Phenotypic conundrums in the diagnostic appraisal of autism spectrum disorders

Original KEYNOTE presentation and abstract by professor David Skuse (Institute of Child Health, Behavioural and Brain Sciences Unit, London, UK) on Phenotypic conundrums in the diagnostic appraisal of autism spectrum disorders, held at the ESCAP 2013 Congress in Dublin, Tuesday 9th July 2013.

Images from the presentation of Dr David SkuseAbstract
The landscape of social communication disorders has changed radically with the introduction of DSM-5 diagnostic criteria. Why should this matter? Simplifying the rubric by which we define ASD is laudable. Yet many symptomatic conundrums, concerning the nature of ‘real autism’, remain unresolved. Cognitive, neuroimaging, and genetic evidence of ASD heterogeneity will be reviewed, in an attempt at resolution.
Keywords: DSM 5, symptomatic conundrums.

Presentation
View the full presentation here (pdf file, 44 slides).

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The association between the social-communication element of autism
and repetitive interests, behaviours and activities

A research review bij David Skuse and William P.L. Mandy in the Journal of Child Psychology and Psychiatry (2008) headlined: "What is the association between the social-communication element of autism and repetitive interests, behaviours and activities?" 

Abstract
Autism is currently conceptualised as a unitary disorder, in which social-communication impairments are found alongside repetitive interests, behaviours and activities (RIBAs). This relies upon the validity of the assumption that social-communication impairments and RIBAs co-occur at an above chance level as a result of sharing underlying causes. In the current review it is argued that the evidence for this assumption is scarce: the very great majority of RIBA research has not been intended for or suited to its examination. In fact only three studies are fit to address directly the question of the relationship between social-communication impairment and RIBAs, and these contradict each other. In consequence, further relevant evidence was sought in the behavioural and genetic literature. This approach suggested that the correlation between social-communication impairments and RIBAs has been exaggerated in the current consensus about the autism syndrome, and that these aspects of autism may well share largely independent underlying causes. Some clinical and research implications are discussed.

Read the full article in The Journal of Child Psychology and Psychiatry (Volume 49, Issue 8, pages 795-808, August 2008).

Respond to this subject.

  • David H. Skuse

    David H. Skuse MD is professor of behavioral and brain sciences at the Institute of Child Health, University College London and Honorary Consultant in Developmental Neuropsychiatry at Great Ormond Street Hospital for 

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    Children. His team at Great Ormond Street Hospital provides a national clinical service for children with high functioning autism spectrum disorders.
    Dr Skuse’s approach to research is quintessentially interdisciplinary, and translational. He has been closely involved in the development of novel methodologies for the assessment of impairments in social cognitive competence, and in the identification of endophenotypes relevant to autism spectrum disorders.