Autism, language and communication in children with sex chromosome trisomies
Bishop, Dorothy V.M., Jacobs, Patricia A., Lachlan, Katherine, Wellesley, Diana, Barnicoat, Angela, Boyd, Patricia A., Fryer, Alan, Middlemiss, Prisca, Smithsom, Sarah, Metcalfe, Kay, Shears, Deborah, Leggett, Victoria, Natiion, Kate and Scerif, Gaia (2011) Autism, language and communication in children with sex chromosome trisomies. Archives of Disease in Childhood (doi:10.1136/adc.2009.179747).
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Purpose: Sex chromosome trisomies (SCTs) are found on amniocentesis in 2.3–3.7 per 1000 same-sex births, yet there is a limited database on which to base a prognosis. Autism has been described in postnatally diagnosed cases of Klinefelter syndrome (XXY karyotype), but the prevalence in non-referred samples, and in other trisomies, is unclear. The authors 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. The authors hypothesise that X-linked and Y-linked neuroligins may play a significant role in the aetiology of communication impairments and ASD.
|Digital Object Identifier (DOI):||doi:10.1136/adc.2009.179747|
|Additional Information:||Web Only Data adc.2009.179747|
|Subjects:||Q Science > QH Natural history > QH426 Genetics
R Medicine > RG Gynecology and obstetrics
R Medicine > RJ Pediatrics > RJ101 Child Health. Child health services
|Divisions :||University Structure - Pre August 2011 > School of Medicine > Human Genetics
|Accepted Date and Publication Date:||
|Date Deposited:||27 Jul 2010 13:34|
|Last Modified:||31 Mar 2016 13:28|
|RDF:||RDF+N-Triples, RDF+N3, RDF+XML, Browse.|
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