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The mechanisms by which infant-directed speech and song support language development in infancy are poorly understood, with most prior investigations focused on the auditory components of these signals. However, the visual components of infant-directed communication are also of fundamental importance for language learning: over the first year of life, infants' visual attention to caregivers' faces during infant-directed speech switches from a focus on the eyes to a focus on the mouth, which provides synchronous visual cues that support speech and language development. Caregivers' facial displays during infant-directed song are highly effective for sustaining infants' attention. Here we investigate if infant-directed song specifically enhances infants' attention to caregivers' mouths. 299 typically developing infants watched clips of female actors engaging them with infant-directed song and speech longitudinally at six time points from 3-12 months of age while eye-tracking data was collected. Infants' mouth-looking significantly increased over the first year of life with a significantly greater increase during infant-directed song versus speech. This difference was early-emerging (evident in the first 6 months of age) and sustained over the first year. Follow-up analyses indicated specific properties inherent to infant-directed song (e.g., slower tempo, reduced rhythmic variability) in part contribute to infants' increased mouth-looking, with effects increasing with age. The exaggerated and expressive facial features that naturally accompany infant-directed song may make it a particularly effective context for modulating infants' visual attention and supporting speech and language development in both typically developing infants and those with or at risk for communication challenges. This article is protected by copyright. All rights reserved.

Differential diagnosis of young children with suspected autism spectrum disorder (ASD) is challenging, and clinician uncertainty about a child's diagnosis may contribute to misdiagnosis and subsequent delays in access to early treatment. The current study was designed to replicate and expand a recent report in this Journal (McDonnell et al. in J Autism Dev Disord 49:1391-1401, https://doi.org/10.1080/15374416.2020.1823850 , 2019), in which only 60% of diagnoses were made with complete certainty by clinicians evaluating 478 toddlers and preschool children referred for possible ASD to specialized clinics. In this study, secondary analyses were performed on diagnostic, demographic and clinical data for 496 16-30-month-old children who were consecutive referrals to a 6-site clinical trial executed by specialized centers with experienced clinicians following best-practice procedures for the diagnosis of ASD. Overall, 70.2% of diagnoses were made with complete certainty. The most important factor associated with clinician uncertainty was mid-level autism-related symptomatology. Mid-level verbal age equivalents were also associated with clinician uncertainty, but measures of symptomatology were stronger predictors. None of the socio-demographic variables, including sex of the child, was significantly associated with clinician certainty. Close to one third of early diagnoses of ASD are made with a degree of uncertainty. The delineation of specific ranges on the ADOS-2 most likely to result in clinician uncertainty identified in this study may provide an opportunity to reduce random subjectivity in diagnostic decision-making via calibration of young-child diagnostic thresholds based on later-age longitudinal diagnostic outcome data, and via standardization of decision-making in regard to clinical scenarios frequently encountered by clinicians.

Children who are nurtured, protected, and supported in the first years of life tend to have better individual outcomes and are more likely to grow to become healthy, productive adults. Child well-being varies across states, yet the field lacks a comprehensive review of infant and toddler indicators measured at the state-level. This paper reviews indicators of well-being from the prenatal period to three years that meet certain a priori criteria. Most of the child-level indicators identified were in the physical health domain; relatively fewer indicators were found in the early cognition and language or social-emotional-behavioral domains. While some states are making progress toward developing integrated early childhood data systems, more work is needed to provide robust data on infant and toddler development. These results highlight the need to develop a broader range of indicators of infant and toddler well-being and improve measurement sources to better inform policies and programs advancing population health.

Infants show shifting patterns of visual engagement to faces over the first years of life. To explore the adaptive implications of this engagement, we collected eye-tracking measures on cross-sectional samples of 10-25-month-old typically developing toddlers (TD;N = 28) and those with autism spectrum disorder (ASD;N = 54). Concurrent language assessments were conducted and relationships between visual engagement and expressive and receptive language were analyzed between groups, and within ASD subgroups. TD and ASD toddlers exhibited greater mouth- than eye-looking, with TD exhibiting higher levels of mouth-looking than ASD. Mouth-looking was positively associated with expressive language in TD toddlers, and in ASD toddlers who had acquired first words. Mouth-looking was unrelated to expressive language in ASD toddlers who had not yet acquired first words.

This review focuses on four interrelated teams and research lines that form the basis for new research on the pathogenesis of autism spectrum disorder (ASD) at the Marcus Autism Center, in Atlanta (US). These themes probe typical social behavior and brain development from birth, and disruptions thereof in babies later diagnosed with ASD. These four themes are: to leverage lifetime maximal neuroplasticity; to test the hypothesis that developmental disruption of early-emerging mechanisms of socialization drives pathogenesis and results in autistic social disability; the focus on the infant-caregiver dyad, and the iterative context associated with mutually reinforcing and adapted social and communitive inter-action, or emerging cycles of social contingency, from the first days and weeks of life; and the study of time-varying neurodevelopmental transitions in social behavior from experience-expectant (reflexive, endogenous) and subcortically-guided to experience-dependent (caregiver- and reward-driven) and cortically-guided, a transition that our work suggests is uniquely disrupted in babies later diagnosed with ASD. This science is opening a world of opportunities to optimize children's outcomes despite the genetic liabilities that they are born with. It provides the scientific grounding for new community-viable solutions for increasing access to early interventions using treatments that scaffold and strengthen infant-caregiver interactions, which is the platform for early brain development.Esta revisión se centra en cuatro equipos y líneas de investigación interrelacionados que forman la b ase de nuevas investigaciones sobre la patogenia del Trastorno del Espectro Autista (TEA) en el Marcus Autism Center, en Atlanta (EE.UU.). Estos temas investigan el comportamiento social típico y el desarrollo del cerebro desde el nacimiento, y las alteraciones del mismo en los bebés a los que luego se les diagnostica TEA. Estos cuatro temas son: aprovechar la neuroplasticidad máxima en la vida; probar la hipótesis de que la interrupción del desarrollo de los mecanismos de socialización emergentes impulsa la patogénesis y da como resultado una discapacidad social autista; el enfoque en la díada bebé-cuidador, y el contexto iterativo asoc iado con la mutua interacción de refuerzo social y comunitario, o ciclos emergentes de contingencia social, desde los primeros días y semanas de vida; y el estudio de las transiciones del comportamiento social variable en el tiempo del neurodesarrollo desde la experienciaexpectante (reflexiva, endógena) y guiada subcorticalmente, a la experiencia-dependiente (cuidador e impulsado por la recompensa) y guiada corticalmente, una transición que nuestro trabajo sugiere que se interrumpe únicamente en bebés diagnosticados posteriormente con TEA.

Individuals with autism spectrum disorder and average IQ exhibit a widening discrepancy between lagging adaptive skills relative to their cognitive potential, but it is unknown when this discrepancy emerges in development. To address this important question, we measured adaptive and cognitive skills longitudinally, from 12–36 months, in 96 low-risk typically developing infants and 69 high-risk siblings of children with autism spectrum disorder who at 36 months were diagnosed with autism spectrum disorder ( N = 21), the broader autism phenotype ( N = 19), or showed no concerns (unaffected; N = 29). Results indicate that both cognitive and adaptive communication skills remained stable over time for all four groups, but toddlers with autism spectrum disorder and the broader autism phenotype failed to keep pace with unaffected and typically developing toddlers with regard to adaptive socialization skills and, to a lesser extent, daily living skills. The odds of having a discrepant developmental profile, with average cognitive skills and below average adaptive skills, was significantly greater for socialization and daily living skills in toddlers with autism spectrum disorder or the broader autism phenotype and increased over time from 12 to 36 months. The discrepancy between adaptive skills and cognition emerges early and widens over time for infants with autism spectrum disorder symptomology, supporting early assessment and intervention of adaptive socialization and daily living skills.

Early intervention has been established as efficacious in addressing developmental delays in young children with autism spectrum disorder. Evidence that caregiver-implemented interventions are feasible and effective for young children with autism spectrum disorder is emerging, yet research suggests there are barriers to enrollment in clinical trials of these interventions for infants at risk for autism. This study identifies factors associated with enrollment in a clinical trial of a caregiver-implemented intervention for 12-month-old infants at risk for autism spectrum disorder. As part of a large longitudinal study, fifty-seven infants were deemed eligible for intervention based on several converging indicators of autism risk. Of these eligible infants, 44% declined enrollment in the intervention study. Examination of factors associated with families who declined enrollment compared to those who agreed to enroll revealed maternal full-time work status, household income, and distance to the clinic as significant predictors. In contrast, autism red flags and parental concern were not significantly associated with enrollment. These results highlight the need for more research on how parental understanding of, and willingness to act on, early social-communication delays impacts intervention study enrollment. Future research can then examine how to address these barriers to enrollment in caregiver-implemented intervention studies. Lay abstract Early intervention helps to address developmental delays in young children with autism spectrum disorder. Yet, research suggests there are barriers to enrollment into research studies that test the effectiveness of these interventions for infants at risk. This study identifies family characteristics that were associated with agreement to enroll in a clinical trial of early intervention for 12-month-old infants at risk for autism spectrum disorder. As part of a large longitudinal study, infants were evaluated for early signs of autism spectrum disorder at 1 year of age. Of the fifty-seven infants who were showing signs of autism and deemed eligible for the early intervention trial, 44% declined enrollment. Results suggest that families were more likely to decline enrolling into the intervention study if the mother was working full time, the total household income was between US$60,000 and US$100,000, and they lived further from the clinic. In contrast, infant autism symptoms and parental concern at 12 months were not significantly associated with enrollment. These findings highlight the need for intervention studies that are more accessible to parents, for example, intervention that takes place in the home, in addition to more research on how parental understanding of, and willingness to act on, early social-communication delays impact intervention study enrollment. Future research can then examine how to address these barriers to enrollment in early intervention studies. Such findings will shed light on best practices for dissemination of early identification and intervention strategies.

Eye-blinking has emerged as a promising means of measuring viewer engagement with visual content. This method capitalizes on the fact that although we remain largely unaware of our eye-blinking in everyday situations, eye-blinks are inhibited at precise moments in time so as to minimize the loss of visual information that occurs during a blink. Probabilistically, the more important the visual information is to the viewer, the more likely he or she will be to inhibit blinking. In the present study, viewer engagement was experimentally manipulated in order to: (1) replicate past studies suggesting that a group of viewers will blink less often when watching content that they perceive as more important or relevant; (2) test the reliability of the measure by investigating constraints on the timescale over which blink rate patterns can be used to accurately quantify viewer engagement; and (3) examine whether blink rate patterns can be used to quantify what an individual – as opposed to a group of viewers—perceives as engaging. Results demonstrate that blink rate patterns can be used to measure changes in individual and group engagement that unfold over relatively short (1 second) and long (60 second) timescales. However, for individuals with lower blink rates, blink rate patterns may provide less optimal measures when engagement shifts rapidly (at intervals of 1 second or less). Findings support the use of eye-blink measures in future studies investigating a person’s subjective perception of how engaging a stimulus is.

Although autism spectrum disorder (ASD) is the most strongly genetic of all complex neuropsychiatric disorders, it is still defined and diagnosed behaviorally. The vast genotypic and phenotypic heterogeneity of the condition necessitate a vigorous search for biological markers capable of aiding in diagnosis, identifying more homogeneous subgroups for biological study, individualizing treatment, and measuring treatment response. Many candidate biomarkers are available, spanning genetic, metabolic, electroencephalographic, magnetic resonance imaging, and neuropsychological methods. Although biomarker research has focused primarily on mechanistic etiologic hypotheses, the biomarkers more likely to result in optimized clinical outcomes in the near term are cost-effective and community-viable measures obtained through eye-tracking technology involving infants and toddlers. Although these tools are still far from being ready for widespread application, the goal is to develop objective procedures and measures for population-based screening and diagnosis to increase access to early treatment and intervention.

This chapter provides an overview of early milestones for social development and discusses the markers for social disabilities, such as autism spectrum disorder, that can be identified in children at risk. The principles and elements of a comprehensive clinical evaluation of infants and toddlers at risk for autism spectrum disorder will be discussed, including how to differentiate social disabilities from non–autism spectrum disorder developmental disorders. While some of these principles can build on proven experience in the assessment of older children (Klin, Carter, & Sparrow, 1997), there is an emphasis on unique challenges and opportunities associated with our attempt to intuit, measure, and explain social development at these tender ages (Chawarska, Klin, Paul, Macari, & Volkmar, 2009; Macari et al., 2012; Zwaigenbaum et al., 2009).

Importance: Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with different genetic etiologies. Prospective examination of familial-risk infants informs understanding of developmental trajectories preceding ASD diagnosis, potentially improving early detection. Objective: To compare outcomes and trajectories associated with varying familial risk for ASD across the first 3 years of life. Design, Setting, and Participants: This longitudinal, prospective cohort study used data from 11 sites in the Baby Siblings Research Consortium database. Data were collected between 2003 and 2015. Infants who were younger siblings of children with ASD were followed up for 3 years. Analyses were conducted in April 2018. Of the initial 1008 infants from the database, 573 were removed owing to missing necessary data, diagnostic discrepancies, or only having 1 older sibling. Exposures: Number of siblings with ASD. Main Outcomes and Measures: Outcomes included ASD symptoms, cognitive abilities, and adaptive skills. Diagnosis (ASD or no ASD) was given at 36-month outcome. The no-ASD group was classified as atypical (developmental delays and/or social-communication concerns) or typical for some analyses. Generalized linear mixed models examined developmental trajectories by ASD outcome and familial-risk group. Results: In the 435 analyzed participants (age range at outcome, 32-43 months; 246 male [57%]), 355 (82%) were from single-incidence families (1 sibling with ASD and ≥1 sibling without ASD) and 80 (18%) were from multiplex families (≥2 siblings with ASD). There were no significant group differences in major demographics. Children from multiplex families were more likely than those from single-incidence families to be classified as having ASD (29 of 80 [36%] vs 57 of 355 [16%]; 95% CI, 9%-31%; P

Cohen's (Educ Psychol Meth. 1960;23:37-40) kappa statistic has been criticized recently for providing low chance-corrected coefficients (

The preponderance of causal influence on total population attributable risk for autism is polygenic in nature, but it is not known how such liability engenders the development of the syndrome. In 348 epidemiologically ascertained toddler twins, we explored associations between autistic traits and three robust, highly heritable predictors of familial autism recurrence: variation in attention, motor coordination, and parental autistic trait burden. We observed that these predictors—despite collectively accounting for over one third of variance in clinical recurrence—are genetically independent in early childhood, and jointly account for a comparable share of inherited influence on early reciprocal social behavior in the general population. Thus, combinations of what are otherwise discrete, inherited behavioral liabilities—some not specific to autism—appear to jointly mediate common genetic risk for autism. Linking genetic variants and neural signatures to these independent traits prior to the onset of the development of autism will enhance understanding of mechanisms of causation in familial autistic syndromes. Moreover, ongoing biomarker discovery efforts will benefit from controlling for the effects of these common liabilities, which aggregate in individuals with autism but are also continuously distributed in “controls”. Finally, early inherited liabilities that participate in the early ontogeny of autistic syndromes represent parsimonious intervention targets for polygenic forms of the condition, and represent candidate trans-diagnostic endophenotypes of potential relevance to a diversity of neuropsychiatric syndromes.

Social-communication skills emerge within the context of rich social interactions, facilitated by an infant's capacity to attend to people and objects in the environment. Disruption in this early neurobehavioral process may decrease the frequency and quality of social interactions and learning opportunities, potentially leading to downstream deleterious effects on social development. This study examined early attention in infant siblings of children with autism spectrum disorder (ASD) who are at risk for social and communication delays. Visual and auditory attention was mapped from age 1 week to 5 months in infants at familial risk for ASD (high risk;N= 41) and low-risk typically developing infants (low risk;N= 39). At 12 months, a subset of participants (N= 40) was administered assessments of social communication and nonverbal cognitive skills. Results revealed that high-risk infants performed lower on attention tasks at 2 and 3 months of age compared to low-risk infants. A significant association between overall attention at 3 months and developmental outcome at 12 months was observed for both groups. These results provide evidence for early vulnerabilities in visual attention for infants at risk for ASD during a period of important neurodevelopmental transition (between 2 and 3 months) when attention has significant implications for social communication and cognitive development.

Background Despite widespread recommendations for early surveillance of risk for autism spectrum disorder (ASD), no research to date has shown that early surveillance leads to better clinical outcomes. Preliminary research has suggested that children with ASD ascertained via prospective follow-up have better outcomes than those ascertained via community referral. Because prospective studies include early surveillance, by comparing outcomes of children with ASD across ascertainment strategies, we may gain insight into the effects of early surveillance relative to its absence. Methods A systematic review was conducted to identify studies reporting outcomes of 24- to 36-month-olds with ASD ascertained via prospective follow-up, community referral, or universal screening. A meta-analysis using a random effects model was used to calculate overall effect size estimates for developmental level and symptom severity across ascertainment cohorts. Results Eleven prospective, ten community referral, and eight universal screening studies were identified, reporting on 1,658 toddlers with ASD. We found no differences in outcomes between community referral and universal screening studies. Relative to both, prospective studies reported significantly higher developmental levels and lower symptom severities. Conclusions Outcomes of young children with ASD ascertained via prospective follow-up are better than those of children with ASD recruited via community referral or universal screening. Although we discuss why sampling bias is not likely the driving force behind these findings, we cannot rule out the possibility that sampling bias contributes to the observed differences; future studies should probe the effects of sociodemographic variables on clinical outcomes as a function of ascertainment strategy. This limitation notwithstanding, our results raise the possibility that prospective follow-up may confer a 'surveillance effect' that contributes to improved developmental and diagnostic outcomes in children with ASD. Future research should test this hypothesis and determine the specific mechanism by which surveillance may improve outcomes.

Although a large body of research has identified discrete neuroanatomical regions involved in social cognition and behavior (the "social brain"), the existing findings are based largely on studies of specific brain structures defined within the context of particular tasks or for specific types of social behavior. The objective of the current work was to view these regions as nodes of a larger collective network and to quantitatively characterize both the topology of that network and the relative criticality of its many nodes. Large-scale data mining was performed to generate seed regions of the social brain. High-quality diffusion MRI data of typical adults were used to map anatomical networks of the social brain. Network topology and nodal centrality were analyzed using graph theory. The structural social brain network demonstrates a high degree of global functional integration with strong local segregation. Bilateral dorsomedial prefrontal cortices and amygdala play the most central roles in the network. Strong probabilistic evidence supports modular divisions of the social brain into subnetworks bearing good resemblance to functionally classified clusters. The present network-driven approach quantifies the structural topology of the social brain as a whole. This work can serve as a critical benchmark against which to compare (1) developmental change in social brain topology over time (from infancy through adolescence and beyond) and (2) atypical network topologies that may be a sign or symptom of disorder (as in conditions such as autism, Williams syndrome, schizophrenia, and others).

The Social Attribution Task, Multiple Choice is introduced as a measure of implicit social cognitive ability in children, addressing a key challenge in quantification of social cognitive function in autism spectrum disorder, whereby individuals can often be successful in explicit social scenarios, despite marked social adaptive deficits. The 19-question Social Attribution Task, Multiple Choice, which presents ambiguous stimuli meant to elicit social attribution, was administered to children with autism spectrum disorder ( N = 23) and to age-matched and verbal IQ–matched typically developing children ( N = 57). The Social Attribution Task, Multiple Choice performance differed between autism spectrum disorder and typically developing groups, with typically developing children performing significantly better than children with autism spectrum disorder. The Social Attribution Task, Multiple Choice scores were positively correlated with age ( r = 0.474) while being independent from verbal IQ ( r = 0.236). The Social Attribution Task, Multiple Choice was strongly correlated with Vineland Adaptive Behavior Scales Communication ( r = 0.464) and Socialization ( r = 0.482) scores, but not with Daily Living Skills scores ( r = 0.116), suggesting that the implicit social cognitive ability underlying performance on the Social Attribution Task, Multiple Choice is associated with real-life social adaptive function.

Within the context of early infant–caregiver interaction, we review a series of pivotal transitions that occur within the first 6 months of typical infancy, with emphasis on behavior and brain mechanisms involved in preferential orientation towards, and interaction with, other people. Our goal in reviewing these transitions is to better understand how they may lay a necessary and/or sufficient groundwork for subsequent phases of development, and also to understand how the breakdown thereof, when development is atypical and those transitions become derailed, may instead yield disability. We review these developmental processes in light of recent studies documenting disruptions to early-emerging brain and behavior mechanisms in infants later diagnosed with autism spectrum disorder, shedding light on the brain–behavior pathogenesis of autism.

Preferential attention to biological motion is an early-emerging mechanism of adaptive action that plays a critical role in social development. The present study provides a comprehensive longitudinal mapping of developmental change in preferential attention to biological motion in 116 infants at 7 longitudinal time points. Tested repeatedly from 2 until 24 months of age, results reveal that preferential attention to biological motion changes considerably during the first months of life. Previously reported preferences in both neonates and older infants are absent in the second month but do reemerge by month 3 and become increasingly pronounced during the subsequent two years. These results highlight the second month of life as a potentially critical transition period in social visual engagement.

Autism spectrum disorder (autism) is a common and heterogeneous neurodevelopmental disorder of genetic origins defined by challenges in social communication and clusters of restrictive and repetitive behaviors. An emerging hypothesis of autism pathogenesis describes symptoms as the results from deviations from normative developmental processes. In this account, symptoms represent the outcome of variable instantiation of genetic liabilities – in terms of dosage and timing – leading to disruptions in the developmental trajectories of foundational social adaptive skills. Given the fast pace of change in behavior and brain development in the first two years of life, we pose that the currently prevalent cross-sectional experimental designs are ill-suited to capture changes from normative benchmarks that might be small at any data point but which inexorably and cumulatively increase divergences in developmental trajectories that ultimately culminate in the unmistakable cluster of atypical behaviors we now call autism. We argue that only densely-sampled longitudinal experimental designs can capture the underlying dynamic processes moving the individual child’s development towards or away from normative benchmarks. We illustrate this phenomenon via a detailed example in which a cross-sectional comparison between a clinical and a control cohort failed to find differences, which could only be detected by ascertaining that the developmental trajectory of one cohort was moving upwards while the other was moving downwards, with the developmental lines intersecting at the cross-sectional data point. We conclude by magnifying Karmiloff-Smith’s assertion, oft-quoted but seldom followed, that “development itself is the key to understanding developmental disorders” [1].

This chapter discusses the case of language acquisition in Autism Spectrum Disorders (ASD). Autism is a developmental disability with a neurobiological basis that is characterized by a triad of symptoms including difficulties in social interaction, difficulties in communication, and a pattern of restricted, repetitive, and stereotyped interests and activities. Between 12 and 24 months of age, children who were later diagnosed with ASD have been found to be less responsive and to pay less attention to people in their environment and to show a lower frequency of looking at objects shown to them by others. Parents of children with ASD often report that the second year of life was the time they became seriously concerned about their affected child's development. The language development of children with ASD seems to share with that of other disorders a general pattern of dissociations among the development of usually integrated communicative capacities.

Two hypotheses, gaze aversion and gaze indifference, are commonly cited to explain a diagnostic hallmark of autism: reduced attention to others' eyes. The two posit different areas of atypical brain function, different pathogenic models of disability, and different possible treatments. Evidence for and against each hypothesis is mixed but has thus far focused on older children and adults. The authors evaluated both mechanistic hypotheses in two sets of experiments at the time of initial diagnosis.Eye-tracking data were collected in 86 2-year-olds: 26 with autism, tested at initial diagnosis; 38 matched typically developing children; and 22 matched developmentally delayed children. In two experiments, the authors measured response to direct and implicit cueing to look at the eyes.When directly cued to look at the eyes, 2-year-olds with autism did not look away faster than did typically developing children; their latency varied neither categorically nor dimensionally by degree of eye cueing. Moreover, direct cueing had a stronger sustained effect on their amount of eye-looking than on that of typically developing children. When presented with implicit social cues for eye-looking, 2-year-olds with autism neither shifted their gaze away nor more subtly averted their gaze to peripheral locations.The results falsify the gaze aversion hypothesis; instead, at the time of initial diagnosis, diminished eye-looking in autism is consistent with passive insensitivity to the social signals in others' eyes.

Monozygotic twins show high concordance in eye- and mouth-looking, and this behaviour is markedly reduced in toddlers with autism spectrum disorder. An early and critical aspect of infant development is visual exploration of socially relevant stimuli such as faces and biological motion. Warren Jones and colleagues present an eye-tracking study of both typically developing children and those with autism to show that several aspects of visual social engagement, including propensity to look at facial features, as well as spatial and temporal dynamics of gaze, are highly heritable. Some measures of social visual engagement that are most highly heritable, such as attention to faces, are also those that most clearly distinguish typically developing children from those with autism. The authors propose social visual engagement as a neurodevelopmental endophenotype that is not just relevant for autism, but also broader population-wide variation. Long before infants reach, crawl or walk, they explore the world by looking: they look to learn and to engage1, giving preferential attention to social stimuli, including faces2, face-like stimuli3 and biological motion4. This capacity—social visual engagement—shapes typical infant development from birth5 and is pathognomonically impaired in children affected by autism6. Here we show that variation in viewing of social scenes, including levels of preferential attention and the timing, direction and targeting of individual eye movements, is strongly influenced by genetic factors, with effects directly traceable to the active seeking of social information7. In a series of eye-tracking experiments conducted with 338 toddlers, including 166 epidemiologically ascertained twins (enrolled by representative sampling from the general population), 88 non-twins with autism and 84 singleton controls, we find high monozygotic twin–twin concordance (0.91) and relatively low dizygotic concordance (0.35). Moreover, the characteristics that are the most highly heritable, preferential attention to eye and mouth regions of the face, are also those that are differentially decreased in children with autism (χ2 = 64.03, P

Presently there is limited research to suggest efficacious interventions for infants at-risk for autism. Pivotal response treatment (PRT) has empirical support for use with preschool children with autism, but there are no reports in the literature utilizing this approach with infants. In the current study, a developmental adaptation of PRT was piloted via a brief parent training model with three infants at-risk for autism. Utilizing a multiple baseline design, the data suggest that the introduction of PRT resulted in increases in the infants’ frequency of functional communication and parents’ fidelity of implementation of PRT procedures. Results provide preliminary support for the feasibility and utility of PRT for very young children at-risk for autism.

Objective To examine patterns of variability in social visual engagement and their relationship to standardized measures of social disability in a heterogeneous sample of school-aged children with autism spectrum disorders (ASD). Method Eye-tracking measures of visual fixation during free-viewing of dynamic social scenes were obtained for 109 children with ASD (mean age, 10.2 ± 3.2 years), 37 of whom were matched with 26 typically-developing (TD) children (mean age, 9.5 ± 2.2 years) on gender, age, and IQ. The smaller subset allowed between-group comparisons, whereas the larger group was used for within-group examinations of ASD heterogeneity. Results Between-group comparisons revealed significantly attenuated orientation to socially salient aspects of the scenes, with the largest effect size (Cohen's d = 1.5) obtained for reduced fixation on faces. Within-group analyses revealed a robust association between higher fixation on the inanimate environment and greater social disability. However, the associations between fixation on the eyes and mouth and social adaptation varied greatly, even reversing, when comparing different cognitive profile subgroups. Conclusions Although patterns of social visual engagement with naturalistic social stimuli are profoundly altered in children with ASD, the social adaptivity of these behaviors varies for different groups of children. This variation likely represents different patterns of adaptation and maladaptation that should be traced longitudinally to the first years of life, before complex interactions between early predispositions and compensatory learning take place. We propose that variability in these early mechanisms of socialization may serve as proximal behavioral manifestations of genetic vulnerabilities.

Spontaneous eye blinking serves a critical physiological function, but it also interrupts incoming visual information. This tradeoff suggests that the inhibition of eye blinks might constitute an adaptive reaction to minimize the loss of visual information, particularly information that a viewer perceives to be important. To test this hypothesis, we examined whether the timing of blink inhibition, during natural viewing, is modulated between as well as within tasks, and also whether the timing of blink inhibition varies as a function of viewer engagement and stimulus event type. While viewing video scenes, we measured the timing of blinks and blink inhibition, as well as visual scanning, in a group of typical two-year-olds, and in a group of two-year-olds known for attenuated reactivity to affective stimuli: toddlers with Autism Spectrum Disorders (ASD). Although both groups dynamically adjusted the timing of their blink inhibition at levels greater than expected by chance, they inhibited their blinking and shifted visual fixation differentially with respect to salient onscreen events. Moreover, typical toddlers inhibited their blinking earlier than toddlers with ASD, indicating active anticipation of the unfolding of those events. These findings indicate that measures of blink inhibition can serve as temporally precise markers of perceived stimulus salience and are useful quantifiers of atypical processing of social affective signals in toddlers with ASD.

The social motivation hypothesis posits that aberrant neural response to human faces in autism is attributable to atypical social development and consequently reduced exposure to faces. The specificity of deficits in neural specialization remains unclear, and alternative theories suggest generalized processing difficulties. The current study contrasted neural specialization for social information versus nonsocial information in 36 individuals with autism and 18 typically developing individuals matched for age, race, sex, handedness, and cognitive ability. Event-related potentials elicited by faces, inverted faces, houses, letters, and pseudoletters were recorded. Groups were compared on an electrophysiological marker of neural specialization (N170), as well as behavioral performance on standardized measures of face recognition and word reading/decoding. Consistent with prior results, individuals with autism displayed slowed face processing and decreased sensitivity to face inversion; however, they showed comparable brain responses to letters, which were associated with behavioral performance in both groups. Results suggest that individuals with autism display atypical neural specialization for social information but intact specialization for nonsocial information. Findings concord with the notion of specific dysfunction in social brain systems rather than nonspecific information-processing difficulties in autism.

Individuals with ASD have significant impairments in adaptive skills, particularly adaptive socialization skills. The present study examined the extent to which 20 items from the Vineland Adaptive Behavior Scales—Socialization Domain differentiated between ASD and developmentally delayed (DD) groups. Participants included 108 toddlers with ASD or DD under the age of 3 years. Nine of the 20 items significantly distinguished the groups. The ASD group demonstrated significantly weaker socialization skills, including deficits in basic social behaviors. The results support the notion that (a) socialization deficits in ASD impact foundational social skills typically emerging in the first year of life, (b) examination of specific social adaptive behaviors contribute to differential diagnosis, and (c) foundational social behaviors should be targeted for intervention.

Functional magnetic resonance imaging of brain responses to biological motion in children with autism spectrum disorder (ASD), unaffected siblings (US) of children with ASD, and typically developing (TD) children has revealed three types of neural signatures: ( i ) state activity, related to the state of having ASD that characterizes the nature of disruption in brain circuitry; ( ii ) trait activity, reflecting shared areas of dysfunction in US and children with ASD, thereby providing a promising neuroendophenotype to facilitate efforts to bridge genomic complexity and disorder heterogeneity; and ( iii ) compensatory activity, unique to US, suggesting a neural system–level mechanism by which US might compensate for an increased genetic risk for developing ASD. The distinct brain responses to biological motion exhibited by TD children and US are striking given the identical behavioral profile of these two groups. These findings offer far-reaching implications for our understanding of the neural systems underlying autism.

Using fMRI we investigated the neural basis of audio-visual processing of speech and non-speech stimuli using physically similar auditory stimuli (speech and sinusoidal tones) and visual stimuli (animated circles and ellipses). Relative to uni-modal stimuli, the different multi-modal stimuli showed increased activation in largely non-overlapping areas. Ellipse-Speech, which most resembles naturalistic audio-visual speech, showed higher activation in the right inferior frontal gyrus, fusiform gyri, left posterior superior temporal sulcus, and lateral occipital cortex. Circle-Tone, an arbitrary audio-visual pairing with no speech association, activated middle temporal gyri and lateral occipital cortex. Circle-Speech showed activation in lateral occipital cortex, and Ellipse-Tone did not show increased activation relative to uni-modal stimuli. Further analysis revealed that middle temporal regions, although identified as multi-modal only in the Circle-Tone condition, were more strongly active to Ellipse-Speech or Circle-Speech, but regions that were identified as multi-modal for Ellipse-Speech were always strongest for Ellipse-Speech. Our results suggest that combinations of auditory and visual stimuli may together be processed by different cortical networks, depending on the extent to which multi-modal speech or non-speech percepts are evoked.

A randomized controlled design was employed to evaluate a social skills intervention for children with pervasive developmental disorders. Aims included evaluating the acceptability of the program and gathering preliminary evidence on efficacy. Forty-four children, ages 8-11 years, were randomly assigned to treatment or wait list. Treatment consisted of a 16-week group intervention designed to teach appropriate social behavior. Between group comparisons showed that children in treatment were rated as improved on the primary outcome measure, (unblinded parent report), but not on the secondary outcome measure, a parent questionnaire. Parents reported a high level of satisfaction with the intervention. The study supports the feasibility of this intervention to families and highlights challenges for future research in social skills intervention.

El futuro de la medicina de los trastornos del neurodesarrollo posee el potencial de situar a la neurologia infantil en la vanguardia de un amplio esfuerzo de la sanidad publica con miras a optimizar los resultados del proceso de neurodesarrollo en los ninos nacidos con diversas cargas geneticas, pre y perinatales y ambientales, de prevalencia elevada, que ponen en riesgo el desarrollo temprano de su cerebro y acaban provocando incapacidad durante toda la vida. Construida sobre los avances de la neurociencia del desarrollo social y de la ciencia traslacional, esa transformacion ya esta teniendo lugar en el ambito de un trastorno del neurodesarrollo emblematico como es el autismo. Aprovechando la neuroplasticidad temprana y la cuantificacion de las trayectorias del desarrollo comunicativo y social, estan viendo la luz nuevas tecnologias de diagnostico con alta capacidad, rentables y viables para administrar potentes tratamientos en el ambito comunitario, en perfecta integracion entre redes de atencion sanitaria que en el pasado estaban fragmentadas. Estas soluciones son susceptibles de utilizarse para atender a otros colectivos de recien nacidos y ninos con un riesgo acusado de autismo y retraso de la comunicacion, como los prematuros extremos o los ninos con cardiopatias congenitas. La idea motriz de este futuro ambicioso es que la sanidad publica se concentre en la promocion de las condiciones optimas para el desarrollo inicial del cerebro, de modo similar a las actuales campanas de fomento de la atencion prenatal, la nutricion o la vacunacion.

Anxiety is a common co-occurring problem among young people with autism spectrum disorders (ASD). Characterized by deficits in social interaction, communication problems, and stereotyped behavior and restricted interests, this group of disorders is more prevalent than previously realized. When present, anxiety may compound the social deficits of young people with ASD. Given the additional disability and common co-occurrence of anxiety in ASD, we developed a manual-based cognitive-behavioral treatment program to target anxiety symptoms as well as social skill deficits in adolescents with ASD [Multimodal Anxiety and Social Skills Intervention: MASSI]. In this paper, we describe the foundation, content, and development of MASSI. We also summarize data on treatment feasibility based on a pilot study that implemented the intervention.

Typically developing human infants preferentially attend to biological motion within the first days of life 1 . This ability is highly conserved across species 2,3 and is believed to be critical for filial attachment and for detection of predators 4 . The neural underpinnings of biological motion perception are overlapping with brain regions involved in perception of basic social signals such as facial expression and gaze direction 5 , and preferential attention to biological motion is seen as a precursor to the capacity for attributing intentions to others 6 . However, in a serendipitous observation 7 , we recently found that an infant with autism failed to recognize point-light displays of biological motion, but was instead highly sensitive to the presence of a non-social, physical contingency that occurred within the stimuli by chance. This observation raised the possibility that perception of biological motion may be altered in children with autism from a very early age,withcascading consequencesforbothsocialdevelopment and the lifelong impairments in social interaction that are a hallmark of autism spectrum disorders 8 . Here we show that two-year-olds withautismfailtoorienttowardspoint-lightdisplaysofbiological motion, and their viewing behaviour when watching these pointlight displays can be explained instead as a response to non-social, physicalcontingencies—physicalcontingenciesthataredisregarded by control children. This observation has far-reaching implications for understanding the altered neurodevelopmental trajectory of brain specialization in autism 9 . Preferentialattentiontobiologicalmotionisafundamentalmechanism facilitating adaptive interaction with other living beings. It is present throughout a wide range of species, from humans 10,11 to monkeys 12 to birds 13 . Developmentally, it can be found in newly hatched chicks 14 and in human infants as young as 2days old 1 . Recognitionofbiologicalmotionremainsintactinavarietyofforms, from degraded presentations, through varying states of occlusion, and in cases when information-bearing components are reduced to

This article is a commentary on 'Fetal testosterone and autistic traits' (Auyeung et al., 2009).

The purpose of this study was to investigate the concurrent validity of subtests on the Comprehensive Assessment of Spoken Language (CASL) by comparing them with the assessment of communication and social skills on the Vineland Adaptive Behavior Scales ( Vineland). The participants were 35 children and adolescents with higher functioning autism spectrum disorders (ASD) who had received both the CASL and the Vineland. Results of the study suggest that the Pragmatic Judgment and Inferences subtests of the CASL appeared to document the difficulties that individuals with ASD had in adaptive use of language for communication.