Realist evaluation of Autism ServiCe Delivery (RE-ASCeD): which diagnostic pathways work best, for whom and in what context? Findings from a rapid realist review

ObjectivesWaiting times in the UK for an autism diagnostic assessment have increased rapidly in the last 5 years. This review explored research (including ‘grey’ literature) to uncover the current evidence base about autism diagnostic pathways and what works best, for whom and in what circumstances, to deliver high quality and timely diagnosis.DesignWe performed a Rapid Realist Review consistent with recognised standards for realist syntheses. We collected 129 grey literature and policy/guidelines and 220 articles from seven databases (January 2011–December 2019). We developed programme theories of how, why and in what contexts an intervention worked, based on cross comparison and synthesis of evidence. The focus was on identifying factors that contributed to a clearly defined intervention (the diagnostic pathway), associated with specific outcomes (high quality and timely), within specific parameters (Autism diagnostic services in Paediatric and Child & Adolescent Mental Health services in the UK). Our Expert Stakeholder Group, including representatives from local parent forums, national advocacy groups and clinicians, was integral to the process.ResultsBased on 45 relevant articles, we identified 7 programme theories that were integral to the process of diagnostic service delivery. Four were related to the clinical pathway: initial recognition of possible autism; referral and triaging; diagnostic model; and providing feedback to parents. Three programme theories were pertinent to all stages of the referral and diagnostic process: working in partnership with families; interagency working; and training, service evaluation and development.ConclusionsThis theory informed review of childhood autism diagnostic pathways identified important aspects that may contribute to efficient, high quality and family-friendly service delivery. The programme theories will be further tested through a national survey of current practice and in-depth longitudinal case studies of exemplar services.Trial registration numberNCT04422483.

Cost analysis of managing B3 breast lesions by vacuum excision at Leeds Breast Unit using a decision model

ObjectiveTo develop an economic model to evaluate the cost of using vacuum-assisted excision (VAE) for managing B3 breast lesions.DesignA decision tree of managing B3 breast lesions was developed to compare the costs of VAE with diagnostic excision (DE) from the perspective of the healthcare provider. Two different diagnostic pathways were compared which describe alternative approaches to the management of B3 lesions using inputs derived from a mix of primary and secondary data.SettingBased on a study conducted at Leeds Breast Unit, UK.Participants398 patients enter the model having undergone initial core needle biopsy, or vacuum-assisted biopsy, and diagnosed with B3 breast lesion.Main outcome measuresThe economic impact, in terms of cost, of various scenarios using analysis of extremes and probabilistic sensitivity analysis.ResultsVAE reduced the cost per patient by £1510.75. Analysis of extremes showed that managing B3 lesions using VAE was cost saving except the case where a combination of the highest cost associated with VAE and the lowest cost for DE were used. Probabilistic sensitivity analysis showed that using VAE for managing B3 lesions has a probability of 0.9 of being cost saving compared with using DE.ConclusionThis analysis shows the potential cost saving of using VAE as an alternative for managing B3 breast lesions compared with DE. Further research in this area and the effect of the VAE on patients’ quality of life is warranted.

Diagnostics in Patients Suspect for Breast Cancer in The Netherlands

The goal of this study was to describe the variation in hospital-based diagnostic care activities for patients with symptomatology suspect for breast cancer in The Netherlands. Two cohorts were included: the ‘benign’ cohort (30,334 women suspected of, but without breast cancer) and the ‘malignant’ cohort (2236 breast cancer patients). Hospital-based financial data was combined with tumor data (malignant cohort) from The Netherlands Cancer Registry. Patterns within diagnostic pathways were analyzed. Factors influencing the number of visits and number of diagnostic care activities until diagnosis were identified in the malignant cohort with multivariable Cox and Poisson regression models. Compared to patients with benign diagnosis, patients with malignant disease received their diagnosis less frequently in one day, after an equal average number of hospital visits and higher average number of diagnostic activities. Factors increasing the number of diagnostic care activities were the following: lower age and higher cM-and cN-stages. Factors increasing the number of days until (malignant) diagnosis were as follows: higher BIRADS-score, screen-detected and higher cN-and cT-stages. Hospital of diagnosis influenced both number of activities and days to diagnosis. The diagnostic care pathway of patients with malignant disease required more time and diagnostic activities than benign disease and depends on hospital, tumor and patient characteristics.

Acquired Muscle Disorders

Muscle diseases consist of various disorders that primarily affect skeletal muscle, but they can also affect cardiac or smooth muscle. The disorders may be inherited or acquired. The pathophysiology, clinical manifestations, diagnostic pathways, and treatment options will vary for each disorder. This chapter reviews common acquired muscle disorders. Inflammatory myopathies are characterized by muscle weakness and inflammatory reaction in muscle, and often, but not always, are accompanied by elevated creatine kinase values. They can occur with infections, systemic inflammatory diseases, or they may be idiopathic. On the basis of clinical, histologic, and immunopathologic criteria, idiopathic inflammatory myopathies can be distinguished as dermatomyositis, polymyositis, or inclusion body myositis. When dermatomyositis or polymyositis occurs in association with a connective tissue disease, the disorder is called overlap syndrome.

Impact of COVID-19 pandemic on appropriateness of diagnostic pathways of autoimmune diseases

Objective Early diagnosis of autoimmune rheumatic diseases (ARD) is key to achieving effective treatment and improved prognosis. The coronavirus disease 2019 (COVID-19) pandemic has led to major changes in clinical practice on a global scale. We aimed to evaluate the impact of the COVID-19 pandemic on rheumatological clinical practices and autoimmunity testing demands. Methods Data regarding first rheumatological visits and new diagnosis together with the autoimmunity laboratory testing volumes related to COVID-19 pandemic phase (January- December 2020), were collected from medical records and laboratory information system (LIS) of a regional reference hospital (Basilicata, Italy) and compared with those obtained during the corresponding period in 2019. Results A significant decrease in the 2020 autoimmunity laboratory test volume was found when compared with the same period in 2019 (9912 vs 14100, p<0.05). A significant decrease in first rheumatological visits and diagnosis (1272 vs 2336, p<0.05) was also observed. However, an equivalent or higher percentage of positive autoimmunity results from outpatients services were recorded during 2020 when compared to pre-pandemic state. Of note, COVID- 19 associated decline in new diagnosis mainly affected less severe diseases. In contrast, ARD with systemic involvement were diagnosed at the same levels as the pre-pandemic period. Conclusion The COVID-19 pandemic has impacted on the access to health services. However, our study highlighted that during the outbreak, greater appropriateness of the requests of laboratory test and visits emerged as shown by a greater percentage of positive testing results and new diagnosis of more severe ARD compared to pre-pandemic period.

SP4.1.5The use of Faecal Immunochemical Testing (FIT) and Minimal Preparation Computed Tomography (MPCT) during COVID-19 for Urgent Suspected Cancer (USC) referrals in patients with lower gastro-intestinal symptoms

Aims The COVID-19 pandemic necessitated introduction of revised diagnostic pathways for assessing Urgent Suspected Cancer (USC) referrals. Combinations of FIT and MPCT were used to manage referrals and prioritise access to clinical services or invasive tests. The effectiveness of these pathways are evaluated in this study. Methods All consecutive patients referred from primary care on the USC pathway between 15th March – 15th June 2020 were included to reflect the effect of full lockdown measures. Data collected included demographics, presenting symptom(s), investigations and timelines and patient outcomes up to 90 days following initial referral. Results 816 patients across 8 sites in Wales were included in this initial analysis. 52.7% of patients were female with median age 69 (21 – 97) years. Of the 50.7% who had first-line clinical review, 70.5% were virtual consultations. 49.3% had primary investigations, with FIT in 31% of patients and MPCT in 18.3%. This was compliant with locally agreed pathways for 77.3% of referrals. COVID-response pathways achieved a 28.5% reduction in use of colonoscopy as first-line investigation and 84.3% of patients avoided face-to-face consultations altogether during this first wave of the pandemic. Overall, 5.6% of USC referrals were diagnosed with CRC. Median timescale from diagnosis to treatment for CRC was 82 (4 – 175) days. The NPV for FIT in this cohort was 99.5%. MPCT as the first modality had a NPV of 99%. Conclusion A modified investigation pathway maintained cancer diagnosis during the pandemic with improved resource utilisation to that used previously.

SP4.1.10 Colorectal Cancer Services During the First Wave of the COVID-19 Pandemic

Aims During the first wave of the COVID-19 pandemic, UK health services ceased National Bowel Cancer Screening programme and non-emergency diagnostic services were halted. This retrospective study evaluated the colorectal cancer (CRC) service at a district general hospital during that period by comparing the CRC services from 31/03/2020 to 28/06/2020 to services offered during the same 3-month period of the previous year. Methods 65 patients were included in the study (47 from 2019 and 18 from 2020). Demographics, referral modes, treatment aims and Dukes cancer staging at diagnosis were compared. À2 and Fisher’s exact tests were used. Results There was a 61.7% decrease in the volume of patients managed and 65.7% reduction in operations relative to the previous year. The mean age(years) of 66.6 (S.D 14.1) during the pandemic was lower than the average during the non-COVID year (75.5(S.D 13)) but gender distribution was similar. COVID-year referrals originated from rapid access pathway (61%), emergency (28%), routine referrals (11%), screening (0%) compared to 56%, 21%, 21%, and 2% respectively during the non-COVID period. Dukes staging varied with Dukes D doubling (39% vs 17%) and no Dukes A (6% in 2019) during the pandemic. The treatment goal during the pandemic was palliative in 44% vs 32% in the other group. Conclusion Cessation of non-emergency diagnostic pathways that support identification of early disease contributed to diagnostic delays with increased proportion of palliative/Dukes D disease. Normal CRC services should be sustained during future pandemics to avoid missing curable disease.