Syndromic Autism: progressing beyond current levels of description

Glennon, Jennifer M. and Karmiloff-Smith, Annette and Thomas, Michael S.C. (2017) Syndromic Autism: progressing beyond current levels of description. Review Journal of Autism and Developmental Disorders 4 (4), pp. 321-327. ISSN 2195-7177.

Abstract

Genetic syndrome groups at high risk of autism comorbidity, like Down syndrome and fragile X syndrome, have been presented as useful models for understanding risk and protective factors involved in the emergence of autistic traits. Yet despite reaching clinical thresholds, these ‘syndromic’ forms of autism appear to differ in significant ways from the idiopathic or ‘non-syndromic’ autism profile. We explore alternative mechanistic explanations for these differences and propose a developmental interpretation of syndromic autism that takes into account the character of the genetic disorder. This interpretation anticipates syndrome-specific autism phenotypes, since the neurocognitive and behavioural expression of the autism is coloured by syndromically defined atypicalities. To uncover the true nature of comorbidities and of autism per se, we argue that it is key to extend definitions of autism to include the perceptual and neurocognitive characteristics of the disorder and then apply this multilevel conceptualization to the study of syndromic autism profiles.

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