Evolution des compétences en lecture, compréhension et orthographe en environnement socioéconomique défavorisé et impact des facteurs cognitifs et comportementaux sur le devenir à deux ans

BACKGROUND: The prevalence of poor reading skills is particularly high among children from low socioeconomic backgrounds, but no longitudinal studies have been conducted so far in France to determine whether poor reading in a socioeconomically challenged population is persistent and warrants preventive action. DESIGN: One hundred and fifty-four children were divided into three groups according to their reading skills: poor, intermediate and typical readers. They were followed over a period of 2 years. Reading levels, spelling and comprehension were assessed by standardized measurement scales in order to determine reading outcome and predictive variables. RESULTS: The reading skills in each group progressed at similar rates, but the differences between the three groups remained relatively constant over the 2 years. The gap between good and poor readers actually increased for the poorest readers. Spelling scores followed a similar pattern and remained weak. Comprehension scores followed a different pattern. Most of the initially poor readers with low comprehension scores almost caught up and reached the level of the typical readers. The best predictive variables of reading and spelling outcome were phonological awareness, rapid naming and attention deficit. The strongest predictive variables for comprehension were IQ, lexical level and attention. CONCLUSIONS: Our results confirm the relative stability of reading measurement across time in poor readers from low socioeconomic backgrounds. Their behavior are similar to the classic dyslexic population. The predictive variables are different depending on whether reading or spelling or comprehension is considered. These results provide a clear agenda for preventive literacy action in children with low socioeconomic levels (SES): phonological decoding and oral language skills in early grades, and screening and treatment of attention disorders

Troubles d'acquisition de la lecture en cours élémentaire : facteurs cognitifs, sociaux et comportementaux dans un échantillon de 1'602 enfants

Reading impairment is the major learning disability in children. While research on illiteracy has mainly been conducted from a sociological perspective, research on dyslexia has typically been studied from a cognitive-linguistic perspective. Studies that jointly investigate sociological, behavioral and cognitive factors in predicting reading outcome are rare and limited to English-speaking populations. The goal of the present study was to screen second grade children with reading impairment in French urban elementary schools and to pin down the factors that explain the various facets of reading failure and success

Gait stability in ambulant children with cerebral palsy during dual tasks

Aim: The aim of this cross-sectional study was to measure the effect of dual tasks on gait stability in ambulant children with cerebral palsy (CP) compared to typically developing (TD) children. Methods: The children of the CP (n = 20) and TD groups (n = 20) walked first without a dual task, then while counting forward and finally while alternatively naming fruits and animals (DTf/a). They then completed the same cognitive exercises while sitting comfortably. We calculated the distance between the foot placement estimator (FPE) and the real foot placement in the anterior direction (DFPEAP) and in the mediolateral direction (DFPEML) as a measure of gait stability, in a gait laboratory using an optoelectronic system. Cognitive scores were computed. Comparisons within and between groups were analysed with linear mixed models. Results: The dual task had a significant effect on the CP group in DFPEAP and DFPEML. The CP group was more affected than the TD group during dual task in the DFPEML. Children in both groups showed significant changes in gait stability during dual tasks. Interpretation: The impact of dual task on gait stability is possibly due to the sharing of attention between gait and the cognitive task. All children favoured a 'posture second' strategy during the dual task of alternatively naming animals and fruits. Children with CP increased their mediolateral stability during dual task.</p

From congenial paralysis to post-early brain injury developmental condition: Where does cerebral palsy actually stand?

Cerebral palsy (CP), an umbrella term for a developmental motor disorder caused by early brain injury (EBI)/interference, remains debated. In this essay, we present a narrative, beginning with the original anatomical-clinical description of the so-called paralysie congéniale (congenial paralysis) by the French psychiatrist Jean-Baptiste Cazauvieilh. We then discuss how the concept has evolved over the last 2 centuries. We aim to illustrate these ideas with the biopsychosocial model of health, especially in light of the current neuroscientific and sociological knowledge of human development. We endeavour to integrate 3 connected but distinct entities: (1) the EBI as a seminal turning point of the individual's story; (2) the clinical findings we call CP, when motor impairment and activity limitation related to post-EBI (or other early non-progressive brain interference) appears, and; (3) a post-EBI developmental condition that encompasses the overall consequences of an EBI. This framework should guide individual, familial and collective care discussions and research strategies beyond the scope of CP

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans. Through whole-exome sequencing in subjects with Joubert syndrome, we identified four children from two unrelated families carrying homozygous missense variants in SUFU. The children presented congenital ataxia and cerebellar vermis hypoplasia with elongated superior cerebellar peduncles (mild "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal bridge, frontal bossing), and postaxial polydactyly. Two siblings also showed polymicrogyria. Molecular dynamics simulation predicted random movements of the mutated residues, with loss of the native enveloping movement of the binding site around its ligand GLI3. Functional studies on cellular models and fibroblasts showed that both variants significantly reduced SUFU stability and its capacity to bind GLI3 and promote its cleavage into the repressor form GLI3R. In turn, this impaired SUFU-mediated repression of the SHH pathway, as shown by altered expression levels of several target genes. We demonstrate that germline hypomorphic variants of SUFU cause deregulation of SHH signaling, resulting in recessive developmental defects of the CNS and limbs which share features with both SHH-related disorders and ciliopathies

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders occurring among all ethnic and socioeconomic groups. Pathogenic variants in the neurite extension and migration factor (NEXMIF) gene (formerly named KIAA2022) on the X chromosome are responsible for ID, autistic behavior, epilepsy, or dysmorphic features in males. Most affected females described had a milder phenotype or were asymptomatic obligate carriers. We report here for the first time mother-to-son transmission of a novel NEXMIF truncating variant without X-inactivation skewing in the blood. Truncating gene variant leads to symptomatic mother to severely affected son transmission. Our findings emphasize that NEXMIF sequencing should be strongly considered in patients with unexplained autism spectrum disorder, ID, and epilepsy, irrespective of gender. Such testing could increase our knowledge of the pathogenicity of NEXMIF variants and improve genetic counseling

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous ?H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the ?-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-? primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.<br/