Background
Deletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes.
Method
To clarify the phenotype of 16p11.2 deletion, we examined psychiatric and developmental presentation of predominantly clinically referred individuals, with a particular emphasis on broader autism phenotype characteristics in individuals with recurrent ~600 kb chromosome 16p11.2 deletions. 85 Individuals with the 16p11.2 deletion, and 153 familial controls, were evaluated for symptom presentation and clinical diagnosis using an extensive standardized assessment battery across 3 clinical sites.
Results
Individuals with the 16p11.2 deletion presented with a high frequency of psychiatric and developmental disorders (>90%). The most commonly diagnosed conditions were developmental coordination disorder, phonological processing disorder, expressive and receptive language disorders (71% of individuals over 3 years of age with a speech and language related disorder), and autism spectrum disorder (ASD). Individuals with the 16p11.2 deletion not meeting diagnostic criteria for ASD had significantly higher prevalence of autism-related characteristics compared to the familial non-carrier control group. Individuals with the 16p11.2 deletion had a range of intellectual ability, but IQ scores were 26 points lower than non-carrier family members on average.
Conclusion
Clinically referred individuals with the 16p11.2 deletion have high rates of psychiatric and developmental disorders and provide a genetically well-defined group to study the emergence of developmental difficulties, particularly those associated with the broader autism phenotype.
Comic books employ a complex interplay of text and images that gives them the potential to effectively convey concepts and motivate student engagement. This makes comics an appealing option for educators trying to improve science literacy about pressing societal issues involving science and technology. Here, we report results from the first systematic assessment of how a science comic book can affect student learning and attitudes about biology. We used pre- and postinstruction instruments to measure students’ attitudes about biology, attitudes about comics, and content knowledge about evolution before and after using the science comic book Optical Allusions in their classes. On the preinstruction instrument, nonmajors reported the lowest scores on the content test and attitude surveys relative to the other groups. However, on the postinstruction instrument, nonmajors’ content scores and attitudes showed a statistically significant improvement after using the comic book, particularly among those with lower content knowledge at the start of the semester. The improvement in attitudes about biology was correlated to attitudes about comics, suggesting that the comic may have played a role in engaging and shaping student attitudes in a positive way.
Maize seedlings emit sesquiterpenes during the day in response to insect herbivory. Parasitoids and predators use induced volatile blends to find their hosts or prey. To investigate the diurnal regulation of biosynthesis and emission of induced sesquiterpenes, we applied linolenoyl-L-glutamine (LG) to maize seedlings in the morning or evening using a cut-stem assay and tracked farnesene emission, in planta accumulation, as well as transcript levels of farnesyl pyrophosphate synthase 3 (ZmFPPS3) and terpene synthase10 (ZmTPS10) throughout the following day. Independent of time of day of LG treatment, maximum transcript levels of ZmFPPS3 and ZmTPS10 occurred within 3-4 h after elicitor application. The similarity between the patterns of farnesene emission and in planta accumulation in light-exposed seedlings in both time courses suggested unobstructed emission in the light. After evening induction, farnesene biosynthesis increased dramatically during early morning hours. Contrary to light-exposed seedlings dark-kept seedlings retained the majority of the synthesized farnesene. Two treatments to reduce stomatal aperture, dark exposure at midday, and abscisic acid treatment before daybreak, resulted in significantly reduced amounts of emitted and significantly increased amounts of in planta accumulating farnesene. Our results suggest that stomata not only play an important role in gas exchange for primary metabolism but also for indirect plant defences.
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