Dorothy V. M. Bishop|Patricia A. Jacobs|Katherine Lachlan|Diana Wellesley|Angela Barnicoat|Patricia A. Boyd|Alan Fryer|Prisca Middlemiss|Sarah Smithson|Kay Metcalfe|D. Shears|Victoria Leggett|Kate Nation|Gaia Scerif
Autism, language and communication in children with sex chromosome trisomies
University of Oxford|Wessex Regional Genetics Laboratory|University of Southampton|University of Southampton|Great Ormond Street Hospital|University College London|University of Oxford|Royal Liverpool University Hospital|University of Liverpool|St. Mary's Hospital|St Mary's Hospital|Churchill Hospital|University of Oxford|University of Oxford|University of Oxford
h3purposeh3 sex chromosome trisomies scts found amniocentesis 2337 per 1000 samesex births yet limited database base prognosis autism described postnatally diagnosed cases klinefelter syndrome xxy karyotype prevalence nonreferred samples trisomies unclear authors recruited largest sample including three scts reported date including children identified prenatal screening clarify issue h3designh3 parents children sct recruited either via prenatal screening via parental support group give sample 58 xxx 19 xxy 58 xyy cases parents interviewed using vineland adaptive behavior scales completed questionnaires communicative development children scts siblings 42 brothers 26 sisters h3resultsh3 rates language communication problems high three trisomies diagnoses autism spectrum disorder asd found 219 cases xxy 11 1158 xyy 19 excluding asd diagnosis communicative profiles indicative mild autistic features common although wide individual variation h3conclusionsh3 autistic features previously remarked upon studies nonreferred samples scts yet rate substantially population levels sample even attention restricted earlyidentified cases authors hypothesise xlinked ylinked neuroligins may play significant role aetiology communication impairments asd