Journal article
Autism, language and communication in children with sex chromosome trisomies
- Abstract:
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Purpose. Sex chromosome trisomies (SCTs) are found on amniocentesis in 2.3 to 3.7 per 1000 same-sex births, yet there is a limited database on which to base a prognosis. Autism has been described in post-natally diagnosed cases of Klinefelter syndrome (XXY karyotype), but the prevalence in non-referred samples, and in other trisomies, is unclear. We recruited the largest sample including all three SCTs to be reported to date, including children identified on prenatal screening, to clarify this issue.
Design. Parents of children with a SCT were recruited either via prenatal screening or via a parental support group, to give a sample of 58 XXX, 19 XXY, and 58 XYY cases. Parents were interviewed using the Vineland Adaptive Behavior Scales and completed questionnaires about the communicative development of children with SCTs and their siblings (42 brothers and 26 sisters).
Results. Rates of language and communication problems were high in all three trisomies. Diagnoses of autism spectrum disorder (ASD) were found in 2/19 cases of XXY (11%) and 11/58 XYY (19%). After excluding those with an ASD diagnosis, communicative profiles indicative of mild autistic features were common, although there was wide individual variation.
Conclusions. Autistic features have not previously been remarked upon in studies of non-referred samples with SCTs, yet the rate is substantially above population levels in this sample, even when attention is restricted to early-identified cases. We hypothesise that X- and Y-linked neuroligins may play a significant role in the etiology of communication impairments and ASD.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(doc, 205.5KB, Terms of use)
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- Publisher copy:
- 10.1136/adc.2009.179747
Authors
- Publisher:
- BMJ Publishing Group
- Journal:
- Archives of Disease in Childhood More from this journal
- Publication date:
- 2010-01-01
- Edition:
- Author's Original
- DOI:
- EISSN:
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14682044
- Language:
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English
- Keywords:
- Subjects:
- UUID:
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uuid:2650e09a-b745-49bc-a88b-d17e4e1456e7
- Local pid:
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ora:5417
- Deposit date:
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2011-06-08
- ARK identifier:
Terms of use
- Copyright holder:
- Dorothy Bishop et al
- Copyright date:
- 2010
- Notes:
- This article has been published in Archives of Disease in Childhood and can also be viewed on the journal's website at http://adc.bmj.com/. This is an open-access article distributed under the terms of the Creative Commons Attribution Non Commercial License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited and the work is used for non-commerical purposes.
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