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Autism spectrum disorder and Klinefelter syndrome
1Division of Child Psychiatry, University of Michigan Hospital, 200 East Hospital Drive, Ann Arbor, MI 48109-0277, USA.
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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01:29Nondisjunction
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