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Diagnostic criteria for autism would suggest that different autism features tend to co-occur and that these are distinct from other aspects of neurodevelopmental disability, e.g. language impairment. However, it is possible that diagnostic criteria represent a skewed picture of the autism phenotype as it manifests in the world. I will present a study in which we investigated the coherence of the autism phenotype, comparing groups selected for neurodevelopmental features (a diagnosis of autism) and genetic aetiology (a diagnosis of sex chromosome trisomy; SCT).

Autism features showed a similar factor structure and were distinct from language ability in both groups, supporting the overall coherence of the autism phenotype. However, the SCT group was more likely to show clinically-significant difficulties in just some aspects of autism and to show fewer non-social autism features for their social-communication disabilities. Therefore, at a subtler level, it seemed that the autistic group over-selected for even profiles of difficulty and for disproportionately elevated non-social autism features. This analysis supports longstanding questions about the diagnostic validity of autism, indicating that diagnostic criteria may not map exactly on the autism phenotype as it manifests “naturally.”

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