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.
Autoimmune (lymphocytic) hypophysitis is a rare disease that should be considered in the differential diagnosis of any nonsecreting pituitary mass, especially when occurring during pregnancy or postpartum. We have analyzed 370 articles published from January 1962 to October 2004 and identified a total of 379 patients with primary lymphocytic hypophysitis. The present review synthesizes the clinical and research data reported in this body of scientific literature.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with lifelong impacts. Genetic and environmental factors contribute to ASD etiology, which remains incompletely understood. Significant advances in ASD epidemiology have been seen in the past decade. Current prevalence is estimated to be at least 1.5% in developed countries, with recent increases primarily among those without comorbid intellectual disability. Genetic studies have identified a number of rare de novo mutations, and gained footing in the areas of polygenic risk, epigenetics, polygenic risk, and gene x environment (GxE) interaction. Epidemiologic investigations focused on non-genetic factors have established advanced parental age and preterm birth as ASD risk factors, indicated that prenatal exposure to air pollution and short inter-pregnancy interval are potential risk factors, and suggest that further exploration of certain prenatal nutrients, metabolic conditions, and exposure to endocrine-disrupting chemicals is warranted. Future challenges and goals for ASD epidemiology are discussed.
Objective At what age are children with an autism spectrum disorder (ASD) identified by community providers? What factors influence the timing of when children are identified with ASDs? This study examined the timing of when children with ASDs are identified. Method Data came from 13 sites participating in the Centers for Disease Control and Prevention’s 2002 multisite, ongoing autism surveillance program, the Autism and Developmental Disabilities Monitoring Network. Survival analysis was used to examine factors that influence the timing of community-based identification and diagnosis. Result Data from health and education records reveal that the median age of identification was 5.7 years (SE 0.08). Parametric survival models revealed that several factors were associated with a younger age of identification: being male, having IQ ≤ 70, and having experienced developmental regression. Significant differences in the age of identification among the 13 sites were also discovered. Conclusions The large gap between the age at which children can be identified and when they actually are identified suggests a critical need for further research, innovation, and improvement in this area of clinical practice.
This article reviews current evidence for autism spectrum disorder (ASD) interventions for children aged ,3 years, based on peerreviewed articles published up to December 2013. Several groups have adapted treatments initially designed for older, preschool-aged children with ASD, integrating best practice in behavioral teaching methods into a developmental framework based on current scientific understanding of how infants and toddlers learn. The central role of parents has been emphasized, and interventions are designed to incorporate learning opportunities into everyday activities, capitalize on "teachable moments," and facilitate the generalization of skills beyond the familiar home setting. Our review identified several comprehensive and targeted treatment models with evidence of clear benefits. Although some trials were limited to 8-to 12-week outcome data, enhanced outcomes associated with some interventions were evaluated over periods as long as 2 years. Based on this review, recommendations are proposed for clinical practice and future research. Pediatrics 2015;136:S60-S81
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