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Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
Tasks are a key resource in the process of teaching and learning mathematics, which is why task design continues to be one of the main research issues in mathematics education. Different settings can influence the principles underlying the formulation of tasks, and so does the outdoor context. Specifically, a math trail can be a privileged context, known to promote positive attitudes and additional engagement for the learning of mathematics, confronting students with a sequence of real-life tasks, related to a particular mathematical theme. Recently, mobile devices and apps, i.e., MathCityMap, have been recognized as an important resource to facilitate the extension of the classroom to the outdoors. The study reported in this paper intends to identify the principles of design for mobile theme-based math trails (TBT) that result in rich learning experiences in early algebraic thinking. A designed-based research is used, through a qualitative approach, to develop and refine design principles for TBT about Sequences and Patterns. The iterative approach is described by cycles with the intervention of the researchers, pre-service and in-service teachers and students of the targeted school levels. The results are discussed taking into account previous research and data collected along the cycles, conducing to the development of general design principles for TBT tasks.