Access to Part C, Early Intervention for children younger than 4 years evaluated for autism spectrum disorder.

LAY ABSTRACT: Health disparities are defined as preventable differences in the opportunities to achieve optimal health outcomes experienced by marginalized and underrepresented communities. For families with autistic children, health disparities limit accessing early intervention services-which have been found to improve quality of life and other outcomes. One specific early intervention service in the United States is Individuals with Disabilities Education Act, Part C Early Intervention programs, which are federally funded interventions for children birth-to-three with developmental delays. This study adds to this topic by examining which factors impact accessing Part C, Early Intervention services for children who were evaluated for autism. Results showed that only half of the sample received these services despite there being concerns about development for all children. In addition, results showed that those who identified as Black had decreased odds of having accessed Part C, Early Intervention compared to those who identified as White. These results suggest that there are disparities when it comes to accessing important early intervention services that may be negatively impacting the Black autistic community.

A biomarker-based solution for the limited access to early diagnosis and assessment of autism.

With the upsurge of community uptake in population-based early screening for autism, the main obstacle to increasing access to early treatment and intervention services is the extremely limited access to high quality diagnosis, specifically the shortage of expert clinicians. Diagnostic evaluation models deployed by academic centers of excellence, which typically require the investment of 6-10 hours by specialized multidisciplinary teams, is not a viable solution to the vast needs of communities, resulting in parents' "diagnostic odysseys" and delays, often of several years, for treatment, interventions and supports. Biomarker-based objective procedures for early diagnosis and assessment of autism are now available, clinically validated, and cleared for broad implementation by the US Food and Drug Administration (FDA). They are intended to increase access while maintaining high quality. Such solutions, however, will require change in entrenched models of diagnostic care, and aggressive prioritization of the needs of the community at large. If these innovations are successful, the number of children diagnosed in the first three years of life will double or triple. This will, in turn, require much greater investments in resources for treatment, including massive workforce training of providers capable of delivering community-viable caregiver-mediated interventions, and of early educators capable of serving autistic children in therapeutic inclusive preschool settings.

Con el aumento de la aceptación comunitaria de la detección temprana del autismo basada en la población, el principal obstáculo para aumentar el acceso al tratamiento temprano y a los servicios de intervención es el acceso extremadamente limitado a un diagnóstico de alta calidad, específicamente la escasez de médicos expertos. Los modelos de evaluación diagnóstica implementados por centros académicos de excelencia, que normalmente requieren la inversión de 6 a 10 horas por parte de equipos multidisciplinarios especializados, no son una solución viable para las vastas necesidades de las comunidades, lo que resulta en "odiseas diagnósticas" y retrasos, a menudo de gran importancia, para los padres varios años, para tratamiento, intervenciones y apoyos. Los procedimientos objetivos basados en biomarcadores para el diagnóstico temprano y la evaluación del autismo ya están disponibles, clínicamente validados y aprobados para su amplia implementación por la Administración de Alimentos y Medicamentos de EE. UU. (FDA). Su objetivo es aumentar el acceso manteniendo una alta calidad. Sin embargo, tales soluciones requerirán cambios en los modelos arraigados de atención de diagnóstico y una priorización agresiva de las necesidades de la comunidad en general. Si estas innovaciones tienen éxito, el número de niños diagnosticados en los primeros tres años de vida se duplicará o triplicará. Esto, a su vez, requerirá inversiones mucho mayores en recursos para el tratamiento, incluida la capacitación masiva de la fuerza laboral de proveedores capaces de brindar intervenciones comunitarias viables mediadas por cuidadores, y de educadores tempranos capaces de atender a niños autistas en entornos preescolares terapéuticos inclusivos.

Eye-Tracking-Based Measurement of Social Visual Engagement Compared With Expert Clinical Diagnosis of Autism.

Importance: In the US, children with signs of autism often experience more than 1 year of delay before diagnosis and often experience longer delays if they are from racially, ethnically, or economically disadvantaged backgrounds. Most diagnoses are also received without use of standardized diagnostic instruments. To aid in early autism diagnosis, eye-tracking measurement of social visual engagement has shown potential as a performance-based biomarker. Objective: To evaluate the performance of eye-tracking measurement of social visual engagement (index test) relative to expert clinical diagnosis in young children referred to specialty autism clinics. Design, Setting, and Participants: In this study of 16- to 30-month-old children enrolled at 6 US specialty centers from April 2018 through May 2019, staff blind to clinical diagnoses used automated devices to measure eye-tracking-based social visual engagement. Expert clinical diagnoses were made using best practice standardized protocols by specialists blind to index test results. This study was completed in a 1-day protocol for each participant. Main Outcomes and Measures: Primary outcome measures were test sensitivity and specificity relative to expert clinical diagnosis. Secondary outcome measures were test correlations with expert clinical assessments of social disability, verbal ability, and nonverbal cognitive ability. Results: Eye-tracking measurement of social visual engagement was successful in 475 (95.2%) of the 499 enrolled children (mean [SD] age, 24.1 [4.4] months; 38 [8.0%] were Asian; 37 [7.8%], Black; 352 [74.1%], White; 44 [9.3%], other; and 68 [14.3%], Hispanic). By expert clinical diagnosis, 221 children (46.5%) had autism and 254 (53.5%) did not. In all children, measurement of social visual engagement had sensitivity of 71.0% (95% CI, 64.7% to 76.6%) and specificity of 80.7% (95% CI, 75.4% to 85.1%). In the subgroup of 335 children whose autism diagnosis was certain, sensitivity was 78.0% (95% CI, 70.7% to 83.9%) and specificity was 85.4% (95% CI, 79.5% to 89.8%). Eye-tracking test results correlated with expert clinical assessments of individual levels of social disability (r = -0.75 [95% CI, -0.79 to -0.71]), verbal ability (r = 0.65 [95% CI, 0.59 to 0.70]), and nonverbal cognitive ability (r = 0.65 [95% CI, 0.59 to 0.70]). Conclusions and Relevance: In 16- to 30-month-old children referred to specialty clinics, eye-tracking-based measurement of social visual engagement was predictive of autism diagnoses by clinical experts. Further evaluation of this test's role in early diagnosis and assessment of autism in routine specialty clinic practice is warranted. Trial Registration: ClinicalTrials.gov Identifier: NCT03469986.

Development and Replication of Objective Measurements of Social Visual Engagement to Aid in Early Diagnosis and Assessment of Autism.

Importance: Autism spectrum disorder is a common and early-emerging neurodevelopmental condition. While 80% of parents report having had concerns for their child's development before age 2 years, many children are not diagnosed until ages 4 to 5 years or later. Objective: To develop an objective performance-based tool to aid in early diagnosis and assessment of autism in children younger than 3 years. Design, Setting, and Participants: In 2 prospective, consecutively enrolled, broad-spectrum, double-blind studies, we developed an objective eye-tracking-based index test for children aged 16 to 30 months, compared its performance with best-practice reference standard diagnosis of autism (discovery study), and then replicated findings in an independent sample (replication study). Discovery and replication studies were conducted in specialty centers for autism diagnosis and treatment. Reference standard diagnoses were made using best-practice standardized protocols by specialists blind to eye-tracking results. Eye-tracking tests were administered by staff blind to clinical results. Children were enrolled from April 27, 2013, until September 26, 2017. Data were analyzed from March 28, 2018, to January 3, 2019. Main Outcomes and Measures: Prespecified primary end points were the sensitivity and specificity of the eye-tracking-based index test compared with the reference standard. Prespecified secondary end points measured convergent validity between eye-tracking-based indices and reference standard assessments of social disability, verbal ability, and nonverbal ability. Results: Data were collected from 1089 children: 719 children (mean [SD] age, 22.4 [3.6] months) in the discovery study, and 370 children (mean [SD] age, 25.4 [6.0] months) in the replication study. In discovery, 224 (31.2%) were female and 495 (68.8%) male; in replication, 120 (32.4%) were female and 250 (67.6%) male. Based on reference standard expert clinical diagnosis, there were 386 participants (53.7%) with nonautism diagnoses and 333 (46.3%) with autism diagnoses in discovery, and 184 participants (49.7%) with nonautism diagnoses and 186 (50.3%) with autism diagnoses in replication. In the discovery study, the area under the receiver operating characteristic curve was 0.90 (95% CI, 0.88-0.92), sensitivity was 81.9% (95% CI, 77.3%-85.7%), and specificity was 89.9% (95% CI, 86.4%-92.5%). In the replication study, the area under the receiver operating characteristic curve was 0.89 (95% CI, 0.86-0.93), sensitivity was 80.6% (95% CI, 74.1%-85.7%), and specificity was 82.3% (95% CI, 76.1%-87.2%). Eye-tracking test results correlated with expert clinical assessments of children's individual levels of ability, explaining 68.6% (95% CI, 58.3%-78.6%), 63.4% (95% CI, 47.9%-79.2%), and 49.0% (95% CI, 33.8%-65.4%) of variance in reference standard assessments of social disability, verbal ability, and nonverbal cognitive ability, respectively. Conclusions and Relevance: In two diagnostic studies of children younger than 3 years, objective eye-tracking-based measurements of social visual engagement quantified diagnostic status as well as individual levels of social disability, verbal ability, and nonverbal ability in autism. These findings suggest that objective measurements of social visual engagement can be used to aid in autism diagnosis and assessment.

Prospects for Leveling the Playing Field for Black Children With Autism.

Among the many race-based health disparities that have persistently plagued the US population,1 the disproportionate burden of adverse neurodevelopmental outcomes to Black children affected by autism spectrum disorder (ASD) is particularly devastating given its major lifelong consequences. Recently, in 3 successive reports from the Autism and Developmental Disabilities Monitoring (ADDM) program of the US Centers for Disease Control and Prevention (CDC) (birth cohort years 2014, 2016, and 2018), we and our collaborators reported that although the prevalence of community-diagnosed ASD had equalized for Black and non-Hispanic White (NHW) children in the United States, there has persisted a pronounced racial disparity in the proportion of ASD-affected children with comorbid intellectual disability (ID), on the order of 50% for Black children with ASD vs 20% for White children with ASD.2 Here, we provide data to support the following: much earlier diagnosis is possible; early diagnosis alone is not likely to close the ID comorbidity disparity; and judicious efforts over care as usual are necessary to ensure that Black children have access to timely implementation of developmental therapy, for which we observed promising associations with improved cognitive and adaptive outcomes in our sample.

Translating advances in developmental social neuroscience into greater access to early diagnosis in autism spectrum disorder / Repercusión de los avances en la neurociencia social del desarrollo en un mayor acceso al diagnóstico temprano en el trastorno del espectro autista

Abstract Early identification and diagnosis of autism spectrum disorder (ASD) is necessary to promote access to early treatment, a critical factor in optimizing children's lifetime outcomes. And yet, diagno sis is often late, delaying interventions to a time in which symptoms have aggravated and communication skills already show impairing differences. This review illustrates progress in developmental social neuroscience that shows promise in generating novel tools for objective and cost-effective early diagnosis of ASD. We focus on research of social visual engagement, which is the way infants and toddlers look at and learn from their social environment. Moment-by-moment quantification of social visual engagement is yielding measures that are begin ning to approximate best-practice procedures used by experienced clinicians in the assessment of young children. This progress and potential solutions have public health import ance because experienced clinicians are limited in number, and specialized clinical assessment services tend to be lengthy, costly, and plagued by extended wait time, all of which contributing to limited access, particularly in the case of low-resource families. The research reviewed here illustrates a wider effort to advance biomarker-based measurements intended to develop better and more efficient tools and procedures for screening, diagnosing and monitoring treatment response in children with ASD. The advent of such tools could increase access to early diagnostic services and promote efficiencies in early treatment delivery, with the ultimate goal of ensuring that children with ASD are afforded the services they need to thrive.

Resumen La identificación y el diagnóstico temprano del trastorno del espectro autista (TEA) son necesarios para promover el acceso al tratamiento temprano, un factor crítico para optimizar los resultados de por vida de los niños. Y, sin embargo, el diagnóstico suele llegar tarde, lo que retrasa las intervenciones hasta un momento en el que los síntomas se han agravado y las habilidades de comunicación ya muestran diferencias perjudiciales. Esta revisión ilustra el progreso en la neurociencia social del desarrollo que se muestra prometedora en la generación de herramientas novedosas para el diagnóstico temprano objetivo y rentable de los TEA. Hacemos énfasis en la investigación del compromiso visual social, que es la forma en que los bebés y los niños pequeños miran y aprenden de su entorno social. La cuantificación momento a momento del compromiso visual social está gene rando medidas que comienzan a aproximarse a los procedimientos de mejores prácticas utilizados por médicos experimentados en la evaluación de niños pequeños. Este progreso y las posibles soluciones tienen importancia para la salud pública porque los médicos con experiencia son limitados en número y los servicios de evaluación clínica especializados tienden a ser largos, costosos y están plagados de tiempo de espera prolongado, todo lo cual contribuye a un acceso limitado, particularmente en el caso de familias con bajos recursos. La investigación revisada aquí ilustra un esfuerzo más amplio para avanzar en las mediciones basadas en biomarcadores desti nadas a desarrollar herramientas y procedimientos mejores y más eficientes para la detección, el diagnóstico y el seguimiento de la respuesta al tratamiento en niños con TEA. El advenimiento de tales herramientas podría aumentar el acceso a los servicios de diagnóstico temprano y promover la eficiencia en la entrega del trata miento temprano, con el objetivo final de garantizar que los niños con TEA reciban los servicios que necesitan para prosperar.

A Comparison of the Clinical Presentation of Preterm Birth and Autism Spectrum Disorder: Commonalities and Distinctions in Children Under 3.

Premature infants and infants later diagnosed with autism spectrum disorder (ASD) share many commonalities in clinical presentations. However, prematurity and ASD also have differences in clinical presentation. These overlapping phenotypes can lead to misdiagnoses of ASD or missing a diagnosis of ASD in preterm infants. We document these commonalities and differences in various developmental domains with the hope of aiding in the accurate early detection of ASD and timely intervention implementation in children born premature. Given the degree of similarities in presentation, evidence-based interventions designed specifically for preterm toddlers or toddlers with ASD may ultimately aid both populations.

Translating advances in developmental social neuroscience into greater access to early diagnosis in autism spectrum disorder.

Early identification and diagnosis of autism spectrum disorder (ASD) is necessary to promote access to early treatment, a critical factor in optimizing children's lifetime outcomes. And yet, diagnosis is often late, delaying interventions to a time in which symptoms have aggravated and communication skills already show impairing differences. This review illustrates progress in developmental social neuroscience that shows promise in generating novel tools for objective and cost-effective early diagnosis of ASD. We focus on research of social visual engagement, which is the way infants and toddlers look at and learn from their social environment. Moment-by-moment quantification of social visual engagement is yielding measures that are beginning to approximate best-practice procedures used by experienced clinicians in the assessment of young children. This progress and potential solutions have public health import ance because experienced clinicians are limited in number, and specialized clinical assessment services tend to be lengthy, costly, and plagued by extended wait time, all of which contributing to limited access, particularly in the case of low-resource families. The research reviewed here illustrates a wider effort to advance biomarker-based measurements intended to develop better and more efficient tools and procedures for screening, diagnosing and monitoring treatment response in children with ASD. The advent of such tools could increase access to early diagnostic services and promote efficiencies in early treatment delivery, with the ultimate goal of ensuring that children with ASD are afforded the services they need to thrive.

La identificación y el diagnóstico temprano del trastorno del espectro autista (TEA) son necesarios para promover el acceso al tratamiento temprano, un factor crítico para optimizar los resultados de por vida de los niños. Y, sin embargo, el diagnóstico suele llegar tarde, lo que retrasa las intervenciones hasta un momento en el que los síntomas se han agravado y las habilidades de comunicación ya muestran diferencias perjudiciales. Esta revisión ilustra el progreso en la neurociencia social del desarrollo que se muestra prometedora en la generación de herramientas novedosas para el diagnóstico temprano objetivo y rentable de los TEA. Hacemos énfasis en la investigación del compromiso visual social, que es la forma en que los bebés y los niños pequeños miran y aprenden de su entorno social. La cuantificación momento a momento del compromiso visual social está generando medidas que comienzan a aproximarse a los procedimientos de mejores prácticas utilizados por médicos experimentados en la evaluación de niños pequeños. Este progreso y las posibles soluciones tienen importancia para la salud pública porque los médicos con experiencia son limitados en número y los servicios de evaluación clínica especializados tienden a ser largos, costosos y están plagados de tiempo de espera prolongado, todo lo cual contribuye a un acceso limitado, particularmente en el caso de familias con bajos recursos. La investigación revisada aquí ilustra un esfuerzo más amplio para avanzar en las mediciones basadas en biomarcadores destinadas a desarrollar herramientas y procedimientos mejores y más eficientes para la detección, el diagnóstico y el seguimiento de la respuesta al tratamiento en niños con TEA. El advenimiento de tales herramientas podría aumentar el acceso a los servicios de diagnóstico temprano y promover la eficiencia en la entrega del tratamiento temprano, con el objetivo final de garantizar que los niños con TEA reciban los servicios que necesitan para prosperar.

Infant-directed song potentiates infants' selective attention to adults' mouths over the first year of life.

The mechanisms by which infant-directed (ID) 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 ID communication are also of fundamental importance for language learning: over the first year of life, infants' visual attention to caregivers' faces during ID 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 ID song are highly effective for sustaining infants' attention. Here we investigate if ID song specifically enhances infants' attention to caregivers' mouths. 299 typically developing infants watched clips of female actors engaging them with ID song and speech longitudinally at six time points from 3 to 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 ID 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 ID 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 ID 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. A video abstract of this article can be viewed at https://youtu.be/SZ8xQW8h93A. RESEARCH HIGHLIGHTS: Infants' visual attention to adults' mouths during infant-directed speech has been found to support speech and language development. Infant-directed (ID) song promotes mouth-looking by infants to a greater extent than does ID speech across the first year of life. Features characteristic of ID song such as slower tempo, increased rhythmicity, increased audiovisual synchrony, and increased positive affect, all increase infants' attention to the mouth. The effects of song on infants' attention to the mouth are more prominent during the second half of the first year of life.

Expert Clinician Certainty in Diagnosing Autism Spectrum Disorder in 16-30-Month-Olds: A Multi-site Trial Secondary Analysis.

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.

Measuring state-level infant and toddler well-being in the United States: Gaps in data lead to gaps in understanding.

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.

Frontiers in the research of autism pathogenesis / Fronteras en la investigación de la patogenia del autismo

Abstract 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.

Resumen 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 altera ciones 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 experiencia-expectante (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 única mente en bebés diagnosticados posteriormente con TEA.

Frontiers in the research of autism pathogenesis.

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.

Early social communication development in infants with autism spectrum disorder.

Social-communication differences are a robust and defining feature of autism spectrum disorder (ASD) but identifying early points of divergence in infancy has been a challenge. The current study examines social communication in 9- to 12-month-old infants who develop ASD (N = 30; 23% female; 70% white) compared to typically developing (TD) infants (N = 94, 38% female; 88% white). Results demonstrate that infants later diagnosed with ASD were already exhibiting fewer social-communication skills using eye gaze, facial expression, gestures, and sounds at 9 months (effect size: 0.42-0.89). Moreover, three unique patterns of change across distinct social-communication skills were observed within the ASD group. This study documents that observable social-communication differences for infants with ASD are unfolding by 9 months, pointing to a critical window for targeted intervention.

Visual Traces of Language Acquisition in Toddlers with Autism Spectrum Disorder During the Second Year of Life.

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.

Affording autism an early brain development re-definition.

The national priority to advance early detection and intervention for children with autism spectrum disorder (ASD) has not reduced the late age of ASD diagnosis in the US over several consecutive Centers for Disease Control and Prevention (CDC) surveillance cohorts, with traditionally under-served populations accessing diagnosis later still. In this review, we explore a potential perceptual barrier to this enterprise which views ASD in terms that are contradicted by current science, and which may have its origins in the current definition of the condition and in its historical associations. To address this perceptual barrier, we propose a re-definition of ASD in early brain development terms, with a view to revisit the world of opportunities afforded by current science to optimize children's outcomes despite the risks that they are born with. This view is presented here to counter outdated notions that potentially devastating disability is determined the moment a child is born, and that these burdens are inevitable, with opportunities for improvement being constrained to only alleviation of symptoms or limited improvements in adaptive skills. The impetus for this piece is the concern that such views of complex neurodevelopmental conditions, such as ASD, can become self-fulfilling science and policy, in ways that are diametrically opposed to what we currently know, and are learning every day, of how genetic risk becomes, or not, instantiated as lifetime disabilities.

Timing of the Diagnosis of Autism in African American Children.

OBJECTIVES: African American (AA) children affected by autism spectrum disorder (ASD) experience delays in diagnosis and obstacles to service access, as well as a disproportionate burden of intellectual disability (ID) as documented in surveillance data recently published by the US Centers for Disease Control and Prevention. Our objective in this study was to analyze data from the largest-available repository of diagnostic and phenotypic information on AA children with ASD, and to explore the wide variation in outcome within the cohort as a function of sociodemographic risk and specific obstacles to service access for the purpose of informing a national approach to resolution of these disparities. METHODS: Parents of 584 AA children with autism consecutively enrolled in the Autism Genetic Resource Exchange across 4 US data collection sites completed event history calendar interviews of the diagnostic odysseys for their children with ASD. These data were examined in relation to developmental outcomes of the children with autism and their unaffected siblings. RESULTS: The average age of ASD diagnosis was 64.9 months (±49.6), on average 42.3 months (±45.1) after parents' first concerns about their children's development. The relationship between timing of diagnosis and ASD severity was complex, and ID comorbidity was not predicted in a straightforward manner by familial factors associated with cognitive variation in the general population. CONCLUSIONS: These findings document significant opportunity to expedite diagnosis, the need to further understand causes of ID comorbidity, and the necessity to identify effective approaches to the resolution of disparities in severity-of-outcome for AA children with autism.

Factors associated with enrollment into a clinical trial of caregiver-implemented intervention for infants at risk for autism spectrum disorder.

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.