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Eur Child Adolesc Psychiatry. 2007 Aug;16(5):305-8. Epub 2007 Mar 30.

Autism spectrum disorder and Klinefelter syndrome.

Author information

  • 1Division of Child Psychiatry, University of Michigan Hospital, 200 East Hospital Drive, Ann Arbor, MI 48109-0277, USA.

Abstract

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.

PMID:
17401614
DOI:
10.1007/s00787-007-0601-8
[PubMed - indexed for MEDLINE]
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