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. 2017 Dec;19(4):325-333.
doi: 10.31887/DCNS.2017.19.4/mshen.

Brain and behavior development in autism from birth through infancy

Mark D Shen  1 , Joseph Piven  1
Affiliations

Brain and behavior development in autism from birth through infancy

Mark D Shen et al. Dialogues Clin Neurosci. 2017 Dec.

Abstract
in English, Spanish, French

Autism spectrum disorder (ASD) is a heterogeneous condition that affects 1 in 68 children. Diagnosis is based on the presence of characteristic behavioral impairments that emerge in the second year of life and thus is not typically made until 3 to 4 years of age. Recent studies of early brain and behavior development have provided important new insights into the nature of this condition. Autism-specific brain imaging features have been identified as early as 6 months of age, and age-specific brain and behavior changes have been demonstrated across the first 2 years of life, highlighting the developmental nature of ASD. New findings demonstrate that early brain imaging in the first year of life holds great promise for presymptomatic prediction of ASD. There is a general understanding in medicine that earlier treatment has better outcomes than later treatment, and in autism, there is an emerging consensus that earlier intervention results in more successful outcomes for the child. Examining early brain and behavior trajectories also has the potential to parse the etiologic heterogeneity in ASD, a well-recognized impediment to developing targeted, mechanistic treatments. This review highlights the current state of the science in the pursuit of early brain and behavioral markers of autism during infancy and examines the potential implications of these findings for treatment of this condition.

El trastorno del espectro autista (TEA) es una condición heterogénea que afecta a uno entre 68 niños. El diagnóstico está basado en la presencia de alteraciones conductuales características que aparecen durante el segundo año de vida y que no son totalmente típicas hasta los tres o cuatro años. Estudios recientes sobre el desarrollo precoz, tanto cerebral como conductual, han aportado novedosos conocimientos respecto a la naturaleza de este cuadro. En los estudios de imágenes, ya a los seis meses de edad se han identificado características que son específicas para el autismo; también se han observado cambios conductuales y cerebrales específicos para la edad durante los dos primeros años de vida, lo que resalta la naturaleza evolutiva del TEA. Hay nuevos hallazgos que demuestran que imágenes cerebrales precoces durante el primer año de vida constituyen una gran promesa para la predicción del TEA previo a la aparición de los síntomas. En medicina existe el concepto que un tratamiento más precoz tiene mejor resultado que uno más tardío, y en el autismo ha surgido el consenso que una intervención más precoz obtiene resultados más exitosos para el niño. La evaluación de las manifestaciones conductuales y cerebrales precoces también tiene el potencial de analizar la heterogeneidad etiológica del TEA, la cual constituye un impedimento bien reconocido para el desarrollo de tratamientos específicos. Esta revisión destaca el estado actual de la ciencia en cuanto a la búsqueda de marcadores conductuales y cerebrales precoces de autismo durante la infancia y analiza las potenciales implicancias de estos hallazgos en el tratamiento de esta patología.

Le trouble du spectre de l'autisme (TSA) est une maladie hétérogène qui touche 1 enfant sur 68. Le diagnostic, rarement posé avant 3 ou 4 ans, est basé sur la présence de déficits comportementaux caractéristiques, apparaissant lors de la deuxième année de vie. De récentes études sur le développement précoce du cerveau et du comportement ont éclairé différemment la nature de cette maladie. Une imagerie cérébrale spécifique de l'autisme est identifiée dès l'âge de 6 mois et les modifications du cerveau et du comportement liées à l'âge mises en évidence lors des 2 premières années de vie, soulignent la nature développementale du TSA. D'après des données récentes, l'imagerie cérébrale précoce dans la 1re année de vie est très prometteuse en termes de prédiction présymptomatique du TSA. En médecine, il est généralement admis qu'un traitement précoce donne de meilleurs résultats qu'un traitement tardif et dans l'autisme, le consensus actuel est qu'il est bénéfique pour l'enfant d'intervenir tôt. L'examen des trajectoires précoces du cerveau et du comportement permet d'analyser l'hétérogénéité étiologique du TSA, frein bien connu au développement de traitements mécanistiques ciblés. Cet article met en lumière l'état actuel de la science dans la recherche de marqueurs précoces cérébraux et comportementaux de l'autisme pendant l'enfance et il analyse les implications potentielles de ces résultats pour le traitement de cette maladie.

Keywords: autism; autism spectrum disorder; biomarker; brain development; cortical surface area; diffusion tensor imaging; early detection; early prediction; early risk sign; extra-axial cerebrospinal fluid; functional connectivity; infancy.

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Figures

Figure 1.
Figure 1.. Several brain features have been identified during the presymptomatic period in autism—before the unfolding of the diagnostic symptoms of autism. (A) Cortical surface area growth between 6 and 1 2 months of age is predictive of an eventual autism diagnosis35; (B) Increased volume of extra-axial CSF at 6 months of age (ie, CSF in the subarachnoid space; colored in red) is associated with autism diagnosis, early motor deficits, and later autism severity,; (A) Aberrant white matter connectivity (fractional anisotropy in the genu of the corpus callosum) is present at 6 months of age and is predictive of the severity of repetitive behaviors and sensory responsiveness at the time of diagnosis-; (DD) Altered functional connectivity at 6 months of age predicts an eventual autism diagnosis. These neural features are concurrent with early behavioral signs in the first year of life, followed by the unfolding of diagnostic symptoms in the second year of life, and the consolidation of behavioral symptoms that are fully diagnostic of autism. CSF, cerebrospinal fluid; WM, white matter.
See this image and copyright information in PMC

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