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

Journal article citation:
Journal of Intellectual Disability Research, 53(10), October 2009, pp.852-873.

There is growing interest in the association between autism spectrum disorders (ASDs), or ASD-related phenomenology, and a number genetically linked conditions. This systematic review examines the possibility of such an association in the following syndrome groups; Fragile X, Rett, Tuberous Sclerosis Complex, Down, Angelman, CHARGE, and Phenylketonuria. Special consideration is given to the role of intellectual disability (ID) in assessing the association. The first section looks specifically at the possible associations while the second section focuses on the clinical implications in terms of diagnosis and intervention, and the implication for conceptual and theoretical frameworks. Formal diagnostic assessments suggest an association between ASD and specific syndrome groups but detailed investigation reveals subtle but qualitative differences in the presentation of ASD-like phenomenology in particular groups. The degree of ID of the individual appears to play a part in the development and presentation of ASD-like characteristics but cannot solely account for the heightened prevalence of ASD characteristics in some specific syndromes. The authors suggest that caution is needed in interpreting the significance of superficial similarities between ASD and the behavioural phenotypes of certain genetically determined syndromes. However, recognition of ASD-like characteristics in individuals with genetic syndromes is crucial in ensuring that individuals receive appropriate support.

Subject terms:
learning disabilities, autistic spectrum conditions, diagnosis, genetics;
Content type:
systematic review
Journal home page
ISSN online:
ISSN print:

Key to icons

  • Free resource Free resource
  • Journal article Journal article
  • Book Book
  • Digital media Digital media
  • Journal Journal

Give us your feedback

Social Care Online continues to be developed in response to user feedback.

Contact us with your comments and for any problems using the website.

Sign up/login for more

Register/login to use standard search filters, access resource links, advanced search and email alerts