Genomics and Autism Spectrum Disorder (ASD)

Purpose: To understand the current state of the evidence regarding translation of genetics and genomics into nursing care of children with (ASD)

Vitamin D in the general population of young adults with autism in the Faroe Islands

Vitamin D deficiency has been proposed as a possible risk factor for developing autism spectrum disorder (ASD). 25-Hydroxyvitamin D3 (25(OH)D3) levels were examined in a cross-sectional population-based study in the Faroe Islands. The case group consisting of a total population cohort of 40 individuals with ASD (aged 15–24 years) had significantly lower 25(OH)D3 than their 62 typically-developing siblings and their 77 parents, and also significantly lower than 40 healthy age and gender matched comparisons. There was a trend for males having lower 25(OH)D3 than females. Effects of age, month/season of birth, IQ, various subcategories of ASD and Autism Diagnostic Observation Schedule score were also investigated, however, no association was found. The very low 25(OH)D3 in the ASD group suggests some underlying pathogenic mechanism

Many Young Children with Autism Who Use Psychotropic Medication Do Not Receive Behavior Therapy: A Multisite Case-Control Study

Objectives: To explore how many pre-school aged children with autism spectrum disorder (ASD) used psychotropic medication, child and geographic factors associated with psychotropic medication use, and how many children who used psychotropic medication did or did not ever receive behavior therapy. Study design: Children 2-5 years of age were enrolled from 2012 to 2016 in a multisite case-control study designed to investigate the development and risk factors of ASD. Children with a positive ASD screen or ASD diagnosis upon enrollment were asked to complete a comprehensive evaluation to determine ASD status and developmental level. Caregivers completed a Services and Treatments Questionnaire and multiple self-administered questionnaires to determine child use of psychotropic medication, ever receipt of behavior therapy, and presence of co-occurring symptoms. Results: There were 763 children who were classified as ASD and had data collected on the Services and Treatments Questionnaire. Of those, 62 (8.1%) used psychotropic medication to treat behavioral symptoms and 28 (3.7%) were ≤3 years of age when medication was first started. Attention problems (aOR, 7.65; 95% CI, 3.41-16.1; P < .001) and study site (aOR, 2.62; 95% CI, 1.04-6.56; P = .04) were significantly associated with psychotropic medication use after controlling for maternal race/ethnicity. More than one-half (59.7%) of those who used psychotropic medication did not ever receive behavior therapy. Conclusions: Many preschool-aged children with ASD who use psychotropic medication do not receive behavior therapy. Pediatricians are an important resource for children and families and can help facilitate behavioral treatment for children with ASD and other disorders

Time to care: why the humanities and the social sciences belong in the science of health

Health is more than the absence of disease. It is also more than a biological phenomenon. It is inherently social, psychological, cultural, and historical. Social and personal resources are both key components and key determinants of health, as it has been recognised by major health actors for decades [1–3]. However, open questions remain as to how to build systems that reflect the complexity of health, healthy lives, disease, and sickness, and in a context that is increasingly technologized. Although we find in the literature an increasing understanding of the complexity of health [4–7], the implementation of this knowledge lags behind. Biological approaches to health and disease, as a matter of fact, dominate the development of curative and preventive interventions. We argue that an urgent change of approach is necessary. Methods and concepts from the humanities and social science must be embedded in the concepts and methods of the health sciences and of public health, if we are to promote sustainable interventions capable of engaging with the recognized complexity of health, healthy lives, disease, and sickness. This resonates with the vision expressed by UK Health Secretary and by many policy documents [8,9] from the last decades. Yet, given the difficulties associated with interdisciplinary research, integrated strategies to understand and to intervene on the complexity of health and that engage with biological, social, psychological and behavioural factors are still needed. Our vision is one of radical interdisciplinarity, integrating aspects of biological, psychological, social, and humanities approaches across areas of urgent health need. These areas include, but is not confined to, chronic conditions such as the obesity epidemic, cancer, mental health. Radical interdisciplinarity entails the practical, methodological, and conceptual integration of approaches to health, as they are developed in the health and social sciences, and in the humanities. It is the combination of cognitive resources from individuals belonging to different disciplines, who accept and respect the division of labour and the resulting epistemic dependence to tackle phenomena that would not be adequately conceptualised within any of the involved discipline alone [10]. In what follows, we describe our current understanding of these three aspects, and describe how radical interdisciplinarity would change them.Not funde

The epidemiology of autism spectrum disorders

Autism spectrum disorders (ASDs) are complex, lifelong, neurodevelopmental conditions of largely unknown cause. They are much more common than previously believed, second in frequency only to mental retardation among the serious developmental disorders. Although a heritable component has been demonstrated in ASD etiology, putative risk genes have yet to be identified. Environmental risk factors may also play a role, perhaps via complex gene-environment interactions, but no specific exposures with significant population effects are known. A number of endogenous biomarkers associated with autism risk have been investigated, and these may help identify significant biologic pathways that, in turn, will aid in the discovery of specific genes and exposures. Future epidemiologic research should focus on expanding population-based descriptive data on ASDs, exploring candidate risk factors in large well-designed studies incorporating both genetic and environmental exposure data and addressing possible etiologic heterogeneity in studies that can stratify case groups and consider alternate endophenotypes

Sex differences in the timing of identification among children and adults with autism spectrum disorders

To examine differences by sex in the timing of identification of individuals with autism spectrum disorders (ASD), survey data were collected in the Netherlands from 2,275 males and females with autistic disorder, Asperger's syndrome and PDD-NOS. Among participants <18 years of age, females with Asperger's syndrome were identified later than males. Among participants ≥18 years of age, females with autistic disorder were identified later than males. In more recent years, girls with Asperger's syndrome are diagnosed later than boys, confirming earlier findings. In adults, the delayed timing of diagnosis in females with autistic disorder may be related to changing practices in diagnosis over time. Strategies for changing clinician behaviour to improve recognition of ASD in females are needed. © 2012 Springer Science+Business Media, LLC