Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.

White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features associated with PTEN mutations, such as autism spectrum disorder (ASD) or developmental delay, has not been well established. We report nine patients with PTEN mutations and white matter changes on brain magnetic resonance imaging (MRI), eight of whom were referred for reasons other than developmental delay or ASD. Their clinical presentations ranged from asymptomatic macrocephaly with normal development/intellect, to obsessive compulsive disorder, and debilitating neurological disease. To our knowledge, this report constitutes the first detailed description of PTEN-related white matter changes in adult patients and in children with normal development and intelligence. We present a detailed assessment of the neuropsychological phenotype of our patients and discuss the relationship between the wide array of neuropsychiatric features and observed white matter findings in the context of these individuals.

Rapid, collaborative generation and review of COVID-19 pandemic-specific competencies for family medicine residency training.

BACKGROUND: In March 2020, the COVID-19 pandemic disrupted competency-based medical education in Family Medicine programs across Canada. Faculty and residents identified a need for clear, relevant, and specific competencies to frame teaching, learning, supervision and feedback during the pandemic. METHODS: A rapid, iterative, educational quality improvement process was launched. Phase 1 involved experienced educators defining gaps in our program's existing competency-database, reviewing emerging public health and regulatory guidelines, and drafting competencies. Phase 2 involved translation, member-checking, and anonymous feedback and editing of draft competencies by residents and other educational leaders. Phase 3 involved wider dissemination, collaborative editing and feedback from residents and faculty throughout the department. RESULTS: A total of 44 physicians including residents and faculty from multiple contexts provided detailed feedback, review, and editing of an ultimate list of 33 competencies organized by CanMEDS-FM roles. Broad agreement was obtained that the competencies form reasonable learning outcomes during the COVID-19 pandemic. CONCLUSIONS: These competencies represent learning objectives reflecting the initial educational mindsets of a wide range of teachers and learners experiencing a global pandemic. The project illustrates a novel collaboration across educational portfolios as a rapid educational response to a public health crisis.

CONTEXTE: En mars 2020, la pandémie de la COVID-19 a perturbé la formation médicale basée sur les compétences des programmes de médecine familiale partout au Canada. Le corps professoral et les résidents ont identifié la nécessité d'avoir des compétences claires, pertinentes et précises pour encadrer l'enseignement, l'apprentissage, la supervision et la rétroaction durant la pandémie. MÉTHODES: Un processus rapide et itératif d'amélioration de la qualité de l'éducation a été lancé. Au cours de la Phase 1, des éducateurs d'expérience ont identifié les lacunes en lien avec la base de données actuelle des compétences du programme, et fait une ébauche de compétences à partir d'une revue des lignes directrices émergentes en santé publique et des organismes de régulation. La Phase 2 a consisté en la traduction, la révision par les membres ainsi que la rétroaction anonyme et la révision des compétences provisoires par les résidents et autres leaders en éducation. Durant la Phase 3, on a procédé à la diffusion à plus large échelle, à la révision en collaboration et au recueil des commentaires des résidents et du corps professoral dans tout le département. RÉSULTATS: En tout, quarante-quatre (44) médecins comportant des résidents et des membres du corps professoral de multiples contextes, ont fourni une rétroaction détaillée et procédé à l'examen et à la révision d'une liste finale de 33 compétences classées par rôles CanMEDS. Une très vaste majorité a convenu que les compétences produisent des résultats d'apprentissage raisonnables durant la pandémie de la COVID-19. CONCLUSIONS: Ces compétences représentent des objectifs d'apprentissage qui reflètent la perspective éducative initiale d'une vaste gamme de d'enseignants et d'apprenants aux prises avec une pandémie mondiale. Le projet représente une nouvelle collaboration entre les programmes d'études comme une réponse éducative rapide à une crise de santé publique.

Mining reflective continuing medical education data for family physician learning needs.

A mixed methods research (sequential explanatory design) studied the potential of mining the data from the consumers of continuing medical education (CME) programs, for the developers of CME programs. The quantitative data generated by family physicians, through applying the information assessment method to CME content, was presented to key informants from the CME planning community through a qualitative description study.The data were revealed to have many potential applications including supporting the creation of CME content, CME program planning and personal learning portfolios.