By definition, autism spectrum disorder (ASD) is a neurodevelopmental disorder that emerges during early childhood. It is during this time that infants and toddlers transition from appearing typical ...across multiple domains to exhibiting the behavioral phenotype of ASD. Neuroimaging studies focused on this period of development have provided crucial knowledge pertaining to this process, including possible mechanisms underlying pathogenesis of the disorder and offering the possibility of prodromal or presymptomatic prediction of risk. In this paper, we review findings from structural and functional brain imaging studies of ASD focused on the first years of life and discuss implications for next steps in research and clinical applications.
This commentary highlights pervasive challenges related to the science of intellectual and developmental disabilities (IDD), which we often take for granted. We argue that social power asymmetry and ...entrenched patterns of epistemic injustices undermine our science and call attention to the need to maximize our efforts to undo these unfair practices to enhance future care and research in IDD.
The human brain undergoes extensive and dynamic growth during the first years of life. The UNC/UMN Baby Connectome Project (BCP), one of the Lifespan Connectome Projects funded by NIH, is an ongoing ...study jointly conducted by investigators at the University of North Carolina at Chapel Hill and the University of Minnesota. The primary objective of the BCP is to characterize brain and behavioral development in typically developing infants across the first 5 years of life. The ultimate goals are to chart emerging patterns of structural and functional connectivity during this period, map brain-behavior associations, and establish a foundation from which to further explore trajectories of health and disease. To accomplish these goals, we are combining state of the art MRI acquisition and analysis techniques, including high-resolution structural MRI (T1-and T2-weighted images), diffusion imaging (dMRI), and resting state functional connectivity MRI (rfMRI). While the overall design of the BCP largely is built on the protocol developed by the Lifespan Human Connectome Project (HCP), given the unique age range of the BCP cohort, additional optimization of imaging parameters and consideration of an age appropriate battery of behavioral assessments were needed. Here we provide the overall study protocol, including approaches for subject recruitment, strategies for imaging typically developing children 0–5 years of age without sedation, imaging protocol and optimization, a description of the battery of behavioral assessments, and QA/QC procedures. Combining HCP inspired neuroimaging data with well-established behavioral assessments during this time period will yield an invaluable resource for the scientific community.
•Complete description of the UNC/UMN Baby Connectome Project (BCP) protocol.•The importanc'e of dense longitudinal sampling.•Protocol optimization and preliminary results of optimized imaging protocol.•BCP study data as a unique resource for the scientific community.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social deficits and repetitive behaviors that typically emerge by 24 months of age. To develop effective early ...interventions that can potentially ameliorate the defining deficits of ASD and improve long-term outcomes, early detection is essential. Using prospective neuroimaging of 59 6-month-old infants with a high familial risk for ASD, we show that functional connectivity magnetic resonance imaging correctly identified which individual children would receive a research clinical best-estimate diagnosis of ASD at 24 months of age. Functional brain connections were defined in 6-month-old infants that correlated with 24-month scores on measures of social behavior, language, motor development, and repetitive behavior, which are all features common to the diagnosis of ASD. A fully cross-validated machine learning algorithm applied at age 6 months had a positive predictive value of 100% 95% confidence interval (CI), 62.9 to 100, correctly predicting 9 of 11 infants who received a diagnosis of ASD at 24 months (sensitivity, 81.8%; 95% CI, 47.8 to 96.8). All 48 6-month-old infants who were not diagnosed with ASD were correctly classified specificity, 100% (95% CI, 90.8 to 100); negative predictive value, 96.0% (95% CI, 85.1 to 99.3). These findings have clinical implications for early risk assessment and the feasibility of developing early preventative interventions for ASD.
How people extract visual information from complex scenes provides important information about cognitive processes. Eye tracking studies that have used naturalistic, rather than highly controlled ...experimental stimuli, reveal that variability in looking behavior is determined by bottom-up image properties such as intensity, color, and orientation, top-down factors such as task instructions and semantic information, and individual differences in genetics, cognitive function and social functioning. These differences are often revealed using areas of interest that are chosen by the experimenter or other human observers. In contrast, we adopted a data-driven approach by using machine learning (Support Vector Machine (SVM) and Deep Learning (DL)) to elucidate factors that contribute to age-related variability in gaze patterns. These models classified the infants by age with a high degree of accuracy, and identified meaningful features distinguishing the age groups. Our results demonstrate that machine learning is an effective tool for understanding how looking patterns vary according to age, providing insight into how toddlers allocate attention and how that changes with development. This sensitivity for detecting differences in exploratory gaze behavior in toddlers highlights the utility of machine learning for characterizing a variety of developmental capacities.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
The quantitative assessment of eye tracking data quality is critical for ensuring accuracy and precision of gaze position measurements. However, researchers often report the eye tracker's optimal ...manufacturer's specifications rather than empirical data about the accuracy and precision of the eye tracking data being presented. Indeed, a recent report indicates that less than half of eye tracking researchers surveyed take the eye tracker's accuracy into account when determining areas of interest for analysis, an oversight that could impact the validity of reported results and conclusions. Accordingly, we designed a calibration verification protocol to augment independent quality assessment of eye tracking data and examined whether accuracy and precision varied between three age groups of participants. We also examined the degree to which our externally quantified quality assurance metrics aligned with those reported by the manufacturer. We collected data in standard laboratory conditions to demonstrate our method, to illustrate how data quality can vary with participant age, and to give a simple example of the degree to which data quality can differ from manufacturer reported values. In the sample data we collected, accuracy for adults was within the range advertised by the manufacturer, but for school-aged children, accuracy and precision measures were outside this range. Data from toddlers were less accurate and less precise than data from adults. Based on an
inclusion criterion, we determined that we could exclude approximately 20% of toddler participants for poor calibration quality quantified using our calibration assessment protocol. We recommend implementing and reporting quality assessment protocols for any eye tracking tasks with participants of any age or developmental ability. We conclude with general observations about our data, recommendations for what factors to consider when establishing data inclusion criteria, and suggestions for stimulus design that can help accommodate variability in calibration. The methods outlined here may be particularly useful for developmental psychologists who use eye tracking as a tool, but who are not experts in eye tracking
. The calibration verification stimuli and data processing scripts that we developed, along with step-by-step instructions, are freely available for other researchers.
Specific differences in visual orienting, critical in social-cognitive development, are associated with differences in white matter microstructure of the splenium.
ObjectiveThe authors sought to ...determine whether specific patterns of oculomotor functioning and visual orienting characterize 7-month-old infants who later meet criteria for an autism spectrum disorder (ASD) and to identify the neural correlates of these behaviors.MethodData were collected from 97 infants, of whom 16 were high-familial-risk infants later classified as having an ASD, 40 were high-familial-risk infants who did not later meet ASD criteria (high-risk negative), and 41 were low-risk infants. All infants underwent an eye-tracking task at a mean age of 7 months and a clinical assessment at a mean age of 25 months. Diffusion-weighted imaging data were acquired for 84 of the infants at 7 months. Primary outcome measures included average saccadic reaction time in a visually guided saccade procedure and radial diffusivity (an index of white matter organization) in fiber tracts that included corticospinal pathways and the splenium and genu of the corpus callosum.ResultsVisual orienting latencies were longer in 7-month-old infants who expressed ASD symptoms at 25 months compared with both high-risk negative infants and low-risk infants. Visual orienting latencies were uniquely associated with the microstructural organization of the splenium of the corpus callosum in low-risk infants, but this association was not apparent in infants later classified as having an ASD.ConclusionsFlexibly and efficiently orienting to salient information in the environment is critical for subsequent cognitive and social-cognitive development. Atypical visual orienting may represent an early prodromal feature of an ASD, and abnormal functional specialization of posterior cortical circuits directly informs a novel model of ASD pathogenesis.
Objective
According to Cybernetic Big Five Theory (CB5T), personality traits reflect variation in the parameters of evolved cybernetic mechanisms, and extreme manifestations of these traits ...correspond to a risk for psychopathology because they threaten the organism's ability to pursue its goals effectively. Our theory of autism as a consequence of low Plasticity extends CB5T to provide a cybernetic account of the origin of autistic traits. The theory argues that, because all psychological competencies are initially developed through exploration, typical development requires sensitivity to the incentive reward value of the unknown (i.e., the unpredicted). According to CB5T, motivation to explore the unknown is the core function underlying the metatrait Plasticity, the shared variance of Extraversion and Openness/Intellect. This theory makes predictions regarding the downstream developmental consequences of early low Plasticity, and each prediction maps well onto autistic symptomatology.
Method
We surveyed 387 people. Measures included the Autism Quotient (AQ) scale and International Personality Item Pool items that are indicators of Plasticity and Stability.
Results
The association between AQ and Plasticity was β = −.64.
Conclusion
A strong negative correlation between Plasticity and AQ suggests ASD may be closely linked to a low sensitivity to the incentive reward value of the unknown.
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BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Background
Atypical sensory responsivity and sensory interests are now included in the DSM 5 diagnostic criteria for autism spectrum disorder (ASD) under the broad domain of restricted and repetitive ...behavior (RRB). However, relatively little is known about the emergence of sensory‐related features and their relation to conventionally defined RRB in the first years of life.
Methods
Prospective, longitudinal parent‐report data using the Sensory Experiences Questionnaire (SEQ) were collected for 331 high‐risk toddlers (74 of whom met diagnostic criteria for ASD at age 2) and 135 low‐risk controls. Longitudinal profiles for SEQ scores were compared between groups across ages 12–24 months. Associations between SEQ measures and measures of RRB subtypes (based on the Repetitive Behavior Scale, Revised) were also examined.
Results
Longitudinal profiles for all SEQ scores significantly differed between groups. SEQ scores were elevated for the ASD group from age 12 months, with differences becoming more pronounced across the 12–24 month interval. At both 12 and 24 months, most measures derived from the SEQ were significantly associated with all subtypes of RRB.
Conclusions
These findings suggest that differences in sensory responsivity may be evident in high‐risk infants later diagnosed with ASD in early toddlerhood, and that the magnitude of these differences increases over the second year of life. The high degree of association between SEQ scores and RRB supports the conceptual alignment of these features but also raises questions as to explanatory mechanisms.
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BFBNIB, DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UILJ, UKNU, UL, UM, UPUK
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