The current study aimed to fill the gap in research on factors predictive of word reading in French-speaking children with developmental language disorder (DLD) by finding out whether the same predictors of written word recognition evidenced in typically developing children would be retrieved in children with DLD or if some predictors could be specific to children with DLD, especially in the phonological domain. In total, 38 children with DLD and 44 control children were followed from 6 to 8 years in a longitudinal design including two time points: (1) just before explicit reading instruction, where potential predictors of reading were assessed (oral language skills and reading-related skills), and (2) after 2 years of learning to read, where isolated word reading and text reading were assessed in addition to the assessment of oral language skills and reading-related skills. The study mainly showed that the predictors of reading identified in typically developing children are retrieved in children with DLD except for phonemic awareness; the latter result was probably explained by a floor effect.
View Article and Find Full Text PDFCentral nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available.
View Article and Find Full Text PDFIt is well established that extreme prematurity can be associated with cerebellar lesions potentially affecting the neurologic prognosis. One of the commonly observed lesions in these cases is pontocerebellar hypoplasia resulting from prematurity, which can pose challenges in distinguishing it from genetically caused pontocerebellar hypoplasia. This confusion leads to unacceptable and prolonged diagnostic ambiguity for families as well as difficulties in genetic counseling.
View Article and Find Full Text PDFA bipyridine-strapped porphyrin was prepared using a remote template effect of alkali or transition metal cations in the bipyridine subunit to enhance the yield 10-fold. The flexibility of the bipyridine-strap also allowed the synthesis of a doubly strapped porphyrin.
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