Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population

J Intellect Disabil Res. 2009 Oct;53(10):852-73. doi: 10.1111/j.1365-2788.2009.01197.x. Epub 2009 Aug 25.


Background: An emerging literature on behavioural phenotypes has highlighted apparent associations between autism spectrum disorders (ASDs) or ASD-related phenomenology and a number of different genetically determined syndromes.

Method: A systematic review of the current literature regarding the association with ASD and ASD characteristics was conducted in the following syndrome groups: Fragile X, Rett, Tuberous Sclerosis Complex, Down, Angelman, CHARGE and Phenylketonuria. Specific consideration was given to the role of intellectual disability in assessing the association between ASD and these syndrome groups.

Results: The review highlights that while formal diagnostic assessments may indicate an association between ASD and specific syndrome groups, detailed investigation has revealed subtle but qualitative differences in the presentation of ASD-like phenomenology in particular syndrome groups. The degree of ID of the individual clearly has a role to play with regard to the development and presentation of ASD-like characteristics, and caution should be taken when assessing ASD symptomatology in genetically determined syndromes associated with severe ID. However, degree of ID cannot solely account for the heightened prevalence of ASD characteristics in some specific syndrome groups.

Conclusions: There is a need for caution in interpreting the significance of superficial similarities between ASD and the behavioural phenotypes of certain genetically determined syndromes. However, recognition of ASD-like characteristics (even where a true diagnosis of ASD may not be relevant) in individuals with genetic syndromes is crucial in ensuring that individuals receive appropriate behavioural management and educational placement. Further research in this field requires fine-grained investigation of behavioural phenomenology within individual syndrome groups.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Angelman Syndrome / complications*
  • Angelman Syndrome / diagnosis
  • Angelman Syndrome / therapy
  • Child Development Disorders, Pervasive / complications
  • Child Development Disorders, Pervasive / diagnosis*
  • Child Development Disorders, Pervasive / therapy*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / complications*
  • Intellectual Disability / diagnosis
  • Intellectual Disability / therapy
  • Male
  • Phenylketonurias / complications*
  • Phenylketonurias / diagnosis
  • Phenylketonurias / therapy
  • Tuberous Sclerosis / complications*
  • Tuberous Sclerosis / diagnosis
  • Tuberous Sclerosis / therapy