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This case report describes a girl who presented antenatal arthrogryposis and postnatal hypotonia, generalized and respiratory weakness, joint deformities particularly affecting the lower limbs and poor swallow. By 5 months, cataracts, abnormal electroretinograms, visual evoked potentials (VEPs) and global developmental impairments were recognized. No causative variants were identified on targeted gene panels. After her unexpected death at 11 months, gene-agnostic trio whole exome sequencing revealed a likely pathogenic de novo BICD2 missense variant, NM_001003800.1, c.593T>C, p.(Leu198Pro), confirming the diagnosis of spinal muscular atrophy lower extremity predominant type 2 (SMA-LED2). We propose that cataract, abnormal electroretinograms and VEPs are novel features of SMA-LED2.

To report the clinical and novel electrophysiological features in a child with POLG-related sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO). The proband, a male child of Indian descent, underwent serial systemic and ophthalmological evaluations from birth until 14 years of age. Eye examinations included visual acuity and extraocular movement assessments, fundus photography, spectral domain optical coherence tomography and full-field electroretinography (ERG). Detailed genetic testing was also performed. The child carried a homozygous mutation in POLG (c.911T > G/p.Leu304Arg) and manifested systemic features such as seizures, headaches, areflexia, hypotonia, myopathy and vomiting. The child’s distance visual acuity was 0.50 and 0.40 LogMAR in the right and left eyes, respectively. Bilateral ophthalmoplegia and ptosis were observed at 5 years of age. The dark-adapted (DA) ERG responses to 2.29 cd s m−2 and 7.6 cd s m−2 stimuli showed a markedly reduced b/a ratio; an electronegative configuration was noted to a DA 7.6 ERG. This is the first documented case of an electronegative ERG in a POLG-related disorder consistent with generalized rod ON-bipolar dysfunction. The rest of the proband’s systemic and ophthalmological features were consistent with SANDO but some features overlapped with other POLG-related disorders such as Alpers–Huttenlocher syndrome and autosomal dominant progressive external ophthalmoplegia demonstrating the wide phenotypic overlap expected due to POLG mutations.

IntroductionIn starting a new clinical placement, doctors in training must become aware of and apply standard operating procedures, as well as learn guidelines, simultaneously adjusting to new patient presentations, environments and personnel. This transition is thought to correlate with increased risk to patient safety, notably during the annual UK changeover. Mobile technologies are increasingly commonplace throughout the National Health Service. Clinicians at all levels are employing medical technology and applications (apps) with minimal local guidance. We set out to test the feasibility and utility of offering medical apps to out-of-hours (OOH) practitioners as an aid to clinical decision-making at point of patient contact. The theorised benefits were threefold: clinical education—real time support for clinical decision-making as one component of deliberate practice to build expert performance; decreased administrative burden–updating and accessing current guidelines; and service development—readily accessible feedback from users.MethodWe provided 32 devices in our emergency departments and OOH environments. The devices were preloaded with apps approved by our medical education department and clinical service leads to be used in support of care delivery.ResultsWe surveyed 123 clinical staff prior to the pilot discovering that 65% had used mobile apps to aid their decision-making. During our project, we saw the number of clinical users expand with our data series, suggesting the apps most useful to care delivery for this group of service providers.Future developmentsThere was huge enthusiasm for the project and we hope to maintain a clinician-led environment.

Background Postgraduate medical curricula contain mandatory procedural skills, including lumbar puncture, thoracocentesis and central venous cannulation. Simulated skills training can improve technical ability in laboratories but does this ensure safe clinical performance? We propose that the environment significantly affects procedural skill performance, and that using simulation in the ‘real-life’ clinical environment will bring us closer to ensuring safe and successful practice. Methodology The NHS Lothian Clinical Skills Mastery Programme was introduced in Edinburgh in 2013. For each procedural skill, trainees receive knowledge packs (written and video resources) and a 2-phase supervised simulated training programme. Phase 1: Skills lab (non-clinical) Phase 2: In situ (clinical environment) We are currently studying the development of a complex clinical procedural skill (lumbar puncture) by our trainees via our Mastery methodology, with particular focus on the impact of the environment on performance. This study takes the form of a randomised control trial, using 2 groups of candidates: Lab Simulation ‘vs. In Situ Simulation. Both groups undergo a series of formative, standard-set, checklist-based assessments, culminating in an assessment of simulated performance in situ . Results A combination of quantitative and qualitative data from our study will be presented. Conclusions and recommendations ‘Mastery Learning’ has an evidence base to support its methodology in the development of clinical skills in the USA. This study aims to expand the established literature, demonstrating measurable improvement in the simulated performance of a complex clinical procedural skill by UK trainees. The environment can negatively impact on skill performance and we believe that simulation within the clinical environment is the key to improving skill levels in a meaningful way. This dramatically improves fidelity and provides the additional challenge of progressing from motor skill to psychomotor, whereby trainees must employ their newly-acquired non-technical skills to ensure technical success and patient safety. References McGaghie W, Issenberg SB, Barsuk JH, et al . A critical review of simulation-based mastery learning with translational outcomes. Med Educ 2014;48:375–385 Barsuk JH, Cohen ER, Caprio T, et al . Simulation-based education with mastery learning improves residents’ lumbar puncture skills. Neurology 2012;79:132–7 Wayne DB, Barsuk JH, O’Leary K, et al . Mastery learning of thoracentesis skills by internal medicine residents using simulation technology and deliberate practice. J Hosp Med 2008;3:48–54

Bilateral idiopathic tonic pupil is characterized by enlarged pupils, poor response to light and accommodation, strong and tonic response to near stimuli, vermiform movements of the iris on slit-lamp examination, and cholinergic super-sensitivity. The authors present a case of a 10-year-old girl who was referred with abnormal pupils and complained of headaches. After ophthalmological and neurological examination, she was diagnosed as having migraine and secondary idiopathic bilateral tonic pupils. To the authors' knowledge, this is the first case of a child with bilateral Adie's pupil secondary to migraine to be reported. [J Pediatr Ophthalmol Strabismus 2010;47:e1–e2.]