14Centre référent pour le diagnostic des troubles du langage et des apprentissages, Département de pédiatrie, CHU Nord, Grenoble, France; Background: The relationship between phoneme awareness, rapid automatized naming (RAN), verbal short-term/working memory (ST/WM) and diagnostic category is investigated in control and dyslexic children, and the extent to which this depends on orthographic complexity. Methods: General cognitive, phonological and literacy skills were tested in 1,138 control and 1,114 dyslexic children speaking six different languages spanning a large range of orthographic complexity (Finnish, Hungarian, German, Dutch, French, English). Results: Phoneme deletion and RAN were strong concurrent predictors of developmental dyslexia, while verbal ST/WM and general verbal abilities played a comparatively minor role. In logistic regression models, more participants were classified correctly when orthography was more complex. The impact of phoneme deletion and RAN-digits was stronger in complex than in less complex orthographies. Conclusions: Findings are largely consistent with the literature on predictors of dyslexia and literacy skills, while uniquely demonstrating how orthographic complexity exacerbates some symptoms of dyslexia.

Children’s cognitive abilities and school achievements are deeply affected by parental socioeconomic status (SES). Numerous studies have reported lower cognitive performance in relation to unfavorable environments, but little is known about the effects of SES on the child’s neural structures. Here, we systematically explore the association between SES and brain anatomy through MRI in a group of 23 healthy 10-year-old children with a wide range of parental SES. We confirm behaviorally that language is one of the cognitive domains most affected by SES. Furthermore, we observe widespread modifications in children’s brain structure. A lower SES is associated with smaller volumes of gray matter in bilateral hippocampi, middle temporal gyri, left fusiform and right inferior occipito-temporal gyri, according to both volume- and surface-based morphometry. Moreover, we identify local gyrification effects in anterior frontal regions, supportive of a potential developmental lag in lower SES children. In contrast, we found no significant association between SES and white matter architecture. These findings point to the potential neural mediators of the link between unfavourable environmental conditions and cognitive skills.

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In this study, we concurrently investigated 3 possible causes of dyslexia-a phonological deficit, visual stress, and a reduced visual attention span-in a large population of 164 dyslexic and 118 control French children, aged between 8 and 13 years old. We found that most dyslexic children showed a phonological deficit, either in terms of response accuracy (92.1% of the sample), speed (84.8%), or both (79.3%). Deficits in visual attention span, as measured by partial report ability, affected 28.1% of dyslexic participants, all of which also showed a phonological deficit. Visual stress, as measured by subjective reports of visual discomfort, affected 5.5% of dyslexic participants, not more than controls (8.5%). Although phonological variables explained a large amount of variance in literacy skills, visual variables did not explain any additional variance. Finally, children with comorbid phonological and visual deficits did not show more severe reading disability than children with a pure phonological deficit. These results (a) confirm the importance of phonological deficits in dyslexia; (b) suggest that visual attention span may play a role, but a minor one, at least in this population; (c) do not support any involvement of visual stress in dyslexia. Among the factors that may explain some differences with previously published studies, the present sample is characterized by very stringent inclusion criteria, in terms of the severity of reading disability and in terms of exclusion of comorbidities. This may exacerbate the role of phonological deficits to the detriment of other factors playing a role in reading acquisition. (PsycINFO Database Record

Familial hemiplegic migraine (HM) is an autosomal dominant migraine with aura. In 20% of HM families, HM is associated with a mild permanent cerebellar ataxia (PCA). The CACNA1A gene encoding the alpha1A subunit of P/Q-type voltage-gated calcium channels is involved in 50% of unselected HM families and in all families with HM/PCA. Four CACNA1A missense mutations have been identified in HM: two in pure HM and two in HM/PCA. Different CACNA1A mutations have been identified in other autosomal dominant conditions: mutations leading to a truncated protein in episodic ataxia type 2 (EA2), small expansions of a CAG trinucleotide in spinocerebellar ataxia type 6 and also in three families with EA2 features, and, finally, a missense mutation in a single family suffering from episodic ataxia and severe progressive PCA. We screened 16 families and 3 nonfamilial case patients affected by HM/PCA for specific CACNA1A mutations and found nine families and one nonfamilial case with the same T666M mutation, one new mutation (D715E) in one family, and no CAG repeat expansion. Both T666M and D715E substitutions were absent in 12 probands belonging to pure HM families whose disease appears to be linked to CACNA1A. Finally, haplotyping with neighboring markers suggested that T666M arose through recurrent mutational events. These data could indicate that the PCA observed in 20% of HM families results from specific pathophysiologic mechanisms.

Molecular study and neuropsychological analysis were performed concurrently on 49 patients with Duchenne muscular dystrophy (DMD) in order to find a molecular explanation for the cognitive impairment observed in most DMD patients. Complete analysis of the dystrophin gene was performed to define the localization of deletions and duplications in relation to the different DMD promoters. Qualitative analysis of the Dp71 transcript and testing for the specific first exon of Dp140 were also carried out. Neuropsychological analysis assessed verbal and visuospatial intelligence, verbal memory, and reading skills. Comparison of molecular and psychometric findings demonstrated that deletions and duplications that were localized in the distal part of the gene seemed to be preferentially associated with cognitive impairment. Two altered Dp71 transcripts and two deleted Dp140 DNA sequences were found in four patients with severe cerebral dysfunction. These findings suggest that some sequences located in the distal part of the gene and, in particular, some DMD isoforms expressed in the brain may be related to the cognitive impairment associated with DMD.