Revitalize your Research Instruction!: Applying the ENGAGING Constructivist Framework in the Library Instruction Classroom

In a workshop filled with collaboration, reflection, activity, and discussion the presenters will explore Dr. Paul Vermette’s (2009) ENGAGING framework to make meaningful classroom experiences. Whether you teach face-to-face, online, or develop online tutorials, this workshop will help you hone your teaching skills and prepare you for your instructional needs. By exploring evidence-based practices that maximize student learning, participants will leave the session with teaching strategies to incorporate into library instruction and a framework for designing future sessions. Help your students have more fun, learn more and maybe even change their perceptions about what information literacy instruction can accomplish. Outline of 75 minute workshop: 3 minutes: Introduction of presenters and warm-up activity finding commonalities of pairs in the room 7 minutes (Vermette): Gronk activity in pairs (aka: A teaches B draws) 15 minutes (Moore): Debrief Gronk with the essential question, “Why did the learning happen during this activity” 6 minutes (Langridge): Enticing Effort – Building relationships using sentence starters - I hope the instructor… - I need to learn this because… - I will work hard if… 8 minutes (Moore): Negotiating Meaning – modeling 3 more thinking activities (thinking that causes learning) - Graphic Organizers – Use a T chart to compare… - True/True test (the participants are provided a true statement about information literacy instruction and they hypothesize why it is true) - Short article/paragraph – participants create questions they have about the passage 3 minutes (Vermette): Group Wisely – Why do we group in classes? How were you grouped for this session and how did the grouping have an impact on the conversation? 8 minutes (Moore): Active Learning – Participants make a list of activities we have done in the session to promote or entice learning (session facilitators will then share their list) 2 minutes (Langridge): Graphic Organizers – Linking back to the negotiating meaning activity and showing graphic organizer options in handout packet 2 minutes (Moore): Intelligence Interventions – Share 100 products that students can produce (1 page handout for participants to take with them) 5 minutes (Langridge): Note Making – Participants choose one phrase they have written down during the session and answer the question, “Why did you write it down” (promotes metacognition and reflection) 5 minutes (Moore): Grading Wisely – How can we incentivize students especially if the instructor of the course is not allocating points to the activities being done in the library. 10 minutes (Vermette): Closing and questions – Participants take a team ENGAGING quiz where they work to apply the framework to their own instructional need

Pitfalls in genetic testing: the story of missed SCN1A mutations

BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. METHODS: We sent out a survey to 16 genetic centers performing SCN1A testing. RESULTS: We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. CONCLUSION: We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

Background: Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities that affect these patients and available literature is limited to small case series. This study aimed to use a large international sample to examine the prevalence in this disorder of comorbidities of epilepsy, gastrointestinal problems including feeding difficulties, sleep and respiratory problems and scoliosis and their relationships with age and genotype. Prevalence and onset were also compared with those occurring in Rett syndrome. Methods: Data for the CDKL5 disorder and Rett syndrome were sourced from the International CDKL5 Disorder Database (ICDD), InterRett and the Australian Rett syndrome Database (ARSD). Logistic regression (multivariate and univariate) was used to analyse the relationships between age group, mutation type and the prevalence of various comorbidities. Binary longitudinal data from the ARSD and the equivalent cross-sectional data from ICDD were examined using generalized linear models with generalized estimating equations. The Kaplan-Meier method was used to estimate the failure function for the two disorders and the log-rank test was used to compare the two functions. Results: The likelihood of experiencing epilepsy, GI problems, respiratory problems, and scoliosis in the CDKL5 disorder increased with age and males were more vulnerable to respiratory and sleep problems than females. We did not identify any statistically significant relationships between mutation group and prevalence of comorbidities. Epilepsy, GI problems and sleep abnormalities were more common in the CDKL5 disorder than in Rett syndrome whilst scoliosis and respiratory problems were less prevalent. Conclusion: This study captured a much clearer picture of the CDKL5 disorder than previously possible using the largest sample available to date. There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome, reinforcing the concept that CDKL5 is an independent disorder with its own distinctive characteristics

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox–Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found to account for over 15% of patients with IS or LGS. The contribution of autosomal recessive genetic variation, however, is less well understood. We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient–parent trios that were generally prescreened for rare metabolic disorders. In the current sample, our rare variant transmission disequilibrium test did not identify individual genes with significantly distorted transmission over expectation after correcting for the multiple tests. While the rare variant transmission disequilibrium test did not find evidence of a role for individual autosomal recessive genes, our current sample is insufficiently powered to assess the overall role of autosomal recessive genotypes in an outbred epileptic encephalopathy population

Pitfalls in genetic testing: the story of missed SCN1A mutations

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