title: Mechanisms of developmental regression in autism and the broader phenotype: a neural network modeling approach.
abstract: Loss of previously established behaviors in early childhood constitutes a markedly atypical developmental trajectory. It is found almost uniquely in autism and its cause is currently unknown (Baird et al., 2008). We present an artificial neural network model of developmental regression, exploring the hypothesis that regression is caused by overaggressive synaptic pruning and identifying the mechanisms involved. We used a novel population-modeling technique to investigate developmental deficits, in which both neurocomputational parameters and the learning environment were varied across a large number of simulated individuals. Regression was generated by the atypical setting of a single pruning-related parameter. We observed a probabilistic relationship between the atypical pruning parameter and the presence of regression, as well as variability in the onset, severity, behavioral specificity, and recovery from regression. Other neurocomputational parameters that varied across the population modulated the risk that an individual would show regression. We considered a further hypothesis that behavioral regression may index an underlying anomaly characterizing the broader autism phenotype. If this is the case, we show how the model also accounts for several additional findings: shared gene variants between autism and language impairment (Vernes et al., 2008); larger brain size in autism but only in early development (Redcay & Courchesne, 2005); and the possibility of quasi-autism, caused by extreme environmental deprivation (Rutter et al., 1999). We make a novel prediction that the earliest developmental symptoms in the emergence of autism should be sensory and motor rather than social and review empirical data offering preliminary support for this prediction.
authors.affiliation: Developmental Neurocognition Lab, Centre for Brain and Cognitive Development, Department of Psychological Sciences, Birkbeck, University of London, Malet Street, London WC1E 7HX, United Kingdom. m.thomas@bbk.ac.uk
authors.forename: Michael S C
authors.initials: MS
authors.lastname: Thomas
authors.forename: Victoria C P
authors.initials: VC
authors.lastname: Knowland
authors.forename: Annette
authors.initials: A
authors.lastname: Karmiloff-Smith
mesh_terms: D001321:Autistic Disorder / Q000503:physiopathology* / Q000523:psychology*; D006801:Humans; D007804:Language Development; D008960:Models, Psychological; D016571:Neural Networks, Computer; D010641:Phenotype; D012043:Regression, Psychology