Autism spectrum disorder and Klinefelter syndrome

P Jha, D Sheth, M Ghaziuddin
European Child & Adolescent Psychiatry 2007, 16 (5): 305-8

BACKGROUND: Autism is a severe handicapping disorder of early childhood characterized by a distinct pattern of social and communication impairment with rigid ritualistic interests. In about 10-25% of cases, it is associated with known medical conditions. Population-based studies of autism have found that Klinefelter's syndrome (KS), a common chromosome abnormality, is sometimes associated with autism. However, few detailed case descriptions of patients with KS and autism have not been published.

CASE REPORT: In this paper, we describe the occurrence of autistic features in two cases of Klinefelter syndrome, one with the typical XXY karyotype and the other with the XXYY variant.

CONCLUSION: Autistic features may be more common in persons with Klinefelter syndrome than generally believed. We propose that all patients with KS should be screened for the presence of autism.


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David Denley

I have KS (Mosaic) and possibly am on the ASD spectrum however, getting that confirmation has eluded me for many years. Consequently I fully support the idea that all of those with KS ought to be screened for ASD. Knowledge is Power!


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