The development of autism spectrum disorders: variability and causal complexity

The autism spectrum is highly variable, both behaviorally and neurodevelopmentally. Broadly speaking, four related factors contribute to this variability: (1) genetic processes, (2) environmental events, (3) gene × environment interactions, and (4) developmental factors. Given the complexity of the relevant processes, it appears unlikely that autism spectrum atypicalities can be attributed to any one causal mechanism. Rather, the development of neural atypicality reflects an interaction of genetic and environmental risk factors. As the individual grows, changes in neural atypicality, consequent variation in behavior, and environmental response to that behavior may become linked in a positive feedback loop that amplifies deviations from the typical developmental pattern

Early Gesture and Vocabulary Development in Infant Siblings of Children with Autism Spectrum Disorder

This study examined longitudinal growth in gestures and words in infants at heightened (HR) vs. low risk (LR) for ASD. The MacArthur-Bates Communicative Development Inventory was administered monthly from 8 to 14 months and at 18 and 24 months to caregivers of 14 HR infants diagnosed with ASD (HR-ASD), 27 HR infants with language delay (HR-LD), 51 HR infants with no diagnosis (HR-ND), and 28 LR infants. Few differences were obtained between LR and HR-ND infants, but HR-LD and HR-ASD groups differed in initial skill levels and growth patterns. While HR-LD infants grew at rates comparable to LR and HR-ND infants, growth was attenuated in the HR-ASD group, with trajectories progressively diverging from all other groups

Microfluidic Chip for Molecular Amplification of Influenza A RNA in Human Respiratory Specimens

A rapid, low cost, accurate point-of-care (POC) device to detect influenza virus is needed for effective treatment and control of both seasonal and pandemic strains. We developed a single-use microfluidic chip that integrates solid phase extraction (SPE) and molecular amplification via a reverse transcription polymerase chain reaction (RT-PCR) to amplify influenza virus type A RNA. We demonstrated the ability of the chip to amplify influenza A RNA in human nasopharyngeal aspirate (NPA) and nasopharyngeal swab (NPS) specimens collected at two clinical sites from 2008–2010. The microfluidic test was dramatically more sensitive than two currently used rapid immunoassays and had high specificity that was essentially equivalent to the rapid assays and direct fluorescent antigen (DFA) testing. We report 96% (CI 89%,99%) sensitivity and 100% (CI 95%,100%) specificity compared to conventional (bench top) RT-PCR based on the testing of n = 146 specimens (positive predictive value = 100%(CI 94%,100%) and negative predictive value = 96%(CI 88%,98%)). These results compare well with DFA performed on samples taken during the same time period (98% (CI 91%,100%) sensitivity and 96%(CI 86%,99%) specificity compared to our gold standard testing). Rapid immunoassay tests on samples taken during the enrollment period were less reliable (49%(CI 38%,61%) sensitivity and 98%(CI 98%,100%) specificity). The microfluidic test extracted and amplified influenza A RNA directly from clinical specimens with viral loads down to 103 copies/ml in 3 h or less. The new test represents a major improvement over viral culture in terms of turn around time, over rapid immunoassay tests in terms of sensitivity, and over bench top RT-PCR and DFA in terms of ease of use and portability

Early Gesture and Vocabulary Development in Infant Siblings of Children with Autism Spectrum Disorder

This study examined longitudinal growth in gestures and words in infants at heightened (HR) versus low risk (LR) for ASD. The MacArthur-Bates Communicative Development Inventory was administered monthly from 8 to 14 months and at 18 and 24 months to caregivers of 14 HR infants diagnosed with ASD (HR-ASD), 27 HR infants with language delay (HR-LD), 51 HR infants with no diagnosis (HR-ND), and 28 LR infants. Few differences were obtained between LR and HR-ND infants, but HR-LD and HR-ASD groups differed in initial skill levels and growth patterns. While HR-LD infants grew at rates comparable to LR and HR-ND infants, growth was attenuated in the HR-ASD group, with trajectories progressively diverging from all other groups

Observed emotional reactivity in response to frustration tasks in psychiatrically hospitalized youth with autism spectrum disorder

Large emotional reactions (e.g. outbursts, tantrums) can be common and distressing in the lives of individuals with autism spectrum disorder and their families. Most previous research that has examined these types of emotional responses have used questionnaire data or focused only on young children. In addition, very little research has included individuals across a large range of intellectual and functional abilities or individuals with more severe emotional and/or behavioral difficulties. This study examined emotional reactions to frustrating tasks in 6-21-year-olds with autism spectrum disorder who were psychiatrically hospitalized due to emotional and/or behavioral difficulties. We describe change in the amount, intensity, duration, and range of emotional reactions that the participants displayed from a neutral activity to the frustrating tasks and then to a neutral recovery period. We also examined associations between characteristics of the participants and these emotional reactions. We found that younger children displayed more negative emotions across the neutral and frustrating tasks; however, age did not relate to how big their reactions to frustration were. Furthermore, we found that individuals with fewer adaptive skills (i.e. age-appropriate life skills) and minimally verbal individuals had bigger reactions and recovered less following the frustration tasks. The results highlight the importance of examining emotional reactions in individuals with lower verbal and adaptive abilities and for interventions to consider the connection between verbal and adaptive skills and emotional reactions

Describing Multidomain Health Outcomes in Autistic Children in the ECHO Program

The goal of this study is to characterize health outcomes across 3 domains—overall well-being, behavioral health, and physical health—in a large sample of autistic and non-autistic children and adolescents in the Environmental influences on Child Health Outcomes (ECHO) program. First, we examined differences in health outcomes between autistic (N = 286) and non-autistic (N = 4,225) children and adolescents in the ECHO Program. Using a subsample of 1,809 participants (116 autistic participants) with complete outcome data, we conducted latent profile analyses (LPAs) to define profiles of health outcomes for autistic children and adolescents and for the combined sample of autistic and non-autistic participants. Finally, we examined demographic factors in relation to the health outcome profiles. Autistic participants demonstrated poorer health outcomes than non-autistic participants for most outcome measures across the domains of overall well-being, behavioral health, and physical health. In the combined sample LPA, 3 profiles, representing more positive health (n = 566, 31.3%), poorer health (n = 462, 25.5%), and mixed health (n = 781, 43.2%), were identified. The profile with the poorer health outcomes had the highest proportion of autistic participants (n = 64, 13.9%). However, within the autistic group, LPA revealed 2 profiles of autistic participants, with 1 profile (n = 70, 60.3%) having more positive health outcomes across all domains. Although autistic participants demonstrated poorer health outcomes than non-autistic participants on most measures, examining latent profiles within the group of autistic participants highlighted variability in the health outcomes among autistic youth. Results emphasize the importance of examining variability within autistic samples to better understand multidimensional health influences and outcomes of individuals on the autism spectrum. One or more of the authors of this paper self-identifies as a member of one or more historically underrepresented sexual and/or gender groups in science