIs to impulsive­–aggressive individuals, resulting in reduced impulsivity, anger, aggression and depression. However, no clinical trial has been undertaken in a criminal justice population. This protocol describes the design and implementation of the first systematic study of the potential benefits of SSRIs in impulsive­­–violent offenders who are at high risk of reoffending.Methods and analysisA randomised, double-blinded, multicentre trial to test the clinical efficacy of an SSRI, sertraline hydrochloride, compared with placebo on recidivism and behavioural measures (including impulsivity, anger, aggression, depression and self-reported offending) over 12 months. 460 participants with histories of violence and screening positive for impulsivity are recruited at several local courts and correctional service offices in New South Wales, Australia.Ethics and disseminationResults will be submitted for publication in a peer-reviewed journal. Possible implications of the effectiveness of this pharmacological intervention include economic benefits of reducing prison costs and societal benefits of improving safety. This study has received ethical approval from the University of New South Wales, Aboriginal Health & Medical Research Council, Corrective Services NSW and the NSW Justice Health and Forensic Mental Health Network.Trial registration numberACTRN12613000442707.

Game-based cognitive assessments (GBCAs) have the potential to transform the field of cognitive testing by enabling more effective screening of age-related cognitive decline. However, we lack a strong understanding of the usability and overall user experience of these games. This is a risk because the primary target users for GBCAs, older people, are seldom involved in game design research and development. This study aims to address this gap by investigating the usability, acceptability, and enjoyability of GBCAs for older people. This study followed established practices for undertaking evidence-based systematic reviews. The initial database search returned 15,232 records. After a thorough screening process, 8 studies remained for extraction and analysis. A synthesis of the included papers identified 2 overlapping yet distinct areas of focus: system usability and subjective user experience. Usability scores were mostly positive across the studies included. However, in several of the game studies, older adults and those with cognitive impairment tended to find GBCAs less usable. This trend was observed even when the games were explicitly designed for these populations, and the tasks were simplistic and representative of basic daily activities. In our second focus area, user experience, we identified the importance of perceived challenge in mediating gameplay experience across groups. That is, generating the appropriate level of difficulty for each user is important for positive user experiences, specifically enjoyment. On the basis of these findings, we identified key learnings for researchers interested in designing and developing GBCAs. These include (1) recognizing that validity is essential but not sufficient on its own; (2) clearly defining the intended user; (3) designing games that align with the unique preferences and needs of older people; and (4), whenever possible, providing each user with their optimal level of challenge. PROSPERO CRD42023433298; https://www.crd.york.ac.uk/PROSPERO/view/CRD42023433298.

BackgroundMental health services are available for young people involved with the criminal justice system. However, they have unmet mental health needs after the expiration of criminal justice supervision.ObjectiveTo determine the incidence rate and identify predictors of psychiatric hospitalisations within 24 months after the expiration of criminal justice supervision among young people involved with the New South Wales (NSW) criminal justice system.MethodsRetrospective data from 1556 individuals aged 14–22 years who participated in four surveys of justice-involved young people in NSW were harmonised and linked to four NSW data collections. We calculated the incidence rates of psychiatric hospitalisations within 24 months postsupervision and identified predictors of these hospitalisations using a competing risks regression analysis.ResultsWithin 24 months postsupervision, 11.4% had a psychiatric hospitalisation compared with 3.5% during supervision. 20.7% of those admitted had a known history of mental illness and engaged with community-based and outpatient mental health services postsupervision. Predictors of psychiatric hospitalisations were: female sex (adjusted subdistribution HR (asHR) 1.84, 95% CI 1.24 to 2.73); previous incarceration (highest asHR for ≥4 episodes 1.67, 95% CI 1.01 to 2.78); head injury (asHR 1.63, 95% CI 1.20 to 2.21); personality disorder (asHR 3.66, 95% CI 2.06 to 6.48) and alcohol and substance use disorder (asHR 1.89, 95% CI 1.29 to 2.77).ConclusionJustice-involved youth have higher rates of psychiatric admissions after criminal justice supervision. Engagement with mental health services postsupervision is important in addressing emerging or persisting mental health needs.

Background Interventions to better manage aggressive behaviour and reduce recidivism are a primary concern for corrective services. Nutritional interventions to correct prisoner behaviour have been largely overlooked in the literature. Emerging evidence suggests that dietary intake influences aggressive behaviours and that nutritional supplementation with omega-3 long chain polyunsaturated fatty acids (n-3 LCPUFA) could attenuate both the severity and frequency of aggressive behaviour. Methods Adult male prisoners who have a history of aggressive behaviour ( n  = 600) will be recruited from at least 6 Correctional Centres and randomised to receive either n-3 LCPUFA or placebo supplementation for a 16-week duration. Treatment will be with either 1 g/day of n-3 LCPUFA (694 mg DHA and 397 mg EPA) or placebo capsules, which are a corn/soy oil blend and are identical in size and colour. The primary outcome measure is the Inmate Behavioural Observation Scale (IBOS): an objective measure of aggressive behaviour. Secondary outcome measures include questionnaires (including aggression, attention deficit disorder, impulsivity, depression/anxiety/stress scales), engagement in programmes, recidivism and quality of life. Baseline and post-intervention assessments include the IBOS, questionnaires and blood to measure the levels of n-3 LCPUFA. Discussion To conclusively test the potential that increasing n-3 LCPUFA intakes can improve rates of prisoner aggression and associated mental health and violence-related social system management costs, we propose an adequately powered multi-centre, double-blind, randomised controlled trial, examining the effects of n-3 LCPUFA supplementation on aggressive behaviour in adult male prisoners. If successful, this study will inform prisoner policy with respect to nutrition and by inference contribute to a broader community approach to preventative mental health practices. Trial registration Australian New Zealand Clinical Trial Registry (ANZCTR) ACTRN12618001665224 . Registered on 10 October 2018.