Providers, and funders, of medical education must be prepared to assign significant resource to OSCE assessment and centres should be encouraged to calculate precise costs associated with assessment to inform resource allocation decisions.

The advent of whole-exome next-generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical application of WES has remained relatively unexplored. We describe our experience with WES as a diagnostic tool in a three-year old female patient with a two-year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work-up. WES was performed on the proband and her two parents. Parental exome data was used to filter de novo genomic events in the proband and suspected mutations were confirmed using di-deoxy sequencing. WES revealed a de novo non-synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband’s original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future.

Background Many Intensive Care Unit (ICU) survivors suffer from a multi- system disability, termed the post-intensive care syndrome. There is no current national coordination of either rehabilitation pathways or related data collection for them. In the last year, the need for tools to systematically identify the multidisciplinary rehabilitation needs of severely affected COVID-19 survivors has become clear. Such tools offer the opportunity to improve rehabilitation for all critical illness survivors through provision of a personalised Rehabilitation Prescription (RP). The initial development and secondary refinement of such an assessment and data tools is described in the linked paper. We report here the clinical and workforce data that was generated as a result. Methods Prospective service evaluation of 26 acute hospitals in England using the Post-ICU Presentation Screen (PICUPS) tool and the RP. The PICUPS tool comprised items in domains of a) Medical and essential care, b) Breathing and nutrition; c) Physical movement and d) Communication, cognition and behaviour. Results No difference was seen in total PICUPS scores between patients with or without COVID-19 (77 (IQR 60-92) vs. 84 (IQR 68-97); Mann-Whitney z = −1.46, p = 0.144. A network analysis demonstrated that requirements for physiotherapy, occupational therapy, speech and language therapy, dietetics and clinical psychology were closely related and unaffected by COVID-19 infection status. A greater proportion of COVID-19 patients were referred for inpatient rehabilitation (13% vs. 7%) and community-based rehabilitation (36% vs.15%). The RP informed by the PICUPS tool generally specified a greater need for multi-professional input when compared to rehabilitation plans instituted. Conclusions The PICUPS tool is feasible to implement as a screening mechanism for post-intensive care syndrome. No differences are seen in the rehabilitation needs of patients with and without COVID-19 infection. The RP could be the vehicle that drives the professional interventions across the transitions from acute to community care. No single discipline dominates the rehabilitation requirements of these patients, reinforcing the need for a personalised RP for critical illness survivors.

Background Patients who have had prolonged stays in intensive care have ongoing rehabilitation needs. This is especially true of COVID-19 ICU patients, who can suffer diverse long-term ill effects. Currently there is no systematic data collection to guide the needs for therapy input for either of these groups nor to inform planning and development of rehabilitation services. These issues could be resolved in part by the systematic use of a clinical tool to support decision-making as patients progress from the Intensive Care Unit (ICU), through acute hospital care and onwards into rehabilitation. We describe (i) the development of such a tool (the Post-ICU Presentation Screen (PICUPS)) and (ii) the subsequent preparation of a person-centred Rehabilitation Prescription (RP) to travel with the patient as they continue down the care pathway. Methods PICUPS development was led by a core group of experienced clinicians representing the various disciplines involved in post-ICU rehabilitation. Key constructs and item-level descriptors were identified by group consensus. Piloting was performed as part of wider clinical engagement in 26 acute hospitals across England. Development and validation of such a tool requires clinimetric analysis, and this was based on classical test theory. Teams also provided feedback about the feasibility and utility of the tool. Results Initial PICUPS design yielded a 24-item tool. In piloting, a total of 552 records were collated from 314 patients, of which 121 (38.5%) had COVID-19. No obvious floor or ceiling effects were apparent. Exploratory factor analysis provided evidence of uni-dimensionality with strong loading on the first principal component accounting for 51% of the variance and Cronbach’s alpha for the full-scale score 0.95 – although a 3-factor solution accounted for a further 21%. The PICUPS was responsive to change both at full scale- and item-level. In general, positive responses were seen regarding the tool’s ability to describe the patients during their clinical course, engage and flag the relevant professionals needed, and to inform what should be included in an RP. Conclusions The PICUPS tool has robust scaling properties as a clinical measure and is potentially useful as a tool for identifying rehabilitation needs as patients step down from ICU and acute hospital care.