Syndromic Autism: Progressing Beyond Current Levels of Description

  • Jennifer M. Glennon
  • Annette Karmiloff-Smith
  • Michael S. C. Thomas
Review Paper


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 conceptualisation to the study of syndromic autism profiles.


Syndromic autism Down syndrome Fragile X syndrome 



This research was supported by Wellcome Trust Strategic Grant No. 098330/Z/12/Z, Economic and Social Research Council (ESRC) Grant RES-062-23-2721 (to Michael Thomas) and an ESRC studentship awarded to Jennifer Glennon.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Human and Animal Rights and Informed Consent

No study was performed on any human or animal subjects. For this type of research, formal consent is not required.


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Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  • Jennifer M. Glennon
    • 1
  • Annette Karmiloff-Smith
    • 1
  • Michael S. C. Thomas
    • 1
  1. 1.Centre for Brain and Cognitive Development, Department of Psychological SciencesBirkbeck, University of LondonLondonUK

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