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Autism, language and communication in children with sex chromosome trisomies
  1. Dorothy V M Bishop1,
  2. Patricia A Jacobs2,
  3. Katherine Lachlan3,4,
  4. Diana Wellesley3,4,
  5. Angela Barnicoat5,
  6. Patricia A Boyd6,
  7. Alan Fryer7,
  8. Prisca Middlemiss8,
  9. Sarah Smithson9,
  10. Kay Metcalfe10,
  11. Deborah Shears11,
  12. Victoria Leggett1,
  13. Kate Nation1,
  14. Gaia Scerif1
  1. 1Department of Experimental Psychology, University of Oxford, Oxford, UK
  2. 2Wessex Regional Genetics Laboratory, Southampton University NHS Trust, Southampton, UK
  3. 3Wessex Clinical Genetics Service, Southampton University NHS Trust, Southampton, UK
  4. 4Division of Human Genetics, Southampton University, Southampton, UK
  5. 5NE Thames Regional Genetics Service, Great Ormond St Hospital, London, UK
  6. 6National Perinatal Epidemiology Unit, University of Oxford, UK
  7. 7Royal Liverpool Children's Hospital, Liverpool, UK
  8. 8Unique: Rare Chromosome Disorder Support Group, Caterham, Surrey, UK
  9. 9Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK
  10. 10Regional Genetics Service, St Mary's Hospital, Manchester, UK
  11. 11Department of Clinical Genetics, Churchill Hospital, Oxford, UK
  1. Correspondence to Professor Dorothy V M Bishop, Department of Experimental Psychology, University of Oxford, Tinbergen Building, 2, South Parks Road, Oxford OX1 3UD, UK; dorothy.bishop{at}


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.

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  • Funding This work was supported by grant number 06-19 from Newlife Foundation.

  • Competing interests None.

  • Patient consent Parental/guardian consent obtained.

  • Ethics approval This study was conducted with the approval of the Oxfordshire Research Ethics Committee B (ref: MREC 07/Q1605/49).

  • Provenance and peer review Not commissioned; externally peer reviewed.