title: Autism, language and communication in children with sex chromosome trisomies.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
authors.affiliation: Department of Experimental Psychology, University of Oxford, Tinbergen Building, 2, South Parks Road, Oxford OX1 3UD, UK. dorothy.bishop@psy.ox.ac.uk
authors.forename: Dorothy V M
authors.initials: DV
authors.lastname: Bishop
authors.forename: Patricia A
authors.initials: PA
authors.lastname: Jacobs
authors.forename: Katherine
authors.initials: K
authors.lastname: Lachlan
authors.forename: Diana
authors.initials: D
authors.lastname: Wellesley
authors.forename: Angela
authors.initials: A
authors.lastname: Barnicoat
authors.forename: Patricia A
authors.initials: PA
authors.lastname: Boyd
authors.forename: Alan
authors.initials: A
authors.lastname: Fryer
authors.forename: Prisca
authors.initials: P
authors.lastname: Middlemiss
authors.forename: Sarah
authors.initials: S
authors.lastname: Smithson
authors.forename: Kay
authors.initials: K
authors.lastname: Metcalfe
authors.forename: Deborah
authors.initials: D
authors.lastname: Shears
authors.forename: Victoria
authors.initials: V
authors.lastname: Leggett
authors.forename: Kate
authors.initials: K
authors.lastname: Nation
authors.forename: Gaia
authors.initials: G
authors.lastname: Scerif
mesh_terms: D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics* / Q000523:psychology; D004519:Education, Special; D004522:Educational Status; D005260:Female; D006801:Humans; D007621:Karyotyping; D007805:Language Development Disorders / Q000235:genetics* / Q000628:therapy; D007808:Language Therapy; D008297:Male; D011296:Prenatal Diagnosis / Q000379:methods; D011594:Psychometrics; D012729:Sex Chromosome Aberrations; D013070:Speech Therapy; D014314:Trisomy