Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.

Biallelic pathogenic variants in the COASY gene have been associated with two distinct disease phenotypes, that is, COASY-protein associated neurodegeneration (CoPAN) and pontocerebellar hypoplasia type 12 (PCH 12). We present two siblings that independently presented with significant hypotonia and respiratory insufficiency at birth. Comprehensive genetic testing revealed homozygous variants within COASY, however, the progressive clinical and neuroradiologic findings described here are unique and have not been described previously. Magnetic resonance imaging showed progressive diffuse parenchymal loss throughout the bilateral cerebral hemispheres and atrophy of the basal ganglia and brainstem. As such, this article brings forth two additional cases of COASY-related disorder with abnormal newborn screening acylcarnitine profiles resembling carnitine palmitoyl transferase 1a (CPT1a) deficiency in two siblings who presented at birth with contractures, marked hypotonia and absent respiratory drive.

Metabolic Syndrome Screening and Assertive Community Treatment: A Quality Improvement Study.

Metabolic syndrome defines a collection of cardiometabolic illnesses that predict risk for poor physical health and early death and is highly prevalent among those with serious mental illness. Despite recommendations for routine monitoring, those with serious mental illness frequently do not receive physical health screenings. We conducted a quality improvement (QI) project to increase rates of metabolic syndrome screening in three New York City Assertive Community Treatment (ACT) teams. The project, conducted from December 2010 to May 2011, involved educational sessions for staff and consumers and a systematic screening protocol. We collected complete metabolic syndrome screening measurements for 71% of participating ACT consumers. We found metabolic risk to be nearly universal among participants, with over half diagnosed with metabolic syndrome. We also found high rates of previously undiagnosed hypertension, diabetes, and dyslipidemia. We describe the resources and obstacles we encountered in our QI project to make systematic metabolic screening a routine part of ACT care. This QI project suggests that ACT teams can take a leadership role in screening their consumers for physical health issues, aligning with recent policy trends to better integrate behavioral health and primary care services.

Education Research: The Narrative Evaluation Quality Instrument: Development of a tool to assess the assessor.

OBJECTIVE: Determining the quality of narrative evaluations to assess medical student neurology clerkship performance remains a challenge. This study sought to develop a tool to comprehensively and systematically assess quality of student narrative evaluations. METHODS: The Narrative Evaluation Quality Instrument (NEQI) was created to assess several components within clerkship narrative evaluations: performance domains, specificity, and usefulness to learner. In this retrospective study, 5 investigators scored 123 narrative evaluations using the NEQI. Inter-rater reliability was estimated by calculating interclass correlation coefficients (ICC) across 615 NEQI scores. RESULTS: The average overall NEQI score was 6.4 (SD 2.9), with mean component arm scores of 2.6 for performance domains (SD 0.9), 1.8 for specificity (SD 1.1), and 2.0 for usefulness (SD 1.4). Each component arm exhibited moderate reliability: performance domains ICC 0.65 (95% confidence interval [CI] 0.58-0.72), specificity ICC 0.69 (95% CI 0.61-0.77), and usefulness ICC 0.73 (95% CI 0.66-0.80). Overall NEQI score exhibited good reliability (0.81; 95% CI 0.77-0.86). CONCLUSION: The NEQI is a novel, reliable tool to comprehensively assess the quality of narrative evaluation of neurology clerks and will enhance the study of interventions seeking to improve clerkship evaluation.