A cognitive task analysis of final year nursing students' situation awareness in simulated deteriorating patient events: A mixed methods study.

AIM: The aim of this study was to: (1) use cognitive task analysis to describe final year nursing students situation awareness in recognising, responding and escalating care of deteriorating patients in ward settings; and (2) make recommendations for training and practice. DESIGN: A mixed methods cognitive task analysis with a convergent triangulation design. METHOD: Data collection involved observations of 33 final year nursing students in simulated deteriorating patient scenarios and retrospective cognitive interviews. A process tracing technique was applied to identify the cues to deterioration participants perceived; how cue perception altered as situational demands increased; the extent that participants made connections between perceived cues and reached a situational understanding; and the factors that influenced and constrained participants situation awareness. Qualitative and quantitative findings are woven together and presented using descriptive statistics, illustrative quotations and timeline extractions. RESULTS: The median cue perception was 65.4% and 57.6% in the medical and surgical scenarios, respectively. Perception was negatively influenced by incomplete vital sign monitoring as situations escalated; limited physical assessments; passive scanning behaviours; poor task automaticity; and excessive cognitive demands. Incomplete perception, poor cue integration and underdeveloped mental models influenced situational understanding. Escalation calls did not always accurately reflect situations and a reporting mindset was evident. Clinical exposure to deteriorating patients was described as variable and opportunistic. REPORTING METHOD: The study is reported in accordance with the Good Reporting of a Mixed Methods Study (GRAMMS) checklist. PATIENT OR PUBLIC CONTRIBUTION: Patients and public were not involved in this research.

Metabolic Syndrome in Adults Receiving Clozapine; The Need for Pharmacist Support.

People who are diagnosed with treatment resistant schizophrenia (TRS) are likely to have clozapine as a therapeutic management option. There is a high prevalence of metabolic syndrome in patients receiving clozapine. To mitigate against this, monitoring of weight, waist circumference, lipid profile, glycated haemoglobin (HbA1c), fasting blood glucose (FBG) and blood pressure (BP) is recommended. The aims of this study were to examine the prevalence of metabolic syndrome and whether any variables were correlated with its development, and to highlight any opportunities for the pharmacist to offer support. This study was conducted in an urban hospital and its associated Clozapine Clinic in Cork, Ireland. A retrospective audit assessed the prevalence of metabolic syndrome using the International Diabetes Federation (IDF) criteria. Patients were eligible for inclusion if they were aged 18 years or more, registered with the Clozapine Clinic, and had the capacity to provide informed consent. All data were entered into Microsoft® Excel ® (Microsoft Corporation) and further statistical analysis was undertaken using R, t-tests, Fisher's Exact Test and Mann-Whitney U tests as appropriate, and p ≤ 0.05 was considered statistically significant. Of 145 patients (32% female; mean age (SD) 45.3 (±11.7) years; 86.2% living independently/in family home), nearly two thirds (n = 86, 59.3%) were diagnosed with metabolic syndrome. The mean age of participants with metabolic syndrome was 44.4 years (SD = 10.8), similar to the 46.6 years (SD = 12.8) for those without. Variables that were identified to be statistically significantly associated with metabolic syndrome included waist circumference, weight, triglycerides, high density lipoprotein-cholesterol (HDL-C), BP, FBG and HbA1c. The high incidence of metabolic syndrome in this patient population highlights the need for continued physical health monitoring of these patients to ameliorate the risk of developing metabolic syndrome.

Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study.

DDX3X variants are a common cause of intellectual disability (ID) in females, and have been associated with autism spectrum disorder and emotional-behavioural difficulties. In this study, we compared phenotypic data for 23 females with DDX3X variants, to 23 females with ID and other genetic diagnoses. We found a wide range of adaptive, social and emotional function within the DDX3X group. Autism characteristics did not differ between DDX3X and comparison groups, while levels of anxiety and self-injurious behaviour (SIB) were significantly higher in the DDX3X group. Within the DDX3X group, adaptive function, autism characteristics, anxiety and SIB scores were positively correlated, with evidence for group-specific associations with SIB. Future work is warranted to explore the multilevel mechanisms contributing to social and emotional development in individuals with DDX3X variants.

Cognitive segmentation and fluid reasoning in childhood.

The ability to solve novel complex problems predicts success in a wide range of areas. Recent research suggests that the ability to cognitively segment complex problems into smaller parts constrains nonverbal reasoning in adults. This study aimed to test whether cognitively segmenting problems improves nonverbal reasoning performance for children as it does for adults. A total of 115 children aged 6-10 years completed two versions of a modified traditional matrix reasoning task in which demands on working memory, integration, and processing speed were minimised, such that the only significant requirement was to break each problem into its constituent parts. In one version of the task, participants were presented with a traditional 2×2 Matrix and asked to draw the missing matrix item into a response box below. In a second version, the problem was broken down into its component features across three separate cells, reducing the need for participants to segment the problem. As with adults, performance was better in the condition in which the problems were separated into component parts. Children with lower fluid intelligence did not benefit more in the separated condition than children with higher fluid intelligence, and there was no evidence that segmenting problems was more beneficial for younger than older children. This study demonstrates that cognitive segmentation is a critical component of complex problem-solving for children, as it is for adults. By forcing children to focus their attention on separate parts of a complex visual problem, their performance can be dramatically improved.

Customised acoustic therapy delivered through a web-based platform-An innovative approach to tinnitus treatment.

OBJECTIVES: Customised acoustic therapy aims to moderate the neural pathways implicated in the pathophysiology of tinnitus. This study aimed to assess the efficacy of customised acoustic therapy administered via a web-based treatment platform. DESIGN: Clinical trial with prospective recruitment. Fifty-eight participants underwent 6 weeks of customised acoustic therapy. SETTING: Treatment was delivered for 2 h each day using a smartphone, tablet or computer. Treatment was integrated into usual daily activities. PARTICIPANTS: Participants with subjective tinnitus were recruited through public and private otolaryngology clinics and electronic and print media. MAIN OUTCOMES MEASURED: FiveQ, a novel 5 question tinnitus questionnaire, was measured at baseline and each week of treatment. Statistical analyses, including Wilcoxon, Mann-Whitney and mixed linear regression, were used to assess treatment efficacy and identify factors associated with treatment response. RESULTS: 39/58 participants (67.2%) had an improvement in symptom severity scores, 4 had no change (6.9%) and 15 had a decline from baseline (25.9%). Mean FiveQ scores improved by 22.9% from 40.8 (SD = 21.4) at baseline to 31.5 (SD = 21.3) following 6 weeks of treatment (p < 0.001). With the exception of the slight tinnitus group, all other groups (from mild to catastrophic) demonstrated a treatment response. Participants with low frequency tinnitus (<2000 Hz) had a significantly greater treatment response (p < 0.001). CONCLUSION: Customised acoustic therapy administered via a web-based platform demonstrated encouraging efficacy. At least mild symptoms at baseline and low frequency tinnitus were associated with a greater treatment response. Customised acoustic therapy offers accessible and efficacious tinnitus treatment, however longer term clinical studies are required to confirm the observed initial benefit is maintained.

FiveQ: A new easy-to-use validated clinical instrument for tinnitus severity.

OBJECTIVES: Tinnitus is a complex and debilitating phenomenon with potentially significant implications on quality of life. New presentations can be resource and time intensive for clinicians. Validated comprehensive tinnitus questionnaires may lack practical utility in the high-volume clinical setting. Concise, targeted questionnaires may offer an efficient alternative. This study aimed to assess the validity of the FiveQ, a novel five question construct designed to measure tinnitus severity. Convergent validity was assessed through correlating FiveQ against two comprehensive validated questionnaires, the Tinnitus Handicap Questionnaire (THQ) and Tinnitus Handicap Inventory (THI). DESIGN: Cross-sectional study with prospective recruitment. The 117 voluntarily recruited participants completed the FiveQ, THI and THQ questionnaires. Results were comparatively analysed. SETTING: Recruitment was via electronic and print media, audiology clinics and public and private otolaryngology outpatient clinics. Surveys were completed electronically. PARTICIPANTS: Members of the public aged over 18 with subjective tinnitus were invited to participate. MAIN OUTCOME MEASURED: Analyses for establishing the content validity, construct validity, internal consistency, explorary factor analysis, and responsiveness of FiveQ was performed. RESULTS: FiveQ demonstrated a high positive correlation with both the THI (r = 0.773, p < .001) and THQ (r = 0.808, p < .001). Internal consistency for FiveQ reached an acceptable threshold (Cronbach's alpha 0.86). Exploratory factor analysis demonstrated that one latent factor underlies the five items of the FiveQ. FiveQ demonstrated better responsiveness than both the THI and THQ after a 6 week interval repeat measurement. CONCLUSION: FiveQ demonstrated high-positive correlations with existing validated tinnitus questionnaires as well as acceptable internal consistency and factor analysis. The concise construct of FiveQ allows clinicians to efficiently estimate tinnitus severity, target treatment towards dominant symptoms and establish a reliable estimation of treatment response following interventions.

[Formula: see text]FarmApp: a new assessment of cognitive control and memory for children and young people with neurodevelopmental difficulties.

We introduce a new touchscreen-based method measuring aspects of cognitive control and memory, in children and young people with neurodevelopmental difficulties, including intellectual disability (ID). FarmApp is a gamified, tablet-based assessment tool measuring go/no-go response speed, response inhibition, visuospatial short-term memory span, and long-term memory. Here, we assessed the feasibility, validity, and utility of the method, including the benefits of measuring change in performance over two weeks. We observed that: 1) a higher proportion of participants completed FarmApp than traditional psychometric tests; 2) this proportion increased when participants had opportunity for two weeks of self-paced testing at home; 3) ADHD-relevant behavioral difficulties were associated with average go/no-go performance across all attempts, and change in go/no-go performance over time, indicating sensitivity of the method to cognitive differences with real-world relevance. We also addressed the potential utility of the FarmApp for exploring links between ID etiology and cognitive processes. We observed differences in go/no-go task between two groups of ID participants stratified by the physiological functions of associated genetic variants (chromatin-related and synaptic-related). Moreover, the synaptic group demonstrated higher degree of improvement in go/no-go performance over time. This outcome is potentially informative of dynamic mechanisms contributing to cognitive difficulties within this group. In sum, FarmApp is a feasible, valid, and useful tool increasing access to cognitive assessment for individuals with neurodevelopmental difficulties of variable severity, with an added opportunity to monitor variation in performance over time and determine capacity to acquire task competence.

Keyworker mediated enhancement of physical health in patients with first episode psychosis: A feasibility/acceptability study.

AIM: Early intervention for people experiencing first episode psychosis is a priority, and keyworkers are vital to such services. However, keyworkers' roles in addressing first episode psychosis patients' physical health are under researched. This study addresses this knowledge gap by evaluating a keyworker-mediated intervention promoting physical health among first episode psychosis patients. METHODS: The study was informed by the Medical Research Council's Framework for Complex Interventions to Improve Health. First episode psychosis participants were recruited from three Irish mental health services. The intervention was evaluated in terms of its feasibility/acceptability. RESULTS: Feasibility outcomes were mixed (recruitment rate = 24/68 [35.3%]; retention rate = 18/24 [75%]). The baseline sample was predominantly male (M:F ratio = 13:6; Med age = 25 y; IQR = 23-42 y). Common health issues among participants included overweightness/obesity (n = 11) and substance use (smoking/alcohol consumption [n = 19]). Participants' initial health priorities included exercising more (n = 10), improving diet (n = 6), weight loss (n = 7) and using various health/healthcare services. The intervention's acceptability was evidenced by the appreciation participants had for physical health keyworkers' support, as well as the healthy lifestyle, which the intervention promoted. Acceptability was somewhat compromised by a low-recruitment rate, variable linkages between keyworkers and general practitioners (GPs) and COVID-19 restrictions. CONCLUSIONS: Physical health-oriented keyworker interventions for first episode psychosis patients show promise and further evaluation of such initiatives is warranted. Future interventions should be mindful of participant recruitment challenges, strategies to enhance relationships between keyworkers and GPs, and if necessary, they should mitigate COVID-19 restrictions' impacts on care.

Situation awareness and the mitigation of risk associated with patient deterioration: A meta-narrative review of theories and models and their relevance to nursing practice.

BACKGROUND: Accurate situation awareness has been identified as a critical component of effective deteriorating patient response systems and an essential patient safety skill for nursing practice. However, situation awareness has been defined and theorised from multiple perspectives to explain how individuals, teams and systems maintain awareness in dynamic task environments. AIM: Our aim was to critically analyse the different approaches taken to the study of situation awareness in healthcare and explore the implications for nursing practice and research as it relates to clinical deterioration in ward contexts. METHODS: We undertook a meta-narrative review of the healthcare literature to capture how situation awareness has been defined, theorised and studied in healthcare. Following an initial scoping review, we conducted an extensive search of ten electronic databases and included any theoretical, empirical or critical papers with a primary focus on situation awareness in an inpatient hospital setting. Included papers were collaboratively categorised in accordance with their theoretical framing, research tradition and paradigm with a narrative review presented. RESULTS: A total of 120 papers were included in this review. Three overarching narratives reflecting philosophical, patient safety and solution focussed framings of situation awareness and seven meta-narratives were identified as follows: individual, team and systems perspectives of situation awareness (meta-narratives 1-3), situation awareness and patient safety (meta-narrative 4), communication tools, technologies and education to support situation awareness (meta-narratives 5-7). We identified a concentration of literature from anaesthesia and operating rooms and a body of research largely located within a cognitive engineering tradition and a positivist research paradigm. Endsley's situation awareness model was applied in over 80% of the papers reviewed. A minority of papers drew on alternative situation awareness theories including constructivist, collaborative and distributed perspectives. CONCLUSIONS: Nurses have a critical role in identifying and escalating the care of deteriorating patients. There is a need to build on prior studies and reflect on the reality of nurse's work and the constraints imposed on situation awareness by the demands of busy inpatient wards. We suggest that this will require an analysis that complements but goes beyond the dominant cognitive engineering tradition to reflect the complex socio-cultural reality of ward-based teams and to explore how situation awareness emerges in increasingly complex, technologically enabled distributed healthcare systems.

The role of key workers in improving physical health in first episode psychosis: A scoping review.

AIM: Studies have demonstrated that a majority of the decline in health status and functioning emerges during the first few years following the onset of psychosis. This knowledge led to the development of specialized early intervention services (EIS) targeting patients experiencing their first episode of psychosis (FEP). The central component of EIS is often assertive case management delivered by a multidisciplinary team, where an appointed key worker is responsible for coordinating treatment and delivering various psychosocial interventions to service users. The aim of this scoping review was to examine how key workers can enhance the physical health outcomes in people with FEP by addressing the factors associated with increased mortality in this population. METHODS: The scoping review framework comprised a five-stage process developed by Arksey and O'Malley. The search process was guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. RESULTS: A total of 27 studies conducted across 10 countries were analysed. These studies discussed the various ways in which key workers can mediate enhancements in the various factors contributing to the increased mortality rates in FEP patients. CONCLUSIONS: A broad range of key worker-mediated outcomes was identified, which were broadly classified into three themes: influences on lifestyle, influences on effects of psychosis and influences on organizational barriers. Our findings suggest that key workers primarily mediated the amelioration of psychosis-induced effects and the reduction of organizational barriers. Further trials of key worker interventions to enhance physical health outcomes in this cohort are warranted.

Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study.

BACKGROUND: The relationships between specific genetic aetiology and phenotype in neurodevelopmental disorders are complex and hotly contested. Genes associated with intellectual disability (ID) can be grouped into networks according to gene function. This study explored whether individuals with ID show differences in autism spectrum characteristics (ASC), depending on the functional network membership of their rare, pathogenic de novo genetic variants. METHODS: Children and young people with ID of known genetic origin were allocated to two broad functional network groups: synaptic physiology (n = 29) or chromatin regulation (n = 23). We applied principle components analysis to the Social Responsiveness Scale to map the structure of ASC in this population and identified three components-Inflexibility, Social Understanding and Social Motivation. We then used Akaike information criterion to test the best fitting models for predicting ASC components, including demographic factors (age, gender), non-ASC behavioural factors (global adaptive function, anxiety, hyperactivity, inattention), and gene functional networks. RESULTS: We found that, when other factors are accounted for, the chromatin regulation group showed higher levels of Inflexibility. We also observed contrasting predictors of ASC within each network group. Within the chromatin regulation group, Social Understanding was associated with inattention, and Social Motivation was predicted by hyperactivity. Within the synaptic group, Social Understanding was associated with hyperactivity, and Social Motivation was linked to anxiety. LIMITATIONS: Functional network definitions were manually curated based on multiple sources of evidence, but a data-driven approach to classification may be more robust. Sample sizes for rare genetic diagnoses remain small, mitigated by our network-based approach to group comparisons. This is a cross-sectional study across a wide age range, and longitudinal data within focused age groups will be informative of developmental trajectories across network groups. CONCLUSION: We report that gene functional networks can predict Inflexibility, but not other ASC dimensions. Contrasting behavioural associations within each group suggest network-specific developmental pathways from genomic variation to autism. Simple classification of neurodevelopmental disorder genes as high risk or low risk for autism is unlikely to be valid or useful.

Everyone matters; everyone contributes; everyone grows: a pilot project cultivating psychological safety to promote growth-oriented service culture after the Oakden Report.

The development of positive workplace culture is important for health services, with implications for patient experience, staff wellbeing and service outcomes. The Oakden Report identified dysfunctional culture in the South Australian state-wide older persons' mental health service and established an agenda for change through a codesigned culture framework. An innovative culture change project was undertaken at Northgate House, a specialist service commissioned following the Oakden Report. The project built on the culture framework, with emphasis on developing psychological safety and employed principles from the deliberately developmental organisation model. The project resulted in positive outcomes for patients and staff and valuable organisational learning. Insights from the project may inform culture change journeys in a range of healthcare settings.

Proximal Upper Limb Sensorimotor Integration in Response to Novel Motor Skill Acquisition.

Previous studies have shown significant changes in cortical and subcortical evoked potential activity levels in response to motor training with the distal upper-limb muscles. However, no studies to date have assessed the neurological processing changes in somatosensory evoked potentials (SEPs) associated with motor training whole-arm movements utilizing proximal upper-limb muscles. The proximal upper-limb muscles are a common source of work-related injuries, due to repetitive glenohumeral movements. Measuring neurophysiological changes following performance of a proximal motor task provide insight into potential neurophysiological changes associated with occupational postures and movements involving proximal upper limb muscles. This study sought to assess the impact of a novel motor skill acquisition task on neural processing of the proximal upper-limb muscle groups, through the measurement of short-latency median nerve SEPs. One group of 12 participants completed a novel motor training task, consisting of tracing a sinusoidal waveform varying in amplitude and frequency. Baseline SEP measurements were recorded from each participant, followed by a mental recitation control task. Pre-test SEP measurements were then recorded, followed by the motor training task, and post-test SEP recordings. The participants completed the tracing with their right thumb, using glenohumeral rotation only to move their hand. Significant improvements in task accuracy were demonstrated, indicating that motor acquisition had occurred. Significant changes were also seen in the N11, N13, N20, N24, P25, and the N30 SEP peaks were seen following the motor training task. Conclusion: Early SEPs appear to be a sensitive measure of changes in sensorimotor integration in response to novel motor skill acquisition within the proximal upper-limb muscles.

STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics.

BACKGROUND: De novo loss of function mutations in STXBP1 are a relatively common cause of epilepsy and intellectual disability (ID). However, little is known about the types and severities of behavioural features associated with this genetic diagnosis. METHODS: To address this, we collected systematic phenotyping data encompassing neurological, developmental, and behavioural characteristics. Participants were 14 individuals with STXBP1-associated neurodevelopmental disorder, ascertained from clinical genetics and neurology services UK-wide. Data was collected via standardised questionnaires administered to parents at home, supplemented by researcher observations. To isolate discriminating phenotypes, the STXBP1 group was compared to 33 individuals with pathogenic mutations in other ID-associated genes (ID group). To account for the potential impact of global cognitive impairment, a secondary comparison was made to an ability-matched subset of the ID group (low-ability ID group). RESULTS: The STXBP1 group demonstrated impairments across all assessed domains. In comparison to the ID group, the STXBP1 group had more severe global adaptive impairments, fine motor difficulties, and hyperactivity. In comparison to the low-ability ID group, severity of receptive language and social impairments discriminated the STXBP1 group. A striking feature of the STXBP1 group, with reference to both comparison groups, was preservation of social motivation. CONCLUSIONS: De novo mutations in STXBP1 are associated with complex and variable neurodevelopmental impairments. Consistent features, which discriminate this disorder from other monogenic causes of ID, are severe language impairment and difficulties managing social interactions, despite strong social motivation. Future work could explore the physiological mechanisms linking motor, speech, and social development in this disorder. Understanding the developmental emergence of behavioural characteristics can help to focus clinical assessment and management after genetic diagnosis, with the long-term aim of improving outcomes for patients and families.

Key Worker-Mediated Enhancement of Physical Health in First Episode Psychosis: Protocol For a Feasibility Study in Primary Care.

BACKGROUND: Studies have demonstrated that, for patients with psychosis, a majority of the decline in health status and functioning emerges during the first few years after the onset of illness. This knowledge led to the development of specialized early intervention services (EISs) targeting patients experiencing their first episode of psychosis. The central component of EISs is often assertive case management delivered by a multidisciplinary team, where an appointed key worker is responsible for coordinating treatment and delivering various psychosocial interventions to service users. OBJECTIVE: This paper outlines the protocol for a feasibility study examining how key workers may enhance physical health by supporting integration between primary and secondary care. METHODS: Semistructured interviews were conducted with key stakeholder groups (General Practitioners and health care professionals working in mental health services). The interviews informed the development of the complex intervention involving a longitudinal pre-post intervention in 8 general practices in 2 regions in Ireland (one urban and one rural). Patients with first episode psychosis (FEP) will be identified from clinical records at general practices and mental health services. RESULTS: Baseline and follow-up data (at 6 months) will be collected, examining measures of feasibility, acceptability, and intervention effect size. CONCLUSIONS: Study findings will inform future practice by examining feasibility of key workers enhancing physical health through improved interaction between primary and secondary care. By identifying issues involved in enhancing recruitment and retention, as well as the likely effect size, the study will inform a future definitive intervention. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/13115.

Effect of a proficiency-based progression simulation programme on clinical communication for the deteriorating patient: a randomised controlled trial.

OBJECTIVE: This study aimed to determine the effectiveness of a proficiency-based progression (PBP) training approach to clinical communication in the context of a clinically deteriorating patient. DESIGN: This is a randomised controlled trial with three parallel arms. SETTING: This study was conducted in a university in Ireland. PARTICIPANTS: This study included 45 third year nursing and 45 final year medical undergraduates scheduled to undertake interdisciplinary National Early Warning Score (NEWS) training over a 3-day period in September 2016. INTERVENTIONS: Participants were prospectively randomised to one of three groups before undertaking a performance assessment of the ISBAR (Identification, Situation, Background, Assessment, Recommendation) communication tool relevant to a deteriorating patient in a high-fidelity simulation facility. The groups were as follows: (i) E, the Irish Health Service national NEWS e-learning programme only; (ii) E+S, the national e-learning programme plus standard simulation; and (iii) E+PBP, the national e-learning programme plus PBP simulation. MAIN OUTCOME MEASURES: The primary outcome was the proportion in each group reaching a predefined proficiency benchmark comprising a series of predefined steps, errors and critical errors during the performance of a standardised, high-fidelity simulation assessment case which was recorded and scored by two independent blinded assessors. RESULTS: 6.9% (2/29) of the E group and 13% (3/23) of the E+S group demonstrated proficiency in comparison to 60% (15/25) of the E+PBP group. The difference between the E and the E+S groups was not statistically significant (χ2=0.55, 99% CI 0.63 to 0.66, p=0.63) but was significant for the difference between the E and the E+PBP groups (χ2=22.25, CI 0.00 to 0.00, p<0.000) and between the E+S and the E+PBP groups (χ2=11.04, CI 0.00 to 0.00, p=0.001). CONCLUSIONS: PBP is a more effective way to teach clinical communication in the context of the deteriorating patient than e-learning either alone or in combination with standard simulation. TRIAL REGISTRATION NUMBER: NCT02886754; Results.

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.

BACKGROUND: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane. Studies have shown that pathogenic loss-of-function variants in this gene result in various types of epilepsies, mostly beginning early in life. We were interested to model pathogenic missense variants on the protein structure to investigate the mechanism of pathogenicity and genotype-phenotype correlations. METHODS: We report 11 patients with pathogenic de novo mutations in STXBP1 identified in the first 4293 trios of the Deciphering Developmental Disorder (DDD) study, including six missense variants. We analyzed the structural locations of the pathogenic missense variants from this study and the literature, as well as population missense variants extracted from Exome Aggregation Consortium (ExAC). RESULTS: Pathogenic variants are significantly more likely to occur at highly conserved locations than population variants, and be buried inside the protein domain. Pathogenic mutations are also more likely to destabilize the domain structure compared with population variants, increasing the proportion of (partially) unfolded domains that are prone to aggregation or degradation. We were unable to detect any genotype-phenotype correlation, but unlike previously reported cases, most of the DDD patients with STXBP1 pathogenic variants did not present with very early-onset or severe epilepsy and encephalopathy, though all have developmental delay with intellectual disability and most display behavioral problems and suffered seizures in later childhood. CONCLUSION: Variants across STXBP1 that cause loss of function can result in severe intellectual disability with or without seizures, consistent with a haploinsufficiency mechanism. Pathogenic missense mutations act through destabilization of the protein domain, making it prone to aggregation or degradation. The presence or absence of early seizures may reflect ascertainment bias in the literature as well as the broad recruitment strategy of the DDD study.

Delivery of information to orthodontic patients using social media.

DesignRandomised controlled trial in a hospital setting.InterventionBoth groups were given standard verbal and written information for patients receiving orthodontic treatment. In addition, patients in the intervention group received e-mails asking them to view a specifically designed YouTube unlisted video accessible through a web link in the e-mail. All patients were administered with a baseline questionnaire at bond-up which was repeated at six weeks.Outcome measureChange in question score from baseline.ResultsSixty-seven patients were randomised (control = 34; intervention = 34). Seven patients were lost to follow-up; four in the control and three in intervention group. In all the participants watched the video 90 times. Participants in the intervention group scored, on average, almost one point higher on the second questionnaire than did those in the control group (95% CI for the difference, 0.305-1.602; P = 0.005). Ethnicity had a statistically significant effect on improvement in knowledge, but sex did not.ConclusionsPresenting audiovisual information through the YouTube web site to orthodontic patients resulted in a significant improvement in patient knowledge. Supplementation of verbal and written patient information with audiovisual information via the internet is therefore worthy of consideration.

An evaluation of portion size estimation aids: Consumer perspectives on their effectiveness.

OBJECTIVE: This qualitative study aimed to investigate consumer opinions on the usefulness of portion size estimation aids (PSEA); consumer preferences in terms of format and context for use; and the level of detail of guidance considered necessary for the effective application of PSEA. DESIGN: Six focus groups (three to eight participants per group) were conducted to elicit views on PSEA. The discussions were recorded, transcribed verbatim and analysed by two independent researchers using a template approach. SETTING: The focus groups were conducted in 2013 by an experienced moderator in various sites across the island of Ireland (three in the Republic of Ireland and three in Northern Ireland) including local leisure, community and resource centres; the home environment; and a university meeting room. PARTICIPANTS: General population, males (n = 17) and females (n = 15) aged 18-64 years old. Participants were recruited from both urban and rural locations representing a range of socio-economic groups. RESULTS: The majority of participants deemed the coloured portion pots and disposable plastic cup (household measures) to be useful particularly for the estimation of amorphous cereal products (e.g. breakfast cereals). Preferences were evident for "visual" PSEA (reference objects, household measures and food packaging) rather than 'quantities and measures' such as weighing in grams or ounces. Participants stated that PS education should be concise, consistent, from a reputable source, initiated at school age and communicated innovatively e.g. mobile app or TV advertisement. Guidance in relation to gender, age and activity level was favoured over a "one size fits all" approach. CONCLUSIONS: This study identified consumer preferences and acceptance of "visual" PSEA such as portion pots/cups to estimate appropriate PS of amorphous grain foods such as breakfast cereals, pasta and rice. Concise information from a reputable source in relation to gender, age and activity level should accompany PSEA.

Suprathreshold measures of taste perception in children - Association with dietary quality and body weight.

Childhood obesity is an increasing problem in the Western world, and is affected by a multitude of interacting factors. Recent evidence suggests that taste perception may differ between obese and normal weight children. Evidence also suggests that perception of sweet and bitter taste is linked to differential food liking of various foods. To date, most studies have focused on single food items or food groups, rather than an overall view of dietary quality, and mainly on bitterness. Thus it is unclear whether taste perception is associated with dietary quality in children. Our objective was to examine the link between taste perception, dietary quality and body weight in Irish school children, in conjunction with other known influences of body weight. Taste perception was measured using the gLMS for bitter, salty and sweet stimuli. Detailed dietary intake data were collected from 525 children aged 7-13 via a 3-day diet history. Energy misreporters were identified and excluded from the dietary analyses, leaving n = 483 children. Dietary quality was assessed using Healthy Eating Index. Salivary DNA was collected and analyzed for variations in the bitter receptor gene TAS2R38. Sex differences were observed whereby intensity perception of sweetness was lower in the overweight/obese males, while no association was observed for sweet taste in the females. Despite the differences in weight status, taste perception was not associated with differences in overall dietary quality, measured via HEI score, in this cohort. Prospective cohort studies in children are necessary to better understand the association between taste intensity, food intake and weight over time.