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Significant advancements have been made in early intervention programs for children with Autism spectrum disorder (ASD). However, measuring treatment response for children with ASD is difficult due to the heterogeneity of changes in symptoms, which can be subtle, especially over a short period of time. Here we outline the challenge of evaluating treatment response with currently available measures as well as newly developed or refined measures that may be useful in clinical trials for young children with ASD. Continued development of treatment outcome measures will help the field identify and compare efficacious interventions and tailor treatments for children with ASD.Prior studies have documented a lower quality of life (QOL) in children with autism spectrum disorder (ASD) compared to typically developing peers, but few studies have examined the trajectory of QOL over time in the same population. We conducted a 2-year cohort study in 29 children attending a specialized school for ASD with quarterly measures of parent-rated QOL as well as parent and teacher measures of behavior and social skills to determine the trajectory of change in QOL and predictors of change. The average change in QOL was constant (no change over time), but there was substantial variation with some students showing significant gains and others showing declines. Exploratory analyses revealed that improvements in behavior and social skills were greater (nonsignificantly) among children with improvements in QOL. Children with improved QOL were also younger and had a lower initial symptom burden. This study suggests that early intervention programs that provide social skills and behavioral management strategies may improve QOL in children with ASD. The study also highlights the need to develop and study novel, qualitative measures of QOL in this population.The explosion in knowledge, technology, and clinical capabilities regarding genetics and genetic testing has expanded greatly in recent years, and these gains have rapidly been applied to individuals with autism spectrum disorder (ASD). However, most clinicians are unaware or confused in regards to whom to test, what tests to order, and how testing might alter management and improve outcomes. This review will address these issues. Research shows that ASD is highly genetic, and while monogenic cases are common, most patients have multiple genes interacting in disease pathogenesis. However, as genetics dictates disease risk, not outcomes, this does not exclude environmental factors. Clinically actionable genetics test results can be found across the phenotypically-heterogeneous ASD spectrum; thus recommendations are to test everyone. As ASD is also highly genetically heterogeneous, testing should address a wide range of variant types, including both large (historically detected by microarray) and small (detecteoccur in common associated ASD symptoms (attention, behavior, and anxiety) and/or in general systemtic symptoms (nausea, fatigue, pain), as demonstrated in brief case reports. Practical guidance is provided regarding assisting clinicians to choose the appropriate test(s) and laboratory, as well as how to get testing paid for. Recent cost reductions now allow for most families to benefit from genetic testing.An ever-evolving understanding of autism spectrum disorder (ASD) pathophysiology necessitates that diagnostic standards also evolve from being observation-based to include quantifiable clinical measurements. The multisystem nature of ASD motivates the use of multivariate methods of statistical analysis over common univariate approaches for discovering clinical biomarkers relevant to this goal. In addition to characterization of important behavioral patterns for improving current diagnostic instruments, multivariate analyses to date have allowed for thorough investigation of neuroimaging-based, genetic, and metabolic abnormalities in individuals with ASD. This review highlights current research using multivariate statistical analyses to quantify the value of these behavioral and physiological markers for ASD diagnosis. A detailed discussion of a blood-based diagnostic test for ASD using specific metabolite concentrations is also provided. The advancement of ASD biomarker research promises to provide earlier and more accurate diagnoses of the disorder.Autism spectrum disorder (ASD) is one of the most challenging neurodevelopmental disorders of our era that the Centers for Disease Control and Prevention estimates the prevalence to be about 1 in 59 children in the United States. Over the last two decades, research focusing on ASD has increased, particularly in areas focusing on physiological disruptions such as mitochondrial and redox metabolism abnormalities, immune system dysfunction and environmental health, although research focusing on genetics and behavior still predominate the field. Drug treatment trials have provided few “home runs” with many failures and some promising, but preliminary, results. A series of two issues of Seminars in Pediatric Neurology will provide articles representing the cutting edge of research and clinical care for children with ASD. The first issue will contain three articles on Advances in Diagnostic Methodology and three articles on Cutting Edge Method for Studying Outcomes. The second issue will contain articles on Advances in Early Screening and Diagnosis on the Front Lines and Novel and Cutting-Edge Therapies. I believe the two issues will provide significant insight into new and exciting developments in the field as well as provide a framework for understanding the challenges ahead.The responsible use of gadolinium based contrast agents (GBCAs) requires a balance between safety and clinical utility. While nephrogenic systemic fibrosis has been associated with most linear GBCAs few, if any, new cases have been verified since the successful implementation of screening programs to detect renal impairment and prevent susceptible patients from receiving these higher-risk agents. read more The likelihood of developing nephrogenic systemic fibrosis has been shown to be negligible with macrocyclic agents, prompting the American College of Radiology and other regulatory agencies to suggest that no screening is necessary when they are used. There is no solid evidence of negative clinical effect from the retention of macrocyclic agents in the brain while there is evidence that they wash out of the brain over time. GBCAs have many important clinical uses that can help prevent morbidity or death. This article reviews the risks and benefits of GBCA administration.