Pubmed du 12/04/21
1. Alvarez-Nuñez L, González M, Rudnitzky F, Vásquez-Echeverría A. Psychometric properties of the ASQ-3 in a nationally representative sample of Uruguay. Early human development. 2021; 157: 105367.
BACKGROUND: The Ages & Stages Questionnaires Third Version (ASQ-3) identifies the risk of developmental delay in children aged 2 to 66 months. The ASQ-3 is available in many languages. However, there is little evidence of the psychometric properties of the Spanish version and using nationally-representative samples. AIMS: This study evaluates the reliability and factor solution of the Spanish version of the ASQ-3 (18- to 54-month questionnaires) in a large, representative sample of Uruguayan children. Besides, it explores the association of ASQ-3 scores with sociodemographic characteristics. METHOD: Participants were 4016 main caregivers selected randomly across the country who completed the ASQ-3 for their children. All participants responded to the ASQ-3 and a sociodemographic questionnaire within the context of a government-run survey of child development. RESULTS: Most versions of the ASQ-3 in Spanish have acceptable-to-good psychometric properties, supporting the 5-factor-solution. Personal-Social and, to a lesser extent, Problem-solving scores were the subscales that showed more suboptimal internal consistency coefficients. Scores showed higher ceiling effects than the original US sample but varied across domains, with Gross Motor showing the highest pattern. Sex and socioeconomic status are associated with scores of most age-versions and subscales of the ASQ-3. CONCLUSIONS: In general, results support the reliability and dimensionality of ASQ-3 scores, but psychometric properties varied across age-version and domains. Overall, earlier versions presented less precision, while the Personal-social domain showed reduced reliability in most age-versions.
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2. Matthewman H, Zane E, Grossman R. Comparing Frequency of Listener Responses Between Adolescents with and Without ASD During Conversation. Journal of autism and developmental disorders. 2022; 52(3): 1007-18.
In conversation, the listener plays an active role in conversation success, specifically by providing listener feedback which signals comprehension and interest. Previous work has shown that frequency of feedback positively correlates with conversation success. Because individuals with ASD are known to struggle with various conversational skills, e.g., turn-taking and commenting, this study examines their use of listener feedback by comparing the frequency of feedback produced by 20 adolescents with ASD and 23 neurotypical (NT) adolescents. We coded verbal and nonverbal listener feedback during the time when participants were listening in a semi-structured interview with a research assistant. Results show that ASD participants produced significantly fewer instances of listener feedback than NT adolescents, which likely contributes to difficulties with social interactions.
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3. Somekh J. Model-based pathway enrichment analysis applied to the TGF-beta regulation of autophagy in autism. Journal of biomedical informatics. 2021; 118: 103781.
To differentiate between conditions of health and disease, current pathway enrichment analysis methods detect the differential expression of distinct biological pathways. System-level model-driven approaches, however, are lacking. Here we present a new methodology that uses a dynamic model to suggest a unified subsystem to better differentiate between diseased and healthy conditions. Our methodology includes the following steps: 1) detecting connections between relevant differentially expressed pathways; 2) construction of a unified in silico model, a stochastic Petri net model that links these distinct pathways; 3) model execution to predict subsystem activation; and 4) enrichment analysis of the predicted subsystem. We apply our approach to the TGF-beta regulation of the autophagy system implicated in autism. Our model was constructed manually, based on the literature, to predict, using model simulation, the TGF-beta-to-autophagy active subsystem and downstream gene expression changes associated with TGF-beta, which go beyond the individual findings derived from literature. We evaluated the in silico predicted subsystem and found it to be co-expressed in the normative whole blood human gene expression data. Finally, we show our subsystem’s gene set to be significantly differentially expressed in two independent datasets of blood samples of ASD (autistic spectrum disorders) individuals as opposed to controls. Our study demonstrates that dynamic pathway unification can define a new refined subsystem that can significantly differentiate between disease conditions.
