Abstract With the upsurge of community uptake in popula tion-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 cen ters 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 implementa tion 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 inves tments 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.

Resumen Con el aumento de la aceptación comunitaria de la detección temprana del autismo basada en la pobla ción, 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 imple mentados 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 diagnósti cas” y retrasos, a menudo de gran importancia, para los padres varios años, para tratamiento, intervenciones y apoyos. Los procedimientos objetivos basados en bio marcadores para el diagnóstico temprano y la evaluación del autismo ya están disponibles, clínicamente validados y aprobados para su amplia implementación por la Ad ministración de Alimentos y Medicamentos de EE. UU. (FDA). Su objetivo es aumentar el acceso manteniendo una alta calidad. Sin embargo, tales soluciones requeri rán cambios en los modelos arraigados de atención de diagnóstico y una priorización agresiva de las necesida des 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. 51 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.

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.

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.

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.

Autismo e síndrome de Asperger são entidades diagnósticas em uma família de transtornos de neurodesenvolvimento nos quais ocorre uma ruptura nos processos fundamentais de socialização, comunicação e aprendizado. Esses transtornos são coletivamente conhecidos como transtornos invasivos de desenvolvimento. Esse grupo de condições está entre os transtornos de desenvolvimento mais comuns, afetando aproximadamente 1 em cada 200 indivíduos. Eles estão também entre os com maior carga genética entre os transtornos de desenvolvimento, com riscos de recorrência entre familiares da ordem de 2 a 15% se for adotada uma definição mais ampla de critério diagnóstico. Seu início precoce, perfil sintomático e cronicidade envolvem mecanismos biológicos fundamentais relacionados à adaptação social. Avanços em sua compreensão estão conduzindo a uma nova perspectiva da neurociência ao estudar os processos típicos de socialização e das interrupções específicas deles advindas. Esses processos podem levar à emergência de fenótipos altamente heterogêneos associados ao autismo, o paradigmático transtorno invasivo de desenvolvimento e suas variantes. Esta revisão foca o histórico, a nosologia e as características clínicas e associadas aos dois transtornos invasivos de desenvolvimento mais conhecidos - o autismo e a síndrome de Asperger.

Autism and Asperger syndrome are diagnostic entities in a family of neurodevelopmental disorders disrupting fundamental processes of socialization, communication and learning, collectively known as pervasive developmental disorders. This group of conditions is among the most common developmental disorders, affecting 1 in every 200 or so individuals. They are also the most strongly genetically related among developmental disorders, with recurrence risks within sibships of the order of 2 to 15% if a broader definition of affectedness is adopted. Their early onset, symptom profile, and chronicity implicate fundamental biological mechanisms involved in social adaptation. Advances in their understanding are leading to a new social neuroscience perspective of normative socialization processes and specific disruptions thereof. These processes may lead to the emergence of the highly heterogeneous phenotypes associated with autism, the paradigmatic pervasive developmental disorder, and its variants. This overview focuses on the history, nosology, and the clinical and associated features of the two most well-known pervasive developmental disorders - autism and Asperger syndrome.

Esse artigo realiza uma revisão da história e do quadro clínico da síndrome de Asperger, considerando orientações para a avaliação clínica e o tratamento. Aspectos da validade dessa entidade nosográfica, as limitações das pesquisas atuais e as potenciais vantagens dessa linha de investigação são revisadas. Conclui discutindo a necessidade da implementação de serviços educacionais e o estabelecimento de outras intervenções de maneira adequada para o atendimento de indivíduos com graves alterações da sociabilidade, independentemente da validade e utilidade desse diagnóstico.

This article provides an overview of the history and clinical features of Asperger syndrome, and considers guidelines for clinical assessment and treatment. A review of issues related to external validity is provided, which points out the limitations of current research, and lists several potentially beneficial areas of investigation into the nosologic status of the condition. It concludes with a discussion of the unequivocal need of individuals with severe social disabilities for comprehensive and adequate educational services and other treatments irrespective of the fact that the validity and the utility of this specific diagnostic concept is far from resolved.