Comparative study of the neuropsychological and neuroimaging evaluations in children with dyslexia

We analyzed retrospectively the neuroimaging exams of children with a confirmed diagnosis of dyslexia and correlated our findings with the evaluation of higher cortical functions. We studied 34 medical files of patients of the Ambulatory of Neuro-difficulties in Learning, FCM/UNICAMR All of them had been sent to the ambulatory with primary or secondary complaints of difficulties at school and were submitted to neuropsychological evaluation and imaging exam (SPECT). From the children evaluated 58.8% had exams presenting dysfunction with 47% presenting hypoperfusion in the temporal lobe. As for the higher cortical functions, the most affected abilities were reading, writing and memory. There was significance between the hypoperfused areas and the variables schooling, reading, writing, memory and mathematic reasoning. The SPECTs showed hypoperfusion in areas involved in the reading and writing processes. Both are equivalent in terms of involved functional areas and are similar in children with or without specific dysfunctions in neuroimaging.642B36937

Variation in mouse pelvic morphology maps to locations enriched in Sox9 Class II and Pitx1 regulatory features

Variation in pelvic morphology has a complex genetic basis and its patterning and specification is governed by conserved developmental pathways. Whether the mechanisms underlying the differentiation and specification of the pelvis also produce the morphological covariation on which natural selection may act, is still an open question in evolutionary developmental biology. We use high‐resolution quantitative trait locus (QTL) mapping in the F34 generation of an advanced intercross experiment (LG,SM‐G34) to characterize the genetic architecture of the mouse pelvis. We test the prediction that genomic features linked to developmental patterning and differentiation of the hind limb and pelvis and the regulation of chondrogenesis are overrepresented in QTL. We find 31 single QTL trait associations at the genome‐ or chromosome‐wise significance level coalescing to 27 pleiotropic loci. We recover further QTL at a more relaxed significance threshold replicating locations found in a previous experiment in an earlier generation of the same population. QTL were more likely than chance to harbor Pitx1 and Sox9 Class II chromatin immunoprecipitation‐seq features active during development of skeletal features. There was weak or no support for the enrichment of seven more categories of developmental features drawn from the literature. Our results suggest that genotypic variation is channeled through a subset of developmental processes involved in the generation of phenotypic variation in the pelvis. This finding indicates that the evolvability of complex traits may be subject to biases not evident from patterns of covariance among morphological features or developmental patterning when either is considered in isolation