Purpose: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292).
Methods: We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing.
Introduction: We conducted a mixed methods study from June 2014 to March 2015 to assess the perspectives of stakeholders in networks that adopt a population approach for chronic disease prevention (CDP). The purpose of the study was to identify important and feasible outcome measures for monitoring network performance.
Methods: Participants from CDP networks in Canada completed an online concept mapping exercise, which was followed by interviews with network stakeholders to further understand the findings.