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Copy number variants (CNVs) play a significant role in disease pathogenesis in a small subset of individuals with schizophrenia (~2.5%). Chromosomal microarray testing is a first-tier genetic test for many neurodevelopmental disorders. Similar testing could be useful in schizophrenia.
To determine whether clinically identifiable phenotypic features could be used to successfully model schizophrenia-associated (SCZ-associated) CNV carrier status in a large schizophrenia cohort.
Logistic regression and receiver operating characteristic (ROC) curves tested the accuracy of readily identifiable phenotypic features in modelling SCZ-associated CNV status in a discovery data-set of 1215 individuals with psychosis. A replication analysis was undertaken in a second psychosis data-set (n = 479).
In the discovery cohort, specific learning disorder (OR = 8.12; 95% CI 1.16–34.88, P = 0.012), developmental delay (OR = 5.19; 95% CI 1.58–14.76, P = 0.003) and comorbid neurodevelopmental disorder (OR = 5.87; 95% CI 1.28–19.69, P = 0.009) were significant independent variables in modelling positive carrier status for a SCZ-associated CNV, with an area under the ROC (AUROC) of 74.2% (95% CI 61.9–86.4%). A model constructed from the discovery cohort including developmental delay and comorbid neurodevelopmental disorder variables resulted in an AUROC of 83% (95% CI 52.0–100.0%) for the replication cohort.
These findings suggest that careful clinical history taking to document specific neurodevelopmental features may be informative in screening for individuals with schizophrenia who are at higher risk of carrying known SCZ-associated CNVs. Identification of genomic disorders in these individuals is likely to have clinical benefits similar to those demonstrated for other neurodevelopmental disorders.
To describe the caffeine and sugar content of all energy drinks available on the island of Ireland.
Two retail outlets were selected from each of: multinational, convenience and discount stores in Northern Ireland and the Republic of Ireland, and all available single-serve energy drinks were purchased. The cross-sectional survey was conducted in February 2015 and brand name, price, volume, caffeine and sugar content were recorded for each product. Descriptive analysis was performed.
Seventy-eight products were identified on the island of Ireland (regular, n 59; diet/sugar-free/light, n 19). Caffeine and sugar content was in the range of 14–35 mg and 2·9–15·6 g per 100 ml, respectively. Mean caffeine content of 102·2 mg per serving represents 25·6 % of the maximum intake advised for adults by the European Food Safety Authority. Per serving, mean sugar content of regular energy drinks was 37 g. This exceeds WHO recommendations for maximum daily sugar intake of <5 % of total energy intake (25 g for adults consuming 8368 kJ (2000 kcal) diet). If displaying front-of-pack labelling, fifty-seven of the fifty-nine regular energy drinks would receive a Food Standards Agency ‘red’ colour-coded label for sugar.
Energy drinks are freely available on the island of Ireland and all products surveyed can be defined as highly caffeinated products. This has potential health issues particularly for children and adolescents where safe limits of caffeine have not been determined. Energy drinks surveyed also contained high levels of sugar and could potentially contribute to weight gain and adverse dental health effects.
In response to The New Nutrition Science Project's Giessen Declaration, we provide here a case for a more fully described and integrated ‘social’ dimension within the nutrition sciences.
This paper explores what we mean when we argue for socially engaged nutrition sciences (SENS), and describes the disciplinary fields, epistemologies and methodologies that contribute to SENS’ potential rich diversity and value. Additionally, the current positioning of ‘social nutrition’ research within the nutrition sciences is critiqued.
There is fairly broad acceptance of the ‘social’ as an important contributor to successful public health nutrition situation analyses, intervention planning and implementation. However, we assert that the ‘social’ is not merely a contributor, the usual position, but is central. Implications for policy and practice that could follow from this shift in approach are outlined.
We call for researchers, educators, policy makers and practitioners alike to re-imagine the role and purpose of social science enquiry that could enable the delivery of more socially engaged nutrition sciences.