Celiac disease (CD), an autoimmune disorder triggered by gluten, impacts about one percent of the population. Only one-third receive a diagnosis, leaving the majority unaware of their condition. Untreated CD can lead to gut lining damage, resulting in malnutrition, anemia, and osteoporosis. Our primary goal was to identify at-risk groups and assess the cost-effectiveness of active case finding in primary care.

Our methodology involved systematic reviews and meta-analyses focusing on the accuracy of CD risk factors (chronic conditions and symptoms) and diagnostic tests (serological and genetic). Prediction models, based on identified risk factors, were developed for identifying individuals who would benefit from CD testing in routine primary care. Additionally, an online survey gauged individuals’ preferences regarding diagnostic certainty before initiating a gluten-free diet. This information informed the development of economic models evaluating the cost-effectiveness of various active case finding strategies.

Individuals with dermatitis herpetiformis, a family history of CD, migraine, anemia, type 1 diabetes, osteoporosis, or chronic liver disease showed one and a half to two times higher risk of having CD. IgA tTG, and EMA demonstrated good diagnostic accuracy. Genetic tests showed high sensitivity but low specificity. Survey results indicated substantial variation in preference for certainty from a blood test before initiating a gluten-free diet. Cost-effectiveness analyses showed that, in adults, IgA tTG at a one percent pre-test probability (equivalent to population screening) was the most cost effective. For non-population screening strategies, IgA EMA plus HLA was most cost effective. There was substantial uncertainty in economic model results.

While population-based screening with IgA tTG appears the most cost effective in adults, decisions for implementation should not solely rely on economic analyses. Future research should explore whether population-based CD screening aligns with UK National Screening Committee criteria and requires a long-term randomized controlled trial of screening strategies.

Most patients with long-term conditions (LTC) receive regular blood tests to monitor disease progression and response to treatment and to detect complications. There is currently no robust evidence to inform recommendations on monitoring. Creating this evidence base is challenging because the benefits and harms of testing are dependent on what is done in response to the test results.

We identified a list of commonly used tests. We defined a series of filtering questions to determine whether there was evidence to support the rationale of monitoring, such as “Can the general practitioner do anything in response to an abnormal test result?” Through a series of rapid reviews we identified evidence to answer each question. The evidence was presented at a consensus meeting where clinicians and patients voted for inclusion, exclusion, or further analysis. A process evaluation was performed alongside this. Further analyses were performed using routinely collected healthcare data and by performing incidence analyses, emulating randomized controlled trials (RCTs), and modeling disease progression.

We tested this methodology on three common LTCs: chronic kidney disease (CKD), type 2 diabetes mellitus (T2DM), and hypertension. We found sufficient evidence to include hemoglobin A1C and estimated glomerular filtration rate (eGFR) for monitoring patients with T2DM; hemoglobin and eGFR for patients with CKD; and eGFR for patients with hypertension. The consensus panel excluded four tests, while 10 tests were selected for further analysis. The emulated RCTs will investigate the effect of regular monitoring with certain tests on health outcomes among routinely monitored patients. In addition, we will investigate the signal-to-noise ratio of each test over time using a modeling approach.

The cost effectiveness of the evidence-based testing panels needs to be tested in clinical practice. We are currently developing an intervention package and are planning to run a feasibility trial. This program of work has the potential to change how LTCs are monitored in primary care, ultimately improving patient outcomes and leading to more efficient use of healthcare resources.

Children with attention-deficit/hyperactivity disorder (ADHD) commonly exhibit impairments in their executive functions. Caregivers are primarily responsible for the daily management of their children's ADHD and executive functioning difficulties. Psychoeducation, a cornerstone of ADHD treatment, can empower caregivers by providing them the knowledge and resources they require to support their child with ADHD. This study examined the efficacy of a suite of six caregiver psychoeducation sessions delivered by a specialised ADHD service. Two of these sessions pertained to (i) Understanding ADHD and (ii) Executive Functioning in ADHD. The other four covered information around Family Self-Care and Stress Management, Social Connectedness and Communication, Sensory Processing and Self-Regulation in ADHD and, Medication.

All sessions were delivered between May 2016 and July 2022, in 2 to 3-hour sessions each. Caregivers completed pre and post-session questionnaires, rating (i) their understanding of each of the topics, (ii) whether they identified effective strategies to help their child with ADHD meet their needs, and (iii) whether they improved their knowledge of resources they can access to assist with ADHD management. Altogether, 666 caregiver responses were collected across all sessions, 35% (n=234) of which were from the Understanding ADHD sessions and 4.2% (n = 28) from the Executive Functioning sessions.

Wilcoxon signed-rank tests with Bonferroni adjusted alpha level of 0.016 were conducted to examine each session's pre- and post-session responses. Results showed that the Understanding ADHD workshops impelled significant improvements in attendee-rated levels of topic understanding (z = -8.79, p <.001, r = -.41), strategies gained (z = -8.54, p <.001, r = -.40) and perceived resource accessibility (z = -6.40, p <.001, r = -.30). Attendees reported moderate to large improvements following the Executive Functioning in ADHD sessions, including in their topic understanding (z = -4.18, p <.001, r = -.57), strategies gained (z = -3.93, p <.001, r = -.54) and perceived resource accessibility (z = -4.23, p <.001, r = -.61). Improvements across all three areas were also noted across the other four caregiver sessions, except for the medication session where no significant changes in strategies gained and perceived access to resources were noted.

This study provides evidence that caregiver sessions within a Tier-4 service are efficacious and can (i) meet caregivers' needs to better understand ADHD, executive functioning difficulties as well as of other ADHD-related issues, and (ii) may equip caregivers with the knowledge to access resources to appropriately manage their children with ADHD - a possible precursor to improved clinical and functional outcomes in children. That the session on ADHD medications only led to improved understanding of the topic but not to perceived gains in strategies or perceived access to strategies could be attributed to low pre-and post-session questionnaire response rates as well as to the nature of those sessions which were purely informative and did not discuss strategies and resources. Nonetheless, longitudinal studies, with control groups, should determine whether any post-intervention improvements are sustained over time and should establish whether these are associated with improved outcomes in children.

Many patients with Fontan physiology are unable to achieve the minimum criteria for peak effort during cardiopulmonary exercise testing. The purpose of this study is to determine the influence of physical activity and other clinical predictors related to achieving peak exercise criteria, signified by respiratory exchange ratio ≥ 1.1 in youth with Fontan physiology.

Secondary analysis of a cross-sectional study of 8–18-year-olds with single ventricle post-Fontan palliation who underwent cardiopulmonary exercise testing (James cycle protocol) and completed a past-year physical activity survey. Bivariate associations were assessed by Wilcoxon rank-sum test and simple regression. Conditional inference forest algorithm was used to classify participants achieving respiratory exchange ratio > 1.1 and to predict peak respiratory exchange ratio.

Of the n = 43 participants, 65% were male, mean age was 14.0 ± 2.4 years, and 67.4% (n = 29) achieved respiratory exchange ratio ≥ 1.1. Despite some cardiopulmonary exercise stress test variables achieving statistical significance in bivariate associations with participants achieving respiratory exchange ratio > 1.1, the classification accuracy had area under the precision recall curve of 0.55. All variables together explained 21.4% of the variance in respiratory exchange ratio, with peak oxygen pulse being the most informative.

Demographic, physical activity, and cardiopulmonary exercise test measures could not classify meeting peak exercise criteria (respiratory exchange ratio ≥ 1.1) at a satisfactory accuracy. Correlations between respiratory exchange ratio and oxygen pulse suggest the augmentation of stroke volume with exercise may affect the Fontan patient’s ability to sustain high-intensity exercise.

To identify and quantify clinical features associated with a future diagnosis of type 2 diabetes, and to record pathways to the diagnosis of diabetes.

The risk of type 2 diabetes posed by particular symptoms is largely unknown, especially in unselected populations like primary care. The current mode and setting of diagnosis in the UK are undescribed.

This was a population-based case–control study in seven general practices in Bristol, UK. In this study, 105 cases with newly diagnosed diabetes, and 105 age- and sex-matched controls were studied. Their primary care records for two years before diagnosis were examined for symptoms previously reported to be associated with diabetes and for abnormal investigations. Differences between cases and controls were analysed by conditional logistic regression. In cases, the pathways to the diagnosis of diabetes were categorised.

In all, 42 (40%) adults with newly diagnosed diabetes were asymptomatic at diagnosis and 84 (80%) were first detected in primary care. Five clinical features were independently associated with diabetes in multivariable analyses. Likelihood ratios for these were: thirst 36 (95% confidence interval 3.0, 440), P = 0.005; weight loss 5.7 (1.3, 26), P = 0.022; skin infections 4.6 (1.7, 12), P = 0.002; fasting glucose >5.6 mmol/L 38 (2.2, 640), P = 0.012; and random glucose >5.6 mmol/L 15 (2.5, 94), P = 0.003. The median time period between the onset of symptoms and diagnosis was short (8 days) in patients presenting with thirst, but much longer for those with weight loss (294 days) and skin infections (463 days). Over a quarter of patients had raised blood glucose readings, which were not followed up in the two years before diagnosis was made.

Most patients with type 2 diabetes are diagnosed in primary care. Many are asymptomatic at diagnosis. Earlier diagnosis of diabetes may be possible by considering diabetes in patients with weight loss and skin infections, and ensuring that borderline abnormal tests are adequately followed up.