Recension de trois programmes d'intervention pour les familles ayant des enfants (6-12 ans) en trouble oppositionnel du comportement.

Cet essai vise à faire une analyse critique des programmes d'intervention les plus prometteurs auprès des enfants présentant un trouble oppositionnel (TO) et à identifier les interventions qui seraient les plus appropriées à implanter dans le cadre d'un Centre de Santé et de Services Sociaux (CSSS). En guise d'introduction nous présentons la définition du TO et des données concernant la prévalence de ce trouble et nous abordons la question des autres troubles associés. Le deuxième chapitre de cet essai est consacré à la présentation d'une recension d'écrits concernant les facteurs personnels, familiaux et sociaux associés au TO chez les enfants. Le troisième est consacré à la présentation de trois programmes d'intervention familiaux. Le dernier chapitre consiste à une proposition d'intervention dans le contexte actuel des CSSS au Québec

Morphosyntactic development and severe parental neglect in 4-year-old French-speaking children : ELLAN Study

Language is the most frequently compromised area of development in English-speaking neglected children, particularly the morphosyntactic component of language. This is very worrisome given its central role in academic success and social participation. No previous study has examined the morphosyntactic skills of French-speaking neglected children, despite the morphological richness of French. This study aimed to fill this gap. Forty-four neglected (mean age ¼ 48.32 months, SD ¼ 0.45) and 92 non-neglected (mean age ¼ 48.07 months, SD ¼ 0.24) French-speaking children participated. Measures of morphosyntactic skills were derived from a sample of spontaneous language collected during standardized semistructured play and analyzed using Systematic Analysis of Language Transcripts software (2012) . Four morphosyntactic indicators were compared using analyses of variance and Kolmogorov–Smirnov tests: the mean length of utterances (MLU), verbal inflections, word-level errors, and omission errors. The results indicate that 25.6% of the neglected children presented clinically significant morphosyntactic difficulties, as evidenced by a significantly shorter MLU (M ¼ 5.60, SD ¼ 1.13; M ¼ 6.90, SD ¼ 1.30), fewer verbal inflections, and more frequent word omission errors compared to their non-neglected peers. The results confirm that French-speaking neglected children present many morphosyntactic difficulties. This study argues for sustained speech–language services for these children

Perceived prosociality by early childhood educators and pragmatic skills of 4-year-olds: a question of gender?

Objectif et méthode. L’objectif de cet article consiste à étudier l’influence de la pragmatique du langage (usage du langage en contexte social) des filles et des garçons âgés de 4 ans (n = 120) sur la prosocialité telle qu’elle est perçue par leur éducatrice (n = 22) en centre de la petite enfance. Résultats. À l’instar de moult travaux, les résultats font ressortir une différence significative en faveur des filles plutôt que des garçons, témoignant d’une perception différentielle de genre en prosocialité perçue. Puis, ils démontrent que l’initiative conversationnelle des garçons influe sur l’évaluation de la prosocialité perçue par leur éducatrice en CPE, alors que chez les filles, elle ne permet pas d’en rendre compte. En revanche, la pragmatique manifestée des filles (intentions de communication) est reliée à leur prosocialité perçue, tandis qu’elle ne l’est pas chez les garçons. Conclusion. Ces résultats tendent à témoigner d’une influence différenciée de la pragmatique du langage selon le sexe des enfants de 4 ans dans la prosocialité perçue par leur éducatrice en CPE.Objective and method. The aim of this article is to study the influence of pragmatic skills (language use in social context) of girls and boys aged 4 (n = 120) on prosociality as perceived by their early childhood educators (n = 22). Results. As with many works, the results show a significant difference in favor of girls rather than boys, indicating a differential perception of gender in perceived prosociality. Then, they show that the conversational initiative of the boys influences the evaluation of the prosociality as perceived by their early childhood educators, whereas for the girls, it does not make it possible to account for it. On the other hand, girls' expressed pragmatics (communication intentions) are related to their perceived prosociality, whereas it is not the case for boys. Conclusion. These results tend to show a differentiated influence of the pragmatic skills according to the sex of 4-year-olds in the perceived prosociality by their early childhood educators

Diagnostic accuracy of ultrasonography, MRI and MR arthrography in the characterisation of rotator cuff disorders: A systematic review and meta-analysis

Background Different diagnostic imaging modalities, such as ultrasonography (US), MRI, MR arthrography (MRA) are commonly used for the characterisation of rotator cuff (RC) disorders. Since the most recent systematic reviews on medical imaging, multiple diagnostic studies have been published, most using more advanced technological characteristics. The first objective was to perform a meta-analysis on the diagnostic accuracy of medical imaging for characterisation of RC disorders. Since US is used at the point of care in environments such as sports medicine, a secondary analysis assessed accuracy by radiologists and nonradiologists. Methods A systematic search in three databases was conducted. Two raters performed data extraction and evaluation of risk of bias independently, and agreement was achieved by consensus. Hierarchical summary receiver-operating characteristic package was used to calculate pooled estimates of included diagnostic studies. Results Diagnostic accuracy of US, MRI and MRA in the characterisation of full-thickness RC tears was high with overall estimates of sensitivity and specificity over 0.90. As for partial RC tears and tendinopathy, overall estimates of specificity were also high (\u3e0.90), while sensitivity was lower (0.67â 0.83). Diagnostic accuracy of US was similar whether a trained radiologist, sonographer or orthopaedist performed it. Conclusions Our results show the diagnostic accuracy of US, MRI and MRA in the characterisation of fullthickness RC tears. Since full thickness tear constitutes a key consideration for surgical repair, this is an important characteristic when selecting an imaging modality for RC disorder. When considering accuracy, cost, and safety, US is the best option

Normative Indicators of Language Development in Québec French at 54, 60, and 66 Months of Age: Results of the ELLAN Study

Cet article vise à présenter des indicateurs normatifs du développement du vocabulaire réceptif et expressif, de la phonologie et de la morphosyntaxe expressives chez des enfants québécois unilingues francophones âgés de 54, 60 et 66 mois. Ces indicateurs sont basés sur les résultats obtenus par 99 enfants recrutés à l’âge de 36 mois (± 1 semaine; M = 36,1 mois; É-T = 0,2) et suivis jusqu’à l’âge de 66 mois. Les données ont été recueillies lors de trois visites à domicile réalisées à six mois d’intervalle, à l’aide d’outils fréquemment utilisés par les orthophonistes dans leur pratique clinique et valides sur le plan psychométrique. Une technique statistique de rééchantillonnage utilisant l’intervalle de confiance à 95 % du 10e rang centile a permis de déterminer les scores reflétant la présence de difficultés pour chaque mesure de langage chez les enfants et de former trois regroupements de scores pour identifier les enfants en difficulté, ceux se situant dans une zone d’incertitude et ceux ayant un développement typique. Les résultats confirment une progression significative des habiletés langagières mesurées entre l’âge de 54 et 66 mois. Ils suggèrent également que les mesures utilisées sont suffisamment sensibles pour détecter cette évolution chez les enfants, justifiant ainsi leur pertinence clinique. L’interprétation des normes issues des outils originaux est discutée à la lumière des résultats obtenus. Les données de la présente étude contribuent à l’accroissement du corpus de connaissances sur les indicateurs normatifs du développement du langage en français québécois et, en ce sens, constituent des points de repère indispensables pour le travail clinique en orthophonie et la recherche.The objective of this study is to present normative indicators of the development of receptive and expressive vocabulary as well as phonological and morphosyntactic components of expressive language among unilingual francophone Québec children aged 3 to 4 years. These indicators are based on the results obtained by 99 children recruited at precisely 3 years of age (M = 36.1 months, SD = 0.2). The data were collected during three separate visits conducted 6 months apart, using psychometrically valid tools frequently used by speech-language pathologists in their clinical practice. A statistical resampling technique using the 95% confidence interval of the 10th percentile on each language measure led to the categorization of children into three groups, namely children presenting difficulties, those in a zone of uncertainty, and those presenting typical development. The results for each measure confirm a significant increase in children’s language skills between the ages of 3 and 4 years. They suggest that the measures used are sensitive enough to detect changes in language skills of children aged 36, 42, and 48 months, thus confirming their clinical relevance. Interpretations of the norms of the original tools are discussed in relation to the current indicators. The normative data provided in this study add to a body of knowledge which serve as essential benchmarks for clinical work and research

Indicateurs normatifs du développement du langage en français québécois à 36, 42 et 48 mois : résultats du projet ELLAN

L’objectif de cette étude est de présenter des indicateurs normatifs du développement du vocabulaire réceptif et expressif ainsi que des composantes phonologique et morphosyntaxique du langage expressif chez des enfants québécois unilingues francophones âgés de 3 à 4 ans. Ces indicateurs sont basés sur les résultats obtenus par 99 enfants recrutés à l’âge de 3 ans précisément (M = 36,1 mois; É-T = 0,2). Les données ont été collectées lors de trois visites distinctes réalisées à six mois d’intervalle, à l’aide d’outils valides sur le plan psychométrique et fréquemment privilégiés par les orthophonistes dans leur pratique clinique. Une technique statistique de rééchantillonage utilisant l’intervalle de confiance à 95% du 10e rang centile aux différentes mesures obtenues a permis de regrouper les enfants en difficulté, ceux se situant dans une zone d’incertitude et ceux ayant un développement typique. Les résultats à chacune des mesures confirment une progression significative des compétences langagières des enfants entre l’âge de 3 et 4 ans. Ils suggèrent que les mesures utilisées sont suffisamment sensibles pour détecter l’évolution des habiletés langagières des enfants âgés de 36, 42 et 48 mois, confirmant ainsi leur pertinence clinique. L’interprétation des normes des outils originaux est discutée à la lumière des scores obtenus. Les données normatives de la présente étude s’ajoutent à un corpus de connaissances qui constitue des points de repères indispensables pour le travail clinique et la recherche

Saliva-based detection of COVID-19 infection in a real-world setting using reagent-free Raman spectroscopy and machine learning

ABSTRACT: SIGNIFICANCE: The primary method of COVID-19 detection is reverse transcription polymerase chain reaction (RT-PCR) testing. PCR test sensitivity may decrease as more variants of concern arise and reagents may become less specific to the virus. AIM: We aimed to develop a reagent-free way to detect COVID-19 in a real-world setting with minimal constraints on sample acquisition. The machine learning (ML) models involved could be frequently updated to include spectral information about variants without needing to develop new reagents. APPROACH: We present a workflow for collecting, preparing, and imaging dried saliva supernatant droplets using a non-invasive, label-free technique-Raman spectroscopy-to detect changes in the molecular profile of saliva associated with COVID-19 infection. RESULTS: We used an innovative multiple instance learning-based ML approach and droplet segmentation to analyze droplets. Amongst all confounding factors, we discriminated between COVID-positive and COVID-negative individuals yielding receiver operating coefficient curves with an area under curve (AUC) of 0.8 in both males (79% sensitivity and 75% specificity) and females (84% sensitivity and 64% specificity). Taking the sex of the saliva donor into account increased the AUC by 5%. CONCLUSION: These findings may pave the way for new rapid Raman spectroscopic screening tools for COVID-19 and other infectious diseases

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.

International audienceSHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family members prohibits comprehensive segregation analysis. To overcome this limitation, we performed an exome-wide rare variant burden analysis of 363 index cases with familial ALS (FALS). The results revealed an excess of patient variants within TUBA4A, the gene encoding the Tubulin, Alpha 4A protein. Analysis of a further 272 FALS cases and 5,510 internal controls confirmed the overrepresentation as statistically significant and replicable. Functional analyses revealed that TUBA4A mutants destabilize the microtubule network, diminishing its repolymerization capability. These results further emphasize the role of cytoskeletal defects in ALS and demonstrate the power of gene-based rare variant analyses in situations where causal genes cannot be identified through traditional segregation analysis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology