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Understanding of the genetic factors and molecular mechanisms underlying neurodevelopmental disorders remains incomplete. In this study, authors show that microdeletions in the gene ANKS1B lead to loss of the neuronal synapse-enriched protein AIDA-1 and to a novel neurodevelopmental syndrome

The purpose of the present cross-sectional study was to examine dietary patterns and the prevalence of underweight, overweight, and obesity among Serbian children. Furthermore, the study analyzed the association between dietary patterns and weight status. A nationally representative sample of 6–9-year-old children (n = 3,067) was evaluated as part of the Fifth Round World Health Organization European Childhood Obesity Surveillance Initiative. The children's height and weight were measured by trained field examiners, while their parents or guardians filled paper versions of the food frequency questionnaire to collect information related to the child's breakfast habits and food and beverage intake. According to the International Obesity Task Force cut-off points, the overall prevalence of overweight (including obesity) and underweight were 28.9 and 8.1%, respectively. The majority of parents reported that their children (84.5%) had breakfast every day, while only 39.5 and 37% of children had daily fruit and vegetable consumption, respectively. The children who do not eat breakfast every day are more likely to be obese (OR = 1.50), while a higher intake frequency of nutrient-poor beverages such as soft drinks increases the risk of being not only overweight (OR = 1.32) but also underweight (OR = 1.39). Regular monitoring and understanding of dietary patterns and weight status is crucial to inform, design, and implement strategies to reduce national and global diet and obesity-related diseases. Urgent actions need to be taken from public policymakers to stop and reverse the increasing trend of overweight (including obesity) among Serbian children.

Rationale Swallow may be compromised in COPD leading to aspiration and adverse respiratory consequences. However, prevalence and consequences of detectable aspiration in stable COPD are not known. Objectives We tested the hypothesis that a significant number of patients with stable COPD will have detectable aspiration during swallow (prandial aspiration) and that they would experience more frequent severe acute exacerbations of COPD (AECOPD) over the subsequent 12 months. Methods Patients (n=151) with verified and stable COPD of all severities were recruited at a tertiary care hospital. Videofluoroscopy was conducted to evaluate aspiration using Rosenbek's scale for penetration–aspiration during 100-mL cup drinking. AECOPD was documented as moderate (antibiotics and/or corticosteroid treatment) or severe (emergency department admission or hospitalisation) over the ensuing 12 months. Measurements and main results Aspiration was observed in 30 out of 151 patients (19.9%, 18 males, 12 females; mean age 72.4 years). Patients with aspiration had more overall AECOPD events (3.03 versus 2 per patient; p=0.022) and severe AECOPD episodes (0.87 versus 0.39; p=0.032). Severe AECOPD occurred in more patients with aspiration (50% of patients versus 18.2%; OR 4.5, CI 1.9–10.5; p=0.001) and with silent aspiration (36.7% versus 18.2%; OR 2.6, CI 1.1–6.2; p=0.045). Aspiration was related to a shorter exacerbation-free period during the 12-month follow-up period (p=0.038). Conclusions Prandial aspiration is detectable in a subset of patients with COPD and was predictive of subsequent severe AECOPD. Studies to examine if the association is causal are essential to direct strategies aimed at prevention of aspiration and AECOPD.

BackgroundMisinformation about COVID-19 is common and has been spreading rapidly across the globe through social media platforms and other information systems. Understanding what the public knows about COVID-19 and identifying beliefs based on misinformation can help shape effective public health communications to ensure efforts to reduce viral transmission are not undermined. ObjectiveThis study aimed to investigate the prevalence and factors associated with COVID-19 misinformation in Australia and their changes over time. MethodsThis prospective, longitudinal national survey was completed by adults (18 years and above) across April (n=4362), May (n=1882), and June (n=1369) 2020. ResultsStronger agreement with misinformation was associated with younger age, male gender, lower education level, and language other than English spoken at home (P

BackgroundIn Australia in March 2020 a national public health directive required that non-essential workers stay at home, except for essential activities. These restrictions began easing in May 2020 as community transmission slowed.ObjectivesThis study investigated changes in COVID prevention behaviours from April-July 2020, and psychosocial predictors of these behaviours.MethodsAn Australia-wide (national) survey was conducted in April, with monthly follow-up over four months. Participants who were adults (18+ years), currently residing in Australia and who could read and understand English were eligible. Recruitment was via online social media. Analysis sample included those who provided responses to the baseline survey (April) and at least one subsequent follow-up survey (N = 1834 out of a possible 3216 who completed the April survey). 71.7% of the sample was female (n = 1,322). Principal components analysis (PCA) combined self-reported adherence across seven prevention behaviours. PCA identified two behaviour types: 'distancing' (e.g. staying 1.5m away) and 'hygiene' (e.g. washing hands), explaining 28.3% and 24.2% of variance, respectively. Distancing and hygiene behaviours were analysed individually using multivariable regression models.ResultsOn average, participants agreed with statements of adherence for all behaviours (means all above 4 out of 7). Distancing behaviours declined each month (p's < .001), whereas hygiene behaviours remained relatively stable. For distancing, stronger perceptions of societal risk, self-efficacy to maintain distancing, and greater perceived social obligation at baseline were associated with adherence in June and July (p'sConclusionHigh adherence to COVID prevention behaviours were reported in this social media sample; however, distancing behaviours tended to decrease over time. Belief in social responsibility may be an important aspect to consider in encouraging distancing behaviours. These findings have implications for managing a shift from government-imposed restrictions to individual responsibility.

Objectives: To explore the variation in understanding of, attitudes towards, and uptake of, health advice on coronavirus disease 2019 (COVID-19) during the 2020 pandemic stage 3 restrictions (‘lockdown’) by health literacy in the Australian population. Study design: National cross-sectional community survey. Setting: Australian general public. Participants: Adults aged over 18 years (N = 4362). Main outcome measures: Knowledge, attitudes and behaviours related to COVID-19; health literacy and sociodemographic factors. Results: People with inadequate health literacy had poorer understanding of COVID-19 symptoms (49% vs 68%; p < 0.001), were less able to identify behaviours to prevent infection (59% vs 72%; p < 0.001), and experienced more difficulty finding information and understanding government messaging about COVID-19 than people with adequate health literacy. People with inadequate health literacy were less likely to rate social distancing as important (6.1 vs 6.5; p < 0.001) and reported more difficulty with remembering and accessing medicines since lockdown (3.6 vs 2.7; p < 0.001). People with lower health literacy were also more likely to endorse misinformed beliefs about COVID-19 and vaccinations (in general) than those with adequate health literacy. The same pattern of results was observed among people who primarily speak a language other than English at home. Conclusion: Our findings show that there are important disparities in COVID-19–related knowledge, attitudes and behaviours according to people’s health literacy and language. These have the potential to undermine efforts to reduce viral transmission and may lead to social inequalities in health outcomes in Australia. People with the greatest burden of chronic disease are most disadvantaged, and are also most likely to experience severe disease and die from COVID-19. Addressing the health literacy, language and cultural needs of the community in public health messaging about COVID-19 must now be a priority in Australia.

BackgroundIn response to the COVID-19 pandemic, telehealth has rapidly been adopted to deliver health care services around the world. To date, studies have not compared people’s experiences with telehealth services during the pandemic in Australia to their experiences with traditional in-person visits. ObjectiveThis study aimed to compare participants’ perceptions of telehealth consults to their perceptions of traditional in-person visits and investigate whether people believe that telehealth services would be useful after the pandemic. MethodsA national, cross-sectional, community survey was conducted between June 5 and June 12, 2020 in Australia. In total, 1369 participants who were aged ≥18 years and lived in Australia were recruited via targeted advertisements on social media (ie, Facebook and Instagram). Participants responded to survey questions about their telehealth experience, which included a free-text response option. A generalized linear model was used to estimate the adjusted relative risks of having a poorer telehealth experience than a traditional in-person visit experience. Content analysis was performed to determine the reasons why telehealth experiences were worse than traditional in-person visit experiences. ResultsOf the 596 telehealth users, the majority of respondents (n=369, 61.9%) stated that their telehealth experience was “just as good as” or “better than” their traditional in-person medical appointment experience. On average, respondents perceived that telehealth would be moderately useful to very useful for medical appointments after the COVID-19 pandemic ends (mean 3.67, SD 1.1). Being male (P=.007), having a history of both depression and anxiety (P=.016), and lower patient activation scores (ie, individuals’ willingness to take on the role of managing their health/health care) (P=.036) were significantly associated with a poor telehealth experience. In total, 6 overarching themes were identified from free-text responses for why participants’ telehealth experiences were poorer than their traditional in-person medical appointment experiences, as follows: communication is not as effective, limitations with technology, issues with obtaining prescriptions and pathology results, reduced confidence in their doctor, additional burden for complex care, and inability to be physically examined. ConclusionsBased on our sample’s responses, telehealth appointment experiences were comparable to traditional in-person medical appointment experiences. Telehealth may be worthwhile as a mode of health care delivery while the pandemic continues, and it may continue to be worthwhile after the pandemic.

BackgroundLow health literacy is associated with poorer health outcomes. A key strategy to address health literacy is a universal precautions approach, which recommends using health-literate design for all health interventions, not just those targeting people with low health literacy. This approach has advantages: Health literacy assessment and tailoring are not required. However, action plans may be more effective when tailored by health literacy. This study evaluated the impact of health literacy and action plan type on unhealthy snacking for people who have high BMI or type 2 diabetes (Aim 1) and the most effective method of action plan allocation (Aim 2).Methods and findingsWe performed a 2-stage randomised controlled trial in Australia between 14 February and 6 June 2019. In total, 1,769 participants (mean age: 49.8 years [SD = 11.7]; 56.1% female [n = 992]; mean BMI: 32.9 kg/m2 [SD = 8.7]; 29.6% self-reported type 2 diabetes [n = 523]) were randomised to 1 of 3 allocation methods (random, health literacy screening, or participant selection) and 1 of 2 action plans to reduce unhealthy snacking (standard versus literacy-sensitive). Regression analysis evaluated the impact of health literacy (Newest Vital Sign [NVS]), allocation method, and action plan on reduction in self-reported serves of unhealthy snacks (primary outcome) at 4-week follow-up. Secondary outcomes were perceived extent of unhealthy snacking, difficulty using the plans, habit strength, and action control. Analyses controlled for age, level of education, language spoken at home, diabetes status, baseline habit strength, and baseline self-reported serves of unhealthy snacks. Average NVS score was 3.6 out of 6 (SD = 2.0). Participants reported consuming 25.0 serves of snacks on average per week at baseline (SD = 28.0). Regarding Aim 1, 398 participants in the random allocation arm completed follow-up (67.7%). On average, people scoring 1 SD below the mean for health literacy consumed 10.0 fewer serves per week using the literacy-sensitive action plan compared to the standard action plan (95% CI: 0.05 to 19.5; p = 0.039), whereas those scoring 1 SD above the mean consumed 3.0 fewer serves using the standard action plan compared to the literacy-sensitive action plan (95% CI: -6.3 to 12.2; p = 0.529), although this difference did not reach statistical significance. In addition, we observed a non-significant action plan × health literacy (NVS) interaction (b = -3.25; 95% CI: -6.55 to 0.05; p = 0.054). Regarding Aim 2, 1,177 participants across the 3 allocation method arms completed follow-up (66.5%). There was no effect of allocation method on reduction of unhealthy snacking, including no effect of health literacy screening compared to participant selection (b = 1.79; 95% CI: -0.16 to 3.73; p = 0.067). Key limitations include low-moderate retention, use of a single-occasion self-reported primary outcome, and reporting of a number of extreme, yet plausible, snacking scores, which rendered interpretation more challenging. Adverse events were not assessed.ConclusionsIn our study we observed nominal improvements in effectiveness of action plans tailored to health literacy; however, these improvements did not reach statistical significance, and the costs associated with such strategies compared with universal precautions need further investigation. This study highlights the importance of considering differential effects of health literacy on intervention effectiveness.Trial registrationAustralia and New Zealand Clinical Trial Registry ACTRN12618001409268.

Objective To assess different strategies for communicating to older adults about stopping cancer screening.Design 4 (recommendation statement about stopping screening)×(2; time) online survey-based randomised controlled trial.Setting Australia.Participants 271 English-speaking participants, aged 65–90, screened for breast/prostate cancer at least once in past decade.Interventions Time 1: participants read a scenario in which their general practitioner (GP) informed them about the potential benefits and harms of cancer screening, followed by double-blinded randomisation to one of four recommendation statements to stop screening: control (‘this screening test would harm you more than benefit you’), health status (‘your other health issues should take priority’), life expectancy framed positively (‘this test would not help you live longer’) and negatively (‘you may not live long enough to benefit’). Time 2: in a follow-up scenario, the GP explained why guidelines changed over time (anchoring bias intervention).Measures Primary outcomes: screening intention and cancer anxiety (10-point scale, higher=greater intention/anxiety), measured at both time points. Secondary outcomes: trust (in their GP, the information provided, the Australian healthcare system), decisional conflict and knowledge of the information presented.Results 271 participants’ responses analysed. No main effects were found. However, screening intention was lower for the negatively framed life expectancy versus health status statement (6.0 vs 7.1, mean difference (MD)=1.1, p=0.049, 95% CI 0.0 to 2.2) in post hoc analyses. Cancer anxiety was lower for the negatively versus positively framed life expectancy statement (4.8 vs 5.8, MD=1.0, p=0.025, 95% CI 0.1 to 1.9). The anchoring bias intervention reduced screening intention (MD=0.8, p=0.044, 95% CI 0.6 to 1.0) and cancer anxiety (MD=0.3, p=0.002, 95% CI 0.1 to 0.4) across all conditions.Conclusion Older adults may reduce their screening intention without reporting increased cancer anxiety when clinicians use a more confronting strategy communicating they may not live long enough to benefit and add an explicit explanation why the recommendation has changed.Trial registration number Australian New Zealand Clinical Trials Registry (ACTRN12618001306202; Results).

Recent developments in the understanding of the relationship between the microbiota and its host have provided evidence regarding the therapeutic potential of selected microorganisms to prevent or treat disease. According to Directive 2001/83/EC, in the European Union (EU), any product intended to prevent or treat disease is defined as a medicinal product and requires a marketing authorization by competent authorities prior to commercialization. Even if the pharmaceutical regulatory framework is harmonized at the EU level, obtaining marketing authorisations for medicinal products remains very challenging for Live Biotherapeutic Products (LBPs). Compared to other medicinal products currently on the market, safety assessment of LBPs represents a real challenge because of their specific characteristics and mode of action. Indeed, LBPs are not intended to reach the systemic circulation targeting distant organs, tissues, or receptors, but rather exert their effect through direct interactions with the complex native microbiota and/or the modulation of complex host-microbiota relation, indirectly leading to distant biological effects within the host. Hence, developers must rely on a thorough risk analysis, and pharmaceutical guidelines for other biological products should be taken into account in order to design relevant non-clinical and clinical development programmes. Here we aim at providing a roadmap for a risk analysis that takes into account the specificities of LBPs. We describe the different risks associated with these products and their interactions with the patient. Then, from that risk assessment, we propose solutions to design non-clinical programmes and First in Human (FIH) early clinical trials appropriate to assess LBP safety.

BackgroundChildren and adolescents with autism spectrum disorder (ASD) are a highly medicated group. Few studies have examined the neuropsychiatric profile and patterns of psychotropic medication use among adults with ASD.AimsTo describe and compare the neuropsychiatric profile and psychotropic medication use in a cohort of adults with ASD and non-autistic controls.MethodBaseline data from a survey-based, longitudinal study of adults with ASD in Australia. Participants were 188 adults with ASD and 115 controls aged 25–80 years.ResultsASD was associated with increased odds of psychotropic medication use even when controlling for the presence of any neurological or psychiatric disorder. There were no corresponding indications for 14.4% of psychotropic medications prescribed to adults with ASD.ConclusionsThis study found substantial psychotropic prescribing for adults with ASD. Patterns of psychotropic medication use may reflect prescribing for behavioural indications despite limited evidence to support this practice.Declaration of interestNone.

Abstract Background Individuals with intellectual disability experience higher rates of physical and mental health conditions compared with the general population, yet have inequitable access to health care services. Improving the workplace capacity of medical professionals to meet the needs of this population is one way to reduce barriers to care and improve health outcomes. Using diverse pedagogy appropriate to learning outcomes to teach medical students about intellectual disability is a necessary step in improving future workplace capacity. However, there is a lack of research into how, and by whom, medical students are taught about intellectual disability. The aim of this study was to investigate this through an audit of Australian medical school curricula. Methods The Deans of Australian universities that provide accredited medical degrees (n = 20) were invited by email to participate in a two-phase audit of intellectual disability content in the curricula. Phase 1 (n = 14 schools) involved the Dean’s delegate completing a telephone interview or questionnaire regarding medical course structure. If intellectual disability content was identified, a unit coordinator was invited to complete a survey regarding how this content was taught and by whom (Phase 2; n = 12 schools). Results There was considerable variability across Australian medical schools regarding methods used to teach content about intellectual disability. Didactic teaching methods were most frequently used (62% of units included some form of lecture), but workshops and tutorials were reasonably well represented (34% of units contained one or both). Thirty-six percent of units included two or more teaching methods. Almost all schools (83%) used some problem- and/or enquiry-based learning. Educator backgrounds included medicine, nursing, and allied health. A majority of schools (n = 9, 75%) involved people with intellectual disability designing and teaching content, but the extent to which this occurred was inconsistent. Conclusions Renewing curricula around intellectual disability across all medical schools by introducing varied teaching methods and the inclusion of people with intellectual disability would assist students to develop knowledge, skills, attitudes, and confidence in intellectual disability health. Such renewal offers the potential to reduce barriers to service this population regularly face, thereby improving their health outcomes.

Abstract Background Chronic fatigue syndrome (CFS) and major depressive disorder (MDD) are both debilitating but heterogeneous conditions sharing core features of fatigue, unrefreshing sleep, and impaired functioning. The aetiology of these conditions is not fully understood, and ‘best-practice’ treatments are only moderately effective in relieving symptoms. Unrecognised individual differences in the response to such treatments are likely to underlie poor treatment outcomes. Methods/design We are undertaking a two-group, parallel, randomised controlled trial (RCT) comparing the effects of a personalised relaxation intervention on sleep quality, daytime symptoms, and functioning in patients with CFS (n = 64) and MDD (n = 64). Following identification of the method that best enhances autonomic responding (such as heart rate variability), participants randomised to the active intervention will practise their recommended method nightly for 4 weeks. All participants will keep a sleep diary and monitor symptoms during the trial period, and they will complete two face-to-face assessments, one at baseline and one at 4 weeks, and a further online assessment to evaluate lasting effects of the intervention at 2 months. Assessments include self-report measures of sleep, wellbeing, and function and monitoring of autonomic responses at rest, in response to the relaxation method and during nocturnal sleep. Treatment outcomes will be analysed using linear mixed modelling. Discussion This is the first RCT examining the effects of a personalised relaxation intervention, pre-tested to maximise the autonomic relaxation response, in patients with unrefreshing sleep and fatigue attributed to CFS or MDD. Detailed monitoring of sleep quality and symptoms will enable sensitive detection of improvements in the core symptoms of these debilitating conditions. In addition, repeated monitoring of autonomic functioning can elucidate mechanisms underlying potential benefits. The findings have translational potential, informing novel, personalised symptom management techniques for these conditions, with the potential for better clinical outcomes. Trial registration Australian and New Zealand Clinical Trials Registry (ANZCTR), ACTRN12616001671459. Registered on 5 December 2016.