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Sudden unexpected death in Epilepsy (SUDEP) is one of the leading causes of death in people with epilepsy (PWE). Awareness and taking adequate preventive measures are pivotal to reducing SUDEP. Nearly 80% of PWE live in lower-middle-income countries (LMICs) such as India where for many, epilepsy management is by psychiatrists. To evaluate the knowledge, attitude and practices of Indian psychiatrists on SUDEP and seizure risk. A cross-sectional online survey of 12 Likert response questions using validated themes, was circulated among Indian Psychiatric Society members. Non-discriminatory exponential snowballing technique leading to convenience non-probability sampling was used. The inquiry involved SUDEP-related topics including the need for and importance of counselling. Descriptive statistics and the chi-square test were used for analysis. The psychiatrists responding (n = 134) were likely to be males (72.4 %), urban (94 %) and affiliated to academic institutions (76.1 %). Nearly all saw PWE monthly with over half (54 %) seeing more than 10. Nearly two-third (64.17 %) did not counsel PWE regarding SUDEP, due to fear of raising concerns in caregivers/family (33.3 %), patients (38.9 %) or lack of time (35.6 %), though 37 % had lost patients due to SUDEP. Over two-third (66.7 %) agreed risk counselling was important. Barriers included fear of raising concerns, limited time, and training. A strong need for national SUDEP guidelines (89 %) and suitable training (75.4 %) was expressed. Though epilepsy care is provided by a considerable number of psychiatrists, there is a poor understanding of SUDEP. Enhancing the awareness and understanding of SUDEP is likely to enhance epilepsy care.
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INTRODUCTION: There is increased focus on the negative impact of the overprescribing of medication, specifically psychotropic medication, including anti-seizure medications (ASM), in people with Intellectual Disability (ID). This is particularly important for the older adult population, where multi-morbidity and polypharmacy are more common. ASMs are associated with psychiatric and behavioral adverse effects. Furthermore, there is growing awareness of the anticholinergic burden for older adults with epilepsy and ID and the relationship with behaviors that challenge (BtC). AREAS COVERED: This review defines the older adult population and outlines the relationship between epilepsy and ID. BtC is outlined in the context of the population and the relationship with ASMs. The evidence base to guide prescribing and de-prescribing for newer ASMs is also presented, including pragmatic data. EXPERT OPINION: Polypharmacy, particularly psychotropics, are a mortality risk factor for older adults with epilepsy and ID. Therefore, any BtC requires a holistic assessment with a multi-disciplinary approach. This includes specific consideration of all prescribed medicines in the context of polypharmacy. There should be routine reviews, at least annually, for those aged 40 years and over particularly focused on anticholinergic burden and/or polypharmacy.
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INTRODUCTION: The aim of the paper is to establish the requirements and methodology for the development and implementation of a recommender system for mental health apps to support patients in self-managing their mental health while awaiting formal treatment. METHODS: The system was developed using an algorithm-based approach, including: (1) user needs assessment through literature review and interviews with various stakeholders, (2) software modelling and prototype creation, and (3) bench testing of the prototype with health experts and users. RESULTS: Based on initial exploration of users' requirements, relevant standards and regulations, a library of trusted mental health apps was compiled and a recommendation engine was built to generate accurate user profiles and deliver personalised health recommendations, which will be further tested to ensure quality. CONCLUSION: Developing a constructive mental health recommendation system requires the establishment of clear and comprehensive requirements, as well as a robust methodology adressing concerns related to data security, confidentiality, safety, and reliability. Subsequent research may compare various indicators of mental health outcomes at the start and end of patients' waiting period to gain more insights into how the recommender system could be further improved to enhance user experience and their overall well-being.
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Aplicativos Móveis , Humanos , Autocuidado , Transtornos Mentais/terapia , Design de Software , Algoritmos , Saúde MentalRESUMO
BACKGROUND: Human rhinoviruses (RV) primarily cause the common cold, but infection outcomes vary from subclinical to severe cases, including asthma exacerbations and fatal pneumonia in immunocompromised individuals. To date, therapeutic strategies have been hindered by the high diversity of serotypes. Global surveillance efforts have traditionally focused on sequencing VP1 or VP2/VP4 genetic regions, leaving gaps in our understanding of RV genomic diversity. METHODS: We sequenced 1,078 RV genomes from nasal swabs of symptomatic and asymptomatic individuals to explore viral evolution during two epidemiologically distinct periods in Washington State: when the COVID-19 pandemic affected the circulation of other seasonal respiratory viruses except for RV (February - July 2021), and when the seasonal viruses reemerged with the severe RSV and influenza outbreak (November-December 2022). We constructed maximum likelihood and BEAST-phylodynamic trees to characterize intra-genotype evolution. RESULTS: We detected 99 of 168 known genotypes and observed inter-genotypic recombination and genotype cluster swapping from 2021 to 2022. We found a significant association between the presence of symptoms and viral load, but not with RV species or genotype. Phylodynamic trees, polyprotein selection pressure, and Shannon entropy revealed co-circulation of divergent clades within genotypes with high amino acid constraints throughout polyprotein. DISCUSSION: Our study underscores the dynamic nature of RV genomic epidemiology within a localized geographic region, as more than 20% of existing genotypes within each RV species co-circulated each studied month. Our findings also emphasize the importance of investigating correlations between rhinovirus genotypes and serotypes to understand long-term immunity and cross-protection.
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BACKGROUND: Sublime is a centuries old concept of emergent experience arising from immense and threatening awareness provoked by overwhelming fear and dread when faced with an incomprehensible situation as is common to autistic people. Extended Reality (XR) technologies have been used since the mid-1990s, in regulating emotions, behaviour and supporting social skill development for autistic people. AIMS: To understand utility of XR technologies in creating immersive experiences for autistic people to alleviate anxiety and the relationship to the sublime. METHOD: A State of the Art literature review and narrative synthesis was conducted. PubMed, CINAHL, EMBASE, Cochrane Library, Scopus, Web of Science were searched with terms Autism AND Technology. In addition, fields of digital technologies and wellbeing, digital art and mental health, generative arts and the sublime were explored through web searches of grey literature, conversations with digital designers and explorations of extended reality platforms. No time limits were placed. Searches were done in English. Papers were screened and shortlisted using the inclusion criteria applied by two reviewers. RESULTS: Fifty-eight papers/articles met the preliminary inclusion criteria for in-depth review of which 31 were found suitable for the narrative synthesis related to XR technologies and sublime experiences as related to autistic people. Narrative synthesis lent itself to four themes that is current utility of XR Technologies in autism, the impact of immersive experiences on Behavioural, phenomenological and biological markers of autistic people, the Benefits of increased sensory stimulation using XR on autism and an inquiry into the potential of the sublime for autism. CONCLUSIONS: Mixed reality environments that experiment with a broad range of XR technologies including incorporating notions of the sublime, might be beneficial in reducing emotional dysregulation and improving social development in autistic people especially if co-designed with them.
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BACKGROUND AND PURPOSE: Sudden unexpected death in epilepsy (SUDEP) is a leading cause of epilepsy mortality. All international guidance strongly advocates for clinicians working with people with epilepsy (PWE) to discuss SUDEP. Clinician views working with PWE in the UK and Norway on SUDEP counselling are compared. METHODS: A cross-sectional online mixed methodology survey of 17 Likert and free-text response questions using validated themes was circulated via International League against Epilepsy/Epilepsy Specialist Nurses Association in the UK and International League against Epilepsy/Epilepsinet in Norway using a non-discriminatory exponential snowballing technique leading to non-probability sampling. Quantitative data were analysed using descriptive statistics and Mann-Whitney, Kruskal-Wallis, chi-squared and Fisher's exact tests. Significance was accepted at p < 0.05. Thematic analysis was conducted on free-text responses. RESULTS: Of 309 (UK 197, Norway 112) responses, UK clinicians were more likely to have experienced an SUDEP (p < 0.001), put greater importance on SUDEP communication (p < 0.001), discuss SUDEP with all PWE particularly new patients (p < 0.001), have access and refer to bereavement support (p < 0.001) and were less likely to never discuss SUDEP (p < 0.001). Significant differences existed between both countries' neurologists and nurses in SUDEP counselling with UK clinicians generally being more supportive. UK responders were more likely to be able to identify bereavement support (p < 0.001). Thematic analysis highlighted four shared themes and two specific to Norwegians. DISCUSSION: Despite all international guidelines stating the need/importance to discuss SUDEP with all PWE there remain hesitation, avoidance and subjectivity in clinicians having SUDEP-related conversations, more so in Norway than the UK. Training and education are required to improve communication, engagement and decision making.
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Atitude do Pessoal de Saúde , Aconselhamento , Epilepsia , Morte Súbita Inesperada na Epilepsia , Humanos , Reino Unido/epidemiologia , Noruega/epidemiologia , Estudos Transversais , Epilepsia/mortalidade , Masculino , Feminino , Adulto , Inquéritos e QuestionáriosRESUMO
Valproate is the most effective medication for generalised epilepsies, and several specific epilepsy syndromes. For some people, it will be the only medication to establish seizure remission, and withdrawing it carries risks of seizure recurrence and Sudden Unexpected Death in Epilepsy (SUDEP). It is also of proven efficacy for bipolar disorder and migraine prevention. Guidelines based on observational and epidemiological studies stress that maternal valproate related teratogenicity and neurodevelopmental effects are significantly higher than for other antiseizure medications (ASMs). It should, therefore, only be used if other medications are ineffective and after balancing the teratogenicity risk. Regulatory restrictions have changed prescribing practices and reduced valproate use. The number of other medications that must be trialled in the different conditions for which valproate has effectiveness and the consequences of the lack of efficacy of those drugs leading to significant harm including death remains unexplored. Risk minimisation measures (RMMs) for valproate, chiefly Pregnancy Prevention practices (PPP), consider foetal risk and not risk to people living with epilepsy. In the United Kingdom (UK), limitations relating to valproate use in all people < 55 years commenced in January 2024. While the evidence in child-bearing women is not disputed, the data in males are based on animal models, case reports, and one commissioned, unpublished, non-peer reviewed report unavailable to the UK public, stakeholder charities or professionals. Evidence suggests that 30-40% of people switching from valproate have breakthrough seizures. Thus, an estimated 21,000-28000 people in the UK will imminently be exposed to the potential hazards of breakthrough seizures, including death. There is little government investment in monitoring the effects of these changes to valproate prescribing on patient health and quality of life. This review summarises the history of valproate regulation, evidence underpinning it and argues how the latest regulations in the UK do not align with the country's medical regulatory bodies ethical principles nor with the Montgomery principles of informed patient choice and autonomy. It dissects how such regulations infringe Common Law principles, nor give due regard for patient outcomes beyond reproduction. The paper looks to provide recommendations to redress these concerns while appreciating the core need for such governance to emerge in the first place.
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Anticonvulsivantes , Ácido Valproico , Humanos , Ácido Valproico/efeitos adversos , Ácido Valproico/uso terapêutico , Anticonvulsivantes/efeitos adversos , Convulsões/tratamento farmacológico , Epilepsia/tratamento farmacológico , Gravidez , FemininoRESUMO
INTRODUCTION: In England, nearly a quarter of people with intellectual disability (PwID) have epilepsy. Though 70 % of PwID have pharmaco-resistant seizures only 10 % are prescribed anti-seizure medication (ASMs) licenced for pharmaco-resistance. Brivaracetam (BRV) licenced in 2016 has had nine post-marketing studies involving PwID. These studies are limited either by lack of controls or not looking at outcomes based on differing levels of ID severity. This study looks at evidence comparing effectiveness and side-effects in PwID to those without ID prescribed Brivaracetam (BRV). METHODS: Pooled case note data for patients prescribed BRV (2016-2022) at 12 UK NHS Trusts were analysed. Demographics, starting and maximum dose, side-effects, dropouts and seizure frequency between ID (mild vs. moderate-profound (M/P)) and general population for a 12-month period were compared. Descriptive analysis, Mann-Whitney, Fisher's exact and logistic regression methods were employed. RESULTS: 37 PwID (mild 17 M/P 20) were compared to 102 without ID. Mean start and maximum dose was lower for PwID than non-ID. Mean maximum dose reduced slightly with ID severity. No difference was found between ID and non-ID or between ID groups (Mild vs M/P) in BRV's efficacy i.e. >50 % seizure reduction or tolerability. Mental and behavioural side-effects were more prevalent for PwID (27.0 % ID, 17.6 % no ID) but not significantly higher (P = 0.441) or associated with ID severity (p = 0.255). CONCLUSION: This is the first study on BRV, which compares ID cohorts with differing severity and non-ID. Efficacy, tolerability and side-effects reported are similar across differing ID severity to those with no ID.
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Anticonvulsivantes , Deficiência Intelectual , Pirrolidinonas , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/tratamento farmacológico , Masculino , Feminino , Anticonvulsivantes/uso terapêutico , Anticonvulsivantes/efeitos adversos , Adulto , Pessoa de Meia-Idade , Pirrolidinonas/uso terapêutico , Pirrolidinonas/efeitos adversos , Adulto Jovem , Resultado do Tratamento , Epilepsia/tratamento farmacológico , Idoso , AdolescenteRESUMO
INTRODUCTION: People with Intellectual Disabilities (PwID) are twenty times more likely than general population to have epilepsy. Guidance for prescribing antiseizure medication (ASM) to PwID is driven by trials excluding them. Levetiracetam (LEV) is a first-line ASM in the UK. Concerns exist regarding LEV's behavioural and psychological adverse effects, particularly in PwID. There is no high-quality evidence comparing effectiveness and adverse effects in PwID to those without, prescribed LEV. METHODS: Pooled casenote data for patients prescribed LEV (2000-2020) at 18 UK NHS Trusts were analysed. Demographics, starting and maximum dose, adverse effects, dropouts and seizure frequency between ID (mild vs. moderate-profound (M/P)) and general population for a 12-month period were compared. Descriptive analysis, Mann-Whitney, Fisher's exact and logistic regression methods were employed. RESULTS: 173 PwID (mild 53 M/P 120) were compared to 200 without ID. Mean start and maximum dose were similar across all groups. PwID (Mild & M/P) were less likely to withdraw from treatment (P = 0.036). No difference was found between ID and non-ID or between ID groups (Mild vs M/P) in LEV's efficacy i.e. >50 % seizure reduction. Significant association emerged between ID severity and psychiatric adverse effects (P = 0.035). More irritability (14.2 %) and aggression (10.8 %) were reported in M/P PwID. CONCLUSION: PwID and epilepsy have high rates of premature mortality, comorbidities, treatment resistance and polypharmacy but remain poorly researched for ASM use. This is the largest studied cohort of PwID trialled on LEV compared to general population controls. Findings support prescribing of LEV for PwID as a first-line ASM.
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Anticonvulsivantes , Epilepsia , Deficiência Intelectual , Levetiracetam , Humanos , Levetiracetam/efeitos adversos , Levetiracetam/uso terapêutico , Anticonvulsivantes/efeitos adversos , Anticonvulsivantes/uso terapêutico , Deficiência Intelectual/tratamento farmacológico , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Estudos de Casos e Controles , Epilepsia/tratamento farmacológico , Adulto Jovem , Idoso , Resultado do Tratamento , AdolescenteRESUMO
OBJECTIVE: This study was undertaken to validate a set of candidate biomarkers of seizure susceptibility in a retrospective, multisite case-control study, and to determine the robustness of these biomarkers derived from routinely collected electroencephalography (EEG) within a large cohort (both epilepsy and common alternative conditions such as nonepileptic attack disorder). METHODS: The database consisted of 814 EEG recordings from 648 subjects, collected from eight National Health Service sites across the UK. Clinically noncontributory EEG recordings were identified by an experienced clinical scientist (N = 281; 152 alternative conditions, 129 epilepsy). Eight computational markers (spectral [n = 2], network-based [n = 4], and model-based [n = 2]) were calculated within each recording. Ensemble-based classifiers were developed using a two-tier cross-validation approach. We used standard regression methods to assess whether potential confounding variables (e.g., age, gender, treatment status, comorbidity) impacted model performance. RESULTS: We found levels of balanced accuracy of 68% across the cohort with clinically noncontributory normal EEGs (sensitivity =61%, specificity =75%, positive predictive value =55%, negative predictive value =79%, diagnostic odds ratio =4.64, area under receiver operated characteristics curve =.72). Group level analysis found no evidence suggesting any of the potential confounding variables significantly impacted the overall performance. SIGNIFICANCE: These results provide evidence that the set of biomarkers could provide additional value to clinical decision-making, providing the foundation for a decision support tool that could reduce diagnostic delay and misdiagnosis rates. Future work should therefore assess the change in diagnostic yield and time to diagnosis when utilizing these biomarkers in carefully designed prospective studies.
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Eletroencefalografia , Epilepsia , Humanos , Eletroencefalografia/métodos , Feminino , Estudos Retrospectivos , Masculino , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Estudos de Casos e Controles , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Adolescente , Idoso , Criança , Biomarcadores , Pré-Escolar , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: People with epilepsy are at increased risk of multiple co-morbidities that may influence risk of adverse outcomes including impact on quality of life and premature mortality. These risk factors include potentially modifiable clinical characteristics associated with sudden unexpected death in epilepsy (SUDEP). For services to tackle risk, the clinical complexity of the target epilepsy population needs to be defined. While this has been comprehensively studied in large, economically developed countries little knowledge of these issues exist in small economically developed countries, like Malta (population: 500,000). METHODS: This was a single centre study focused exclusively on patients attending Gozo General Hospital (GGH) Malta. STROBE guidance for reporting cross sectional studies was used to design and report the study. This was a retrospective review of standard care and SUDEP and seizure risks provided to all adults (over 18 years) with epilepsy attending GGH (2018-2021). RESULTS: The review identified 68 people and 92% were compliant with their anti-seizure medication. A fifth (21%) had an intellectual disability. Despite only one patient having a psychotic illness, 19% were on antipsychotic medication. Only 18% of patients had a specific epilepsy care plan, 6% nocturnal surveillance and none had received advice on SUDEP. DISCUSSION: Patient outcomes may be improved with increasing rates of personalized epilepsy care plans, appropriate nocturnal surveillance and reducing the prescription of antipsychotic medication as it is associated with greater risk of mortality. Issues such as stigma and shame appear to play a significant role in small communities and their access to care.
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Comorbidade , Epilepsia , Humanos , Epilepsia/epidemiologia , Epilepsia/complicações , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Estudos Retrospectivos , Malta/epidemiologia , Adulto Jovem , Estudos Transversais , Anticonvulsivantes/uso terapêutico , Idoso , Fatores de Risco , Morte Súbita Inesperada na Epilepsia/epidemiologia , AdolescenteRESUMO
BACKGROUND: A quarter of People with Intellectual Disabilities (PwID) have epilepsy compared with 1% of the general population. Epilepsy in PwID is a bellwether for premature mortality, multimorbidity and polypharmacy. This group depends on their care provider to give relevant information for management, especially epilepsy. There is no research on care status relationship and clinical characteristics of PwID and epilepsy. AIM: Explore and compare the clinical characteristics of PwID with epilepsy across different care settings. METHOD: A retrospective multicentre cohort study across England and Wales collected information on seizure characteristics, intellectual disability severity, neurodevelopmental/biological/psychiatric comorbidities, medication including psychotropics/anti-seizure medication, and care status. Clinical characteristics were compared across different care settings, and those aged over and younger than 40 years. RESULTS: Of 618 adult PwID across six centres (male:female = 61%:39%), 338 (55%) received professional care whereas 258 (42%) lived with family. Significant differences between the care groups existed in intellectual disability severity (P = 0.01), autism presence (P < 0.001), challenging behaviour (P < 0.001) and comorbid physical conditions (P = 0.008). The two groups did not vary in intellectual disability severity/genetic conditions/seizure type and frequency/psychiatric disorders. The professional care cohort experienced increased polypharmacy (P < 0.001) and antipsychotic/psychotropic use (P < 0.001/P = 0.008).The over-40s cohort had lower autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) comorbidity (P < 0.001/P = 0.007), increased psychiatric comorbidity and challenging behaviour (P < 0.05), physical multimorbidity (P < 0.001), polypharmacy (P < 0.001) and antipsychotic use (P < 0.001) but reduced numbers of seizures (P = 0.007). CONCLUSION: PwID and epilepsy over 40 years in professional care have more complex clinical characteristics, increased polypharmacy and antipsychotic prescribing but fewer seizures.
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BACKGROUND: Constipation is overrepresented in people with intellectual disabilities. Around 40% of people with intellectual disabilities who died prematurely were prescribed laxatives. A quarter of people with intellectual disabilities are said to be on laxatives. There are concerns that prescribing is not always effective and appropriate. There are currently no prescribing guidelines specific to this population. AIMS: To develop guidelines to support clinicians with their decision-making when prescribing laxatives to people with intellectual disabilities. METHOD: A modified Delphi methodology, the RAND/UCLA Appropriateness Method, was used. Step 1 comprised development of a bespoke six-item, open-ended questionnaire from background literature and its external validation. Relevant stakeholders, including a range of clinical experts and experts by experience covering the full range of intellectual disability and constipation, were invited to participate in an expert panel. Panel members completed the questionnaire. Responses were divided into 'negative consensus' and 'positive consensus'. Members were then invited to two panel meetings, 2 weeks apart, held virtually over Microsoft Teams, to build consensus. The expert-by-experience group were included in a separate face-to-face meeting. RESULTS: A total of 20 people (ten professional experts and ten experts by experience, of whom seven had intellectual disability) took part. There were five main areas of discussion to reach a consensus i.e. importance of diagnosis, the role of prescribing, practicalities of medication administration, importance of reviewing and monitoring, and communication. CONCLUSIONS: Laxative prescribing guidelines were developed by synthesising the knowledge of an expert panel including people with intellectual disabilities with the existing evidence base, to improve patient care.
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BACKGROUND: Recovery colleges provide personalised educational mental health support for people who self-refer. The research evidence supporting them is growing, with key components and the positive experiences of attendees reported. However, the quantitative outcome evidence and impact on economic outcomes is limited. AIMS: To evaluate the impact of attending a UK recovery college for students who receive a full educational intervention. METHOD: This is a pre- and post-intervention study, with predominantly quantitative methods. Participants recruited over an 18-month period (01.2020-07.2021) completed self-reported well-being (Short Warwick-Edinburgh Mental Wellbeing Scale (SWEMWBS)) and recovery (Process of Recovery (QPR)) surveys, and provided details and evidence of employment and educational status. Descriptive statistics for baseline data and Shapiro-Wilk, Wilcoxon signed-rank and paired t-tests were used to compare pre- and post-intervention scores, with Hedges' g-statistic as a measure of effect size. Medical records were reviewed and a brief qualitative assessment of changes reported by students was conducted. RESULTS: Of 101 student research participants, 84 completed the intervention. Well-being (mean SWEMWBS scores 17.3 and 21.9; n = 80) and recovery (mean QPR scores 27.2 and 38.8; n = 75) improved significantly (P < 0.001; Hedges' g of 1.08 and 1.03). The number of economically inactive students reduced from 53 (69%) to 19 (24.4%). No research participants were referred for specialist mental health support while students. 'Within-self' and 'practical' changes were described by students following the intervention. CONCLUSIONS: Findings detail the largest self-reported pre-post data-set for students attending a recovery college, and the first data detailing outcomes of remote delivery of a recovery college.
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BACKGROUND: After the rapid implementation of digital health services during the COVID-19 pandemic, a paucity of research exists about the suitability of remote consulting in people with intellectual disabilities and their carers, particularly for neuropsychiatric reviews. AIM: This study examines when remote neuropsychiatric routine consulting is suitable for this population. METHOD: A survey was conducted of people with intellectual disabilities and their carers, examining their preference between face-to-face and video consultations for ongoing neuropsychiatric reviews within a rural countywide intellectual disability service in Cornwall, England (population: 538 000). The survey was sent to all adults with intellectual disabilities open to the service on 30 July 2022, closing on 30 September 2022. Participants were asked to provide responses on 11 items predesigned and co-produced between clinicians and experts by experience. The entire service caseload of people had White ethnicity, reflecting the ethnic demographics of Cornwall. Responses received without consent were excluded from the study dataset. RESULTS: Of 271 eligible participants, 119 responses were received, 104 of whom consented to having their anonymised data used for research analysis. There were no significant differences between preferences and age and gender variables. There was no statistically significant difference regarding preference for the reintroduction of face-to-face appointments (52.0%) compared with video consultations (48.0%). Travel distance (>10 miles) to the clinical setting was important but did not outweigh benefits for those preferring a face-to-face appointment. CONCLUSIONS: This study offers insights into the factors that influence preferences about what type of neuropsychiatric appointment is most suitable for people with intellectual disabilities.
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PURPOSE: Gaze tracking and pupillometry are established proxies for cognitive load, giving insights into a user's mental effort. In tele-robotic surgery, knowing a user's cognitive load can inspire novel human-machine interaction designs, fostering contextual surgical assistance systems and personalized training programs. While pupillometry-based methods for estimating cognitive effort have been proposed, their application in surgery is limited by the pupil's sensitivity to brightness changes, which can mask pupil's response to cognitive load. Thus, methods considering pupil and brightness conditions are essential for detecting cognitive effort in unconstrained scenarios. METHODS: To contend with this challenge, we introduce a personalized pupil response model integrating pupil and brightness-based features. Discrepancies between predicted and measured pupil diameter indicate dilations due to non-brightness-related sources, i.e., cognitive effort. Combined with gaze entropy, it can detect cognitive load using a random forest classifier. To test our model, we perform a user study with the da Vinci Research Kit, where 17 users perform pick-and-place tasks in addition to auditory tasks known to generate cognitive effort responses. RESULTS: We compare our method to two baselines (BCPD and CPD), demonstrating favorable performance in varying brightness conditions. Our method achieves an average true positive rate of 0.78, outperforming the baselines (0.57 and 0.64). CONCLUSION: We present a personalized brightness-aware model for cognitive effort detection able to operate under unconstrained brightness conditions, comparing favorably to competing approaches, contributing to the advancement of cognitive effort detection in tele-robotic surgery. Future work will consider alternative learning strategies, handling the difficult positive-unlabeled scenario in user studies, where only some positive and no negative events are reliably known.
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Cognição , Pupila , Procedimentos Cirúrgicos Robóticos , Humanos , Pupila/fisiologia , Cognição/fisiologia , Procedimentos Cirúrgicos Robóticos/métodos , Telemedicina , Masculino , Adulto , FemininoRESUMO
Genetic factors contribute to the aetiology of epilepsy in >50% of cases, and information on the use of antiseizure medications in people with specific aetiologies will help guide treatment decisions. The PERMIT Extension study pooled data from two real-world studies (PERMIT and PROVE) to investigate the effectiveness and safety/tolerability of perampanel (PER) when used to treat people with focal and generalised epilepsy in everyday clinical practice. This post-hoc analysis of PERMIT Extension explored the use of PER when used to treat individuals presumed to have epilepsy with a genetic aetiology. Assessments included retention rate (evaluated at 3, 6 and 12 months), effectiveness (responder and seizure freedom rates; evaluated at 3, 6, 12 months and the last visit [last observation carried forward) and tolerability (adverse events [AEs]). Of the 6822 people with epilepsy included in PERMIT Extension, 1012 were presumed to have a genetic aetiology. The most common genetic aetiologies were idiopathic generalised epilepsy (IGE; 58.2%), tuberous sclerosis (1.1%), Dravet syndrome (0.8%) and genetic epilepsy with febrile seizures plus (GEFS+; 0.5%). Retention rates at 3, 6 and 12 months in the total genetic aetiology population were 89.3%, 79.7% and 65.9%, respectively. In the total genetic aetiology population, responder rates at 12 months and the last visit were 74.8% and 68.3%, respectively, and corresponding seizure freedom rates were 48.9% and 46.5%, respectively. For the specific aetiology subgroups, responder rates at 12 months and the last visit were, respectively: 90.4% and 84.4% (IGE), 100% and 57.1% (tuberous sclerosis), 100% and 71.4% (Dravet syndrome), and 33.3% and 20.0% (GEFS+). Corresponding seizure freedom rates were, respectively: 73.1% and 64.6% (IGE), 33.3% and 22.2% (tuberous sclerosis), 20.0% and 28.6% (Dravet syndrome), and 0% and 0% (GEFS+). The incidence of AEs was 46.5% for the total genetic aetiology population, 48.8% for IGE, 27.3% for tuberous sclerosis, 62.5% for Dravet syndrome, and 20% for GEFS+. Tolerability findings were consistent with PER's known safety profile. PER was effective and generally well tolerated when used in individuals with a presumed genetic epilepsy aetiology in clinical practice. PER was effective across a wide range of genetic aetiologies.
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Anticonvulsivantes , Epilepsia , Nitrilas , Piridonas , Humanos , Nitrilas/uso terapêutico , Piridonas/uso terapêutico , Feminino , Masculino , Anticonvulsivantes/uso terapêutico , Adulto , Adulto Jovem , Adolescente , Pessoa de Meia-Idade , Epilepsia/tratamento farmacológico , Epilepsia/genética , Criança , Resultado do Tratamento , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/genética , Esclerose Tuberosa/genética , Esclerose Tuberosa/tratamento farmacológico , Esclerose Tuberosa/complicações , Pré-Escolar , IdosoRESUMO
BACKGROUND: One-third to half of people with intellectual disabilities suffer from chronic constipation (defined as two or fewer bowel movements weekly or taking regular laxatives three or more times weekly), a cause of significant morbidity and premature mortality. Research on risk factors associated with constipation is limited. AIMS: To enumerate risk factors associated with constipation in this population. METHOD: A questionnaire was developed on possible risk factors for constipation. The questionnaire was sent to carers of people with intellectual disabilities on the case-loads of four specialist intellectual disability services in England. Data analysis focused on descriptively summarising responses and comparing those reported with and without constipation. RESULTS: Of the 181 people with intellectual disabilities whose carers returned the questionnaire, 42% reported chronic constipation. Constipation was significantly associated with more severe intellectual disability, dysphagia, cerebral palsy, poor mobility, polypharmacy including antipsychotics and antiseizure medication, and the need for greater toileting support. There were no associations with age or gender. CONCLUSIONS: People with intellectual disabilities may be more vulnerable to chronic constipation if they are more severely intellectually disabled. The associations of constipation with dysphagia, cerebral palsy, poor mobility and the need for greater toileting support suggests people with intellectual disabilities with significant physical disabilities are more at risk. People with the above disabilities need closer monitoring of their bowel health. Reducing medication to the minimum necessary may reduce the risk of constipation and is a modifiable risk factor that it is important to monitor. By screening patients using the constipation questionnaire, individualised bowel care plans could be implemented.