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Purpose – The purpose of this study was to design an assessment instrument to evaluate students’ attitudes toward sustainable engineering (SE). Factors that impact SE beliefs could then be explored. Design/methodology/approach – Using the definition of sustainability from the Brundtland report and expectancy value theory, students’ sentiment toward SE was evaluated using items to assess SE self-efficacy, SE value and SE affect. The survey was distributed at three diverse universities with 515 responses from students ranging from first year through graduate studies in a variety of engineering majors. The survey instrument was validated using principal components analysis, and internal reliability was established via high Cronbach’s alpha for each construct. Findings – Participation in more experiential, enriching learning experiences correlated to higher SE self-efficacy, value and affect. Extracurricular club involvement correlated with a lower self-efficacy but high SE value. Students who had participated in undergraduate research had a high SE self-efficacy, particularly in the environmental and social sub-scales. The students who participated in internships had high SE self-efficacy but lower SE affect. A greater number of volunteer hours correlated with increased SE affect. Female students possessed higher SE value and affect than male students, but self-efficacy was not significantly different. SE self-efficacy increased with academic rank. Originality/value – This is the first effort to measure engineering students’ attitudes toward SE using the three sub-scales of expectancy value theory and assessing correlations in these attributes with students’ participation in various learning experiences.

The national efforts underway to include engineering in K–12 science education present a variety of new challenges, including how to prepare teachers to teach a new discipline. In this paper, we focus on elementary teachers and how they enter into responsive teaching, in which they closely attend and meaningfully respond to students’ thinking. This pedagogical approach is particularly critical for teaching engineering design in ways that support students in developing original solutions to complex, dynamic problems. Drawing on 3 years of professional development that helped teachers incorporate engineering in literacy contexts, we investigated the knowledge and abilities teachers displayed for responsive teaching and how features of instructional design and classroom dynamics impacted their teaching. Throughout the project, we observed and videotaped professional development workshops and teachers’ classrooms, and interviewed teachers about their classroom experiences. We then conducted a thematic analysis across these data sources, presenting common themes as conjectures for how teachers enter into responsive teaching in engineering. We discuss how these conjectures can inform teacher research and the design of teacher preparation programs in engineering.

Novel Engineering activities are premised on the integration of engineering and literacy: students identify and engineer solutions to problems that arise for fictional characters in stories they read for class. There are advantages to this integration, for both engineering and literacy goals of instruction: the stories provide ''clients'' to support students' engagement in engineering, and understanding clients' needs involves careful interpretation of text. Outcomes are encouraging, but mixed, in part owing to variation in how students frame the task. For instance, although students often pay close attention to the stories, interpreting and anticipating their fictional clients' needs, they sometimes focus more on the teacher and what they think she would like to see. This variation occurs both within and across groups of students, and it motivates studying the dynamics of student framing. Here, we examine a pair of students who share a central objective of designing an optimal solution for their fictional client, and who persist in achieving their objective. We argue that the students' stable framing of the activity involves their engagement in engineering design, and that the abilities they demonstrate in pursuit of a solution are evidence of their productive beginnings in engineering design. AbstractNovel Engineering activities are premised on the integration of engineering and literacy: students identify and engineer solutions to problems that arise for fictional characters in stories they read for class. There are advantages to this integration, for both engineering and literacy goals of instruction: the stories provide ''clients'' to support students' engagement in engineering, and understanding clients' needs involves careful interpretation of text. Outcomes are encouraging, but mixed, in part owing to variation in how students frame the task. For instance, although students often pay close attention to the stories, interpreting and anticipating their fictional clients' needs, they sometimes focus more on the teacher and what they think she would like to see. This variation occurs both within and across groups of students, and it motivates studying the dynamics of student framing. Here, we examine a pair of students who share a central objective of designing an optimal solution for their fictional client, and who persist in achieving their objective. We argue that the students' stable framing of the activity involves their engagement in engineering design, and that the abilities they demonstrate in pursuit of a solution are evidence of their productive beginnings in engineering design.

Limited evidence exists on real-world adherence to nusinersen for the treatment of spinal muscular atrophy (SMA). Data are presented from a multi-site retrospective chart review of 86 adults with SMA initiating nusinersen at nine US centers between January 2017 and February 2019. Seventy-nine (92%) adults remained on nusinersen during the study; 454 (92%) of 493 total nusinersen doses were received on time. Fifty-eight (67%) adults received all nusinersen doses on time. The majority of patients with at least one nonadherent dose resumed nusinersen on time. Most patients followed the dosing schedule across the loading and maintenance dose periods.

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Mitochondrial aconitase is the second enzyme in the tricarboxylic acid (TCA) cycle catalyzing the interconversion of citrate into isocitrate and encoded by the nuclear gene ACO2. A homozygous pathogenic variant in the ACO2 gene was initially described in 2012 resulting in a novel disorder termed “infantile cerebellar retinal degeneration” (ICRD, OMIM#614559). Subsequently, additional studies reported patients with pathogenic ACO2 variants, further expanding the genetic and clinical spectrum of this disorder to include milder and later onset manifestations. Here, we report an international multicenter cohort of 16 patients (of whom 7 are newly diagnosed) with biallelic pathogenic variants in ACO2 gene. Most patients present in early infancy with severe truncal hypotonia, truncal ataxia, variable seizures, evolving microcephaly, and ophthalmological abnormalities of which the most dominant are esotropia and optic atrophy with later development of retinal dystrophy. Most patients remain nonambulatory and do no acquire any language, but a subgroup of patients share a more favorable course. Brain magnetic resonance imaging (MRI) is typically normal within the first months but global atrophy gradually develops affecting predominantly the cerebellum. Ten of our patients were homozygous to the previously reported c.336C>G founder mutation while the other six patients were all compound heterozygotes displaying 10 novel mutations of whom 2 were nonsense predicting a deleterious effect on enzyme function. Structural protein modeling predicted significant impairment in aconitase substrate binding in the additional missense mutations. This study provides the most extensive cohort of patients and further delineates the clinical, radiological, biochemical, and molecular features of ACO2 deficiency.