Exploring the needs and experiences of contact tracing staff during the COVID-19 pandemic in Ireland.

BACKGROUND: Contact tracing is a key component in controlling the spread of COVID-19, however little research has focused on learning from the experiences of contact tracing staff. Harnessing learning from those in this role can provide valuable insights into the process of contact tracing and how best to support staff in this crucial role. METHODS: Thematic analysis was used to analyse 47 semi-structured interviews conducted with contact tracing staff via telephone or Zoom at three time points in 2021: March, May and September-October. RESULTS: Six themes related to the contact tracing role were identified, including training, workforce culture, systems issues, motivation and support. While initially nervous in the role, participants were motivated to contribute to the pandemic response and believed the role provided them with valuable transferable skills. Participants described the training as having improved over time while desiring more proactive training. Sources of frustration included a perceived lack of opportunity for feedback and involvement in process changes, feelings of low autonomy, and a perception of high staff turnover. Participants expressed a need for improved communication of formal emotional supports. Increased managerial support and provision of opportunities for career advancement may contribute to increased motivation among staff. CONCLUSIONS: These findings identify the experiences of contact tracing staff working during the COVID-19 pandemic, and have important implications for the improvement of the contact tracing system. Recommendations based on learning from participants offer suggestions as to how best to support the needs of contact tracing staff during a pandemic response.

Exploring the psychological impact of contact tracing work on staff during the COVID-19 pandemic.

BACKGROUND: Contact tracing is a key control measure in the response to the COVID-19 pandemic. While quantitative research has been conducted on the psychological impact of the pandemic on other frontline healthcare workers, none has explored the impact on contact tracing staff. METHODS: A longitudinal study was conducted using two repeated measures with contact tracing staff employed in Ireland during the COVID-19 pandemic using two-tailed independent samples t tests and exploratory linear mixed models. RESULTS: The study sample included 137 contact tracers in March 2021 (T1) and 218 in September 2021 (T3). There was an increase from T1 to T3 in burnout related exhaustion (p < 0·001), post-traumatic stress disorder (PTSD) symptom scores (p < 0·001), mental distress (p < 0·01), perceived stress (p < 0·001) and tension and pressure (p < 0·001). In those aged 18-30, there was an increase in exhaustion related burnout (p < 0·01), PTSD symptoms (p < 0·05), and tension and pressure scores (p < 0·05). Additionally, participants with a background in healthcare showed an increase in PTSD symptom scores by T3 (p < 0·001), reaching mean scores equivalent to those of participants who did not have a background in healthcare. CONCLUSIONS: Contact tracing staff working during the COVID-19 pandemic experienced an increase in adverse psychological outcomes. These findings highlight a need for further research on psychological supports required by contact tracing staff with differing demographic profiles.

Prior Periods of Abstinence Among Adults With an Alcohol Use Disorder: A Qualitative Template Analysis.

Abstaining from substance use is a goal of many people with alcohol use disorder (AUD). Understanding patient perspectives of a period of abstinence may assist persons with AUD in achieving this goal. We accessed the electronic health records of adults with AUD entering an emergency department in Baltimore, Maryland, who received a brief peer support intervention for substance use. Data contained open-ended text entered by staff after a patient indicated ever having a sustained period of substance abstinence. Using qualitative template analysis methodology, we identified codes and themes from these open-ended responses from N = 153 adults with AUD. The sample was primarily male (n = 109, 71.2%) and White (n = 98, 64.1%) with an average age of 43.8 years (SD = 11.2). Themes identified included the abstinence length, abstinence reason, relapse, triggers, time of relapse, and treatment. The most common code for abstinence length was "between 1 and 5 years" (n = 55, 35.9%). Other abstinence length codes included "less than 1 year" and "more than 5 years." Relapse triggers included "family (non-death)," "death of a loved one," "social," "economic," and "treatment-related" reasons. Findings from this study could be used to inform strategies for peer support interventions to assist patients with substance abstinence.

Bupropion Slow Release vs Placebo With Adaptive Incentives for Cocaine Use Disorder in Persons Receiving Methadone for Opioid Use Disorder: A Randomized Clinical Trial.

Importance: Opioid-stimulant co-use is a common problem with few evidence-based treatments. Objective: To examine bupropion slow release (SR) enhancement of a tailored abstinence incentive program for stimulant use in persons with opioid use disorder. Design, Setting, and Participants: This 26-week, double-blind, placebo-controlled randomized clinical trial with a 4-week follow-up period was conducted at 4 methadone treatment programs in Baltimore, Maryland. Included participants were persons receiving methadone for the treatment of opioid use disorder with past 3-month cocaine use and current cocaine use disorder between March 2015 and September 2019. Data were analyzed from November 2020 through August 2022. Interventions: A 6-week incentive induction period with monetary incentives for evidence of cocaine abstinence during thrice-weekly urine testing was conducted. Persons achieving 2 weeks of consecutive abstinence during induction were assigned to the relapse prevention group (20 individuals); otherwise, individuals were assigned to the abstinence initiation group (60 individuals). Participants were randomized within incentive groups to bupropion SR (150 mg oral twice daily; 40 participants) or placebo (40 participants). Incentives were available until week 26, and study medication ended week 30. Main Outcomes and Measures: The mean percentage of participants with cocaine abstinence (by negative urinalysis or self-report) during weeks 7 to 26 (ie, the incentive intervention period) and 27 to 30 (ie, the follow-up period) and the percentage of participants testing negative for cocaine at weeks 26 and 30 were assessed. Main effects of medication collapsed across incentive conditions and sensitivity analyses of medications within incentive conditions were assessed. Analyses were conducted in the modified intention-to-treat sample (ie, 80 individuals who received ≥1 dose of study medication) and completers (ie, 52 individuals who completed ≥1 visit during week 30). Results: Among 80 participants (42 Black [52.5% ] and 35 White [43.8%]; mean [SD] age, 45.7 (9.4) years; 52 males [65.0%]) receiving methadone for opioid use disorder, 40 participants were randomized to receive bupropion SR and 40 participants to receive placebo. No significant difference on urinalysis or self-reported cocaine use was observed between medication groups. Sensitivity analyses revealed differential patterns for incentive subgroups. Participants in the relapse prevention group had high abstinence (>80%; eg, during weeks 7-26 in the modified intention-to-treat analysis, 410 of 456 samples [89.9%] from participants in the bupropion SR group tested negative for cocaine) throughout the trial regardless of whether they were randomized to bupropion SR or placebo. Participants in the abstinence initiation group had better outcomes with bupropion SR than placebo throughout the trial (mean [SD] total number of samples testing negative for cocaine, 30.3 [21.6] samples for bupropion SR vs 17.1 [14.9] samples for placebo; P = .05) and more participants receiving bupropion SR than placebo were abstinent at the end of the study (20 of 30 participants [66.7%] vs 9 of 30 participants [30.0%]; P = .04). Conclusions and Relevance: In this randomized clinical trial, an overall benefit for bupropion SR vs placebo when combined with a financial abstinence incentive program was not observed. Results among incentive subgroups suggest that continued evaluation of medications, including bupropion SR, for stimulant treatment using a tailored approach that factors early abstinence into study design and interpretation may be needed. Trial Registration: ClinicalTrials.gov Identifier: NCT02111798.

Self-Esteem, Meaningful Experiences and the Rocky Road-Contexts of Physical Activity That Impact Mental Health in Adolescents.

Abundant evidence shows that physical activity benefits adolescents' mental health and wellbeing. Quantitative evidence has shown that adolescents engaging in leisure time physical activity, a number of sports, and team sport, display better mental health outcomes than their peers. The specific contextual factors that contribute to increased mental health and wellbeing through physical activity are, as yet, unconfirmed. The purpose of this study was to identify the contexts of physical activity and sport that positively impact mental health and wellbeing as perceived by adolescents. A sample of 58 adolescents participated in 13 focus groups discussing various factors related to physical activity, sport and mental health. Participants brought an object that represented physical activity and an image that represented wellbeing to each focus group to aid in the discussion and representation of both. An inductive thematic analysis was conducted on transcripts of the focus groups using a six-phase approach. Five key themes were identified: (1) achievements and improvements leading to increased self-esteem; (2) the importance of meaningful experiences, a sense of belonging and contributions to identity; (3) development of resilience and responding to setbacks; (4) social connectedness and relatedness, and (5) an opportunity to experience mindfulness, distraction and flow-states. In order to enhance and support wellbeing through physical activity, adolescents should be encouraged and provided with opportunities to engage in enjoyable activities with people with whom they experience a sense of belonging, where there is an opportunity to experience mastery and improvement and that includes an element of autonomy or choice.

Practical Technology for Expanding and Improving Substance Use Disorder Treatment: Telehealth, Remote Monitoring, and Digital Health Interventions.

The US opioid crisis and the COVID-19 pandemic have sparked innovation in substance use disorder (SUD) treatment such that telehealth, remote monitoring, and digital health interventions are increasingly feasible and effective. These technologies can increase SUD treatment access and acceptability, even for nontreatment seeking, remote, and underserved populations, and can be used to reduce health disparities. Overall, digital tools will likely overcome many barriers to delivery of evidence-based behavioral treatments such as cognitive behavioral therapy and contingency management, that, along with appropriate medications, constitute the foundation of treatment of SUDs.

Feasibility of a peer-led, after-school physical activity intervention for disadvantaged adolescent females during the COVID-19 pandemic: results from the Girls Active Project (GAP).

INTRODUCTION: There is a critical need for interventions that can be feasibly implemented and are effective in successfully engaging adolescent females in physical activity (PA). A theory-based, peer-led, after-school PA intervention, the Girls Active Project (GAP), was codesigned with adolescent females. This study aimed to assess the feasibility of implementing and evaluating the GAP programme. SETTING: One single-sex, female-only, designated disadvantaged postprimary school (students aged 12-18) in Dublin, Ireland. METHODS: Mixed methods were applied with multiple stakeholders over a 12-week trial (March to May 2021). A single-arm study design was used to examine intervention: reach, dose, fidelity, acceptability, compatibility and context. Feasibility of using proposed self-reported outcome measures (moderate-to-vigorous PA levels, self-rated health, life satisfaction, PA self-efficacy and PA enjoyment) was also explored. Due to school closure resulting from the COVID-19 pandemic, the intervention was delivered both online and in person in the school setting. RESULTS: Eight exercise classes were peer delivered by project leaders (n = 6, students aged 15-17) to intervention recipients (students aged 13-14). Recruitment was low (n = 8, 10% of eligible students, mean age: 13.3 SD: 0.46), yet retention was high (n = 7/8, 88%). Attendance rates were satisfactory (68%), and the intervention was implemented with high fidelity (87%). Data completion rates suggested proposed self-reported outcome measures were deemed appropriate (≥ 95%), except for weight (50%) and height data (80%). Despite COVID-19 hindering intervention implementation, both quantitative and qualitative data suggested that stakeholders were satisfied and perceived the in-person delivered intervention to be compatible with the school setting. Recommended refinements included extending class duration, introducing different rewards, and boosting programme awareness. CONCLUSIONS: Further thought must be given on how to increase recruitment. Overall, the in-person delivered after-school PA programme was well-received by stakeholders and shows promise as an intervention that can be feasibly implemented and evaluated. Suggested improvements to the GAP intervention programme are recommended, before continuing to a more robust evaluation. TRIAL REGISTRATION: 10.17605/OSF.IO/75HWJ (prospectively registered, date of registration: 9th December 2020).

Comparison of psychedelic and near-death or other non-ordinary experiences in changing attitudes about death and dying.

Both psychedelic drug experiences and near-death experiences can occasion changes in perspectives on death and dying, but there have been few direct comparisons of these phenomena. This study directly compared psychedelic occasioned and non-drug experiences which altered individuals' beliefs about death. Individuals who reported an experience that altered their beliefs about death occasioned by either a psychedelic drug or a near-death or other non-ordinary experience completed an online survey. Circumstances of the experience, mystical and near-death subjective features, changes in attitudes about death, and other persisting effects were evaluated. The study sample (n = 3192) included five groups: non-drug near-death or other non-ordinary experiences (n = 933), and drug experiences occasioned by lysergic acid diethylamide (LSD) (n = 904), psilocybin (n = 766), ayahuasca (n = 282), or N,N-dimethyltryptamine (DMT) (n = 307). Analyses of differences in experiences were adjusted statistically for demographic differences between groups. Compared to the psychedelic groups, the non-drug group was more likely to report being unconscious, clinically dead, and that their life was in imminent danger. The groups were remarkably similar in the reported changes in death attitudes attributed to the experience, including a reduced fear of death and high ratings of positive persisting effects and personal meaning, spiritual significance, and psychological insight. Although both psychedelic and non-drug participants showed robust increases on standardized measures of mystical and near-death experiences, these measures were significantly greater in the psychedelic participants. Non-drug participants were more likely to rate their experiences as the single most meaningful of their lives. Comparing across psychedelic substances, ayahuasca and DMT groups tended report stronger and more positive enduring consequences of the experience than the psilocybin and LSD groups, which were largely indistinguishable. These data provide a detailed characterization and comparison of psychedelic occasioned and non-drug experiences that changed attitudes about death and suggest the importance of future prospective psychedelic administration studies.

Autistic Adult Services Availability, Preferences, and User Experiences: Results From the Autism Spectrum Disorder in the European Union Survey.

There is very little knowledge regarding autistic adult services, practices, and delivery. The study objective was to improve understanding of current services and practices for autistic adults and opportunities for improvement as part of the Autism Spectrum Disorder in the European Union (ASDEU) project. Separate survey versions were created for autistic adults, carers of autistic adults, and professionals in adult services. 2,009 persons responded to the survey and 1,085 (54%) of them completed at least one of the services sections: 469 autistic adults (65% female; 55% <35 years old), 441 carers of autistic adults (27% female; 6% <35 years old), 175 professionals in adult services (76% female; 67% in non-medical services). Top choices by autistic adults, carers or professionals for services best suiting their current needs were: residential services: "help in own home" (adults, carers of high independent adults, professionals), "fulltime residential facility" (carers of low independent adults); employment services: "job mentors" (adults, carers of high independent adults, professionals), "Sheltered employment" (carers of low independent adults); education services: "support in regular education setting" (all groups); financial services: financial support in lieu of employment ("Supplementary income for persons unable to have full employment" for adults, "full pension" for carers of low independent adults) or to supplement employment earnings for carers of high independent adults and professionals; social services: "behavior training" (adults) and "life skills training" (carers and professionals). Waiting times for specific services were generally < 1 month or 1-3 months, except for residential services which could be up to 6 months; most professionals were uninformed of waiting times (>50% responded "don't know"). Five of seven residential services features recommended for autistic adults were experienced by <50% of adults. The knowledge of good local services models that work well for autistic adults was generally low across all services areas. The variation in services experiences and perceptions reported by autistic adults, carers, or professionals underscore the need to query all groups for a complete picture of community services availability and needs. The results showed areas for potential improvement in autistic adult services delivery in the EU to achieve recommended standards.

Momentary Self-regulation: Scale Development and Preliminary Validation.

BACKGROUND: Self-regulation refers to a person's ability to manage their cognitive, emotional, and behavioral processes to achieve long-term goals. Most prior research has examined self-regulation at the individual level; however, individual-level assessments do not allow the examination of dynamic patterns of intraindividual variability in self-regulation and thus cannot aid in understanding potential malleable processes of self-regulation that may occur in response to the daily environment. OBJECTIVE: This study aims to develop a brief, psychometrically sound momentary self-regulation scale that can be practically administered through participants' mobile devices at a momentary level. METHODS: This study was conducted in 2 phases. In the first phase, in a sample of 522 adults collected as part of a larger self-regulation project, we examined 23 previously validated assessments of self-regulation containing 594 items in total to evaluate the underlying structure of self-regulation via exploratory and confirmatory factor analyses. We then selected 20 trait-level items to be carried forward to the second phase. In the second phase, we converted each item into a momentary question and piloted the momentary items in a sample of 53 adults over 14 days. Using the results from the momentary pilot study, we explored the psychometric properties of the items and assessed their underlying structure. We then proposed a set of subscale and total score calculations. RESULTS: In the first phase, the selected individual-level items appeared to measure 4 factors of self-regulation. The factors identified were perseverance, sensation seeking, emotion regulation, and mindfulness. In the second phase of the ecological momentary assessment pilot, the selected items demonstrated strong construct validity as well as predictive validity for health risk behaviors. CONCLUSIONS: Our findings provide preliminary evidence for a 12-item momentary self-regulation scale comprising 4 subscales designed to capture self-regulatory dynamics at the momentary level.

Buprenorphine treatment retention and comorbidities among patients with opioid use disorder in a primary care setting.

BACKGROUND AND OBJECTIVES: More information is needed about comorbidities among patients receiving buprenorphine maintenance treatment and their relationship with retention. METHODS: Retrospective electronic health record data over a 5-year period from primary care patients receiving buprenorphine for the treatment of opioid use disorder were examined (N = 899). The present analysis determined the prevalence of comorbidities and examined associations with treatment retention as defined by cumulative duration of buprenorphine prescription. RESULTS: Tobacco use and comorbidities including hypertension were prevalent but did not predict retention according to survival analyses controlling for demographic characteristics. Retention was poorer among patients testing positive for cocaine (HR = 1.38, 95% CI: 1.09-1.74, p = .007) and patients with hepatitis C virus (HR = 1.17, 95% CI: 1.01-1.37, p = .04). CONCLUSION AND SCIENTIFIC SIGNIFICANCE: This study provides new knowledge of previously unexamined associations between comorbidities (e.g., hypertension) and buprenorphine treatment retention. The robust association between cocaine use and poorer buprenorphine retention serves to resolve prior conflicting data in the literature.

Momentary Influences on Self-Regulation in Two Populations With Health Risk Behaviors: Adults Who Smoke and Adults Who Are Overweight and Have Binge-Eating Disorder.

Introduction: Self-regulation has been implicated in health risk behaviors and is a target of many health behavior interventions. Despite most prior research focusing on self-regulation as an individual-level trait, we hypothesize that self-regulation is a time-varying mechanism of health and risk behavior that may be influenced by momentary contexts to a substantial degree. Because most health behaviors (e.g., eating, drinking, smoking) occur in the context of everyday activities, digital technologies may help us better understand and influence these behaviors in real time. Using a momentary self-regulation measure, the current study (which was part of a larger multi-year research project on the science of behavior change) used ecological momentary assessment (EMA) to assess if self-regulation can be engaged and manipulated on a momentary basis in naturalistic, non-laboratory settings. Methods: This one-arm, open-label exploratory study prospectively collected momentary data for 14 days from 104 participants who smoked regularly and 81 participants who were overweight and had binge-eating disorder. Four times per day, participants were queried about momentary self-regulation, emotional state, and social and environmental context; recent smoking and exposure to smoking cues (smoking sample only); and recent eating, binge eating, and exposure to binge-eating cues (binge-eating sample only). This study used a novel, momentary self-regulation measure comprised of four subscales: momentary perseverance, momentary sensation seeking, momentary self-judgment, and momentary mindfulness. Participants were also instructed to engage with Laddr, a mobile application that provides evidence-based health behavior change tools via an integrated platform. The association between momentary context and momentary self-regulation was explored via mixed-effects models. Exploratory assessments of whether recent Laddr use (defined as use within 12 h of momentary responses) modified the association between momentary context and momentary self-regulation were performed via mixed-effects models. Results: Participants (mean age 35.2; 78% female) in the smoking and binge-eating samples contributed a total of 3,233 and 3,481 momentary questionnaires, respectively. Momentary self-regulation subscales were associated with several momentary contexts, in the combined as well as smoking and binge-eating samples. For example, in the combined sample momentary perseverance was associated with location, positively associated with positive affect, and negatively associated with negative affect, stress, and tiredness. In the smoking sample, momentary perseverance was positively associated with momentary difficulty in accessing cigarettes, caffeine intake, and momentary restraint in smoking, and negatively associated with temptation and urge to smoke. In the binge-eating sample, momentary perseverance was positively associated with difficulty in accessing food and restraint in eating, and negatively associated with urge to binge eat. While recent Laddr use was not associated directly with momentary self-regulation subscales, it did modify several of the contextual associations, including challenging contexts. Conclusions: Overall, this study provides preliminary evidence that momentary self-regulation may vary in response to differing momentary contexts in samples from two exemplar populations with risk behaviors. In addition, the Laddr application may modify some of these relationships. These findings demonstrate the possibility of measuring momentary self-regulation in a trans-diagnostic way and assessing the effects of momentary, mobile interventions in context. Health behavior change interventions may consider measuring and targeting momentary self-regulation in addition to trait-level self-regulation to better understand and improve health risk behaviors. This work will be used to inform a later stage of research focused on assessing the transdiagnostic mediating effect of momentary self-regulation on medical regimen adherence and health outcomes. Clinical Trial Registration: ClinicalTrials.gov, Identifier: NCT03352713.

Co-design of a school-based physical activity intervention for adolescent females in a disadvantaged community: insights from the Girls Active Project (GAP).

BACKGROUND: Globally, adolescents' physical activity (PA) participation rates are low, particularly among lower socioeconomic groups, with females consistently the least active. The aim of this study was to co-design, with adolescent females, a school-based PA intervention in a single-sex, females-only designated disadvantaged post-primary school in Ireland. This involved using the Behaviour Change Wheel (BCW) and Public and Patient Involvement (PPI). This paper outlines the novel methodological approach taken. METHODS: The three stages 1) understand the behaviour, 2) identify intervention options, and 3) identify content and implementation options of the BCW guide is described. A student PPI Youth Advisory Group (YAG) (n = 8, aged 15-17) was established. Mixed-methods were used with students (n = 287, aged 12-18) and teachers (n = 7) to capture current self-reported PA levels and to identify factors influencing adolescent females' PA behaviour in their school setting. The intervention options, content and implementation options were identified through discussion groups with the YAG. The Template for Intervention Description and Replication (TIDieR) checklist was used to specify details of the intervention. RESULTS: Just 1.4% of the students in this sample reported meeting the recommended PA guidelines. Students identified having more 'time' as the strongest predictor to becoming more active in school (Mean = 4.01, 95% CI 3.91 to 4.12). Social influences, environmental context and resources, behavioural regulation, beliefs about capabilities, goals, and reinforcement emerged from the qualitative data as factors influencing PA behaviour at school. The BCW co-design process resulted in the identification of seven intervention functions, four policy categories and 21 Behaviour Change Techniques. The Girls Active Project (GAP) intervention, a peer-led, after-school PA programme was proposed. CONCLUSIONS: This paper describes how the BCW, a comprehensive, evidence-based, theory-driven framework was used in combination with PPI to co-design a school-based intervention aimed to increase adolescent females' PA levels. This approach could be replicated in other settings to develop targeted behavioural interventions in populations with specific demographic characteristics.

Experiences of residents, family members and staff in residential care settings for older people during COVID-19: A mixed methods study.

AIM: The aim of this study was to explore the COVID-19 pandemic as it was experienced by people on the front line in residential care settings for older people in the Republic of Ireland (ROI). BACKGROUND: The COVID-19 pandemic had a disproportionate effect in residential care settings for older people in Ireland. METHODS: A two-phased mixed methods study was conducted, consisting of an online survey administered shortly after the first wave of the virus to staff, residents and family members and one-to-one interviews with family members shortly after wave 2 of the virus. RESULTS: Isolation, loss of connectedness as well as a reduction in the level/quality of care provision led to significant adverse impacts for both residents and their families. Staff reported high levels of stress, trauma and burnout. Family input to care was suspended, with adverse consequences. CONCLUSION: The pandemic had an extremely adverse impact on residents, family members and staff in care settings for older people. IMPLICATIONS FOR NURSING MANAGEMENT: Strategies to ensure that residents' physical, emotional and social needs and staffs' professional and personal needs are appropriately supported during future waves of the pandemic should now be implemented.

Determinants of satisfaction with the detection process of autism in Europe: Results from the ASDEU study.

LAY ABSTRACT: Professional guidance and support in response to first concerns appears to be an important predictor of the level of satisfaction with the detection process of autism in young children. In this study, we analyzed the views of 1342 family members, including 1278 parents, who completed an online survey form collecting information about their experience and satisfaction with the early detection of autism in their child. Specifically, we were interested in how specific experiences with the detection process relate to the satisfaction with it and whether we could identify important predictors of satisfaction. The detection process is an emotionally charged period for parents, often described as painful, chaotic, and lengthy. A better understanding of their experiences is important to take appropriate action to improve the detection process. In our sample, the level of satisfaction with the detection process varied greatly from one respondent to another. Among the different experiences we considered, whether or not respondents received professional guidance and support in response to first concerns explained most of this variation. We also found that difficulty finding information about detection services, lack of professional guidance and support in response to first concerns, having to find a diagnostic service on one's own, and longer delays between confirmation of concerns and first appointment with a specialist were experiences associated with a greater likelihood of being unsatisfied. The findings of this study highlight the importance of the parent-professional relationship in the detection process and have important practical implications for health administrations to improve the detection process.

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

High-throughput DNA sequencing is increasingly employed to diagnose single gene neurological and neuromuscular disorders. Large volumes of data present new challenges in data interpretation and its useful translation into clinical and genetic counselling for families. Even when a plausible gene is identified with confidence, interpretation of the clinical significance and inheritance pattern of variants can be challenging. We report our approach to evaluating variants in the skeletal muscle chloride channel ClC-1 identified in 223 probands with myotonia congenita as an example of these challenges. Sequencing of CLCN1, the gene that encodes CLC-1, is central to the diagnosis of myotonia congenita. However, interpreting the pathogenicity and inheritance pattern of novel variants is notoriously difficult as both dominant and recessive mutations are reported throughout the channel sequence, ClC-1 structure-function is poorly understood and significant intra- and interfamilial variability in phenotype is reported. Heterologous expression systems to study functional consequences of CIC-1 variants are widely reported to aid the assessment of pathogenicity and inheritance pattern. However, heterogeneity of reported analyses does not allow for the systematic correlation of available functional and genetic data. We report the systematic evaluation of 95 CIC-1 variants in 223 probands, the largest reported patient cohort, in which we apply standardized functional analyses and correlate this with clinical assessment and inheritance pattern. Such correlation is important to determine whether functional data improves the accuracy of variant interpretation and likely mode of inheritance. Our data provide an evidence-based approach that functional characterization of ClC-1 variants improves clinical interpretation of their pathogenicity and inheritance pattern, and serve as reference for 34 previously unreported and 28 previously uncharacterized CLCN1 variants. In addition, we identify novel pathogenic mechanisms and find that variants that alter voltage dependence of activation cluster in the first half of the transmembrane domains and variants that yield no currents cluster in the second half of the transmembrane domain. None of the variants in the intracellular domains were associated with dominant functional features or dominant inheritance pattern of myotonia congenita. Our data help provide an initial estimate of the anticipated inheritance pattern based on the location of a novel variant and shows that systematic functional characterization can significantly refine the assessment of risk of an associated inheritance pattern and consequently the clinical and genetic counselling.

An exploration of the levels of clinical autonomy of advanced nurse practitioners: A narrative literature review.

AIMS AND OBJECTIVES: The aims of the review are to synthesise current evidence about advanced nurse practitioner clinical autonomy and consider how this may inform clinical practice and research. BACKGROUND: Clinical autonomy is one of the cornerstones of advanced nursing practice globally, yet there is limited synthesis of clinical autonomy in the literature. DESIGN: This is a narrative literature review. DATA SOURCES: The databases Cumulative Index to Nursing and Allied Health Literature, EBSCO host, Cochrane Library, CINAHL and MEDLINE were searched for publications between 2005 and 2020 inclusive. REVIEW METHODS: A systematic approach was used to analyse the literature reviewed. Two reviewers undertook quality appraisal. RESULTS: Nineteen articles were selected. Four major themes emerged: (1) 'ANP Stepping Up'-moving into and accepting advanced nursing practice roles and clinical responsibilities; (2) 'ANP Living It'-ANPs' ability to act independently including an understanding of task mastery and self-determination; (3) 'ANP Bounce-back ability'-depicted in challenges that threaten their ability to practice clinically autonomously; (4) 'ANP Setting in Motion'-indirect care activities and service-level improvements. CONCLUSION: A clearer understanding of advanced nurse practitioner clinical autonomy could help develop more in-depth knowledge. Research of advanced nurse practitioners' clinical autonomy would improve full utilisation in clinical practice.

Intervention Services for Autistic Adults: An ASDEU Study of Autistic Adults, Carers, and Professionals' Experiences.

The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services' use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults.