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      Developmental pathways to autism: A review of prospective studies of infants at risk


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          • Prospective studies of infants at familial risk are characterizing developmental pathways to ASD.

          • Children with ASD show social and communication difficulties in the second year of life.

          • Early neurocognitive markers include atypical neural response to gaze and slowed disengagement.

          • Mapping how ASD unfolds from birth is central to early identification and intervention.


          Autism Spectrum Disorders (ASDs) are neurodevelopmental disorders characterized by impairments in social interaction and communication, and the presence of restrictive and repetitive behaviors. Symptoms of ASD likely emerge from a complex interaction between pre-existing neurodevelopmental vulnerabilities and the child's environment, modified by compensatory skills and protective factors. Prospective studies of infants at high familial risk for ASD (who have an older sibling with a diagnosis) are beginning to characterize these developmental pathways to the emergence of clinical symptoms. Here, we review the range of behavioral and neurocognitive markers for later ASD that have been identified in high-risk infants in the first years of life. We discuss theoretical implications of emerging patterns, and identify key directions for future work, including potential resolutions to several methodological challenges for the field. Mapping how ASD unfolds from birth is critical to our understanding of the developmental mechanisms underlying this disorder. A more nuanced understanding of developmental pathways to ASD will help us not only to identify children who need early intervention, but also to improve the range of interventions available to them.

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          Most cited references223

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          Executive function and the frontal lobes: a meta-analytic review.

          Currently, there is debate among scholars regarding how to operationalize and measure executive functions. These functions generally are referred to as "supervisory" cognitive processes because they involve higher level organization and execution of complex thoughts and behavior. Although conceptualizations vary regarding what mental processes actually constitute the "executive function" construct, there has been a historical linkage of these "higher-level" processes with the frontal lobes. In fact, many investigators have used the term "frontal functions" synonymously with "executive functions" despite evidence that contradicts this synonymous usage. The current review provides a critical analysis of lesion and neuroimaging studies using three popular executive function measures (Wisconsin Card Sorting Test, Phonemic Verbal Fluency, and Stroop Color Word Interference Test) in order to examine the validity of the executive function construct in terms of its relation to activation and damage to the frontal lobes. Empirical lesion data are examined via meta-analysis procedures along with formula derivatives. Results reveal mixed evidence that does not support a one-to-one relationship between executive functions and frontal lobe activity. The paper concludes with a discussion of the implications of construing the validity of these neuropsychological tests in anatomical, rather than cognitive and behavioral, terms.
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            Autism spectrum disorders: developmental disconnection syndromes.

            Autism is a common and heterogeneous childhood neurodevelopmental disorder. Analogous to broad syndromes such as mental retardation, autism has many etiologies and should be considered not as a single disorder but, rather, as 'the autisms'. However, recent genetic findings, coupled with emerging anatomical and functional imaging studies, suggest a potential unifying model in which higher-order association areas of the brain that normally connect to the frontal lobe are partially disconnected during development. This concept of developmental disconnection can accommodate the specific neurobehavioral features that are observed in autism, their emergence during development, and the heterogeneity of autism etiology, behaviors and cognition.
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              Imitation of facial and manual gestures by human neonates.

              Infants between 12 and 21 days of age can imitate both facial and manual gestures; this behavior cannot be explained in terms of either conditioning or innate releasing mechanisms. Such imitation implies that human neonates can equate their own unseen behaviors with gestures they see others perform.

                Author and article information

                Neurosci Biobehav Rev
                Neurosci Biobehav Rev
                Neuroscience and Biobehavioral Reviews
                Pergamon Press
                1 February 2014
                February 2014
                : 39
                : 100
                : 1-33
                [a ]Centre for Brain and Cognitive Development, Birkbeck College, University of London, UK
                [b ]King's College London, Institute of Psychiatry, Department of Psychology, UK
                [c ]King's College London, Institute of Psychiatry, Department of Biostatistics, UK
                Author notes
                [* ]Corresponding author at: Centre for Brain and Cognitive Development, School of Psychology, Birkbeck College, Malet Street, WC1E 7HX, UK. Tel.: +44 020 7631 6258. e.jones@ 123456bbk.ac.uk
                © 2014 The Authors

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


                asd,autism,infant sibling,high-risk,causal path,developmental mechanisms
                asd, autism, infant sibling, high-risk, causal path, developmental mechanisms


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