Development of a nutrition and physical activity booklet to engage seniors

<p>Abstract</p> <p>Background</p> <p>This paper describes the development and process evaluation of an interactive booklet aimed at motivating older adults to improve their nutrition and physical activity.</p> <p>Findings</p> <p>The booklet was developed in consultation with seniors via focus groups, individual interviews and self administered questionnaires. The booklet was disseminated to a group of 114 seniors as the main component of a 12-week intervention program. Process evaluation was conducted during and at the end of the intervention period.</p> <p>A large proportion of participants (86%) were engaged in the program in that they had, as a minimum, read the booklet. The majority of the participants found the booklet provided them with useful and interesting advice in an easy-to-read and informative manner. Three quarters (76%) reported the materials to be motivating and increased their awareness of nutrition and physical activity, while 79% intended to continue with changes to their physical activity and diet after the program concluded.</p

Epilepsy, anti-seizure medication, intellectual disability and challenging behaviour – Everyone’s business, no one’s priority

Purpose People with Intellectual Disability (ID) and epilepsy are more likely to experience psychiatric conditions, challenging behaviour (CB), treatment resistance and adverse effects of anti-seizure medications (ASM) than those without. This population receives care from various professionals, depending on local care pathways. This study evaluates the training status, confidence, reported assessment and management practices of different professional groups involved in caring for people with ID, epilepsy and CB. Methods A cross sectional survey using a questionnaire developed by expert consensus which measured self-reported training status, confidence, and approaches to assessment and management of CB in people with ID and epilepsy was distributed to practitioners involved in epilepsy and/or ID. Results Of the 83 respondents, the majority had either a psychiatry/ID (n = 39), or Neurology/epileptology background (n = 31). Psychiatry/ID and Neurology/epileptology had similar confidence in assessing CB in ID-epilepsy cases, but Psychiatry/ID exhibited higher self-rated confidence in the management of these cases. While assessing and managing CB, Psychiatry/ID appeared more likely to consider mental health aspects, while Neurology/epileptology typically focused on ASM. Conclusion Psychiatry/ID and Neurology/epileptology professionals had varying training levels in epilepsy, ID and CB, had differing confidence levels in managing this patient population, and considered different factors when approaching assessment and management. As such, training opportunities in ID should be offered to neurology professionals, and vice versa. Based on the findings, a best practice checklist is presented, which aims to provide clinicians with a structured framework to consider causal explanations for CB in this population

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

Objective: We aimed to describe the extent of neurodevelopmental impairments andidentify the genetic etiologies in a large cohort of patients with epilepsy with myoclonicatonic seizures (MAE).Methods: We deeply phenotyped MAE patients for epilepsy features, intellectualdisability, autism spectrum disorder, and attention-deficit/hyperactivity disorderusing standardized neuropsychological instruments. We performed exome analysis(whole exome sequencing) filtered on epilepsy and neuropsychiatric gene sets toidentify genetic etiologies.Results: We analyzed 101 patients with MAE (70% male). The median age of seizureonset was 34 months (range = 6-72 months). The main seizure types were myoclonicatonic or atonic in 100%, generalized tonic-clonic in 72%, myoclonic in 69%, absencein 60%, and tonic seizures in 19% of patients. We observed intellectual disability in62% of patients, with extremely low adaptive behavioral scores in 69%. In addition,24% exhibited symptoms of autism and 37% exhibited attention-deficit/hyperactivitysymptoms. We discovered pathogenic variants in 12 (14%) of 85 patients, includingfive previously published patients. These were pathogenic genetic variants inSYNGAP1 (n = 3), KIAA2022 (n = 2), and SLC6A1 (n = 2), as well as KCNA2,SCN2A, STX1B, KCNB1, and MECP2 (n = 1 each). We also identified three newcandidate genes, ASH1L, CHD4, and SMARCA2 in one patient each.Significance: MAE is associated with significant neurodevelopmental impairment.MAE is genetically heterogeneous, and we identified a pathogenic genetic etiologyin 14% of this cohort by exome analysis. These findings suggest that MAE is a manifestationof several etiologies rather than a discrete syndromic entity

Next-Generation Sequencing of Apoptotic DNA Breakpoints Reveals Association with Actively Transcribed Genes and Gene Translocations

DNA fragmentation is a well-recognized hallmark of apoptosis. However, the precise DNA sequences cleaved during apoptosis triggered by distinct mechanisms remain unclear. We used next-generation sequencing of DNA fragments generated in Actinomycin D-treated human HL-60 leukemic cells to generate a high-throughput, global map of apoptotic DNA breakpoints. These data highlighted that DNA breaks are non-random and show a significant association with active genes and open chromatin regions. We noted that transcription factor binding sites were also enriched within a fraction of the apoptotic breakpoints. Interestingly, extensive apoptotic cleavage was noted within genes that are frequently translocated in human cancers. We speculate that the non-random fragmentation of DNA during apoptosis may contribute to gene translocations and the development of human cancers

Older People with Learning Disabilities: Workforce Issues

The life expectancy of people with learning disabilities has increased substantially. Services for older people with learning disabilities are provided by various sectors and practitioners (generic health and social care, or specialist learning disability or old age). The literature suggests that practitioners do not feel well-equipped to support people with learning disabilities as they grow older, and older people's services do not always have the opportunity to share experiences and skills. This paper highlights areas such as dementia support, where the intersection between services is not clear, and explores what might help practitioners to meet the needs of people with learning disabilities as they grow older

Comparing recent PTA results on the nanohertz stochastic gravitational wave background

The Australian, Chinese, European, Indian, and North American pulsar timing array (PTA) collaborations recently reported, at varying levels, evidence for the presence of a nanohertz gravitational wave background (GWB). Given that each PTA made different choices in modeling their data, we perform a comparison of the GWB and individual pulsar noise parameters across the results reported from the PTAs that constitute the International Pulsar Timing Array (IPTA). We show that despite making different modeling choices, there is no significant difference in the GWB parameters that are measured by the different PTAs, agreeing within $1\sigma$. The pulsar noise parameters are also consistent between different PTAs for the majority of the pulsars included in these analyses. We bridge the differences in modeling choices by adopting a standardized noise model for all pulsars and PTAs, finding that under this model there is a reduction in the tension in the pulsar noise parameters. As part of this reanalysis, we "extended" each PTA's data set by adding extra pulsars that were not timed by that PTA. Under these extensions, we find better constraints on the GWB amplitude and a higher signal-to-noise ratio for the Hellings and Downs correlations. These extensions serve as a prelude to the benefits offered by a full combination of data across all pulsars in the IPTA, i.e., the IPTA's Data Release 3, which will involve not just adding in additional pulsars, but also including data from all three PTAs where any given pulsar is timed by more than as single PTA.Comment: 21 pages, 9 figures, submitted to Ap

Comparing Recent Pulsar Timing Array Results on the Nanohertz Stochastic Gravitational-wave Background

The Australian, Chinese, European, Indian, and North American pulsar timing array (PTA) collaborations recently reported, at varying levels, evidence for the presence of a nanohertz gravitational-wave background (GWB). Given that each PTA made different choices in modeling their data, we perform a comparison of the GWB and individual pulsar noise parameters across the results reported from the PTAs that constitute the International Pulsar Timing Array (IPTA). We show that despite making different modeling choices, there is no significant difference in the GWB parameters that are measured by the different PTAs, agreeing within 1σ. The pulsar noise parameters are also consistent between different PTAs for the majority of the pulsars included in these analyses. We bridge the differences in modeling choices by adopting a standardized noise model for all pulsars and PTAs, finding that under this model there is a reduction in the tension in the pulsar noise parameters. As part of this reanalysis, we "extended" each PTA's data set by adding extra pulsars that were not timed by that PTA. Under these extensions, we find better constraints on the GWB amplitude and a higher signal-to-noise ratio for the Hellings–Downs correlations. These extensions serve as a prelude to the benefits offered by a full combination of data across all pulsars in the IPTA, i.e., the IPTA's Data Release 3, which will involve not just adding in additional pulsars but also including data from all three PTAs where any given pulsar is timed by more than a single PTA