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John Damien lecture
Thursday 13th
October 2016
Language, sex chromosomes and autism: unravelling the mystery
Dorothy V. M....
Witkin, H. A., Mednick, S. A., Schulsinger, F., Bakkestrom, E., Christiansen, K. O.,
Goodenough, D. R., . . . Stocking, M....
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Language, sex chromosomes and autism: unravelling the mystery

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Abstract and references for John Damien lecture
Thursday 13th October 2016, University of Stirling

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Language, sex chromosomes and autism: unravelling the mystery

  1. 1. John Damien lecture Thursday 13th October 2016 Language, sex chromosomes and autism: unravelling the mystery Dorothy V. M. Bishop. Department of Experimental Psychology, University of Oxford, UK In the 1960s several centres embarked on newborn screening studies to identify children with an extra X or Y chromosome, with the aim of identifying how this additional genetic material affected development. The general conclusion was that verbal skills tended to be depressed in girls with trisomy X and in boys with Klinefelter’s syndrome (XXY) or XYY syndrome. This is intriguing because most genetic conditions have a more general effect on neurodevelopment, rather than selectively impacting language. Cognitive profiles are quite variable both between and within the different groups, but overall the effect of an additional sex chromosome is far less severe than that of other trisomies. Research on this topic is difficult to do because many cases go unidentified, and neonatal screening is no longer deemed ethical. However, in the UK cases are identified in the course of prenatal screening, and some are also identified when chromosome studies are done as part of medical investigations. We conducted a study of such cases and confirmed a high rate of language impairment but also found an increased rate of diagnosed autism spectrum disorder, which had not been noticed in earlier research. Nevertheless, there was a wide range of outcomes and some children were doing well with no indication of any problems at school or home. Currently we are doing a more in-depth investigation of language and related skills of a UK sample. One question is whether the extra sex chromosome has similar effects on language and social development, regardless of whether the child has XXX, XXY or XYY karyotype, or whether there are subtle differences in the cognitive profile. We are also interested in the wide variation from child to child, and hope that by studying relationships between genes and behavior we might be able to find out more about why some children make good progress while others have more serious social or language problems. Reference list http://deevybee.blogspot.co.uk/2011/05/x-and-y-of-sex-differences.html Anonymous (2011). Patricia Jacobs. [10.1038/nrg3014]. Nature Reviews Genetics, 12(6), 384-384. Bishop, D. V. M., Jacobs, P. A., Lachlan, K., Wellesley, D., Barnicoat, A., Boyd, P. A., . . . Scerif, G. (2011). Autism, language and communication in children with sex chromosome trisomies. Archives of Disease in Childhood, 96, 954-959. doi: doi:10.1136/adc.2009.179747 Bishop, D. V. M., & Scerif, G. (2011). Klinefelter syndrome as a window on the etiology of language and communication impairments in children. Acta Paediatrica, 100(6), 903-907. doi: DOI: 10.1111/j.1651-2227.2011.02150.x Leggett, V., Jacobs, P., Nation, K., Scerif, G., & Bishop, D. V. M. (2010). Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Developmental Medicine and Child Neurology, 52(2), 119-129. doi: 10.1111/j.1469-8749.2009.03545.x Ramocki, M. B., & Zoghbi, H. Y. (2008). Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature, 455(7215), 912-918.
  2. 2. Witkin, H. A., Mednick, S. A., Schulsinger, F., Bakkestrom, E., Christiansen, K. O., Goodenough, D. R., . . . Stocking, M. (1976). Criminality in XYY and XXY men. Science, 193, 547-555.

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