RESUMEN
In a recent publication, we applied a novel model to address phenotypic heterogeneity in genetic research on alcohol misuse by stratifying individuals based on their patterns of alcohol use behaviours and comorbid psychopathology. In this Commentary, we provide further descriptions of the subtypes of alcohol misuse that emerged from the empirical mixture modelling approach and present new results comparing these groups on sociodemographic characteristics and additional alcohol use outcomes. We take a broad perspective to discuss how these results fit with existing typologies of alcohol misuse and how the results inform future genetic research. Our findings add further evidence that conceptualisations of a binary distinction between 'internalising' (relief-seeking) versus 'externalising' (reward-seeking) subtypes does not fully capture the complexity of alcohol misuse. However, accounting for individual differences in these dimensions is a promising means to reduce heterogeneity and thereby improve power for gene discovery and, eventually, personalised medicine applications. We argue that more detailed, person-specific assessment of alcohol misuse measures, particularly with attention to longitudinal trajectories, is needed to further advance this important line of research.
Asunto(s)
Alcoholismo , Humanos , Alcoholismo/genética , Alcoholismo/epidemiología , Alcoholismo/psicología , Consumo de Bebidas Alcohólicas/genética , Consumo de Bebidas Alcohólicas/epidemiologíaRESUMEN
Children can be reliably diagnosed with autism as early as 3 years of age, and early interventions are initiated. There is often a significant gap between the age of onset of symptoms (2-3 years) and diagnosis (8-10 years) in Africa. We conducted a study to validate the Social Communication Questionnaire (SCQ) as a screening instrument in a rural setting in Kenya. The study was conducted along the Kenyan Coast. Study participants included 172 children with a neurodevelopmental disorder (NDD) diagnosis (84 of which were autism) and 112 controls. Internal consistency was evaluated through the use of Cronbach's alpha, confirmatory factor analysis (CFA) with maximum likelihood procedure to assess the conceptual model for the SCQ. Additionally, the sensitivity and specificity of cut-off scores using ROC analysis and item difficulties and discrimination quality using an IRT framework were also assessed. Factor analysis revealed an adequate fitting model for the three-factor DSM-IV-TR (root mean squared error of approximation (RMSEA) = 0.050; Comparative Fit Index (CFI) = 0.974; Tucker-Lewis Index (TLI) = 0.973) and two-factor DSM-5 factor structure (RMSEA = 0.050; CFI = 0.972; TLI = 0.974). The reliability coefficient alphas for the whole group for all items (Cronbach's α = 0.90) and all three domains (Cronbach's α = 0.68-0.84) were acceptable to excellent. The recommended cut-off score of 15 yielded 72% sensitivity and 100% specificity in the ASD group compared to the typically developing group. We provide early evidence of the adequate factor structure and good internal consistency of the SCQ. We also note that the recommended cut-off yielded sufficient predictive validity.