Improving Fidelity of Translation of the Stepping On Falls Prevention Program through Root Cause Analysis

Background: Fidelity monitoring is essential with implementation of complex health interventions, but there is little description of how to use results of fidelity monitoring to improve the draft program package prior to widespread dissemination. Root cause analysis (RCA) provides a systematic approach to identifying underlying causes and devising solutions to prevent errors in complex processes. Its use has not been described in implementation science.Methods: Stepping On is a small group, community-based intervention that has been shown to reduce falls by 31%. To prepare Stepping On for widespread U.S. dissemination, we conducted a pilot of the draft program package, monitoring the seven Stepping On sessions for fidelity of program delivery, and assessing participant receipt and enactment through participant interviews after the workshop. Lapses to fidelity in program delivery, receipt, and enactment were identified. We performed a root cause analysis to identify underlying causes of, and solutions to, such lapses, with the goal of preventing fidelity lapses with widespread dissemination.Results: Lapses to fidelity in program delivery were in the domains of group leader’s role, use of adult learning principles, and introducing and upgrading the exercises. Lapses in fidelity of participant receipt and enactment included lack of knowledge about balance exercises and reduced adherence to frequency of exercise practice and advancement of exercise. Root causes related to leader training and background, site characteristics and capacity, and participant frailty and expectations prior to starting the program. The RCA resulted in changes to the program manual, the training program and training manual for new leaders, and to the methods for and criteria for participant and leader recruitment. A Site Implementation Guide was created to provide information to sites interested in the program.Conclusions: Disseminating complex interventions can be done more smoothly by first using a systematic quality improvement technique, such as the RCA, to identify how lapses in fidelity occur during the earliest stages of implementation. This technique can also help bring about solutions to these lapses of fidelity prior to widespread dissemination across multiple domains lapses

Functional impact of global rare copy number variation in autism spectrum disorders.

International audienceThe autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways